Incidental Mutation 'R3150:Sry'
| ID |
271657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sry
|
| Ensembl Gene |
ENSMUSG00000069036 |
| Gene Name |
sex determining region of Chr Y |
| Synonyms |
Tdy, Tdf |
| MMRRC Submission |
040602-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R3150 (G1)
|
| Quality Score |
102 |
|
Status
|
Not validated
|
| Chromosome |
Y |
| Chromosomal Location |
2662471-2663658 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG to ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG
at 2662944 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
A |
T |
4: 63,313,590 (GRCm39) |
S178T |
possibly damaging |
Het |
| Cabin1 |
A |
G |
10: 75,492,745 (GRCm39) |
L1850P |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,200,709 (GRCm39) |
A416E |
possibly damaging |
Het |
| Ces1g |
C |
T |
8: 94,052,444 (GRCm39) |
V282I |
probably benign |
Het |
| Col4a3 |
T |
G |
1: 82,634,858 (GRCm39) |
|
probably null |
Het |
| Crat |
C |
T |
2: 30,303,871 (GRCm39) |
|
probably null |
Het |
| Csf2ra |
C |
A |
19: 61,215,758 (GRCm39) |
A16S |
possibly damaging |
Het |
| Cspg4b |
A |
T |
13: 113,488,294 (GRCm39) |
Q105H |
probably damaging |
Het |
| Cyp4f18 |
T |
C |
8: 72,747,044 (GRCm39) |
D317G |
possibly damaging |
Het |
| Ddb1 |
T |
A |
19: 10,590,346 (GRCm39) |
M291K |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,853,620 (GRCm39) |
T1528N |
probably benign |
Het |
| Gfod2 |
C |
T |
8: 106,443,853 (GRCm39) |
G230D |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,868,410 (GRCm39) |
S257P |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Hnrnph1 |
T |
A |
11: 50,276,619 (GRCm39) |
V439E |
probably benign |
Het |
| Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,202,336 (GRCm39) |
T189M |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,029,653 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nmral1 |
G |
A |
16: 4,534,333 (GRCm39) |
T36I |
probably damaging |
Het |
| Or4c1 |
C |
T |
2: 89,133,562 (GRCm39) |
V125M |
possibly damaging |
Het |
| Or5b119 |
A |
G |
19: 13,456,824 (GRCm39) |
V246A |
probably damaging |
Het |
| Or7e169 |
A |
G |
9: 19,757,510 (GRCm39) |
I135T |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,798,765 (GRCm39) |
R2691L |
probably benign |
Het |
| Ppp2r2a |
G |
A |
14: 67,261,214 (GRCm39) |
R169W |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,334,488 (GRCm39) |
|
probably null |
Het |
| Robo1 |
C |
T |
16: 72,767,157 (GRCm39) |
P443L |
possibly damaging |
Het |
| Rtn4 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
11: 29,643,308 (GRCm39) |
|
probably benign |
Het |
| Shprh |
A |
G |
10: 11,045,774 (GRCm39) |
H865R |
probably damaging |
Het |
| Spats1 |
A |
T |
17: 45,775,480 (GRCm39) |
S15T |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,220,327 (GRCm39) |
T216A |
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,333,022 (GRCm39) |
A902V |
probably damaging |
Het |
| Usp22 |
T |
C |
11: 61,051,407 (GRCm39) |
Q312R |
probably damaging |
Het |
| Vmn2r32 |
T |
C |
7: 7,475,554 (GRCm39) |
Y443C |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,813,360 (GRCm39) |
D3274E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,971,095 (GRCm39) |
N167K |
possibly damaging |
Het |
| Xpo5 |
A |
G |
17: 46,553,173 (GRCm39) |
|
probably null |
Het |
| Zswim7 |
A |
T |
11: 62,164,611 (GRCm39) |
I43N |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
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 |
|
|
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 |
|
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'- AAGTAGGTAAGCTGCTGGTCG -3'
(R):5'- AGCCTGTTGATATCCCCACTG -3'
Sequencing Primer
(F):5'- AAGCTGCTGGTCGTGGAAC -3'
(R):5'- GCAGCAACAGCAGTTCTATG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation