Incidental Mutation 'R7829:Sry'
| ID |
602357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sry
|
| Ensembl Gene |
ENSMUSG00000069036 |
| Gene Name |
sex determining region of Chr Y |
| Synonyms |
Tdy, Tdf |
| MMRRC Submission |
045883-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R7829 (G1)
|
| Quality Score |
214.458 |
|
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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (61/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
G |
11: 58,770,823 (GRCm39) |
L102V |
not run |
Het |
| Abca12 |
A |
T |
1: 71,331,580 (GRCm39) |
S1323R |
probably benign |
Het |
| Abcb1a |
T |
A |
5: 8,748,623 (GRCm39) |
I318N |
probably benign |
Het |
| Adam10 |
A |
T |
9: 70,674,209 (GRCm39) |
K524* |
probably null |
Het |
| Adamts3 |
C |
T |
5: 90,009,349 (GRCm39) |
G105R |
probably damaging |
Het |
| Adcy7 |
T |
C |
8: 89,042,387 (GRCm39) |
I418T |
probably damaging |
Het |
| Alg9 |
T |
A |
9: 50,699,471 (GRCm39) |
F165L |
probably damaging |
Het |
| Anapc2 |
G |
T |
2: 25,167,753 (GRCm39) |
R440L |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,526,052 (GRCm39) |
H1876Q |
probably benign |
Het |
| Armc2 |
G |
A |
10: 41,802,856 (GRCm39) |
R606C |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,281,738 (GRCm39) |
S14P |
probably benign |
Het |
| Cfap74 |
T |
C |
4: 155,513,694 (GRCm39) |
V502A |
|
Het |
| Copb2 |
T |
C |
9: 98,470,147 (GRCm39) |
I891T |
probably damaging |
Het |
| Creb3 |
T |
C |
4: 43,566,322 (GRCm39) |
L276P |
probably damaging |
Het |
| Crnkl1 |
T |
A |
2: 145,773,269 (GRCm39) |
M126L |
probably benign |
Het |
| Csrp2 |
C |
T |
10: 110,771,045 (GRCm39) |
A50V |
probably damaging |
Het |
| Ctsd |
A |
G |
7: 141,930,879 (GRCm39) |
C284R |
probably damaging |
Het |
| Dll3 |
G |
A |
7: 27,994,075 (GRCm39) |
A454V |
probably damaging |
Het |
| Dmbx1 |
C |
T |
4: 115,781,104 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
C |
A |
6: 73,104,902 (GRCm39) |
E1896* |
probably null |
Het |
| Dtwd1 |
A |
G |
2: 126,006,679 (GRCm39) |
T234A |
probably damaging |
Het |
| Fhod3 |
G |
A |
18: 25,248,947 (GRCm39) |
|
probably null |
Het |
| Gm10549 |
C |
A |
18: 33,597,463 (GRCm39) |
|
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,742,297 (GRCm39) |
I495T |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,288,532 (GRCm39) |
N51S |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,035,366 (GRCm39) |
|
probably null |
Het |
| Hsd17b14 |
A |
C |
7: 45,216,209 (GRCm39) |
S260R |
probably benign |
Het |
| Insig2 |
A |
T |
1: 121,235,058 (GRCm39) |
|
probably null |
Het |
| Itgae |
T |
A |
11: 73,029,618 (GRCm39) |
V1046D |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,305,447 (GRCm39) |
|
probably null |
Het |
| Kmo |
A |
G |
1: 175,478,225 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,496,483 (GRCm39) |
N29S |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,793,460 (GRCm39) |
C2484* |
probably null |
Het |
| Lrrc23 |
T |
A |
6: 124,747,711 (GRCm39) |
M293L |
probably benign |
Het |
| Mphosph6 |
T |
C |
8: 118,525,807 (GRCm39) |
D47G |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naglu |
G |
A |
11: 100,967,436 (GRCm39) |
R462H |
probably damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nlrc5 |
T |
C |
8: 95,248,397 (GRCm39) |
S1711P |
probably damaging |
Het |
| Or10al7 |
T |
C |
17: 38,366,220 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Or1o2 |
T |
C |
17: 37,543,201 (GRCm39) |
E20G |
probably benign |
Het |
| Or6k2 |
A |
T |
1: 173,986,425 (GRCm39) |
I29F |
probably benign |
Het |
| Osbpl6 |
G |
A |
2: 76,423,731 (GRCm39) |
A857T |
probably damaging |
Het |
| Oscp1 |
C |
A |
4: 125,982,201 (GRCm39) |
D380E |
probably benign |
Het |
| Pdzd7 |
C |
A |
19: 45,027,678 (GRCm39) |
R265S |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,246,947 (GRCm39) |
|
probably null |
Het |
| Pigc |
G |
A |
1: 161,798,033 (GRCm39) |
R5H |
probably benign |
Het |
| Pla2g5 |
C |
A |
4: 138,531,845 (GRCm39) |
R53L |
probably benign |
Het |
| Rbm6 |
T |
C |
9: 107,729,905 (GRCm39) |
R248G |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,095,526 (GRCm39) |
L877Q |
probably damaging |
Het |
| Rpap3 |
A |
T |
15: 97,579,589 (GRCm39) |
N474K |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,842,493 (GRCm39) |
E468V |
possibly damaging |
Het |
| Samd9l |
A |
C |
6: 3,374,749 (GRCm39) |
D837E |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,178,727 (GRCm39) |
N1124S |
probably damaging |
Het |
| Slc11a2 |
G |
A |
15: 100,307,142 (GRCm39) |
A83V |
possibly damaging |
Het |
| Slfn14 |
A |
G |
11: 83,172,643 (GRCm39) |
|
probably null |
Het |
| Suclg1 |
A |
G |
6: 73,252,226 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
C |
10: 5,292,293 (GRCm39) |
V1325G |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,784,538 (GRCm39) |
S706G |
probably benign |
Het |
| Tox2 |
T |
C |
2: 163,162,296 (GRCm39) |
Y389H |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,034,909 (GRCm39) |
T946A |
probably benign |
Het |
| Ubqln1 |
C |
T |
13: 58,325,719 (GRCm39) |
E546K |
probably damaging |
Het |
| Zfp106 |
A |
G |
2: 120,354,538 (GRCm39) |
V1411A |
possibly damaging |
Het |
| Zkscan5 |
A |
T |
5: 145,155,513 (GRCm39) |
K395* |
probably null |
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 |
|
|
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'- GTCATGAGACTGCCAACCAC -3'
(R):5'- CCTGTTGATATCCCCACTGG -3'
Sequencing Primer
(F):5'- ACAGGGCTGTGCTGAGG -3'
(R):5'- GCAGCAGCATCAGTTCCATG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation