Incidental Mutation 'R8212:Sry'
ID |
636232 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sry
|
Ensembl Gene |
ENSMUSG00000069036 |
Gene Name |
sex determining region of Chr Y |
Synonyms |
Tdy, Tdf |
MMRRC Submission |
067635-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R8212 (G1)
|
Quality Score |
140.458 |
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: 99.9%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
97% (37/38) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
C |
13: 81,670,240 (GRCm39) |
I2369V |
probably benign |
Het |
Ager |
G |
A |
17: 34,819,586 (GRCm39) |
R368H |
possibly damaging |
Het |
Arl2 |
G |
T |
19: 6,187,596 (GRCm39) |
T84K |
probably damaging |
Het |
Cfap126 |
A |
T |
1: 170,953,630 (GRCm39) |
T67S |
probably damaging |
Het |
Cfap45 |
A |
G |
1: 172,369,067 (GRCm39) |
|
probably null |
Het |
Cfdp1 |
A |
T |
8: 112,571,815 (GRCm39) |
N31K |
probably damaging |
Het |
Clpx |
A |
G |
9: 65,228,173 (GRCm39) |
T408A |
possibly damaging |
Het |
Cobll1 |
T |
C |
2: 64,932,424 (GRCm39) |
N526S |
probably benign |
Het |
Cpne1 |
T |
C |
2: 155,920,134 (GRCm39) |
D215G |
probably damaging |
Het |
Cstf1 |
T |
C |
2: 172,219,872 (GRCm39) |
S328P |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,637,205 (GRCm39) |
E193G |
possibly damaging |
Het |
Fam83c |
A |
G |
2: 155,671,207 (GRCm39) |
F743L |
probably benign |
Het |
Fn1 |
A |
G |
1: 71,682,064 (GRCm39) |
I364T |
probably benign |
Het |
Foxo3 |
T |
C |
10: 42,072,991 (GRCm39) |
M509V |
possibly damaging |
Het |
Galnt6 |
T |
C |
15: 100,591,308 (GRCm39) |
T599A |
probably benign |
Het |
Gm5114 |
A |
G |
7: 39,060,676 (GRCm39) |
S58P |
probably benign |
Het |
Gria4 |
G |
A |
9: 4,480,242 (GRCm39) |
A402V |
probably benign |
Het |
Heatr5a |
C |
A |
12: 51,946,012 (GRCm39) |
A1200S |
probably benign |
Het |
Nlrp5 |
A |
T |
7: 23,116,762 (GRCm39) |
D162V |
probably benign |
Het |
Or14j6 |
T |
C |
17: 38,215,148 (GRCm39) |
V237A |
probably benign |
Het |
Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
Pcf11 |
G |
A |
7: 92,308,706 (GRCm39) |
R589C |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,362,696 (GRCm39) |
D574G |
probably benign |
Het |
Plb1 |
T |
C |
5: 32,422,250 (GRCm39) |
S68P |
probably damaging |
Het |
Plekhs1 |
A |
G |
19: 56,460,188 (GRCm39) |
M95V |
probably damaging |
Het |
Polr2h |
T |
C |
16: 20,536,746 (GRCm39) |
|
probably null |
Het |
Ppef2 |
T |
A |
5: 92,376,524 (GRCm39) |
I668L |
possibly damaging |
Het |
Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
Rwdd1 |
A |
G |
10: 33,878,523 (GRCm39) |
V104A |
probably damaging |
Het |
Slc2a9 |
G |
T |
5: 38,637,402 (GRCm39) |
H25N |
probably benign |
Het |
Slc36a3 |
T |
A |
11: 55,015,907 (GRCm39) |
I416F |
probably damaging |
Het |
Sppl2b |
T |
A |
10: 80,701,193 (GRCm39) |
V356D |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,555,918 (GRCm39) |
T99A |
probably damaging |
Het |
Tm9sf3 |
A |
T |
19: 41,229,074 (GRCm39) |
M243K |
probably damaging |
Het |
Trnt1 |
T |
C |
6: 106,746,832 (GRCm39) |
Y6H |
probably benign |
Het |
Ttn |
T |
A |
2: 76,612,626 (GRCm39) |
H17151L |
probably benign |
Het |
Ube2o |
A |
G |
11: 116,439,624 (GRCm39) |
V182A |
possibly damaging |
Het |
Zfhx2 |
G |
T |
14: 55,310,373 (GRCm39) |
D724E |
possibly damaging |
Het |
Zfp616 |
T |
A |
11: 73,976,569 (GRCm39) |
V946D |
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 |
|
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'- TGTCATGAGACTGCCAACC -3'
(R):5'- GCCTGTTGATATCCCCACTG -3'
Sequencing Primer
(F):5'- TGAGACTGCCAACCACAGGG -3'
(R):5'- GCAGCAGCATCAGTTCCATG -3'
|
Posted On |
2020-07-13 |