Incidental Mutation 'R7812:Sry'
ID |
601266 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sry
|
Ensembl Gene |
ENSMUSG00000069036 |
Gene Name |
sex determining region of Chr Y |
Synonyms |
Tdy, Tdf |
MMRRC Submission |
045867-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R7812 (G1)
|
Quality Score |
152.457 |
Status
|
Not validated
|
Chromosome |
Y |
Chromosomal Location |
2662471-2663658 bp(-) (GRCm39) |
Type of Mutation |
small deletion (10 aa in frame mutation) |
DNA Base Change (assembly) |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG to GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG
at 2662638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091178]
|
AlphaFold |
Q05738 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091178
|
SMART Domains |
Protein: ENSMUSP00000088717 Gene: ENSMUSG00000069036
Domain | Start | End | E-Value | Type |
HMG
|
4 |
74 |
2.76e-24 |
SMART |
low complexity region
|
144 |
366 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Variations in expression of alleles on specific backgrounds result in partial and/or complete male to female sex reversal. Deletion of alleles results in XY females. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
C |
A |
9: 57,165,141 (GRCm39) |
C411F |
probably damaging |
Het |
Abhd17c |
G |
T |
7: 83,800,624 (GRCm39) |
Y143* |
probably null |
Het |
Acad11 |
T |
G |
9: 103,972,747 (GRCm39) |
L480R |
probably benign |
Het |
Acad8 |
A |
T |
9: 26,890,476 (GRCm39) |
N277K |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,342,938 (GRCm39) |
Y268C |
probably damaging |
Het |
Adm2 |
A |
T |
15: 89,208,367 (GRCm39) |
R102S |
possibly damaging |
Het |
Ambra1 |
A |
T |
2: 91,596,911 (GRCm39) |
M1L |
probably benign |
Het |
Angpt2 |
T |
C |
8: 18,742,161 (GRCm39) |
N465S |
probably benign |
Het |
Arhgap17 |
T |
C |
7: 122,879,290 (GRCm39) |
I820M |
unknown |
Het |
Atf7ip |
G |
A |
6: 136,580,415 (GRCm39) |
R1113Q |
probably damaging |
Het |
Atp5pb |
A |
G |
3: 105,851,157 (GRCm39) |
V180A |
probably benign |
Het |
Auts2 |
C |
T |
5: 131,501,284 (GRCm39) |
R43H |
|
Het |
Cacna1g |
A |
T |
11: 94,334,880 (GRCm39) |
I809N |
probably benign |
Het |
Cand1 |
A |
T |
10: 119,053,864 (GRCm39) |
M158K |
probably benign |
Het |
Cars1 |
T |
A |
7: 143,123,784 (GRCm39) |
I500F |
probably damaging |
Het |
Ccdc18 |
T |
A |
5: 108,328,699 (GRCm39) |
M706K |
probably benign |
Het |
Ccdc180 |
G |
A |
4: 45,906,952 (GRCm39) |
|
probably null |
Het |
Ces1f |
A |
G |
8: 93,984,938 (GRCm39) |
V463A |
probably benign |
Het |
Cndp1 |
G |
T |
18: 84,655,994 (GRCm39) |
D58E |
probably benign |
Het |
Csnk2b |
A |
T |
17: 35,339,431 (GRCm39) |
F21Y |
probably benign |
Het |
Dgkg |
C |
G |
16: 22,385,165 (GRCm39) |
R447T |
probably damaging |
Het |
Dnajc12 |
A |
G |
10: 63,242,905 (GRCm39) |
D141G |
probably benign |
Het |
Edar |
A |
G |
10: 58,465,926 (GRCm39) |
V4A |
probably benign |
Het |
Elf1 |
A |
G |
14: 79,802,998 (GRCm39) |
D117G |
probably damaging |
Het |
Fam124b |
T |
C |
1: 80,191,351 (GRCm39) |
T11A |
probably damaging |
Het |
Fgl2 |
C |
A |
5: 21,577,896 (GRCm39) |
T61K |
probably benign |
Het |
Furin |
T |
C |
7: 80,045,722 (GRCm39) |
N218S |
possibly damaging |
Het |
Gcn1 |
T |
A |
5: 115,731,751 (GRCm39) |
H955Q |
possibly damaging |
Het |
Gucy2e |
A |
G |
11: 69,117,069 (GRCm39) |
I784T |
probably damaging |
Het |
Ice1 |
T |
A |
13: 70,751,124 (GRCm39) |
Q1654L |
possibly damaging |
Het |
Klhl28 |
T |
C |
12: 64,990,363 (GRCm39) |
N526S |
possibly damaging |
Het |
Ldlrad4 |
C |
A |
18: 68,239,742 (GRCm39) |
P54Q |
probably benign |
Het |
Lsm14a |
A |
G |
7: 34,088,301 (GRCm39) |
|
probably benign |
Het |
Mdga1 |
A |
G |
17: 30,062,115 (GRCm39) |
V438A |
probably benign |
Het |
Mrto4 |
A |
G |
4: 139,075,278 (GRCm39) |
V175A |
possibly damaging |
Het |
Nav2 |
T |
G |
7: 49,246,921 (GRCm39) |
S2149A |
probably benign |
Het |
Nr4a2 |
A |
G |
2: 57,002,430 (GRCm39) |
Y8H |
probably damaging |
Het |
Or10q12 |
T |
C |
19: 13,746,380 (GRCm39) |
F225L |
probably benign |
Het |
Or1j12 |
T |
A |
2: 36,343,290 (GRCm39) |
I231N |
probably benign |
Het |
Or1j18 |
A |
T |
2: 36,624,737 (GRCm39) |
M135L |
probably benign |
Het |
Or52e4 |
T |
C |
7: 104,705,894 (GRCm39) |
L147P |
possibly damaging |
Het |
Oxr1 |
T |
A |
15: 41,615,138 (GRCm39) |
M1K |
probably null |
Het |
Pbx3 |
T |
C |
2: 34,114,478 (GRCm39) |
Y152C |
probably damaging |
Het |
Pcdhb13 |
T |
A |
18: 37,575,645 (GRCm39) |
C8S |
probably benign |
Het |
Polr1c |
G |
A |
17: 46,557,053 (GRCm39) |
R77W |
probably damaging |
Het |
Psg25 |
A |
T |
7: 18,255,093 (GRCm39) |
N474K |
possibly damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,766,413 (GRCm39) |
M838L |
possibly damaging |
Het |
Ranbp2 |
A |
G |
10: 58,303,224 (GRCm39) |
T799A |
probably benign |
Het |
Sbf2 |
C |
T |
7: 110,049,170 (GRCm39) |
V265I |
possibly damaging |
Het |
Scarf2 |
G |
A |
16: 17,621,692 (GRCm39) |
G381R |
probably damaging |
Het |
Shprh |
A |
G |
10: 11,027,735 (GRCm39) |
Q114R |
probably benign |
Het |
Sipa1l2 |
A |
C |
8: 126,218,334 (GRCm39) |
D334E |
probably damaging |
Het |
Slc26a4 |
T |
A |
12: 31,594,449 (GRCm39) |
I300F |
probably damaging |
Het |
Sox7 |
C |
T |
14: 64,185,681 (GRCm39) |
T239I |
probably benign |
Het |
St6galnac1 |
G |
T |
11: 116,659,927 (GRCm39) |
H129N |
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,485,654 (GRCm39) |
L231P |
probably damaging |
Het |
Syngap1 |
A |
C |
17: 27,160,478 (GRCm39) |
Y18S |
probably benign |
Het |
Tenm3 |
T |
C |
8: 48,729,335 (GRCm39) |
Y1557C |
probably benign |
Het |
Trim44 |
G |
T |
2: 102,230,489 (GRCm39) |
P181T |
possibly damaging |
Het |
Trp53i13 |
A |
T |
11: 77,399,666 (GRCm39) |
V221D |
possibly damaging |
Het |
Trpm7 |
A |
G |
2: 126,641,236 (GRCm39) |
S1554P |
probably damaging |
Het |
Vcl |
A |
G |
14: 21,045,158 (GRCm39) |
N288D |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,695,196 (GRCm39) |
Y405* |
probably null |
Het |
Vps35 |
T |
C |
8: 86,010,818 (GRCm39) |
D175G |
probably benign |
Het |
Wdr90 |
A |
T |
17: 26,071,532 (GRCm39) |
L949Q |
probably damaging |
Het |
Wwp1 |
G |
A |
4: 19,639,991 (GRCm39) |
T517I |
probably damaging |
Het |
Zfp462 |
T |
G |
4: 55,008,509 (GRCm39) |
F158L |
probably benign |
Het |
Zfp703 |
T |
A |
8: 27,469,906 (GRCm39) |
H523Q |
probably damaging |
Het |
|
Other mutations in Sry |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
FR4304:Sry
|
UTSW |
Y |
2,662,837 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Sry
|
UTSW |
Y |
2,662,824 (GRCm39) |
small insertion |
probably benign |
|
FR4342:Sry
|
UTSW |
Y |
2,663,146 (GRCm39) |
small deletion |
probably benign |
|
FR4342:Sry
|
UTSW |
Y |
2,662,835 (GRCm39) |
small insertion |
probably benign |
|
FR4342:Sry
|
UTSW |
Y |
2,662,836 (GRCm39) |
small insertion |
probably benign |
|
FR4342:Sry
|
UTSW |
Y |
2,662,839 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Sry
|
UTSW |
Y |
2,662,832 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Sry
|
UTSW |
Y |
2,662,818 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Sry
|
UTSW |
Y |
2,662,818 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Sry
|
UTSW |
Y |
2,663,195 (GRCm39) |
small deletion |
probably benign |
|
FR4737:Sry
|
UTSW |
Y |
2,662,837 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Sry
|
UTSW |
Y |
2,662,838 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Sry
|
UTSW |
Y |
2,662,841 (GRCm39) |
small insertion |
probably benign |
|
R0288:Sry
|
UTSW |
Y |
2,662,818 (GRCm39) |
missense |
unknown |
|
R0506:Sry
|
UTSW |
Y |
2,662,864 (GRCm39) |
missense |
unknown |
|
R0690:Sry
|
UTSW |
Y |
2,662,944 (GRCm39) |
small deletion |
probably benign |
|
R0784:Sry
|
UTSW |
Y |
2,662,731 (GRCm39) |
missense |
unknown |
|
R1373:Sry
|
UTSW |
Y |
2,662,864 (GRCm39) |
missense |
unknown |
|
R1555:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
R1638:Sry
|
UTSW |
Y |
2,663,149 (GRCm39) |
missense |
unknown |
|
R2110:Sry
|
UTSW |
Y |
2,662,901 (GRCm39) |
missense |
unknown |
|
R2212:Sry
|
UTSW |
Y |
2,663,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R3150:Sry
|
UTSW |
Y |
2,662,944 (GRCm39) |
small deletion |
probably benign |
|
R3552:Sry
|
UTSW |
Y |
2,663,141 (GRCm39) |
missense |
unknown |
|
R4877:Sry
|
UTSW |
Y |
2,662,864 (GRCm39) |
missense |
unknown |
|
R4888:Sry
|
UTSW |
Y |
2,663,105 (GRCm39) |
missense |
unknown |
|
R5028:Sry
|
UTSW |
Y |
2,663,312 (GRCm39) |
missense |
probably damaging |
0.97 |
R5266:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
R5305:Sry
|
UTSW |
Y |
2,662,982 (GRCm39) |
missense |
unknown |
|
R5335:Sry
|
UTSW |
Y |
2,663,647 (GRCm39) |
missense |
probably benign |
0.08 |
R5587:Sry
|
UTSW |
Y |
2,662,625 (GRCm39) |
missense |
unknown |
|
R5915:Sry
|
UTSW |
Y |
2,662,612 (GRCm39) |
missense |
unknown |
|
R6183:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
R6184:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
R6187:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
R6976:Sry
|
UTSW |
Y |
2,662,938 (GRCm39) |
missense |
unknown |
|
R7358:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R7632:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R7678:Sry
|
UTSW |
Y |
2,663,248 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7737:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R7829:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R8005:Sry
|
UTSW |
Y |
2,663,303 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8028:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R8082:Sry
|
UTSW |
Y |
2,662,589 (GRCm39) |
missense |
unknown |
|
R8212:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R8223:Sry
|
UTSW |
Y |
2,663,204 (GRCm39) |
missense |
unknown |
|
R8252:Sry
|
UTSW |
Y |
2,663,298 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8390:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R9027:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R9429:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
RF002:Sry
|
UTSW |
Y |
2,662,564 (GRCm39) |
small deletion |
probably benign |
|
RF006:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
RF008:Sry
|
UTSW |
Y |
2,662,826 (GRCm39) |
small insertion |
probably benign |
|
RF040:Sry
|
UTSW |
Y |
2,662,590 (GRCm39) |
small insertion |
probably benign |
|
RF063:Sry
|
UTSW |
Y |
2,662,595 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTCATGAGACTGCCAACCAC -3'
(R):5'- CCTGTTGATATCCCCACTGG -3'
Sequencing Primer
(F):5'- ACAGGGCTGTGCTGAGG -3'
(R):5'- GCAGCAGCATCAGTTCCATG -3'
|
Posted On |
2019-11-26 |