Incidental Mutation 'R5305:Sry'
| ID |
404535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sry
|
| Ensembl Gene |
ENSMUSG00000069036 |
| Gene Name |
sex determining region of Chr Y |
| Synonyms |
Tdy, Tdf |
| MMRRC Submission |
042888-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R5305 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
Y |
| Chromosomal Location |
2662471-2663658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 2662982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 226
(D226V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091178]
|
| AlphaFold |
Q05738 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000091178
AA Change: D226V
|
| SMART Domains |
Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036
AA Change: D226V
| Domain | Start | End | E-Value | Type |
|---|
|
HMG
|
4 |
74 |
2.76e-24 |
SMART |
|
low complexity region
|
144 |
366 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
99% (67/68) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
G |
A |
15: 81,943,420 (GRCm39) |
V11M |
possibly damaging |
Het |
| Acot8 |
A |
G |
2: 164,637,685 (GRCm39) |
V179A |
probably benign |
Het |
| Actb |
A |
G |
5: 142,889,985 (GRCm39) |
I194T |
probably benign |
Het |
| Ap1g2 |
A |
G |
14: 55,336,533 (GRCm39) |
V787A |
probably benign |
Het |
| Areg |
G |
T |
5: 91,292,308 (GRCm39) |
A203S |
probably damaging |
Het |
| Asb13 |
A |
T |
13: 3,693,479 (GRCm39) |
D79V |
probably damaging |
Het |
| Atad2b |
C |
T |
12: 5,015,855 (GRCm39) |
T527I |
probably damaging |
Het |
| Auts2 |
T |
G |
5: 131,472,632 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
T |
A |
7: 16,885,501 (GRCm39) |
S35T |
probably damaging |
Het |
| Crebzf |
T |
C |
7: 90,093,342 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
G |
T |
6: 18,381,097 (GRCm39) |
N1366K |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,393,750 (GRCm39) |
C1417F |
probably damaging |
Het |
| Dot1l |
C |
T |
10: 80,626,627 (GRCm39) |
P162S |
probably benign |
Het |
| Epc1 |
G |
A |
18: 6,490,690 (GRCm39) |
|
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,480,895 (GRCm39) |
S613G |
possibly damaging |
Het |
| Erich6 |
T |
G |
3: 58,532,537 (GRCm39) |
I357L |
probably benign |
Het |
| Foxj3 |
T |
A |
4: 119,477,155 (GRCm39) |
S288T |
possibly damaging |
Het |
| Gls2 |
T |
G |
10: 128,040,578 (GRCm39) |
Y326* |
probably null |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm7535 |
T |
C |
17: 18,132,061 (GRCm39) |
|
probably benign |
Het |
| Gxylt2 |
T |
G |
6: 100,764,179 (GRCm39) |
L288R |
probably damaging |
Het |
| Kdm4a |
T |
C |
4: 118,017,698 (GRCm39) |
Y456C |
probably damaging |
Het |
| Mgat4c |
T |
A |
10: 102,225,140 (GRCm39) |
F451L |
possibly damaging |
Het |
| Mrpl20 |
G |
A |
4: 155,888,162 (GRCm39) |
R17H |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,252,365 (GRCm39) |
T465A |
possibly damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,583,757 (GRCm39) |
L66R |
probably benign |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Nr2e1 |
A |
T |
10: 42,447,483 (GRCm39) |
Y176* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,903,541 (GRCm39) |
T7628A |
possibly damaging |
Het |
| Or7a37 |
A |
T |
10: 78,806,390 (GRCm39) |
K302N |
possibly damaging |
Het |
| Pitx2 |
T |
G |
3: 129,009,489 (GRCm39) |
V129G |
probably damaging |
Het |
| Polr2e |
A |
G |
10: 79,873,897 (GRCm39) |
|
probably benign |
Het |
| Ppard |
A |
G |
17: 28,517,832 (GRCm39) |
D300G |
probably damaging |
Het |
| Ppp1r27 |
A |
G |
11: 120,441,743 (GRCm39) |
V46A |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,177,902 (GRCm39) |
V332E |
probably damaging |
Het |
| Prss30 |
T |
G |
17: 24,191,750 (GRCm39) |
Y257S |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,900,863 (GRCm39) |
E1082G |
probably damaging |
Het |
| Rab3c |
T |
A |
13: 110,317,611 (GRCm39) |
R89S |
probably damaging |
Het |
| Rimbp2 |
A |
G |
5: 128,874,445 (GRCm39) |
V389A |
possibly damaging |
Het |
| Rims1 |
T |
A |
1: 22,635,623 (GRCm39) |
R119S |
probably damaging |
Het |
| Sema3b |
T |
C |
9: 107,480,536 (GRCm39) |
H137R |
probably null |
Het |
| Sf3b4 |
G |
C |
3: 96,080,958 (GRCm39) |
A89P |
probably damaging |
Het |
| Sgta |
T |
A |
10: 80,882,081 (GRCm39) |
Q298L |
probably damaging |
Het |
| Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
| Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
| Sv2a |
A |
G |
3: 96,092,774 (GRCm39) |
E158G |
possibly damaging |
Het |
| Sytl2 |
A |
G |
7: 90,031,071 (GRCm39) |
|
probably benign |
Het |
| Thbs3 |
T |
A |
3: 89,125,283 (GRCm39) |
|
probably benign |
Het |
| Top3a |
A |
T |
11: 60,653,365 (GRCm39) |
N56K |
possibly damaging |
Het |
| Tyk2 |
T |
C |
9: 21,020,677 (GRCm39) |
D918G |
probably damaging |
Het |
| Uqcrh |
A |
G |
4: 115,924,481 (GRCm39) |
|
probably benign |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,814 (GRCm39) |
S167P |
probably damaging |
Het |
| Wdr25 |
C |
A |
12: 108,992,366 (GRCm39) |
H74N |
probably damaging |
Het |
| Zfp458 |
T |
C |
13: 67,404,382 (GRCm39) |
N686D |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,780,515 (GRCm39) |
H512Q |
|
Het |
| Zfp976 |
A |
T |
7: 42,262,902 (GRCm39) |
Y312N |
probably benign |
Het |
| Zscan4c |
G |
A |
7: 10,743,462 (GRCm39) |
V354I |
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 |
|
|
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'- AGTAGGTAAGCTGCTGGTCG -3'
(R):5'- AGCCTGTTGATATCCCCACTG -3'
Sequencing Primer
(F):5'- AAGCTGCTGGTCGTGGAAC -3'
(R):5'- GCAGCAACAGCAGTTCTATG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation