Incidental Mutation 'R6742:Sox10'
| ID |
530511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox10
|
| Ensembl Gene |
ENSMUSG00000033006 |
| Gene Name |
SRY (sex determining region Y)-box 10 |
| Synonyms |
Sox21, gt |
| MMRRC Submission |
044859-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6742 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
79039113-79048690 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79040676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 127
(N127S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040019]
[ENSMUST00000040077]
[ENSMUST00000229973]
[ENSMUST00000230261]
[ENSMUST00000230271]
[ENSMUST00000230532]
|
| AlphaFold |
Q04888 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040019
AA Change: N288S
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039466
Gene: ENSMUSG00000033006
AA Change: N288S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sox_N
|
12 |
93 |
1.8e-31 |
PFAM |
|
HMG
|
103 |
173 |
8.16e-27 |
SMART |
|
low complexity region
|
183 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040077
|
| SMART Domains |
Protein: ENSMUSP00000043566
Gene: ENSMUSG00000033020
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
37 |
N/A |
INTRINSIC |
|
Pfam:RNA_pol_Rpb6
|
51 |
104 |
2.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229978
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230261
AA Change: N127S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230271
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230532
AA Change: N288S
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for null mutations lack peripheral glial cells, melanocytes, and autonomic and enteric neurons, and die neonatally or sooner. Heterozygotes exhibit white spotting and megacolon. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,654,995 (GRCm39) |
R1440G |
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,278,168 (GRCm39) |
L3116Q |
probably damaging |
Het |
| Adgb |
G |
A |
10: 10,287,593 (GRCm39) |
H55Y |
probably damaging |
Het |
| AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,827,412 (GRCm39) |
|
probably benign |
Het |
| Ccdc127 |
G |
T |
13: 74,501,042 (GRCm39) |
G20W |
probably damaging |
Het |
| Ccdc149 |
G |
A |
5: 52,562,475 (GRCm39) |
Q184* |
probably null |
Het |
| Cntrob |
G |
A |
11: 69,213,749 (GRCm39) |
P14S |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,077,629 (GRCm39) |
E1288G |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,113,640 (GRCm39) |
D1350G |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,701,279 (GRCm39) |
T1990A |
probably damaging |
Het |
| Itga2 |
T |
A |
13: 114,973,061 (GRCm39) |
N1166I |
possibly damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,085,175 (GRCm39) |
C216S |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,361,132 (GRCm39) |
D557G |
probably benign |
Het |
| Lrrc32 |
T |
C |
7: 98,148,039 (GRCm39) |
V273A |
probably benign |
Het |
| Nlrp4f |
C |
T |
13: 65,335,254 (GRCm39) |
|
probably null |
Het |
| Ntng2 |
T |
G |
2: 29,090,940 (GRCm39) |
M360L |
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 133,003,559 (GRCm39) |
S504G |
probably benign |
Het |
| Ppfia4 |
A |
C |
1: 134,256,909 (GRCm39) |
L104R |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,564,879 (GRCm39) |
S203P |
probably damaging |
Het |
| Rbl1 |
G |
A |
2: 157,011,918 (GRCm39) |
T679I |
probably benign |
Het |
| Rnase4 |
G |
T |
14: 51,342,486 (GRCm39) |
R70L |
probably benign |
Het |
| Rnf146 |
A |
C |
10: 29,223,528 (GRCm39) |
D119E |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,275,908 (GRCm39) |
H485R |
probably benign |
Het |
| Rwdd4a |
T |
A |
8: 48,000,998 (GRCm39) |
|
probably null |
Het |
| Scarf2 |
G |
A |
16: 17,624,351 (GRCm39) |
C552Y |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Speer4a1 |
A |
T |
5: 26,241,054 (GRCm39) |
|
probably null |
Het |
| Tars1 |
A |
T |
15: 11,394,427 (GRCm39) |
I70N |
probably damaging |
Het |
| Thsd7a |
C |
T |
6: 12,408,815 (GRCm39) |
V736M |
probably damaging |
Het |
| Timp3 |
G |
A |
10: 86,136,742 (GRCm39) |
V9M |
probably benign |
Het |
| Tnfrsf1a |
A |
T |
6: 125,333,911 (GRCm39) |
N55Y |
probably damaging |
Het |
| Trim43a |
G |
A |
9: 88,470,399 (GRCm39) |
V402I |
possibly damaging |
Het |
| Tshz2 |
A |
G |
2: 169,725,677 (GRCm39) |
D91G |
probably damaging |
Het |
| Ubac1 |
T |
C |
2: 25,895,418 (GRCm39) |
D345G |
possibly damaging |
Het |
| Usp4 |
G |
A |
9: 108,251,438 (GRCm39) |
V538I |
possibly damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,306,917 (GRCm39) |
Y475F |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,308,396 (GRCm39) |
V614E |
probably damaging |
Het |
| Wfdc2 |
A |
T |
2: 164,404,706 (GRCm39) |
T21S |
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp78 |
A |
G |
7: 6,381,277 (GRCm39) |
E109G |
probably damaging |
Het |
| Zfp873 |
C |
A |
10: 81,894,256 (GRCm39) |
A19D |
probably damaging |
Het |
| Zfp935 |
T |
A |
13: 62,602,293 (GRCm39) |
K302N |
probably damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,965,114 (GRCm39) |
S401N |
probably benign |
Het |
|
| Other mutations in Sox10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01645:Sox10
|
APN |
15 |
79,040,539 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01693:Sox10
|
APN |
15 |
79,040,473 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02137:Sox10
|
APN |
15 |
79,043,393 (GRCm39) |
missense |
probably benign |
0.01 |
|
Dalmatian
|
UTSW |
15 |
79,047,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Kat
|
UTSW |
15 |
79,047,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0479:Sox10
|
UTSW |
15 |
79,047,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0589:Sox10
|
UTSW |
15 |
79,047,485 (GRCm39) |
splice site |
probably benign |
|
|
R0624:Sox10
|
UTSW |
15 |
79,043,586 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0679:Sox10
|
UTSW |
15 |
79,040,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0835:Sox10
|
UTSW |
15 |
79,040,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1517:Sox10
|
UTSW |
15 |
79,043,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1635:Sox10
|
UTSW |
15 |
79,040,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4089:Sox10
|
UTSW |
15 |
79,040,563 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5533:Sox10
|
UTSW |
15 |
79,040,502 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5883:Sox10
|
UTSW |
15 |
79,040,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7457:Sox10
|
UTSW |
15 |
79,040,339 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7514:Sox10
|
UTSW |
15 |
79,040,421 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8356:Sox10
|
UTSW |
15 |
79,040,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9242:Sox10
|
UTSW |
15 |
79,040,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Sox10
|
UTSW |
15 |
79,040,230 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACCTGGGCTTTGGCATC -3'
(R):5'- TAGACCATCTTCTAGGGCCCAC -3'
Sequencing Primer
(F):5'- TTTGGCATCCACACCAGG -3'
(R):5'- GCCCACTTGCCTCTAACATG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation