Incidental Mutation 'R0288:Sry'
ID |
24764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sry
|
Ensembl Gene |
ENSMUSG00000069036 |
Gene Name |
sex determining region of Chr Y |
Synonyms |
Tdy, Tdf |
MMRRC Submission |
038507-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R0288 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
Y |
Chromosomal Location |
2662471-2663658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 2662818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 281
(F281I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091178]
|
AlphaFold |
Q05738 |
Predicted Effect |
unknown
Transcript: ENSMUST00000091178
AA Change: F281I
|
SMART Domains |
Protein: ENSMUSP00000088717 Gene: ENSMUSG00000069036 AA Change: F281I
Domain | Start | End | E-Value | Type |
HMG
|
4 |
74 |
2.76e-24 |
SMART |
low complexity region
|
144 |
366 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0869 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.7%
|
Validation Efficiency |
98% (62/63) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg3 |
A |
G |
8: 95,766,568 (GRCm39) |
E413G |
possibly damaging |
Het |
Amigo2 |
G |
T |
15: 97,143,560 (GRCm39) |
N287K |
probably damaging |
Het |
Ankle2 |
T |
A |
5: 110,384,256 (GRCm39) |
I260K |
probably damaging |
Het |
Apob |
C |
T |
12: 8,040,779 (GRCm39) |
R635* |
probably null |
Het |
Camkv |
A |
G |
9: 107,823,555 (GRCm39) |
Y153C |
probably damaging |
Het |
Capn9 |
A |
G |
8: 125,327,230 (GRCm39) |
|
probably benign |
Het |
Ces2c |
A |
G |
8: 105,576,376 (GRCm39) |
I130V |
probably benign |
Het |
Cfap44 |
T |
A |
16: 44,236,257 (GRCm39) |
|
probably benign |
Het |
Cfhr3 |
A |
G |
1: 139,525,425 (GRCm39) |
|
noncoding transcript |
Het |
Chmp1a |
G |
T |
8: 123,934,745 (GRCm39) |
D70E |
probably damaging |
Het |
Coil |
G |
A |
11: 88,872,694 (GRCm39) |
G352R |
probably damaging |
Het |
Colq |
T |
C |
14: 31,265,949 (GRCm39) |
E188G |
possibly damaging |
Het |
Cyfip2 |
A |
G |
11: 46,144,799 (GRCm39) |
F685S |
possibly damaging |
Het |
Cyp4f39 |
A |
G |
17: 32,711,410 (GRCm39) |
N519S |
probably benign |
Het |
Dennd1c |
A |
T |
17: 57,383,870 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
T |
11: 65,915,960 (GRCm39) |
|
probably null |
Het |
Dnmbp |
T |
C |
19: 43,890,898 (GRCm39) |
T290A |
possibly damaging |
Het |
Dsc2 |
T |
C |
18: 20,166,177 (GRCm39) |
D818G |
probably damaging |
Het |
Gnptab |
G |
A |
10: 88,268,967 (GRCm39) |
V557I |
probably benign |
Het |
Hdac4 |
A |
T |
1: 91,898,728 (GRCm39) |
H675Q |
probably damaging |
Het |
Kcnk3 |
T |
C |
5: 30,745,764 (GRCm39) |
M35T |
probably benign |
Het |
Kif1b |
A |
T |
4: 149,283,795 (GRCm39) |
I1290N |
probably damaging |
Het |
Klhl14 |
G |
A |
18: 21,698,620 (GRCm39) |
R398W |
probably damaging |
Het |
Marveld1 |
T |
C |
19: 42,136,265 (GRCm39) |
F60L |
probably damaging |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Ndst3 |
A |
T |
3: 123,465,843 (GRCm39) |
V43D |
probably benign |
Het |
Nhsl1 |
A |
G |
10: 18,399,794 (GRCm39) |
D306G |
probably damaging |
Het |
Nlrp2 |
A |
G |
7: 5,331,544 (GRCm39) |
V284A |
probably benign |
Het |
Pcdhb15 |
T |
C |
18: 37,608,451 (GRCm39) |
V561A |
probably damaging |
Het |
Pdcl2 |
T |
C |
5: 76,460,344 (GRCm39) |
I177V |
possibly damaging |
Het |
Pkd1l3 |
G |
A |
8: 110,373,131 (GRCm39) |
|
probably null |
Het |
Pla2g6 |
A |
C |
15: 79,171,106 (GRCm39) |
|
probably benign |
Het |
Plekhj1 |
A |
T |
10: 80,632,444 (GRCm39) |
I122N |
probably damaging |
Het |
Pmel |
T |
C |
10: 128,550,175 (GRCm39) |
I70T |
probably benign |
Het |
Psip1 |
T |
C |
4: 83,383,196 (GRCm39) |
D273G |
probably damaging |
Het |
Rictor |
A |
G |
15: 6,816,021 (GRCm39) |
I1098V |
probably benign |
Het |
Rif1 |
T |
C |
2: 52,000,025 (GRCm39) |
S1160P |
probably damaging |
Het |
Rsbn1l |
T |
C |
5: 21,125,038 (GRCm39) |
I255V |
probably damaging |
Het |
Slc15a5 |
A |
G |
6: 137,994,914 (GRCm39) |
|
probably benign |
Het |
Slc29a1 |
G |
A |
17: 45,900,730 (GRCm39) |
R111W |
probably damaging |
Het |
Slc36a1 |
G |
A |
11: 55,109,913 (GRCm39) |
A74T |
probably damaging |
Het |
Slc5a7 |
A |
T |
17: 54,600,046 (GRCm39) |
Y122* |
probably null |
Het |
Slc6a3 |
G |
T |
13: 73,709,047 (GRCm39) |
G324W |
probably damaging |
Het |
Sltm |
T |
C |
9: 70,486,633 (GRCm39) |
S433P |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,070,745 (GRCm39) |
S2190P |
probably damaging |
Het |
Stk32a |
T |
A |
18: 43,438,060 (GRCm39) |
|
probably null |
Het |
Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
G |
A |
17: 24,920,781 (GRCm39) |
H612Y |
probably damaging |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Top2a |
A |
G |
11: 98,907,249 (GRCm39) |
|
probably benign |
Het |
Usp9y |
A |
T |
Y: 1,333,606 (GRCm39) |
|
probably benign |
Het |
Vldlr |
G |
A |
19: 27,218,051 (GRCm39) |
|
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vmn2r28 |
A |
G |
7: 5,491,020 (GRCm39) |
L409P |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,834,648 (GRCm39) |
V1659A |
probably damaging |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
Zfp280d |
A |
T |
9: 72,238,621 (GRCm39) |
K646* |
probably null |
Het |
Zfp36 |
A |
G |
7: 28,077,666 (GRCm39) |
S81P |
probably benign |
Het |
Zfp618 |
A |
T |
4: 63,051,171 (GRCm39) |
T651S |
possibly 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 |
|
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 |
|
R7812: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'- TGTCATGAGACTGCCAACCACAGG -3'
(R):5'- AGCAGCAACAGCAGTTCTATGACC -3'
Sequencing Primer
(F):5'- GTGGAActgctgctgctg -3'
(R):5'- accaccaccaccaccac -3'
|
Posted On |
2013-04-16 |