Incidental Mutation 'IGL03073:Sox1'
| ID |
417593 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sox1
|
| Ensembl Gene |
ENSMUSG00000096014 |
| Gene Name |
SRY (sex determining region Y)-box 1 |
| Synonyms |
Sox-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.376)
|
| Stock # |
IGL03073
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
12445519-12449555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12446625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 89
(W89R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000180353]
|
| AlphaFold |
P53783 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000080795
|
| SMART Domains |
Protein: ENSMUSP00000079612
Gene: ENSMUSG00000047935
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174915
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180353
AA Change: W89R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137203
Gene: ENSMUSG00000096014
AA Change: W89R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
43 |
N/A |
INTRINSIC |
|
HMG
|
50 |
120 |
1.55e-27 |
SMART |
|
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
316 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211492
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless 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. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit lens opacity associated with a lack of gamma crystallin expression, microphthalmia, episodic seizures, sexual dysfunction, impaired maternal nurturing, and reduced lifespan. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
T |
C |
7: 124,930,735 (GRCm39) |
|
noncoding transcript |
Het |
| Actr6 |
A |
G |
10: 89,562,556 (GRCm39) |
S108P |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,103,940 (GRCm39) |
N568K |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,488,703 (GRCm39) |
L408P |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,251,152 (GRCm39) |
V459A |
probably damaging |
Het |
| Atp2b1 |
C |
T |
10: 98,835,713 (GRCm39) |
T486M |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,921,941 (GRCm39) |
|
probably benign |
Het |
| Espnl |
T |
C |
1: 91,272,278 (GRCm39) |
I502T |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,148,406 (GRCm39) |
Y674H |
probably damaging |
Het |
| Gnaq |
T |
A |
19: 16,293,470 (GRCm39) |
N137K |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,864,791 (GRCm39) |
D1196E |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,717,245 (GRCm39) |
|
probably benign |
Het |
| Lypd9 |
A |
T |
11: 58,338,277 (GRCm39) |
D38E |
probably damaging |
Het |
| Mcf2l |
C |
A |
8: 13,050,004 (GRCm39) |
H313N |
probably damaging |
Het |
| Mdh1b |
C |
T |
1: 63,760,646 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
G |
A |
2: 14,310,153 (GRCm39) |
V805I |
probably damaging |
Het |
| Ncam2 |
T |
G |
16: 81,418,235 (GRCm39) |
D763E |
possibly damaging |
Het |
| Ncapg2 |
T |
G |
12: 116,415,894 (GRCm39) |
H1091Q |
probably benign |
Het |
| Or5b112 |
T |
G |
19: 13,319,386 (GRCm39) |
I88R |
probably benign |
Het |
| Or8h8 |
A |
G |
2: 86,753,697 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,707,816 (GRCm39) |
D886V |
possibly damaging |
Het |
| Pdlim4 |
A |
G |
11: 53,954,467 (GRCm39) |
V21A |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,878,289 (GRCm39) |
S24P |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,195 (GRCm39) |
M940T |
probably benign |
Het |
| Snx14 |
A |
G |
9: 88,304,949 (GRCm39) |
|
probably null |
Het |
| Stx12 |
T |
C |
4: 132,585,760 (GRCm39) |
M207V |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,426,435 (GRCm39) |
T1154A |
probably damaging |
Het |
| Tmcc3 |
T |
G |
10: 94,414,813 (GRCm39) |
S172A |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,889,461 (GRCm39) |
I1773F |
possibly damaging |
Het |
| Tshz3 |
A |
T |
7: 36,470,170 (GRCm39) |
N720Y |
probably damaging |
Het |
| Usp19 |
G |
A |
9: 108,373,002 (GRCm39) |
|
probably benign |
Het |
| Vmn1r170 |
A |
C |
7: 23,306,273 (GRCm39) |
Q225P |
probably damaging |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,528 (GRCm39) |
I293V |
possibly damaging |
Het |
|
| Other mutations in Sox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02323:Sox1
|
APN |
8 |
12,446,692 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0305:Sox1
|
UTSW |
8 |
12,446,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2258:Sox1
|
UTSW |
8 |
12,446,927 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4022:Sox1
|
UTSW |
8 |
12,446,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7140:Sox1
|
UTSW |
8 |
12,447,405 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7502:Sox1
|
UTSW |
8 |
12,446,913 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7651:Sox1
|
UTSW |
8 |
12,446,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7830:Sox1
|
UTSW |
8 |
12,446,955 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8244:Sox1
|
UTSW |
8 |
12,446,468 (GRCm39) |
small deletion |
probably benign |
|
|
R9229:Sox1
|
UTSW |
8 |
12,447,390 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2016-08-02 |
Incidental Mutation