Incidental Mutation 'IGL00973:Sox7'
| ID |
28988 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sox7
|
| Ensembl Gene |
ENSMUSG00000063060 |
| Gene Name |
SRY (sex determining region Y)-box 7 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00973
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
64181155-64188181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64185636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 224
(H224R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079652]
|
| AlphaFold |
P40646 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079652
AA Change: H224R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000078597
Gene: ENSMUSG00000063060
AA Change: H224R
| Domain | Start | End | E-Value | Type |
|---|
|
HMG
|
44 |
114 |
8.74e-27 |
SMART |
|
Pfam:Sox_C_TAD
|
171 |
378 |
1.4e-58 |
PFAM |
|
| 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 regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most embryos homozygous for a knock-out allele exhibit embryonic growth retardation, abnormal vitelline vascular remodeling and pericardial edema, and die during organogenesis. Depending on the genetic background, a portion of heterozygotes can develop congenital retrosternal diaphragmatic hernias. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp10a |
G |
T |
7: 58,457,218 (GRCm39) |
D906Y |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,173,882 (GRCm39) |
K32R |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,941,090 (GRCm39) |
A636V |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,098,245 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
C |
5: 104,324,758 (GRCm39) |
K374Q |
possibly damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,129,791 (GRCm39) |
R962C |
probably damaging |
Het |
| Frrs1l |
T |
C |
4: 56,972,369 (GRCm39) |
K111E |
probably damaging |
Het |
| Galnt5 |
A |
G |
2: 57,888,951 (GRCm39) |
T184A |
probably benign |
Het |
| Glud1 |
C |
T |
14: 34,041,899 (GRCm39) |
T169I |
probably damaging |
Het |
| Hinfp |
T |
G |
9: 44,209,436 (GRCm39) |
D283A |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,273,833 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
A |
T |
14: 120,106,819 (GRCm39) |
Y409F |
possibly damaging |
Het |
| Ighv15-2 |
A |
T |
12: 114,528,490 (GRCm39) |
V20D |
possibly damaging |
Het |
| Kif17 |
A |
G |
4: 138,002,368 (GRCm39) |
T91A |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,911,885 (GRCm39) |
|
probably benign |
Het |
| Myo1e |
C |
T |
9: 70,246,069 (GRCm39) |
T420M |
probably damaging |
Het |
| Or8b12c |
C |
A |
9: 37,716,078 (GRCm39) |
S290R |
probably damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,888,593 (GRCm39) |
Y316* |
probably null |
Het |
| Plekha1 |
T |
A |
7: 130,512,743 (GRCm39) |
V313D |
probably damaging |
Het |
| Polr1e |
C |
A |
4: 45,031,364 (GRCm39) |
|
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,607,367 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
A |
1: 119,669,101 (GRCm39) |
M250L |
probably benign |
Het |
| Rtn1 |
A |
T |
12: 72,455,285 (GRCm39) |
L14Q |
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,620,404 (GRCm39) |
|
probably null |
Het |
| Styxl2 |
T |
C |
1: 165,927,027 (GRCm39) |
S862G |
probably benign |
Het |
| Sucla2 |
T |
C |
14: 73,828,347 (GRCm39) |
I318T |
possibly damaging |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,229,408 (GRCm39) |
|
probably benign |
Het |
| Ube2o |
T |
A |
11: 116,432,031 (GRCm39) |
K940M |
probably damaging |
Het |
| Usp20 |
A |
C |
2: 30,894,962 (GRCm39) |
N149T |
probably damaging |
Het |
| Utp6 |
C |
T |
11: 79,846,531 (GRCm39) |
W150* |
probably null |
Het |
| Wdr27 |
A |
C |
17: 15,134,140 (GRCm39) |
H475Q |
probably benign |
Het |
|
| Other mutations in Sox7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0378:Sox7
|
UTSW |
14 |
64,181,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3147:Sox7
|
UTSW |
14 |
64,186,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4350:Sox7
|
UTSW |
14 |
64,185,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4899:Sox7
|
UTSW |
14 |
64,185,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5217:Sox7
|
UTSW |
14 |
64,185,449 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5418:Sox7
|
UTSW |
14 |
64,185,396 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5477:Sox7
|
UTSW |
14 |
64,185,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6603:Sox7
|
UTSW |
14 |
64,185,637 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7216:Sox7
|
UTSW |
14 |
64,185,438 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7312:Sox7
|
UTSW |
14 |
64,185,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7812:Sox7
|
UTSW |
14 |
64,185,681 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8310:Sox7
|
UTSW |
14 |
64,181,275 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8716:Sox7
|
UTSW |
14 |
64,186,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9632:Sox7
|
UTSW |
14 |
64,185,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9710:Sox7
|
UTSW |
14 |
64,185,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Sox7
|
UTSW |
14 |
64,185,314 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation