Incidental Mutation 'R3552:Sry'
ID |
269028 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sry
|
Ensembl Gene |
ENSMUSG00000069036 |
Gene Name |
sex determining region of Chr Y |
Synonyms |
Tdy, Tdf |
MMRRC Submission |
040669-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R3552 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
Y |
Chromosomal Location |
2662471-2663658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 2663141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 173
(Q173L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091178]
|
AlphaFold |
Q05738 |
Predicted Effect |
unknown
Transcript: ENSMUST00000091178
AA Change: Q173L
|
SMART Domains |
Protein: ENSMUSP00000088717 Gene: ENSMUSG00000069036 AA Change: Q173L
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: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
100% (66/66) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,152,450 (GRCm39) |
Y866N |
probably damaging |
Het |
Agk |
A |
G |
6: 40,371,615 (GRCm39) |
T371A |
probably benign |
Het |
Akna |
T |
C |
4: 63,316,361 (GRCm39) |
M1V |
probably null |
Het |
Aldh7a1 |
T |
C |
18: 56,683,364 (GRCm39) |
|
probably null |
Het |
Ankrd26 |
A |
T |
6: 118,484,737 (GRCm39) |
L1500H |
probably damaging |
Het |
Atp13a5 |
T |
A |
16: 29,129,584 (GRCm39) |
D452V |
probably damaging |
Het |
Bahcc1 |
C |
T |
11: 120,167,598 (GRCm39) |
T1333M |
possibly damaging |
Het |
Carmil3 |
G |
T |
14: 55,744,859 (GRCm39) |
R1276L |
possibly damaging |
Het |
Ccni |
T |
C |
5: 93,335,620 (GRCm39) |
S173G |
probably benign |
Het |
Chrm2 |
A |
T |
6: 36,500,745 (GRCm39) |
I201F |
probably damaging |
Het |
Col16a1 |
A |
G |
4: 129,970,834 (GRCm39) |
T618A |
probably benign |
Het |
Dele1 |
A |
G |
18: 38,391,418 (GRCm39) |
|
probably benign |
Het |
Dock2 |
T |
C |
11: 34,611,787 (GRCm39) |
Y192C |
probably benign |
Het |
Ep400 |
T |
A |
5: 110,877,153 (GRCm39) |
E821V |
unknown |
Het |
Esrrg |
G |
A |
1: 187,882,387 (GRCm39) |
V215I |
probably benign |
Het |
Evx1 |
A |
T |
6: 52,293,908 (GRCm39) |
S359C |
probably damaging |
Het |
Fcrl2 |
A |
G |
3: 87,166,717 (GRCm39) |
I92T |
possibly damaging |
Het |
Gal3st1 |
T |
A |
11: 3,948,110 (GRCm39) |
F106I |
possibly damaging |
Het |
Gm9944 |
T |
C |
4: 144,179,613 (GRCm39) |
|
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hrc |
G |
C |
7: 44,985,757 (GRCm39) |
E303Q |
possibly damaging |
Het |
Kcnh1 |
A |
G |
1: 191,921,074 (GRCm39) |
N118D |
probably damaging |
Het |
Khdrbs1 |
A |
G |
4: 129,614,584 (GRCm39) |
I323T |
possibly damaging |
Het |
Klhdc7b |
T |
C |
15: 89,271,724 (GRCm39) |
Y869H |
probably benign |
Het |
Lrrc4c |
T |
A |
2: 97,460,306 (GRCm39) |
W311R |
probably damaging |
Het |
Megf11 |
A |
G |
9: 64,602,745 (GRCm39) |
D862G |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,415,072 (GRCm39) |
T2673A |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,421,442 (GRCm39) |
S4311G |
probably benign |
Het |
Myo15a |
C |
T |
11: 60,400,489 (GRCm39) |
A1767V |
possibly damaging |
Het |
Neo1 |
T |
A |
9: 58,801,161 (GRCm39) |
K1140M |
probably damaging |
Het |
Oc90 |
T |
C |
15: 65,750,650 (GRCm39) |
Q365R |
possibly damaging |
Het |
Oplah |
C |
T |
15: 76,186,294 (GRCm39) |
D734N |
possibly damaging |
Het |
Or1e19 |
T |
C |
11: 73,316,678 (GRCm39) |
I44V |
probably benign |
Het |
Or4c58 |
A |
C |
2: 89,674,687 (GRCm39) |
M210R |
possibly damaging |
Het |
Or9g3 |
T |
C |
2: 85,590,237 (GRCm39) |
N161S |
possibly damaging |
Het |
Pbx1 |
G |
A |
1: 167,986,362 (GRCm39) |
P411L |
possibly damaging |
Het |
Pcdhga6 |
G |
T |
18: 37,841,270 (GRCm39) |
R330L |
probably benign |
Het |
Phox2b |
C |
A |
5: 67,254,999 (GRCm39) |
R150L |
probably damaging |
Het |
Plscr2 |
A |
G |
9: 92,172,848 (GRCm39) |
E169G |
probably damaging |
Het |
Ptprn2 |
A |
T |
12: 116,852,497 (GRCm39) |
Q518L |
probably benign |
Het |
Rbl1 |
A |
T |
2: 157,037,505 (GRCm39) |
I214K |
probably benign |
Het |
Ryr1 |
T |
A |
7: 28,756,422 (GRCm39) |
Q3464L |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,582,132 (GRCm39) |
I2854F |
probably damaging |
Het |
Shtn1 |
T |
C |
19: 58,963,470 (GRCm39) |
Y615C |
probably benign |
Het |
Sirt5 |
A |
T |
13: 43,536,643 (GRCm39) |
N226Y |
probably damaging |
Het |
Slc30a3 |
G |
A |
5: 31,252,422 (GRCm39) |
|
probably benign |
Het |
Slc5a4b |
A |
G |
10: 75,917,358 (GRCm39) |
V226A |
probably damaging |
Het |
Slf2 |
C |
A |
19: 44,923,390 (GRCm39) |
S68* |
probably null |
Het |
Smyd5 |
G |
A |
6: 85,419,193 (GRCm39) |
E292K |
probably damaging |
Het |
Spns1 |
A |
G |
7: 125,969,543 (GRCm39) |
V512A |
possibly damaging |
Het |
Ssrp1 |
C |
A |
2: 84,874,736 (GRCm39) |
Q519K |
probably benign |
Het |
Tgfbr3 |
T |
C |
5: 107,287,705 (GRCm39) |
E498G |
probably damaging |
Het |
Tnrc6b |
T |
G |
15: 80,764,448 (GRCm39) |
L650W |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,937,695 (GRCm39) |
E3861D |
probably damaging |
Het |
Trbc1 |
G |
T |
6: 41,516,579 (GRCm39) |
|
probably benign |
Het |
Trpm7 |
T |
A |
2: 126,668,630 (GRCm39) |
|
probably benign |
Het |
Usp39 |
G |
A |
6: 72,314,815 (GRCm39) |
T197I |
possibly damaging |
Het |
Vmn1r38 |
T |
C |
6: 66,753,477 (GRCm39) |
H213R |
possibly damaging |
Het |
Washc2 |
A |
G |
6: 116,197,529 (GRCm39) |
D168G |
probably damaging |
Het |
Washc4 |
A |
G |
10: 83,382,720 (GRCm39) |
I45V |
probably benign |
Het |
Zfp352 |
A |
G |
4: 90,113,339 (GRCm39) |
E493G |
probably benign |
Het |
Zfp692 |
C |
T |
11: 58,200,254 (GRCm39) |
T170I |
possibly damaging |
Het |
Zfp735 |
C |
A |
11: 73,602,067 (GRCm39) |
S337* |
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 |
|
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'- TAAGTAGGTAAGCTGCTGGTCG -3'
(R):5'- AGACTGGAGTAGAGCTGCACAC -3'
Sequencing Primer
(F):5'- CATGGAACTGATGCTGCTGC -3'
(R):5'- GAGTAGAGCTGCACACCTGTACTC -3'
|
Posted On |
2015-02-19 |