Incidental Mutation 'R4350:Sox7'
| ID |
328479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox7
|
| Ensembl Gene |
ENSMUSG00000063060 |
| Gene Name |
SRY (sex determining region Y)-box 7 |
| Synonyms |
|
| MMRRC Submission |
041105-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
64181155-64188181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64185995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 344
(T344A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079652]
|
| AlphaFold |
P40646 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079652
AA Change: T344A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000078597
Gene: ENSMUSG00000063060
AA Change: T344A
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,498,020 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,555,119 (GRCm39) |
D402G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,827,640 (GRCm39) |
E954G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cst13 |
A |
G |
2: 148,672,169 (GRCm39) |
M115V |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,648,525 (GRCm39) |
Y722N |
probably damaging |
Het |
| Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Epha7 |
T |
C |
4: 28,950,393 (GRCm39) |
V732A |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,444,036 (GRCm39) |
I457V |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,848,220 (GRCm39) |
F165L |
probably damaging |
Het |
| Gcn1 |
G |
T |
5: 115,741,389 (GRCm39) |
R1476L |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,012 (GRCm39) |
S256G |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
| Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rchy1 |
T |
C |
5: 92,105,813 (GRCm39) |
D45G |
probably damaging |
Het |
| Rftn2 |
T |
C |
1: 55,233,440 (GRCm39) |
T372A |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,006,293 (GRCm39) |
P896S |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rpl7a-ps3 |
T |
C |
15: 36,308,283 (GRCm39) |
|
noncoding transcript |
Het |
| Sppl2b |
T |
C |
10: 80,698,560 (GRCm39) |
Y127H |
probably benign |
Het |
| Srsf12 |
T |
C |
4: 33,223,612 (GRCm39) |
V37A |
possibly damaging |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,118,154 (GRCm39) |
C1705S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,691,117 (GRCm39) |
T474A |
probably benign |
Het |
| Tubgcp6 |
G |
A |
15: 88,988,198 (GRCm39) |
P925L |
probably benign |
Het |
|
| Other mutations in Sox7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00973:Sox7
|
APN |
14 |
64,185,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGGGTTTCTATGATGTCC -3'
(R):5'- GTTTCTGCTCAGCTCAGTGC -3'
Sequencing Primer
(F):5'- ATGATGTCCTCTGTTTCTGGATGTCC -3'
(R):5'- CTCAGTGCTTCATAGGGAGGAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation