Incidental Mutation 'R5477:Sox7'
ID |
434132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sox7
|
Ensembl Gene |
ENSMUSG00000063060 |
Gene Name |
SRY (sex determining region Y)-box 7 |
Synonyms |
|
MMRRC Submission |
043038-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5477 (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 64185945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 327
(Y327C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078597
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079652]
|
AlphaFold |
P40646 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079652
AA Change: Y327C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078597 Gene: ENSMUSG00000063060 AA Change: Y327C
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: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 90.9%
|
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 |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Aacs |
T |
C |
5: 125,588,984 (GRCm39) |
Y421H |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,251,298 (GRCm39) |
K2890R |
possibly damaging |
Het |
Aff4 |
T |
A |
11: 53,299,299 (GRCm39) |
|
probably null |
Het |
Brd10 |
A |
G |
19: 29,731,518 (GRCm39) |
V498A |
probably benign |
Het |
Cntn4 |
A |
T |
6: 106,650,911 (GRCm39) |
Q698L |
possibly damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
Dmrt1 |
A |
G |
19: 25,487,164 (GRCm39) |
M157V |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Gm10521 |
T |
A |
1: 171,724,067 (GRCm39) |
M126K |
unknown |
Het |
Hs2st1 |
A |
G |
3: 144,262,709 (GRCm39) |
|
probably benign |
Het |
Lats2 |
T |
C |
14: 57,937,010 (GRCm39) |
D113G |
probably benign |
Het |
Myo15a |
A |
C |
11: 60,368,503 (GRCm39) |
D421A |
probably damaging |
Het |
Or5k15 |
T |
A |
16: 58,710,107 (GRCm39) |
I159F |
probably benign |
Het |
Or5k17 |
A |
T |
16: 58,746,393 (GRCm39) |
D180E |
possibly damaging |
Het |
Or6z6 |
T |
C |
7: 6,491,570 (GRCm39) |
Y94C |
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,784,308 (GRCm39) |
D234V |
probably benign |
Het |
Parl |
G |
T |
16: 20,098,824 (GRCm39) |
T311K |
possibly damaging |
Het |
Pias3 |
G |
A |
3: 96,612,319 (GRCm39) |
R557H |
probably damaging |
Het |
Pskh1 |
C |
T |
8: 106,656,511 (GRCm39) |
R396C |
probably damaging |
Het |
Rc3h2 |
T |
C |
2: 37,289,642 (GRCm39) |
D390G |
possibly damaging |
Het |
Ryr2 |
G |
T |
13: 11,720,542 (GRCm39) |
P2702Q |
probably damaging |
Het |
Senp6 |
C |
A |
9: 80,051,125 (GRCm39) |
A961D |
probably damaging |
Het |
Slc27a3 |
A |
G |
3: 90,294,146 (GRCm39) |
S503P |
probably benign |
Het |
Slc39a12 |
T |
C |
2: 14,394,193 (GRCm39) |
V21A |
possibly damaging |
Het |
Spdl1 |
A |
T |
11: 34,713,037 (GRCm39) |
F288I |
possibly damaging |
Het |
Ssbp2 |
T |
A |
13: 91,812,244 (GRCm39) |
M127K |
probably damaging |
Het |
Sspo |
A |
C |
6: 48,475,327 (GRCm39) |
S5032R |
possibly damaging |
Het |
Sycp1 |
A |
T |
3: 102,726,206 (GRCm39) |
W973R |
probably damaging |
Het |
Tm4sf5 |
C |
T |
11: 70,401,174 (GRCm39) |
T130I |
probably benign |
Het |
Top2a |
T |
A |
11: 98,907,306 (GRCm39) |
K175* |
probably null |
Het |
Trim30d |
T |
A |
7: 104,121,347 (GRCm39) |
Y316F |
probably damaging |
Het |
Vmn1r124 |
G |
A |
7: 20,993,653 (GRCm39) |
P297L |
probably damaging |
Het |
Zfp715 |
T |
C |
7: 42,949,378 (GRCm39) |
Y194C |
probably damaging |
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 |
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 |
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'- CCCAGGGGTTTCTATGATGTCC -3'
(R):5'- CTCAGTGCTTCATAGGGAGG -3'
Sequencing Primer
(F):5'- ATGATGTCCTCTGTTTCTGGATGTCC -3'
(R):5'- TGGGCCAGGCTCCATTC -3'
|
Posted On |
2016-10-06 |