Incidental Mutation 'R6158:Specc1'
| ID |
489716 |
| 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 |
044305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R6158 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61847589-62113839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 62008950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 235
(F235L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049836]
[ENSMUST00000092415]
[ENSMUST00000108709]
[ENSMUST00000201015]
[ENSMUST00000201364]
[ENSMUST00000201624]
[ENSMUST00000201671]
[ENSMUST00000201723]
[ENSMUST00000202178]
[ENSMUST00000202179]
[ENSMUST00000202389]
[ENSMUST00000202905]
[ENSMUST00000202744]
|
| AlphaFold |
Q5SXY1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049836
AA Change: F235L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063102
Gene: ENSMUSG00000042331
AA Change: F235L
| 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 damaging
Transcript: ENSMUST00000092415
AA Change: F155L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: F155L
| 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 damaging
Transcript: ENSMUST00000108709
AA Change: F235L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: F235L
| 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 benign
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 |
possibly damaging
Transcript: ENSMUST00000201364
AA Change: F235L
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: F235L
| 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 damaging
Transcript: ENSMUST00000201624
AA Change: F235L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144659
Gene: ENSMUSG00000042331
AA Change: F235L
| 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 damaging
Transcript: ENSMUST00000201671
AA Change: F235L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144030
Gene: ENSMUSG00000042331
AA Change: F235L
| 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 damaging
Transcript: ENSMUST00000201723
AA Change: F155L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144542
Gene: ENSMUSG00000042331
AA Change: F155L
| 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 damaging
Transcript: ENSMUST00000202178
AA Change: F235L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144161
Gene: ENSMUSG00000042331
AA Change: F235L
| 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 damaging
Transcript: ENSMUST00000202179
AA Change: F155L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: F155L
| 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 damaging
Transcript: ENSMUST00000202389
AA Change: F235L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: F235L
| 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 damaging
Transcript: ENSMUST00000202905
AA Change: F235L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: F235L
| 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 |
noncoding transcript
Transcript: ENSMUST00000201866
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202744
|
| SMART Domains |
Protein: ENSMUSP00000144483
Gene: ENSMUSG00000042331
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
113 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0731 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.5%
- 20x: 92.6%
|
| Validation Efficiency |
98% (65/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,217,410 (GRCm39) |
V793A |
possibly damaging |
Het |
| 2900092C05Rik |
A |
G |
7: 12,246,599 (GRCm39) |
T32A |
probably benign |
Het |
| Adprhl1 |
C |
T |
8: 13,274,977 (GRCm39) |
V594M |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,496,220 (GRCm39) |
Y845N |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,040,778 (GRCm39) |
I575L |
probably benign |
Het |
| Aurka |
A |
C |
2: 172,205,516 (GRCm39) |
|
probably null |
Het |
| C1qtnf5 |
A |
T |
9: 44,020,267 (GRCm39) |
|
probably benign |
Het |
| Cacnb2 |
A |
G |
2: 14,990,412 (GRCm39) |
D454G |
possibly damaging |
Het |
| Chchd5 |
T |
C |
2: 128,972,437 (GRCm39) |
L87P |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,793,671 (GRCm39) |
R1377L |
unknown |
Het |
| Cpne8 |
A |
C |
15: 90,456,191 (GRCm39) |
S191A |
probably damaging |
Het |
| Dhx30 |
A |
T |
9: 109,916,098 (GRCm39) |
I671N |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,495,642 (GRCm39) |
K1423N |
possibly damaging |
Het |
| Dnm3 |
T |
C |
1: 162,148,556 (GRCm39) |
M272V |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,037,411 (GRCm39) |
S3688C |
possibly damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,285,401 (GRCm39) |
L1407F |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,378,037 (GRCm39) |
S410P |
probably damaging |
Het |
| Gm11565 |
T |
A |
11: 99,805,744 (GRCm39) |
C45* |
probably null |
Het |
| Gngt1 |
A |
T |
6: 3,994,311 (GRCm39) |
R30* |
probably null |
Het |
| Htt |
T |
C |
5: 35,064,430 (GRCm39) |
I2943T |
possibly damaging |
Het |
| Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
| Lmo7 |
T |
A |
14: 102,137,573 (GRCm39) |
D247E |
probably benign |
Het |
| Mastl |
G |
T |
2: 23,022,784 (GRCm39) |
N646K |
possibly damaging |
Het |
| Mei4 |
G |
T |
9: 81,809,629 (GRCm39) |
L237F |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,969,430 (GRCm39) |
P170S |
possibly damaging |
Het |
| Mgam |
T |
A |
6: 40,734,648 (GRCm39) |
I896K |
probably damaging |
Het |
| Mix23 |
T |
A |
16: 35,910,299 (GRCm39) |
V118D |
probably damaging |
Het |
| Moxd1 |
T |
A |
10: 24,160,675 (GRCm39) |
C443S |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 113,022,038 (GRCm39) |
N451K |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,121,602 (GRCm39) |
I768V |
probably benign |
Het |
| Nos1 |
A |
C |
5: 118,005,639 (GRCm39) |
I120L |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,393,434 (GRCm39) |
V345A |
probably benign |
Het |
| Or1j15 |
A |
T |
2: 36,459,128 (GRCm39) |
T173S |
probably benign |
Het |
| Or2aj5 |
C |
A |
16: 19,424,675 (GRCm39) |
V248F |
probably damaging |
Het |
| Or4c11c |
T |
C |
2: 88,661,490 (GRCm39) |
F10L |
probably damaging |
Het |
| Or5t15 |
A |
G |
2: 86,681,859 (GRCm39) |
L61P |
possibly damaging |
Het |
| Or8g50 |
C |
T |
9: 39,648,372 (GRCm39) |
T87I |
probably benign |
Het |
| Pdzph1 |
T |
G |
17: 59,280,622 (GRCm39) |
Q553H |
probably damaging |
Het |
| Piwil1 |
T |
A |
5: 128,824,940 (GRCm39) |
L546* |
probably null |
Het |
| Pla2g4f |
T |
C |
2: 120,131,552 (GRCm39) |
T724A |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,266,596 (GRCm39) |
M660K |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,679,767 (GRCm39) |
D103G |
possibly damaging |
Het |
| Rnf186 |
A |
G |
4: 138,694,565 (GRCm39) |
D35G |
probably damaging |
Het |
| Rock2 |
A |
G |
12: 17,004,919 (GRCm39) |
D424G |
probably benign |
Het |
| Scg2 |
A |
T |
1: 79,413,117 (GRCm39) |
D495E |
probably damaging |
Het |
| Slc39a2 |
G |
A |
14: 52,131,681 (GRCm39) |
|
probably null |
Het |
| Snrnp48 |
T |
A |
13: 38,394,212 (GRCm39) |
Y100* |
probably null |
Het |
| Spaca1 |
A |
G |
4: 34,029,176 (GRCm39) |
M99T |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,283,802 (GRCm39) |
|
probably null |
Het |
| Swap70 |
T |
A |
7: 109,869,230 (GRCm39) |
M341K |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,036,487 (GRCm39) |
D67G |
probably benign |
Het |
| Tmem135 |
T |
A |
7: 88,805,652 (GRCm39) |
I251F |
probably benign |
Het |
| Tmem87a |
A |
T |
2: 120,190,584 (GRCm39) |
|
probably null |
Het |
| Tom1l2 |
C |
T |
11: 60,123,753 (GRCm39) |
D128N |
probably damaging |
Het |
| Tpx2 |
C |
A |
2: 152,715,024 (GRCm39) |
H82N |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,738,733 (GRCm39) |
C738S |
possibly damaging |
Het |
| Ttyh1 |
A |
G |
7: 4,128,561 (GRCm39) |
T153A |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,566,566 (GRCm39) |
G1199S |
probably benign |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,274 (GRCm39) |
N108K |
probably benign |
Het |
| Vmn2r63 |
T |
A |
7: 42,583,104 (GRCm39) |
D37V |
probably damaging |
Het |
| Vwce |
C |
T |
19: 10,621,585 (GRCm39) |
R206C |
possibly damaging |
Het |
| Wrn |
G |
T |
8: 33,809,200 (GRCm39) |
F265L |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,363 (GRCm39) |
C479* |
probably null |
Het |
| Zfp831 |
A |
T |
2: 174,485,651 (GRCm39) |
T109S |
possibly damaging |
Het |
| Znfx1 |
G |
T |
2: 166,898,646 (GRCm39) |
Q93K |
probably benign |
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 |
|
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 |
|
R7560:Specc1
|
UTSW |
11 |
62,019,235 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- GGTACGAGAACTTCTGGCAG -3'
(R):5'- GCTTGAAGACCCTGATGTCC -3'
Sequencing Primer
(F):5'- GAAGCCAAAACCAAAGACAGTG -3'
(R):5'- TTGAAGACCCTGATGTCCGCAAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation