Incidental Mutation 'R1717:Specc1'
| ID |
191147 |
| 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 |
039750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R1717 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61847589-62113839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62019218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 686
(I686V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049836]
[ENSMUST00000092415]
[ENSMUST00000108709]
[ENSMUST00000201015]
[ENSMUST00000201364]
[ENSMUST00000201624]
[ENSMUST00000201671]
[ENSMUST00000201723]
[ENSMUST00000202178]
[ENSMUST00000202905]
[ENSMUST00000202179]
[ENSMUST00000202389]
[ENSMUST00000202744]
|
| AlphaFold |
Q5SXY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049836
AA Change: I686V
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000063102
Gene: ENSMUSG00000042331
AA Change: I686V
| 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 |
possibly damaging
Transcript: ENSMUST00000092415
AA Change: I606V
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: I606V
| 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 benign
Transcript: ENSMUST00000108709
AA Change: I686V
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: I686V
| 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
AA Change: I26V
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331
AA Change: I26V
| 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: I686V
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: I686V
| 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 benign
Transcript: ENSMUST00000201624
AA Change: I686V
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144659
Gene: ENSMUSG00000042331
AA Change: I686V
| 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 benign
Transcript: ENSMUST00000201671
AA Change: I686V
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144030
Gene: ENSMUSG00000042331
AA Change: I686V
| 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 |
possibly damaging
Transcript: ENSMUST00000201723
AA Change: I606V
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144542
Gene: ENSMUSG00000042331
AA Change: I606V
| 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 |
possibly damaging
Transcript: ENSMUST00000202178
AA Change: I686V
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144161
Gene: ENSMUSG00000042331
AA Change: I686V
| 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 benign
Transcript: ENSMUST00000202905
AA Change: I686V
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: I686V
| 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: ENSMUST00000202179
AA Change: I606V
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: I606V
| 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 benign
Transcript: ENSMUST00000202389
AA Change: I686V
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: I686V
| 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: ENSMUST00000202744
AA Change: I26V
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000144483
Gene: ENSMUSG00000042331
AA Change: I26V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
113 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0790 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
98% (81/83) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732465J04Rik |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT |
10: 95,629,641 (GRCm39) |
|
probably null |
Het |
| 4930583I09Rik |
T |
C |
17: 65,141,444 (GRCm39) |
N53S |
unknown |
Het |
| 4933434E20Rik |
T |
A |
3: 89,963,544 (GRCm39) |
S67T |
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,765,239 (GRCm39) |
I1127V |
possibly damaging |
Het |
| Abcg3 |
G |
A |
5: 105,111,421 (GRCm39) |
Q349* |
probably null |
Het |
| Adam2 |
A |
G |
14: 66,306,007 (GRCm39) |
L158P |
probably damaging |
Het |
| Agrn |
GCTCT |
GCTCTCT |
4: 156,250,976 (GRCm39) |
|
probably null |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Akap11 |
C |
A |
14: 78,750,788 (GRCm39) |
S533I |
probably benign |
Het |
| Aldh1a2 |
A |
T |
9: 71,200,953 (GRCm39) |
N517I |
probably damaging |
Het |
| Aldh4a1 |
A |
T |
4: 139,365,840 (GRCm39) |
H277L |
possibly damaging |
Het |
| Aldh4a1 |
G |
A |
4: 139,361,305 (GRCm39) |
|
probably null |
Het |
| Ankrd27 |
A |
G |
7: 35,327,871 (GRCm39) |
D742G |
possibly damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arhgef7 |
C |
A |
8: 11,858,712 (GRCm39) |
|
probably benign |
Het |
| Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
| Armh4 |
T |
C |
14: 49,989,121 (GRCm39) |
D616G |
probably damaging |
Het |
| Arvcf |
A |
G |
16: 18,220,319 (GRCm39) |
K568E |
possibly damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,364,631 (GRCm39) |
R521W |
probably damaging |
Het |
| Casp16 |
A |
G |
17: 23,771,024 (GRCm39) |
I127T |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,306,547 (GRCm39) |
|
probably benign |
Het |
| Cdh8 |
A |
T |
8: 99,757,337 (GRCm39) |
S754T |
probably damaging |
Het |
| Cel |
A |
G |
2: 28,446,789 (GRCm39) |
Y461H |
probably damaging |
Het |
| Chmp4b |
A |
G |
2: 154,499,240 (GRCm39) |
I47V |
possibly damaging |
Het |
| Col1a1 |
A |
G |
11: 94,839,218 (GRCm39) |
M989V |
unknown |
Het |
| Cpsf1 |
A |
T |
15: 76,486,766 (GRCm39) |
S257T |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 17,266,708 (GRCm39) |
S73T |
possibly damaging |
Het |
| Csnk2a2 |
T |
C |
8: 96,182,436 (GRCm39) |
|
probably null |
Het |
| Dact2 |
A |
T |
17: 14,418,175 (GRCm39) |
W177R |
probably benign |
Het |
| Ddx10 |
A |
G |
9: 53,071,253 (GRCm39) |
V680A |
probably benign |
Het |
| Eif5 |
T |
A |
12: 111,508,651 (GRCm39) |
D215E |
probably benign |
Het |
| Evpl |
C |
T |
11: 116,116,318 (GRCm39) |
A817T |
probably benign |
Het |
| Fmo6 |
T |
A |
1: 162,753,821 (GRCm39) |
R131* |
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,184,857 (GRCm39) |
T680A |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,805,289 (GRCm39) |
V536A |
possibly damaging |
Het |
| Fzd8 |
T |
C |
18: 9,214,364 (GRCm39) |
F482S |
probably damaging |
Het |
| Gabrb1 |
A |
T |
5: 72,265,694 (GRCm39) |
|
probably null |
Het |
| Galnt9 |
T |
G |
5: 110,744,078 (GRCm39) |
I304S |
probably benign |
Het |
| Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
| Gm5334 |
A |
C |
7: 68,268,725 (GRCm39) |
|
noncoding transcript |
Het |
| Grcc10 |
A |
T |
6: 124,717,476 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,734,937 (GRCm39) |
T192A |
probably damaging |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Irgm2 |
T |
A |
11: 58,111,461 (GRCm39) |
L396Q |
probably damaging |
Het |
| Ksr2 |
T |
A |
5: 117,809,514 (GRCm39) |
C426S |
probably damaging |
Het |
| Lair1 |
A |
G |
7: 4,013,788 (GRCm39) |
F153S |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,392,138 (GRCm39) |
H2835R |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,399,534 (GRCm39) |
T2325A |
probably damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,900,580 (GRCm39) |
F295S |
probably damaging |
Het |
| Meis1 |
T |
A |
11: 18,960,608 (GRCm39) |
|
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,484,579 (GRCm39) |
I156K |
probably benign |
Het |
| Mmd2 |
T |
C |
5: 142,561,105 (GRCm39) |
|
probably benign |
Het |
| Morc1 |
A |
G |
16: 48,272,840 (GRCm39) |
I156V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,753,405 (GRCm38) |
T1094A |
possibly damaging |
Het |
| Nckap1 |
A |
G |
2: 80,343,014 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,198,759 (GRCm39) |
I394T |
possibly damaging |
Het |
| Or12e1 |
A |
T |
2: 87,022,247 (GRCm39) |
N72I |
probably benign |
Het |
| Or2t49 |
T |
A |
11: 58,392,885 (GRCm39) |
M166L |
probably benign |
Het |
| Or4e2 |
T |
C |
14: 52,688,296 (GRCm39) |
V142A |
probably benign |
Het |
| Or5as1 |
A |
T |
2: 86,980,150 (GRCm39) |
L285* |
probably null |
Het |
| Or8d1b |
C |
T |
9: 38,887,706 (GRCm39) |
L245F |
probably damaging |
Het |
| Pcdha1 |
T |
C |
18: 37,065,237 (GRCm39) |
S634P |
probably benign |
Het |
| Pcdhb12 |
T |
A |
18: 37,569,841 (GRCm39) |
V329E |
probably damaging |
Het |
| Pcf11 |
A |
T |
7: 92,312,793 (GRCm39) |
D193E |
probably benign |
Het |
| Pcsk1 |
G |
C |
13: 75,258,947 (GRCm39) |
M240I |
probably damaging |
Het |
| Pdc |
T |
A |
1: 150,208,892 (GRCm39) |
I125N |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,082,729 (GRCm39) |
G564S |
probably benign |
Het |
| Rasgrf1 |
G |
T |
9: 89,835,966 (GRCm39) |
Q231H |
probably damaging |
Het |
| Riok1 |
T |
A |
13: 38,236,926 (GRCm39) |
I389N |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,160,135 (GRCm39) |
S50R |
probably benign |
Het |
| Samd13 |
T |
C |
3: 146,352,070 (GRCm39) |
T75A |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,915,876 (GRCm39) |
H1329Y |
possibly damaging |
Het |
| Siglec1 |
T |
C |
2: 130,925,932 (GRCm39) |
N258S |
probably damaging |
Het |
| Slbp |
G |
A |
5: 33,802,946 (GRCm39) |
A126V |
probably benign |
Het |
| Slc12a4 |
A |
T |
8: 106,674,203 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
C |
A |
3: 122,906,203 (GRCm39) |
V1038F |
probably damaging |
Het |
| Tbk1 |
G |
A |
10: 121,397,550 (GRCm39) |
T374I |
probably benign |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmem190 |
T |
C |
7: 4,787,132 (GRCm39) |
L112P |
probably damaging |
Het |
| Tsc2 |
C |
T |
17: 24,816,042 (GRCm39) |
R1715Q |
probably damaging |
Het |
| Ulbp3 |
A |
T |
10: 3,075,050 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,811 (GRCm39) |
L220P |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,392,609 (GRCm39) |
Q816R |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,468,164 (GRCm39) |
I2799T |
probably benign |
Het |
| Zfp105 |
T |
C |
9: 122,759,696 (GRCm39) |
S456P |
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 |
|
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 |
|
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'- CAGCAAGTCTTCTACCGACCTGTG -3'
(R):5'- TCCCAAATGCACTGCCTCTTTCAAG -3'
Sequencing Primer
(F):5'- AGAGTGGTtttttgtttttgtttttg -3'
(R):5'- GCACTGCCTCTTTCAAGAGTTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation