Incidental Mutation 'IGL02137:Sox10'
| ID |
281364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sox10
|
| Ensembl Gene |
ENSMUSG00000033006 |
| Gene Name |
SRY (sex determining region Y)-box 10 |
| Synonyms |
Sox21, gt |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02137
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
79039113-79048690 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 79043393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 52
(D52E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040019]
[ENSMUST00000230261]
[ENSMUST00000230532]
|
| AlphaFold |
Q04888 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040019
AA Change: D213E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039466
Gene: ENSMUSG00000033006
AA Change: D213E
| 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: ENSMUST00000230261
AA Change: D52E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230532
AA Change: D213E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230891
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595M18Rik |
T |
C |
X: 80,501,262 (GRCm39) |
D116G |
probably benign |
Het |
| Acp2 |
G |
T |
2: 91,034,028 (GRCm39) |
G66V |
probably damaging |
Het |
| Adam32 |
C |
T |
8: 25,362,610 (GRCm39) |
G605D |
probably damaging |
Het |
| Adam4 |
T |
C |
12: 81,467,877 (GRCm39) |
D248G |
possibly damaging |
Het |
| Adamts15 |
C |
A |
9: 30,821,956 (GRCm39) |
G494W |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,283,338 (GRCm39) |
N190K |
probably damaging |
Het |
| Bach2 |
C |
T |
4: 32,501,621 (GRCm39) |
|
probably benign |
Het |
| Bloc1s1 |
T |
C |
10: 128,758,517 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
G |
T |
4: 149,017,925 (GRCm39) |
A405S |
possibly damaging |
Het |
| Cplx4 |
T |
C |
18: 66,090,125 (GRCm39) |
D98G |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,134,349 (GRCm39) |
N1553D |
probably benign |
Het |
| Erich5 |
G |
A |
15: 34,470,900 (GRCm39) |
C43Y |
probably damaging |
Het |
| Exosc10 |
A |
C |
4: 148,645,590 (GRCm39) |
R123S |
probably damaging |
Het |
| Hoatz |
T |
C |
9: 50,997,408 (GRCm39) |
|
probably benign |
Het |
| Inpp5f |
T |
C |
7: 128,296,853 (GRCm39) |
V377A |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,620,700 (GRCm39) |
|
probably benign |
Het |
| Mrps17 |
G |
A |
5: 129,793,847 (GRCm39) |
V14M |
probably benign |
Het |
| Mtrr |
G |
A |
13: 68,716,920 (GRCm39) |
S431F |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,068,817 (GRCm39) |
|
probably null |
Het |
| Nsfl1c |
T |
A |
2: 151,351,509 (GRCm39) |
I291N |
probably damaging |
Het |
| Ntsr1 |
T |
A |
2: 180,180,628 (GRCm39) |
|
probably null |
Het |
| Or4n4 |
T |
C |
14: 50,519,135 (GRCm39) |
T192A |
probably benign |
Het |
| Park7 |
T |
C |
4: 150,988,288 (GRCm39) |
I102M |
probably benign |
Het |
| Pik3c2a |
T |
A |
7: 115,950,039 (GRCm39) |
Q1326L |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,648,025 (GRCm39) |
D693G |
probably benign |
Het |
| Rep15 |
G |
A |
6: 146,934,845 (GRCm39) |
R228H |
probably benign |
Het |
| Slc25a1 |
A |
G |
16: 17,745,234 (GRCm39) |
V100A |
probably benign |
Het |
| Slc9a4 |
T |
C |
1: 40,640,059 (GRCm39) |
F284L |
possibly damaging |
Het |
| St3gal5 |
C |
A |
6: 72,105,266 (GRCm39) |
T6N |
probably benign |
Het |
| Tbc1d22a |
A |
G |
15: 86,183,870 (GRCm39) |
D243G |
probably benign |
Het |
| Tll1 |
T |
C |
8: 64,469,132 (GRCm39) |
Y997C |
possibly damaging |
Het |
| Tmem8b |
A |
T |
4: 43,689,434 (GRCm39) |
H276L |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,609,450 (GRCm39) |
Y12C |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,442,578 (GRCm39) |
M595K |
possibly damaging |
Het |
| Trav18 |
T |
A |
14: 54,069,192 (GRCm39) |
M78K |
probably benign |
Het |
| Uba7 |
A |
G |
9: 107,856,952 (GRCm39) |
|
probably benign |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,864 (GRCm39) |
S51T |
probably damaging |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,761 (GRCm39) |
Y99N |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
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 |
|
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 |
|
R6742:Sox10
|
UTSW |
15 |
79,040,676 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation