Incidental Mutation 'R7632:Sry'
ID |
589732 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sry
|
Ensembl Gene |
ENSMUSG00000069036 |
Gene Name |
sex determining region of Chr Y |
Synonyms |
Tdy, Tdf |
MMRRC Submission |
045720-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R7632 (G1)
|
Quality Score |
159.457 |
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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
95% (63/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap2a2 |
A |
G |
7: 141,211,236 (GRCm39) |
D924G |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Atrnl1 |
A |
G |
19: 57,618,738 (GRCm39) |
D152G |
probably damaging |
Het |
B3gnt8 |
A |
G |
7: 25,327,860 (GRCm39) |
I97V |
possibly damaging |
Het |
Bach1 |
A |
G |
16: 87,517,031 (GRCm39) |
D524G |
probably benign |
Het |
Caprin2 |
T |
C |
6: 148,784,954 (GRCm39) |
S107G |
probably damaging |
Het |
Ccnb1 |
A |
G |
13: 100,918,209 (GRCm39) |
I207T |
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,400,515 (GRCm39) |
D151G |
probably damaging |
Het |
Cdh9 |
A |
G |
15: 16,851,115 (GRCm39) |
|
probably null |
Het |
Cep83 |
A |
T |
10: 94,586,502 (GRCm39) |
R433W |
probably damaging |
Het |
Cspg4b |
C |
A |
13: 113,457,420 (GRCm39) |
S1155R |
|
Het |
D3Ertd751e |
A |
G |
3: 41,708,163 (GRCm39) |
E100G |
probably benign |
Het |
Dchs2 |
C |
T |
3: 83,255,357 (GRCm39) |
A2351V |
probably benign |
Het |
Dhx40 |
T |
C |
11: 86,690,263 (GRCm39) |
T253A |
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,036,680 (GRCm39) |
D228G |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,627,327 (GRCm39) |
M4002T |
probably benign |
Het |
Flcn |
C |
T |
11: 59,686,625 (GRCm39) |
W376* |
probably null |
Het |
Flnc |
A |
T |
6: 29,446,984 (GRCm39) |
Y1037F |
probably damaging |
Het |
Fut11 |
T |
A |
14: 20,745,096 (GRCm39) |
V9E |
probably benign |
Het |
Fv1 |
T |
A |
4: 147,954,392 (GRCm39) |
N319K |
possibly damaging |
Het |
Ghrhr |
G |
T |
6: 55,361,727 (GRCm39) |
G298V |
probably benign |
Het |
Gm5800 |
T |
A |
14: 51,953,905 (GRCm39) |
|
probably null |
Het |
Grin2b |
A |
G |
6: 135,709,553 (GRCm39) |
M1331T |
probably benign |
Het |
Hyou1 |
A |
G |
9: 44,292,433 (GRCm39) |
|
probably null |
Het |
Igkv1-117 |
C |
A |
6: 68,098,792 (GRCm39) |
Q114K |
probably damaging |
Het |
Igkv4-68 |
A |
G |
6: 69,282,048 (GRCm39) |
V41A |
possibly damaging |
Het |
Inpp4b |
A |
G |
8: 82,772,968 (GRCm39) |
N754S |
probably damaging |
Het |
Isl2 |
G |
A |
9: 55,448,440 (GRCm39) |
|
probably null |
Het |
Kat2a |
G |
A |
11: 100,599,422 (GRCm39) |
Q523* |
probably null |
Het |
Lypd3 |
T |
C |
7: 24,337,865 (GRCm39) |
F77S |
possibly damaging |
Het |
Map4k2 |
T |
C |
19: 6,394,084 (GRCm39) |
L297P |
probably benign |
Het |
Naca |
T |
C |
10: 127,876,375 (GRCm39) |
V469A |
unknown |
Het |
Notch3 |
C |
T |
17: 32,377,480 (GRCm39) |
V199I |
probably benign |
Het |
Or4k44 |
T |
C |
2: 111,368,521 (GRCm39) |
I38V |
possibly damaging |
Het |
Or5b119 |
T |
C |
19: 13,456,795 (GRCm39) |
M256V |
possibly damaging |
Het |
Pabpc1 |
TGTACCTGTTGCATGGTA |
TGTA |
15: 36,598,212 (GRCm39) |
|
probably null |
Het |
Pcdhb8 |
A |
T |
18: 37,488,648 (GRCm39) |
I109L |
probably benign |
Het |
Pde2a |
A |
G |
7: 101,133,801 (GRCm39) |
D104G |
possibly damaging |
Het |
Phip |
A |
G |
9: 82,785,243 (GRCm39) |
V824A |
probably benign |
Het |
Plekhg4 |
T |
C |
8: 106,106,782 (GRCm39) |
Y853H |
probably damaging |
Het |
Plod1 |
T |
C |
4: 148,011,481 (GRCm39) |
K248R |
probably damaging |
Het |
Plxnd1 |
A |
T |
6: 115,953,600 (GRCm39) |
Y656N |
probably benign |
Het |
Pogz |
G |
A |
3: 94,763,517 (GRCm39) |
|
probably null |
Het |
Ppp1r3e |
T |
A |
14: 55,114,526 (GRCm39) |
S79C |
probably damaging |
Het |
Pprc1 |
T |
A |
19: 46,060,721 (GRCm39) |
D1595E |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,547,783 (GRCm39) |
V205A |
probably benign |
Het |
Rad51ap2 |
T |
C |
12: 11,507,116 (GRCm39) |
V346A |
possibly damaging |
Het |
Rgs12 |
T |
A |
5: 35,122,934 (GRCm39) |
L239H |
probably damaging |
Het |
Rrp8 |
T |
C |
7: 105,385,727 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACCGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Scaf1 |
A |
T |
7: 44,656,503 (GRCm39) |
V792D |
unknown |
Het |
Scrn2 |
G |
T |
11: 96,923,968 (GRCm39) |
R284L |
possibly damaging |
Het |
Sgsm1 |
T |
A |
5: 113,423,948 (GRCm39) |
Q461L |
possibly damaging |
Het |
Slc18b1 |
A |
G |
10: 23,702,080 (GRCm39) |
T434A |
probably benign |
Het |
Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
Snx33 |
A |
T |
9: 56,833,702 (GRCm39) |
D122E |
probably damaging |
Het |
Srebf2 |
G |
T |
15: 82,069,497 (GRCm39) |
V680L |
probably benign |
Het |
Tecpr1 |
C |
T |
5: 144,155,544 (GRCm39) |
V5M |
probably benign |
Het |
Tfg |
A |
G |
16: 56,532,997 (GRCm39) |
V54A |
possibly damaging |
Het |
Tmem237 |
C |
T |
1: 59,156,060 (GRCm39) |
C30Y |
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,916,787 (GRCm39) |
K444R |
probably benign |
Het |
Trim25 |
T |
G |
11: 88,906,602 (GRCm39) |
L446R |
probably null |
Het |
Usp37 |
T |
C |
1: 74,507,533 (GRCm39) |
T495A |
probably benign |
Het |
Vmn1r94 |
T |
G |
7: 19,901,696 (GRCm39) |
T203P |
probably damaging |
Het |
Ywhah |
T |
A |
5: 33,184,010 (GRCm39) |
M71K |
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 |
|
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 |
|
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'- TGTCATGAGACTGCCAACCAC -3'
(R):5'- AGCCTGTTGATATCCCCACTGG -3'
Sequencing Primer
(F):5'- ACAGGGCTGTGCTGAGG -3'
(R):5'- GCAGCAGCATCAGTTCCATG -3'
|
Posted On |
2019-10-24 |