Incidental Mutation 'R8252:Sry'
ID |
640215 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sry
|
Ensembl Gene |
ENSMUSG00000069036 |
Gene Name |
sex determining region of Chr Y |
Synonyms |
Tdy, Tdf |
MMRRC Submission |
067678-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R8252 (G1)
|
Quality Score |
221.999 |
Status
|
Validated
|
Chromosome |
Y |
Chromosomal Location |
2662471-2663658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 2663298 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 121
(A121S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091178]
|
AlphaFold |
Q05738 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091178
AA Change: A121S
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000088717 Gene: ENSMUSG00000069036 AA Change: A121S
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: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (60/60) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
T |
C |
2: 22,861,284 (GRCm39) |
|
probably benign |
Het |
Ano4 |
A |
G |
10: 88,816,881 (GRCm39) |
I644T |
probably damaging |
Het |
Arhgap18 |
T |
A |
10: 26,730,932 (GRCm39) |
D203E |
probably benign |
Het |
Ascc3 |
T |
A |
10: 50,518,706 (GRCm39) |
M337K |
probably benign |
Het |
Atg13 |
G |
C |
2: 91,510,699 (GRCm39) |
P343A |
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,634,335 (GRCm39) |
V1058I |
|
Het |
Cd180 |
A |
G |
13: 102,842,504 (GRCm39) |
T517A |
probably benign |
Het |
Cd1d2 |
A |
C |
3: 86,894,375 (GRCm39) |
I48L |
probably benign |
Het |
Cdh19 |
C |
T |
1: 110,817,615 (GRCm39) |
C709Y |
probably benign |
Het |
Chst10 |
T |
C |
1: 38,923,433 (GRCm39) |
D51G |
probably benign |
Het |
Clec2g |
G |
A |
6: 128,958,335 (GRCm39) |
E184K |
probably benign |
Het |
Col19a1 |
T |
A |
1: 24,319,048 (GRCm39) |
H1014L |
probably benign |
Het |
Fam135b |
T |
A |
15: 71,404,872 (GRCm39) |
H58L |
probably benign |
Het |
Fam171b |
A |
G |
2: 83,708,586 (GRCm39) |
I363V |
probably benign |
Het |
Hecw1 |
C |
A |
13: 14,515,425 (GRCm39) |
G236W |
probably damaging |
Het |
Htra3 |
A |
G |
5: 35,810,305 (GRCm39) |
M459T |
probably benign |
Het |
Iglc2 |
A |
T |
16: 19,017,520 (GRCm39) |
C27* |
probably null |
Het |
Il36b |
A |
T |
2: 24,048,825 (GRCm39) |
T77S |
possibly damaging |
Het |
Kif1b |
A |
T |
4: 149,358,262 (GRCm39) |
N135K |
probably damaging |
Het |
Krt5 |
A |
T |
15: 101,620,794 (GRCm39) |
I151N |
probably damaging |
Het |
Lama4 |
A |
T |
10: 38,936,142 (GRCm39) |
M606L |
probably benign |
Het |
Lgr6 |
T |
A |
1: 134,931,215 (GRCm39) |
S280C |
probably null |
Het |
Msh3 |
T |
A |
13: 92,357,569 (GRCm39) |
T967S |
probably damaging |
Het |
Ndufb4 |
T |
C |
16: 37,474,637 (GRCm39) |
T29A |
probably benign |
Het |
Nfe2l1 |
T |
C |
11: 96,710,058 (GRCm39) |
M724V |
probably benign |
Het |
Nudt12 |
T |
C |
17: 59,318,089 (GRCm39) |
Y52C |
probably damaging |
Het |
Nutm1 |
G |
T |
2: 112,082,174 (GRCm39) |
Q301K |
probably damaging |
Het |
Or2t46 |
T |
A |
11: 58,471,958 (GRCm39) |
I96N |
probably damaging |
Het |
Or4c102 |
A |
G |
2: 88,423,011 (GRCm39) |
R288G |
probably damaging |
Het |
Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
Or6e1 |
T |
A |
14: 54,519,704 (GRCm39) |
Y216F |
possibly damaging |
Het |
Pcdh9 |
T |
C |
14: 94,126,086 (GRCm39) |
Y28C |
probably damaging |
Het |
Pcdha11 |
G |
C |
18: 37,140,590 (GRCm39) |
V740L |
possibly damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,767,472 (GRCm39) |
T1273A |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,727,058 (GRCm39) |
D574G |
probably damaging |
Het |
Prrc2b |
A |
T |
2: 32,109,392 (GRCm39) |
Q1719L |
possibly damaging |
Het |
Psap |
A |
G |
10: 60,113,511 (GRCm39) |
|
probably benign |
Het |
Pwwp3a |
A |
G |
10: 80,077,694 (GRCm39) |
I656V |
probably benign |
Het |
Rab11fip2 |
C |
T |
19: 59,925,422 (GRCm39) |
S265N |
probably benign |
Het |
Rnf10 |
A |
T |
5: 115,398,373 (GRCm39) |
D53E |
probably benign |
Het |
Scgb2b11 |
T |
C |
7: 31,908,764 (GRCm39) |
E112G |
probably benign |
Het |
Scml4 |
T |
C |
10: 42,800,100 (GRCm39) |
Y85H |
noncoding transcript |
Het |
Setd5 |
T |
A |
6: 113,127,916 (GRCm39) |
Y1290N |
probably benign |
Het |
Sgk1 |
T |
A |
10: 21,873,298 (GRCm39) |
C375S |
probably damaging |
Het |
Sik2 |
A |
G |
9: 50,828,415 (GRCm39) |
V209A |
possibly damaging |
Het |
Sipa1l2 |
A |
T |
8: 126,195,410 (GRCm39) |
V776D |
probably damaging |
Het |
Slamf1 |
T |
A |
1: 171,594,796 (GRCm39) |
M1K |
probably null |
Het |
Slc26a7 |
T |
C |
4: 14,621,415 (GRCm39) |
|
probably benign |
Het |
Spg11 |
G |
T |
2: 121,918,820 (GRCm39) |
|
probably benign |
Het |
Sspo |
C |
T |
6: 48,462,386 (GRCm39) |
T3719I |
probably damaging |
Het |
Tcap |
T |
C |
11: 98,275,171 (GRCm39) |
S102P |
probably benign |
Het |
Thap7 |
T |
C |
16: 17,346,486 (GRCm39) |
R166G |
probably benign |
Het |
Tmem229a |
T |
C |
6: 24,955,580 (GRCm39) |
Y58C |
probably damaging |
Het |
Trim8 |
A |
G |
19: 46,504,059 (GRCm39) |
Y537C |
probably damaging |
Het |
Ubr4 |
T |
A |
4: 139,200,528 (GRCm39) |
M4692K |
unknown |
Het |
Uvssa |
A |
G |
5: 33,549,523 (GRCm39) |
S395G |
probably benign |
Het |
Vgll4 |
G |
T |
6: 114,867,695 (GRCm39) |
T52K |
probably damaging |
Het |
Vmn2r7 |
A |
G |
3: 64,600,527 (GRCm39) |
L548P |
probably benign |
Het |
Vmn2r92 |
T |
A |
17: 18,387,134 (GRCm39) |
S158T |
probably damaging |
Het |
Wdr70 |
A |
T |
15: 8,072,337 (GRCm39) |
|
probably benign |
Het |
Zbtb48 |
A |
T |
4: 152,105,344 (GRCm39) |
C463S |
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 |
|
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 |
|
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'- GTAAGCTGCTGGTCGTGGA -3'
(R):5'- TGAAGATCCTACACAGAGAGAAATAC -3'
Sequencing Primer
(F):5'- CATGGAACTGATGCTGCTGC -3'
(R):5'- CCCAAACTATAAATATCAGCCTCATC -3'
|
Posted On |
2020-07-28 |