Incidental Mutation 'R0784:Sry'
ID |
76801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sry
|
Ensembl Gene |
ENSMUSG00000069036 |
Gene Name |
sex determining region of Chr Y |
Synonyms |
Tdy, Tdf |
MMRRC Submission |
038964-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R0784 (G1)
|
Quality Score |
209 |
Status
|
Validated
|
Chromosome |
Y |
Chromosomal Location |
2662471-2663658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 2662731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 310
(Q310K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091178]
|
AlphaFold |
Q05738 |
Predicted Effect |
unknown
Transcript: ENSMUST00000091178
AA Change: Q310K
|
SMART Domains |
Protein: ENSMUSP00000088717 Gene: ENSMUSG00000069036 AA Change: Q310K
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: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.1%
|
Validation Efficiency |
97% (59/61) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
T |
C |
14: 54,890,985 (GRCm39) |
|
probably benign |
Het |
Adamts2 |
C |
T |
11: 50,558,830 (GRCm39) |
R182W |
probably damaging |
Het |
Ahr |
C |
T |
12: 35,558,141 (GRCm39) |
G293D |
possibly damaging |
Het |
Akna |
G |
T |
4: 63,295,125 (GRCm39) |
T1028K |
probably benign |
Het |
Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
Aoc1l3 |
T |
A |
6: 48,964,235 (GRCm39) |
M81K |
possibly damaging |
Het |
Asic2 |
T |
A |
11: 80,784,815 (GRCm39) |
M324L |
possibly damaging |
Het |
Atf6 |
A |
G |
1: 170,537,516 (GRCm39) |
F635L |
probably benign |
Het |
Atp8b2 |
A |
T |
3: 89,864,380 (GRCm39) |
V195E |
probably damaging |
Het |
Bicd1 |
T |
A |
6: 149,414,861 (GRCm39) |
C525S |
probably damaging |
Het |
Cbfa2t3 |
A |
G |
8: 123,377,226 (GRCm39) |
|
probably benign |
Het |
Cd46 |
G |
A |
1: 194,774,502 (GRCm39) |
T11M |
possibly damaging |
Het |
Cecr2 |
A |
G |
6: 120,735,110 (GRCm39) |
H754R |
possibly damaging |
Het |
Clcn3 |
G |
T |
8: 61,382,237 (GRCm39) |
D450E |
probably benign |
Het |
Cobl |
T |
G |
11: 12,216,843 (GRCm39) |
|
probably benign |
Het |
Cyba |
T |
A |
8: 123,154,422 (GRCm39) |
T34S |
probably benign |
Het |
Dennd1a |
A |
G |
2: 37,911,426 (GRCm39) |
L187P |
probably damaging |
Het |
Dennd4c |
A |
T |
4: 86,763,145 (GRCm39) |
Q1817L |
probably benign |
Het |
Drosha |
T |
C |
15: 12,867,764 (GRCm39) |
|
probably benign |
Het |
Dync1li2 |
A |
G |
8: 105,169,130 (GRCm39) |
S34P |
probably damaging |
Het |
Emilin2 |
T |
A |
17: 71,582,282 (GRCm39) |
D148V |
possibly damaging |
Het |
Galnt11 |
A |
G |
5: 25,463,907 (GRCm39) |
D393G |
probably damaging |
Het |
Gm5435 |
T |
A |
12: 82,542,954 (GRCm39) |
|
noncoding transcript |
Het |
Gpr176 |
C |
T |
2: 118,203,533 (GRCm39) |
V46M |
possibly damaging |
Het |
Gpr85 |
T |
A |
6: 13,836,748 (GRCm39) |
H52L |
probably benign |
Het |
Grn |
T |
C |
11: 102,325,328 (GRCm39) |
M246T |
possibly damaging |
Het |
Hnrnpul2 |
T |
C |
19: 8,802,416 (GRCm39) |
F428L |
possibly damaging |
Het |
Hoxa13 |
G |
C |
6: 52,236,917 (GRCm39) |
N278K |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,087,118 (GRCm39) |
D350G |
probably benign |
Het |
Kat2a |
C |
T |
11: 100,601,667 (GRCm39) |
M249I |
probably benign |
Het |
Klhl29 |
T |
C |
12: 5,131,251 (GRCm39) |
Y782C |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,515,893 (GRCm39) |
F2650Y |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,348,709 (GRCm39) |
I754T |
probably benign |
Het |
LTO1 |
A |
T |
7: 144,473,014 (GRCm39) |
Y108F |
probably benign |
Het |
Mpl |
G |
A |
4: 118,303,603 (GRCm39) |
P472S |
possibly damaging |
Het |
Mtnr1b |
A |
G |
9: 15,774,081 (GRCm39) |
I326T |
probably benign |
Het |
Myh9 |
A |
G |
15: 77,661,209 (GRCm39) |
|
probably benign |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Myo9a |
A |
G |
9: 59,803,828 (GRCm39) |
|
probably benign |
Het |
Or2z2 |
T |
A |
11: 58,346,131 (GRCm39) |
I215F |
possibly damaging |
Het |
Or4ac1-ps1 |
T |
A |
2: 88,370,511 (GRCm39) |
|
noncoding transcript |
Het |
Pcsk5 |
T |
C |
19: 17,692,133 (GRCm39) |
M184V |
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,216,306 (GRCm39) |
D1143V |
probably damaging |
Het |
Prr36 |
G |
T |
8: 4,263,771 (GRCm39) |
|
probably benign |
Het |
Rnf220 |
C |
A |
4: 117,135,195 (GRCm39) |
|
probably benign |
Het |
Senp3 |
A |
G |
11: 69,571,274 (GRCm39) |
L131P |
probably damaging |
Het |
Shc4 |
A |
C |
2: 125,499,416 (GRCm39) |
W354G |
probably benign |
Het |
Slc6a15 |
A |
G |
10: 103,252,661 (GRCm39) |
|
probably benign |
Het |
Smtnl2 |
T |
C |
11: 72,290,763 (GRCm39) |
D394G |
probably damaging |
Het |
St7l |
A |
G |
3: 104,778,240 (GRCm39) |
M126V |
probably benign |
Het |
St8sia3 |
T |
C |
18: 64,404,772 (GRCm39) |
W350R |
probably damaging |
Het |
Stk35 |
A |
T |
2: 129,652,722 (GRCm39) |
K408* |
probably null |
Het |
Thsd7b |
T |
C |
1: 129,523,096 (GRCm39) |
|
probably benign |
Het |
Tmem106b |
T |
C |
6: 13,084,252 (GRCm39) |
V252A |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,687,992 (GRCm39) |
|
probably null |
Het |
Ttf2 |
T |
C |
3: 100,870,026 (GRCm39) |
D349G |
probably benign |
Het |
Zfp386 |
T |
A |
12: 116,023,540 (GRCm39) |
C419* |
probably null |
Het |
Zfp541 |
A |
G |
7: 15,816,917 (GRCm39) |
|
probably benign |
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 |
|
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'- AAGTAGGTAAGCTGCTGGTC -3'
(R):5'- accaccaccaccaccac -3'
|
Posted On |
2013-10-16 |