Incidental Mutation 'R2212:Sry'
ID |
239488 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sry
|
Ensembl Gene |
ENSMUSG00000069036 |
Gene Name |
sex determining region of Chr Y |
Synonyms |
Tdy, Tdf |
MMRRC Submission |
040214-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R2212 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
Y |
Chromosomal Location |
2662471-2663658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 2663339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 107
(N107I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091178]
|
AlphaFold |
Q05738 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091178
AA Change: N107I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000088717 Gene: ENSMUSG00000069036 AA Change: N107I
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: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700062C07Rik |
A |
G |
18: 24,603,977 (GRCm39) |
Y6C |
probably damaging |
Het |
3425401B19Rik |
T |
A |
14: 32,383,559 (GRCm39) |
Q802L |
probably benign |
Het |
Adarb2 |
T |
C |
13: 8,802,654 (GRCm39) |
F643S |
probably damaging |
Het |
Angptl4 |
A |
G |
17: 33,994,392 (GRCm39) |
I401T |
probably damaging |
Het |
Ap2a2 |
T |
A |
7: 141,178,689 (GRCm39) |
N105K |
probably benign |
Het |
Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
Cibar1 |
A |
G |
4: 12,171,696 (GRCm39) |
|
probably null |
Het |
Coq10a |
A |
G |
10: 128,200,998 (GRCm39) |
V93A |
possibly damaging |
Het |
Cyp4f39 |
A |
T |
17: 32,706,037 (GRCm39) |
E376V |
possibly damaging |
Het |
Deup1 |
A |
T |
9: 15,511,139 (GRCm39) |
D213E |
probably benign |
Het |
Ehmt2 |
A |
G |
17: 35,118,341 (GRCm39) |
S39G |
probably benign |
Het |
Eya1 |
T |
A |
1: 14,344,433 (GRCm39) |
|
probably null |
Het |
Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
Flnb |
AAGGAG |
AAG |
14: 7,881,652 (GRCm38) |
|
probably benign |
Het |
Fscn2 |
G |
T |
11: 120,252,417 (GRCm39) |
|
probably benign |
Het |
Gckr |
T |
A |
5: 31,458,211 (GRCm39) |
|
probably null |
Het |
Golgb1 |
A |
G |
16: 36,707,709 (GRCm39) |
K68E |
probably damaging |
Het |
H2-M11 |
G |
A |
17: 36,859,822 (GRCm39) |
V272M |
probably damaging |
Het |
Hace1 |
T |
A |
10: 45,524,771 (GRCm39) |
D234E |
possibly damaging |
Het |
Il18r1 |
A |
T |
1: 40,530,227 (GRCm39) |
D318V |
probably damaging |
Het |
Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
Kcnq3 |
A |
T |
15: 65,892,142 (GRCm39) |
F411Y |
probably benign |
Het |
Kcnt2 |
A |
G |
1: 140,458,538 (GRCm39) |
Y775C |
probably damaging |
Het |
Krt84 |
A |
C |
15: 101,440,973 (GRCm39) |
V73G |
probably benign |
Het |
Lcp2 |
A |
C |
11: 34,020,995 (GRCm39) |
D117A |
probably benign |
Het |
Lemd1 |
C |
A |
1: 132,156,024 (GRCm39) |
T22K |
probably benign |
Het |
Mdm4 |
T |
C |
1: 132,922,260 (GRCm39) |
D294G |
probably damaging |
Het |
Mep1a |
G |
A |
17: 43,788,154 (GRCm39) |
A634V |
probably benign |
Het |
Myh15 |
A |
G |
16: 48,959,095 (GRCm39) |
D989G |
probably benign |
Het |
Myo1g |
G |
T |
11: 6,467,870 (GRCm39) |
H188Q |
possibly damaging |
Het |
Nsmaf |
C |
A |
4: 6,396,732 (GRCm39) |
L918F |
probably damaging |
Het |
Or10d4 |
T |
A |
9: 39,580,524 (GRCm39) |
M57K |
probably damaging |
Het |
Or2v2 |
C |
T |
11: 49,004,043 (GRCm39) |
C170Y |
probably damaging |
Het |
Or51f5 |
T |
C |
7: 102,423,962 (GRCm39) |
L77P |
possibly damaging |
Het |
Or51q1 |
T |
C |
7: 103,628,609 (GRCm39) |
L76P |
probably damaging |
Het |
Pfkfb2 |
A |
T |
1: 130,635,269 (GRCm39) |
N97K |
probably damaging |
Het |
Phlda1 |
A |
T |
10: 111,343,029 (GRCm39) |
E255V |
probably damaging |
Het |
Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
Plcz1 |
C |
T |
6: 139,947,807 (GRCm39) |
R525Q |
probably damaging |
Het |
Ppargc1b |
G |
A |
18: 61,444,291 (GRCm39) |
Q291* |
probably null |
Het |
Ppef2 |
T |
G |
5: 92,376,581 (GRCm39) |
S649R |
probably damaging |
Het |
Ppp1r3b |
A |
G |
8: 35,851,379 (GRCm39) |
T73A |
possibly damaging |
Het |
Prss43 |
G |
C |
9: 110,658,532 (GRCm39) |
Q277H |
probably damaging |
Het |
Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
Serpina3j |
G |
A |
12: 104,280,985 (GRCm39) |
D53N |
probably damaging |
Het |
Sez6l |
A |
G |
5: 112,623,227 (GRCm39) |
L108P |
possibly damaging |
Het |
Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
Spata13 |
A |
G |
14: 60,944,172 (GRCm39) |
T522A |
probably benign |
Het |
Spryd3 |
A |
G |
15: 102,038,711 (GRCm39) |
|
probably null |
Het |
St6galnac1 |
A |
G |
11: 116,656,682 (GRCm39) |
W486R |
probably damaging |
Het |
Syt1 |
G |
T |
10: 108,340,275 (GRCm39) |
P348T |
possibly damaging |
Het |
Taok2 |
T |
C |
7: 126,470,030 (GRCm39) |
I933V |
possibly damaging |
Het |
Tex9 |
C |
A |
9: 72,385,040 (GRCm39) |
Q265H |
possibly damaging |
Het |
Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
Trim59 |
T |
C |
3: 68,944,876 (GRCm39) |
T155A |
probably benign |
Het |
Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
Ubash3a |
A |
T |
17: 31,437,008 (GRCm39) |
Q208H |
probably damaging |
Het |
Ubn2 |
A |
G |
6: 38,475,674 (GRCm39) |
T1211A |
probably benign |
Het |
Vmn2r110 |
A |
T |
17: 20,794,209 (GRCm39) |
|
probably null |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Zfyve28 |
C |
T |
5: 34,357,028 (GRCm39) |
M723I |
probably benign |
Het |
Zmynd8 |
A |
T |
2: 165,657,371 (GRCm39) |
M533K |
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 |
|
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 |
|
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'- CATAGAACTGCTGTTGCTGC -3'
(R):5'- TACAGAGATCAGCAAGCAGC -3'
Sequencing Primer
(F):5'- AACTGCTGTTGCTGCTGGTG -3'
(R):5'- TGCAGGTGGAAAAGCCTTAC -3'
|
Posted On |
2014-10-15 |