Incidental Mutation 'R7678:Sry'
| ID |
592613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sry
|
| Ensembl Gene |
ENSMUSG00000069036 |
| Gene Name |
sex determining region of Chr Y |
| Synonyms |
Tdy, Tdf |
| MMRRC Submission |
045745-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R7678 (G1)
|
| Quality Score |
221.999 |
|
Status
|
Validated
|
| Chromosome |
Y |
| Chromosomal Location |
2662471-2663658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 2663248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 137
(D137E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091178]
|
| AlphaFold |
Q05738 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091178
AA Change: D137E
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036
AA Change: D137E
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
A |
5: 8,137,750 (GRCm39) |
|
probably null |
Het |
| Ank1 |
A |
G |
8: 23,607,074 (GRCm39) |
D1325G |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,242,572 (GRCm39) |
S1042P |
probably damaging |
Het |
| Bpifb1 |
C |
T |
2: 154,044,649 (GRCm39) |
H39Y |
possibly damaging |
Het |
| Capn13 |
C |
A |
17: 73,622,300 (GRCm39) |
M663I |
probably damaging |
Het |
| Cemip2 |
C |
A |
19: 21,775,480 (GRCm39) |
T241K |
probably damaging |
Het |
| Clec2g |
A |
G |
6: 128,956,400 (GRCm39) |
E72G |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,558,768 (GRCm39) |
Y1899F |
probably damaging |
Het |
| Ctbp2 |
A |
G |
7: 132,616,353 (GRCm39) |
V194A |
probably benign |
Het |
| Cttnbp2 |
G |
T |
6: 18,382,809 (GRCm39) |
L1320I |
probably damaging |
Het |
| E2f2 |
T |
A |
4: 135,920,137 (GRCm39) |
L374* |
probably null |
Het |
| Echdc3 |
C |
T |
2: 6,217,687 (GRCm39) |
G29S |
probably benign |
Het |
| Ecm1 |
A |
G |
3: 95,643,494 (GRCm39) |
S269P |
probably damaging |
Het |
| Elmo2 |
G |
A |
2: 165,133,664 (GRCm39) |
P775S |
unknown |
Het |
| Eno3 |
T |
A |
11: 70,549,993 (GRCm39) |
|
probably null |
Het |
| Faf1 |
G |
A |
4: 109,687,061 (GRCm39) |
R267K |
probably benign |
Het |
| Fam162a |
G |
A |
16: 35,870,307 (GRCm39) |
|
probably benign |
Het |
| Fam178b |
T |
A |
1: 36,603,532 (GRCm39) |
D473V |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,173,156 (GRCm39) |
T2519I |
probably damaging |
Het |
| Foxc2 |
A |
G |
8: 121,844,834 (GRCm39) |
Y494C |
probably damaging |
Het |
| Gcnt2 |
C |
A |
13: 41,107,195 (GRCm39) |
Q355K |
probably benign |
Het |
| Glg1 |
G |
T |
8: 111,905,497 (GRCm39) |
H595N |
probably benign |
Het |
| Gm9913 |
A |
T |
2: 125,348,480 (GRCm39) |
H97L |
unknown |
Het |
| Hbegf |
T |
A |
18: 36,640,601 (GRCm39) |
N152I |
possibly damaging |
Het |
| Hipk1 |
G |
A |
3: 103,667,866 (GRCm39) |
T567I |
probably damaging |
Het |
| Idh3a |
C |
T |
9: 54,502,453 (GRCm39) |
P78S |
probably damaging |
Het |
| Igsf10 |
A |
T |
3: 59,226,761 (GRCm39) |
M2304K |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,573,428 (GRCm39) |
T723A |
unknown |
Het |
| Itpr2 |
A |
T |
6: 146,089,048 (GRCm39) |
F2220Y |
probably benign |
Het |
| Kpnb1 |
C |
T |
11: 97,059,999 (GRCm39) |
R557Q |
probably damaging |
Het |
| Lefty1 |
A |
G |
1: 180,764,325 (GRCm39) |
D155G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,409,922 (GRCm39) |
C1554R |
probably damaging |
Het |
| Lrrc10 |
A |
G |
10: 116,881,662 (GRCm39) |
D112G |
probably benign |
Het |
| Med12l |
A |
G |
3: 58,984,141 (GRCm39) |
E439G |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,301,868 (GRCm39) |
F185Y |
probably benign |
Het |
| Mtmr6 |
T |
A |
14: 60,527,101 (GRCm39) |
M234K |
probably damaging |
Het |
| Myh7b |
C |
A |
2: 155,459,698 (GRCm39) |
|
probably null |
Het |
| Myo1d |
T |
C |
11: 80,567,719 (GRCm39) |
M254V |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,465,662 (GRCm39) |
V1368A |
probably damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Neb |
A |
G |
2: 52,096,714 (GRCm39) |
V4999A |
probably damaging |
Het |
| Npbwr1 |
G |
T |
1: 5,986,927 (GRCm39) |
Q196K |
probably benign |
Het |
| Nsd3 |
A |
T |
8: 26,149,833 (GRCm39) |
E339D |
possibly damaging |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Or11g1 |
T |
C |
14: 50,651,471 (GRCm39) |
F157L |
probably damaging |
Het |
| Or6c206 |
A |
G |
10: 129,096,937 (GRCm39) |
S36G |
probably damaging |
Het |
| Or7d11 |
T |
C |
9: 19,965,901 (GRCm39) |
N168S |
probably damaging |
Het |
| Plxna1 |
C |
T |
6: 89,308,882 (GRCm39) |
V1199M |
probably damaging |
Het |
| Ppfibp2 |
T |
A |
7: 107,315,873 (GRCm39) |
M285K |
probably damaging |
Het |
| Ppip5k1 |
A |
G |
2: 121,168,142 (GRCm39) |
Y704H |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Sbspon |
T |
C |
1: 15,929,282 (GRCm39) |
M170V |
probably benign |
Het |
| Scfd2 |
A |
C |
5: 74,619,297 (GRCm39) |
F440V |
probably benign |
Het |
| Slc22a19 |
T |
A |
19: 7,688,302 (GRCm39) |
D86V |
possibly damaging |
Het |
| Smg5 |
A |
G |
3: 88,261,202 (GRCm39) |
N685S |
possibly damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,333 (GRCm39) |
R111G |
possibly damaging |
Het |
| Tbkbp1 |
T |
C |
11: 97,040,309 (GRCm39) |
D35G |
probably damaging |
Het |
| Tcf20 |
A |
T |
15: 82,735,766 (GRCm39) |
V1895D |
possibly damaging |
Het |
| Tfap4 |
G |
T |
16: 4,369,630 (GRCm39) |
Q112K |
possibly damaging |
Het |
| Trmt10c |
T |
A |
16: 55,855,302 (GRCm39) |
D111V |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,688,881 (GRCm39) |
I2415T |
probably benign |
Het |
| Vmn2r107 |
A |
T |
17: 20,576,901 (GRCm39) |
M300L |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,416,943 (GRCm39) |
F72I |
probably benign |
Het |
| Vmn2r53 |
T |
A |
7: 12,332,425 (GRCm39) |
H408L |
probably benign |
Het |
| Zan |
C |
T |
5: 137,461,802 (GRCm39) |
V1126M |
unknown |
Het |
| Zfp493 |
A |
T |
13: 67,927,814 (GRCm39) |
|
probably benign |
Het |
| Zfp618 |
C |
A |
4: 63,004,858 (GRCm39) |
A86E |
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 |
|
|
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 |
|
|
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'- TAAGCTGCTGGTCGTGGA -3'
(R):5'- CTAAAGTGTCACAGAGGAGTGGC -3'
Sequencing Primer
(F):5'- CATGGAACTGATGCTGCTGC -3'
(R):5'- GGCATTTTACAGCCTGCAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation