Incidental Mutation 'R7560:Specc1'
| ID |
585050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Specc1
|
| Ensembl Gene |
ENSMUSG00000042331 |
| Gene Name |
sperm antigen with calponin homology and coiled-coil domains 1 |
| Synonyms |
Cytsb, 2810012G08Rik, B230396K10Rik |
| MMRRC Submission |
045626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R7560 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61847589-62113839 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 62019235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049836]
[ENSMUST00000049836]
[ENSMUST00000092415]
[ENSMUST00000092415]
[ENSMUST00000108709]
[ENSMUST00000108709]
[ENSMUST00000201015]
[ENSMUST00000201015]
[ENSMUST00000201364]
[ENSMUST00000201364]
[ENSMUST00000201624]
[ENSMUST00000201624]
[ENSMUST00000201671]
[ENSMUST00000201671]
[ENSMUST00000202179]
[ENSMUST00000202179]
[ENSMUST00000201723]
[ENSMUST00000201723]
[ENSMUST00000202178]
[ENSMUST00000202178]
[ENSMUST00000202389]
[ENSMUST00000202389]
[ENSMUST00000202744]
[ENSMUST00000202744]
[ENSMUST00000202905]
[ENSMUST00000202905]
|
| AlphaFold |
Q5SXY1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049836
|
| SMART Domains |
Protein: ENSMUSP00000063102
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000049836
|
| SMART Domains |
Protein: ENSMUSP00000063102
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092415
|
| SMART Domains |
Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
79 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
144 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
236 |
N/A |
INTRINSIC |
|
coiled coil region
|
282 |
374 |
N/A |
INTRINSIC |
|
coiled coil region
|
399 |
440 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
805 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
832 |
844 |
N/A |
INTRINSIC |
|
CH
|
883 |
981 |
2.69e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092415
|
| SMART Domains |
Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
79 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
144 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
236 |
N/A |
INTRINSIC |
|
coiled coil region
|
282 |
374 |
N/A |
INTRINSIC |
|
coiled coil region
|
399 |
440 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
805 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
832 |
844 |
N/A |
INTRINSIC |
|
CH
|
883 |
981 |
2.69e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108709
|
| SMART Domains |
Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
924 |
N/A |
INTRINSIC |
|
CH
|
963 |
1061 |
2.69e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108709
|
| SMART Domains |
Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
924 |
N/A |
INTRINSIC |
|
CH
|
963 |
1061 |
2.69e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201015
|
| SMART Domains |
Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
264 |
N/A |
INTRINSIC |
|
CH
|
303 |
401 |
1.4e-18 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201015
|
| SMART Domains |
Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
264 |
N/A |
INTRINSIC |
|
CH
|
303 |
401 |
1.4e-18 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201364
|
| SMART Domains |
Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
876 |
887 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
915 |
N/A |
INTRINSIC |
|
CH
|
954 |
1052 |
2.69e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201364
|
| SMART Domains |
Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
876 |
887 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
915 |
N/A |
INTRINSIC |
|
CH
|
954 |
1052 |
2.69e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201624
|
| SMART Domains |
Protein: ENSMUSP00000144659
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201624
|
| SMART Domains |
Protein: ENSMUSP00000144659
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201671
|
| SMART Domains |
Protein: ENSMUSP00000144030
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201671
|
| SMART Domains |
Protein: ENSMUSP00000144030
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202179
|
| SMART Domains |
Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
79 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
144 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
236 |
N/A |
INTRINSIC |
|
coiled coil region
|
282 |
374 |
N/A |
INTRINSIC |
|
coiled coil region
|
399 |
440 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
796 |
807 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
835 |
N/A |
INTRINSIC |
|
CH
|
874 |
972 |
2.69e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202179
|
| SMART Domains |
Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
79 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
144 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
236 |
N/A |
INTRINSIC |
|
coiled coil region
|
282 |
374 |
N/A |
INTRINSIC |
|
coiled coil region
|
399 |
440 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
796 |
807 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
835 |
N/A |
INTRINSIC |
|
CH
|
874 |
972 |
2.69e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201723
|
| SMART Domains |
Protein: ENSMUSP00000144542
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
79 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
144 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
236 |
N/A |
INTRINSIC |
|
coiled coil region
|
282 |
374 |
N/A |
INTRINSIC |
|
coiled coil region
|
399 |
440 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
693 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201723
|
| SMART Domains |
Protein: ENSMUSP00000144542
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
79 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
144 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
236 |
N/A |
INTRINSIC |
|
coiled coil region
|
282 |
374 |
N/A |
INTRINSIC |
|
coiled coil region
|
399 |
440 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
693 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202178
|
| SMART Domains |
Protein: ENSMUSP00000144161
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202178
|
| SMART Domains |
Protein: ENSMUSP00000144161
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202389
|
| SMART Domains |
Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
924 |
N/A |
INTRINSIC |
|
CH
|
963 |
1061 |
2.69e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202389
|
| SMART Domains |
Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
924 |
N/A |
INTRINSIC |
|
CH
|
963 |
1061 |
2.69e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202744
|
| SMART Domains |
Protein: ENSMUSP00000144483
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
113 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202744
|
| SMART Domains |
Protein: ENSMUSP00000144483
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
113 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202905
|
| SMART Domains |
Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
924 |
N/A |
INTRINSIC |
|
CH
|
963 |
1061 |
2.69e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202905
|
| SMART Domains |
Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
924 |
N/A |
INTRINSIC |
|
CH
|
963 |
1061 |
2.69e-16 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (100/100) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
G |
13: 91,932,510 (GRCm39) |
D502G |
probably benign |
Het |
| Adrb1 |
T |
C |
19: 56,711,120 (GRCm39) |
V106A |
probably damaging |
Het |
| Ahcyl2 |
G |
T |
6: 29,886,139 (GRCm39) |
G352W |
probably damaging |
Het |
| Ahnak2 |
T |
G |
12: 112,745,851 (GRCm39) |
D446A |
|
Het |
| Arhgap42 |
T |
C |
9: 9,035,532 (GRCm39) |
D270G |
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,058,828 (GRCm39) |
V129A |
possibly damaging |
Het |
| B9d2 |
G |
A |
7: 25,380,784 (GRCm39) |
|
probably benign |
Het |
| Bace1 |
A |
T |
9: 45,767,437 (GRCm39) |
I207F |
possibly damaging |
Het |
| Blnk |
T |
A |
19: 40,940,834 (GRCm39) |
I190F |
possibly damaging |
Het |
| Bmp7 |
C |
T |
2: 172,781,757 (GRCm39) |
E36K |
possibly damaging |
Het |
| Brsk2 |
A |
G |
7: 141,554,597 (GRCm39) |
E654G |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,780,378 (GRCm39) |
H661R |
probably benign |
Het |
| Cdh4 |
T |
C |
2: 179,532,695 (GRCm39) |
V719A |
probably benign |
Het |
| Cdkn2d |
G |
T |
9: 21,200,540 (GRCm39) |
P77H |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,247,096 (GRCm39) |
V1024A |
probably damaging |
Het |
| Chsy1 |
T |
A |
7: 65,820,992 (GRCm39) |
M409K |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,319 (GRCm39) |
L518P |
probably damaging |
Het |
| Cic |
G |
A |
7: 24,972,278 (GRCm39) |
V670M |
probably damaging |
Het |
| Clock |
A |
T |
5: 76,390,738 (GRCm39) |
|
probably null |
Het |
| Coro1a |
C |
A |
7: 126,302,306 (GRCm39) |
V14L |
probably damaging |
Het |
| Ctcfl |
C |
A |
2: 172,960,199 (GRCm39) |
C128F |
probably damaging |
Het |
| Cyb5b |
A |
G |
8: 107,896,491 (GRCm39) |
T71A |
probably damaging |
Het |
| Cyp2c40 |
C |
G |
19: 39,795,658 (GRCm39) |
V174L |
possibly damaging |
Het |
| D630045J12Rik |
T |
A |
6: 38,173,562 (GRCm39) |
Q202L |
possibly damaging |
Het |
| Dgkz |
T |
C |
2: 91,773,160 (GRCm39) |
|
probably benign |
Het |
| Dlgap2 |
T |
C |
8: 14,872,697 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
T |
C |
14: 31,026,940 (GRCm39) |
I695V |
probably benign |
Het |
| Dst |
T |
A |
1: 34,221,532 (GRCm39) |
S2445R |
possibly damaging |
Het |
| Elob |
T |
C |
17: 24,043,950 (GRCm39) |
D83G |
probably benign |
Het |
| Elp4 |
T |
A |
2: 105,624,933 (GRCm39) |
D320V |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,530,886 (GRCm39) |
Y45C |
probably damaging |
Het |
| Exph5 |
A |
G |
9: 53,287,073 (GRCm39) |
I1385V |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,908,138 (GRCm39) |
D2621E |
probably damaging |
Het |
| Fbxl6 |
G |
T |
15: 76,422,669 (GRCm39) |
A83D |
probably benign |
Het |
| Fmo2 |
A |
G |
1: 162,716,318 (GRCm39) |
Y90H |
probably damaging |
Het |
| Fzd4 |
T |
A |
7: 89,056,761 (GRCm39) |
Y269* |
probably null |
Het |
| Grik5 |
T |
A |
7: 24,757,951 (GRCm39) |
I377F |
probably damaging |
Het |
| Havcr2 |
C |
A |
11: 46,349,889 (GRCm39) |
P137Q |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,392,405 (GRCm39) |
N223S |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,347,185 (GRCm39) |
S4792G |
probably benign |
Het |
| Hps3 |
T |
G |
3: 20,084,616 (GRCm39) |
I191L |
probably benign |
Het |
| Ica1l |
T |
A |
1: 60,049,369 (GRCm39) |
K195* |
probably null |
Het |
| Idh2 |
TCCCAGGGCC |
TCC |
7: 79,748,079 (GRCm39) |
|
probably null |
Het |
| Ift140 |
A |
G |
17: 25,311,315 (GRCm39) |
D1170G |
probably benign |
Het |
| Igflr1 |
T |
C |
7: 30,266,776 (GRCm39) |
F208S |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,580,310 (GRCm39) |
T313A |
probably benign |
Het |
| Krt6a |
T |
A |
15: 101,598,994 (GRCm39) |
I524F |
unknown |
Het |
| Lce1d |
G |
T |
3: 92,593,148 (GRCm39) |
H88Q |
unknown |
Het |
| Lrmda |
A |
G |
14: 22,878,770 (GRCm39) |
E177G |
probably benign |
Het |
| Lrrn3 |
T |
A |
12: 41,502,712 (GRCm39) |
N535I |
possibly damaging |
Het |
| Map2k4 |
T |
A |
11: 65,666,583 (GRCm39) |
I40L |
unknown |
Het |
| Map7d1 |
A |
G |
4: 126,130,429 (GRCm39) |
L459P |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,352,859 (GRCm39) |
N66I |
possibly damaging |
Het |
| Mycn |
A |
C |
12: 12,990,292 (GRCm39) |
F35V |
probably benign |
Het |
| Mzt2 |
A |
C |
16: 15,680,669 (GRCm39) |
M40R |
possibly damaging |
Het |
| N4bp2 |
T |
G |
5: 65,948,458 (GRCm39) |
L363V |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,097,221 (GRCm39) |
M1532K |
probably benign |
Het |
| Notch1 |
G |
A |
2: 26,350,177 (GRCm39) |
T2321M |
probably benign |
Het |
| Nr1h4 |
T |
C |
10: 89,334,123 (GRCm39) |
D89G |
probably benign |
Het |
| Nsun4 |
G |
A |
4: 115,908,691 (GRCm39) |
T623I |
possibly damaging |
Het |
| Nup155 |
T |
C |
15: 8,184,531 (GRCm39) |
S1309P |
probably benign |
Het |
| Or4e1 |
T |
C |
14: 52,700,851 (GRCm39) |
N205S |
probably damaging |
Het |
| Or51f5 |
T |
C |
7: 102,430,889 (GRCm39) |
S69P |
probably damaging |
Het |
| Or8h10 |
T |
C |
2: 86,809,122 (GRCm39) |
Y6C |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,814,336 (GRCm39) |
F61L |
probably benign |
Het |
| Phrf1 |
A |
T |
7: 140,811,138 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
G |
A |
17: 24,792,605 (GRCm39) |
E1431K |
probably benign |
Het |
| Pkd2 |
T |
A |
5: 104,628,219 (GRCm39) |
I431N |
probably damaging |
Het |
| Plcb2 |
A |
G |
2: 118,546,124 (GRCm39) |
L557P |
probably damaging |
Het |
| Poteg |
A |
G |
8: 27,984,988 (GRCm39) |
N449S |
probably benign |
Het |
| Ppargc1b |
C |
A |
18: 61,445,281 (GRCm39) |
G192W |
probably damaging |
Het |
| Rab13 |
T |
C |
3: 90,132,206 (GRCm39) |
S178P |
probably benign |
Het |
| Ralgds |
A |
G |
2: 28,437,607 (GRCm39) |
D571G |
probably damaging |
Het |
| Ror2 |
A |
G |
13: 53,264,849 (GRCm39) |
S748P |
probably benign |
Het |
| Sart1 |
A |
T |
19: 5,434,905 (GRCm39) |
L167Q |
probably damaging |
Het |
| Septin12 |
A |
G |
16: 4,810,055 (GRCm39) |
V160A |
possibly damaging |
Het |
| Sgo1 |
T |
C |
17: 53,986,295 (GRCm39) |
S299G |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,076,140 (GRCm39) |
N601S |
possibly damaging |
Het |
| Slc35b4 |
T |
A |
6: 34,140,296 (GRCm39) |
D152V |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,120,449 (GRCm39) |
Y4187C |
probably damaging |
Het |
| Synj1 |
G |
A |
16: 90,737,371 (GRCm39) |
T1308I |
probably benign |
Het |
| Thap12 |
T |
G |
7: 98,359,438 (GRCm39) |
L106V |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,057,916 (GRCm39) |
M1501T |
possibly damaging |
Het |
| Top2a |
G |
T |
11: 98,891,663 (GRCm39) |
N1153K |
probably benign |
Het |
| Trpm5 |
A |
G |
7: 142,634,723 (GRCm39) |
L658P |
probably damaging |
Het |
| Ttc21b |
G |
A |
2: 66,047,548 (GRCm39) |
A849V |
possibly damaging |
Het |
| Vcf1 |
C |
T |
11: 113,554,215 (GRCm39) |
G160D |
probably damaging |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,750 (GRCm39) |
I287F |
probably damaging |
Het |
| Vmn1r87 |
T |
C |
7: 12,865,745 (GRCm39) |
S181G |
probably damaging |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,115 (GRCm39) |
H643L |
probably benign |
Het |
| Washc5 |
G |
A |
15: 59,238,041 (GRCm39) |
R228C |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,117,408 (GRCm39) |
S719P |
probably damaging |
Het |
| Xrcc3 |
G |
T |
12: 111,774,336 (GRCm39) |
D164E |
probably benign |
Het |
| Zc2hc1b |
G |
A |
10: 13,044,529 (GRCm39) |
R45C |
probably damaging |
Het |
| Zfp335 |
A |
G |
2: 164,737,912 (GRCm39) |
Y900H |
probably damaging |
Het |
| Zfp512b |
G |
A |
2: 181,228,875 (GRCm39) |
R697C |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,448,561 (GRCm39) |
Y410H |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,448,696 (GRCm39) |
C455S |
probably damaging |
Het |
| Zfp605 |
C |
T |
5: 110,275,157 (GRCm39) |
Q92* |
probably null |
Het |
| Zfp64 |
C |
T |
2: 168,767,585 (GRCm39) |
D676N |
probably damaging |
Het |
|
| Other mutations in Specc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Specc1
|
APN |
11 |
62,008,835 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01953:Specc1
|
APN |
11 |
62,009,122 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02244:Specc1
|
APN |
11 |
62,019,194 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02257:Specc1
|
APN |
11 |
62,009,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02512:Specc1
|
APN |
11 |
62,009,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03147:Specc1
|
UTSW |
11 |
62,009,108 (GRCm39) |
missense |
probably benign |
|
|
R0039:Specc1
|
UTSW |
11 |
61,920,195 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0114:Specc1
|
UTSW |
11 |
62,037,139 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0635:Specc1
|
UTSW |
11 |
62,009,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Specc1
|
UTSW |
11 |
62,047,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1604:Specc1
|
UTSW |
11 |
61,933,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Specc1
|
UTSW |
11 |
62,019,218 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1719:Specc1
|
UTSW |
11 |
62,019,218 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1739:Specc1
|
UTSW |
11 |
62,009,644 (GRCm39) |
nonsense |
probably null |
|
|
R1757:Specc1
|
UTSW |
11 |
62,010,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1990:Specc1
|
UTSW |
11 |
61,920,120 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1991:Specc1
|
UTSW |
11 |
61,920,120 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2063:Specc1
|
UTSW |
11 |
62,009,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2071:Specc1
|
UTSW |
11 |
62,008,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2245:Specc1
|
UTSW |
11 |
62,022,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3415:Specc1
|
UTSW |
11 |
62,009,245 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3831:Specc1
|
UTSW |
11 |
62,008,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3890:Specc1
|
UTSW |
11 |
62,042,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3891:Specc1
|
UTSW |
11 |
62,042,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4367:Specc1
|
UTSW |
11 |
62,009,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4489:Specc1
|
UTSW |
11 |
62,042,653 (GRCm39) |
splice site |
probably null |
|
|
R4580:Specc1
|
UTSW |
11 |
62,110,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4852:Specc1
|
UTSW |
11 |
62,102,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Specc1
|
UTSW |
11 |
62,009,784 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5016:Specc1
|
UTSW |
11 |
62,009,783 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5416:Specc1
|
UTSW |
11 |
62,009,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5650:Specc1
|
UTSW |
11 |
62,008,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6158:Specc1
|
UTSW |
11 |
62,008,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6329:Specc1
|
UTSW |
11 |
62,047,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Specc1
|
UTSW |
11 |
62,047,418 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6395:Specc1
|
UTSW |
11 |
62,023,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6653:Specc1
|
UTSW |
11 |
62,037,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6893:Specc1
|
UTSW |
11 |
62,023,279 (GRCm39) |
missense |
probably benign |
|
|
R6898:Specc1
|
UTSW |
11 |
62,009,162 (GRCm39) |
missense |
probably benign |
|
|
R7054:Specc1
|
UTSW |
11 |
62,008,604 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7294:Specc1
|
UTSW |
11 |
62,009,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7376:Specc1
|
UTSW |
11 |
62,009,078 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7605:Specc1
|
UTSW |
11 |
62,102,506 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7621:Specc1
|
UTSW |
11 |
62,019,210 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7804:Specc1
|
UTSW |
11 |
62,096,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7900:Specc1
|
UTSW |
11 |
62,110,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8310:Specc1
|
UTSW |
11 |
62,023,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8319:Specc1
|
UTSW |
11 |
62,009,501 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9081:Specc1
|
UTSW |
11 |
62,010,051 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9109:Specc1
|
UTSW |
11 |
62,102,464 (GRCm39) |
splice site |
probably null |
|
|
R9361:Specc1
|
UTSW |
11 |
62,037,144 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Specc1
|
UTSW |
11 |
62,096,249 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1177:Specc1
|
UTSW |
11 |
62,009,593 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTACCTGAAAGAAGTCTGTG -3'
(R):5'- AGCTGCACAGGTAGGTACATC -3'
Sequencing Primer
(F):5'- GTCTGTGATCATCAAGCAGAAC -3'
(R):5'- GCTGCACAGGTAGGTACATCTAACC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation