Incidental Mutation 'RF002:Sry'
ID |
602599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sry
|
Ensembl Gene |
ENSMUSG00000069036 |
Gene Name |
sex determining region of Chr Y |
Synonyms |
Tdy, Tdf |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
RF002 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
Y |
Chromosomal Location |
2662471-2663658 bp(-) (GRCm39) |
Type of Mutation |
small deletion (18 aa in frame mutation) |
DNA Base Change (assembly) |
CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG to CTGGTCATGGAACTGCTG
at 2662564 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: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI837181 |
CGG |
CGGTGG |
19: 5,475,262 (GRCm39) |
|
probably benign |
Het |
AI837181 |
GGC |
GGCTGC |
19: 5,475,263 (GRCm39) |
|
probably benign |
Het |
Angptl1 |
A |
T |
1: 156,684,794 (GRCm39) |
Q321L |
possibly damaging |
Het |
AY358078 |
T |
TAGGATAATGC |
14: 52,043,050 (GRCm39) |
|
probably null |
Het |
Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,653 (GRCm39) |
|
probably benign |
Het |
Blm |
CTC |
CTCATCCTCCTCATC |
7: 80,162,675 (GRCm39) |
|
probably benign |
Het |
Car13 |
T |
C |
3: 14,719,974 (GRCm39) |
Y129H |
probably damaging |
Het |
Cd109 |
TTATTTATTTAT |
TTATTTATTTATGTATTTATTTAT |
9: 78,619,805 (GRCm39) |
|
probably benign |
Het |
Cd109 |
TATTTAT |
TATTTATTTATTCATTTAT |
9: 78,619,810 (GRCm39) |
|
probably benign |
Het |
Cdh26 |
T |
C |
2: 178,108,424 (GRCm39) |
C341R |
probably damaging |
Het |
Chga |
GCA |
GCACCA |
12: 102,527,680 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
A |
T |
3: 114,010,650 (GRCm39) |
I1689L |
unknown |
Het |
Dnah6 |
T |
G |
6: 73,078,872 (GRCm39) |
S2364R |
probably benign |
Het |
E4f1 |
CCG |
CCGACG |
17: 24,674,160 (GRCm39) |
|
probably benign |
Het |
Fah |
A |
C |
7: 84,238,836 (GRCm39) |
N336K |
probably damaging |
Het |
Fbxo11 |
A |
T |
17: 88,303,481 (GRCm39) |
I664K |
|
Het |
Fcgbp |
A |
G |
7: 27,789,180 (GRCm39) |
D582G |
probably benign |
Het |
Gabre |
C |
CCGGCTA |
X: 71,313,663 (GRCm39) |
|
probably null |
Het |
Garin5a |
CCTGGGTCTGAGGGAGGA |
CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA |
7: 44,149,944 (GRCm39) |
|
probably null |
Het |
Gm1110 |
A |
G |
9: 26,831,936 (GRCm39) |
Y72H |
probably damaging |
Het |
Inpp5e |
C |
T |
2: 26,298,389 (GRCm39) |
A71T |
possibly damaging |
Het |
Iqcm |
C |
T |
8: 76,304,527 (GRCm39) |
T96I |
probably benign |
Het |
Lce1m |
TGCCACCGCTGC |
TGCCACCGCTGCCGCCACCGCTGC |
3: 92,925,590 (GRCm39) |
|
probably benign |
Het |
Lce1m |
AC |
ACCGCCGCTGCCCC |
3: 92,925,606 (GRCm39) |
|
probably benign |
Het |
Lrch1 |
TTGGTGGTGCTGGTGG |
TTGGTGG |
14: 75,185,014 (GRCm39) |
|
probably benign |
Het |
Lyst |
A |
G |
13: 13,808,948 (GRCm39) |
D206G |
probably benign |
Het |
Map4k5 |
A |
T |
12: 69,903,630 (GRCm39) |
D58E |
probably damaging |
Het |
Mapkapk2 |
A |
G |
1: 130,984,250 (GRCm39) |
S251P |
probably damaging |
Het |
Mcph1 |
CCTG |
CCTGCTG |
8: 18,702,545 (GRCm39) |
|
probably benign |
Het |
Men1 |
T |
C |
19: 6,390,146 (GRCm39) |
S600P |
probably damaging |
Het |
Mllt1 |
C |
T |
17: 57,203,300 (GRCm39) |
V394M |
probably benign |
Het |
Mllt1 |
C |
A |
17: 57,203,301 (GRCm39) |
M393I |
possibly damaging |
Het |
Nacc1 |
T |
C |
8: 85,402,848 (GRCm39) |
E315G |
possibly damaging |
Het |
Nefh |
GGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTAGGGACTTGGCCTC |
11: 4,891,047 (GRCm39) |
|
probably benign |
Het |
Nefh |
GACTTGGCCTC |
GACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,050 (GRCm39) |
|
probably benign |
Het |
Nid2 |
TAACACCGCCA |
TA |
14: 19,801,434 (GRCm39) |
|
probably benign |
Het |
Or5b122 |
T |
A |
19: 13,563,415 (GRCm39) |
I206N |
probably damaging |
Het |
Parp2 |
A |
G |
14: 51,054,843 (GRCm39) |
E262G |
probably damaging |
Het |
Pdik1l |
TTT |
TTTGTTTTTGTGTT |
4: 134,006,686 (GRCm39) |
|
probably null |
Het |
Pop1 |
G |
A |
15: 34,502,583 (GRCm39) |
G90D |
probably damaging |
Het |
Ppp3cc |
T |
C |
14: 70,504,788 (GRCm39) |
T73A |
possibly damaging |
Het |
Prdm15 |
C |
T |
16: 97,600,829 (GRCm39) |
D810N |
probably damaging |
Het |
Prpf4b |
T |
A |
13: 35,068,219 (GRCm39) |
S349R |
unknown |
Het |
Rassf6 |
TCCTGTAGAGCAATGGGGATTC |
TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC |
5: 90,756,780 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
GTAGAGCAATGGGGATTC |
GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC |
5: 90,756,784 (GRCm39) |
|
probably null |
Het |
Sdk2 |
T |
C |
11: 113,776,078 (GRCm39) |
E208G |
probably benign |
Het |
Smurf2 |
G |
T |
11: 106,743,413 (GRCm39) |
P211Q |
probably benign |
Het |
Snx25 |
C |
A |
8: 46,569,218 (GRCm39) |
|
probably null |
Het |
Spata6 |
T |
A |
4: 111,685,502 (GRCm39) |
M469K |
probably benign |
Het |
Spta1 |
G |
T |
1: 174,058,926 (GRCm39) |
A1954S |
possibly damaging |
Het |
Stard8 |
GAG |
GAGTAG |
X: 98,110,121 (GRCm39) |
|
probably null |
Het |
Tfeb |
AGC |
AGCGGC |
17: 48,097,027 (GRCm39) |
|
probably benign |
Het |
Tlcd1 |
T |
A |
11: 78,071,020 (GRCm39) |
L203Q |
probably benign |
Het |
Tlr11 |
T |
C |
14: 50,598,682 (GRCm39) |
F223L |
possibly damaging |
Het |
Usp48 |
T |
A |
4: 137,333,106 (GRCm39) |
V100D |
probably damaging |
Het |
Vinac1 |
A |
G |
2: 128,880,714 (GRCm39) |
F404S |
|
Het |
Vmn2r56 |
G |
A |
7: 12,428,757 (GRCm39) |
T503I |
probably benign |
Het |
Vps18 |
T |
C |
2: 119,127,871 (GRCm39) |
L898P |
probably damaging |
Het |
Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
probably benign |
Het |
Zfp706 |
T |
A |
15: 37,003,949 (GRCm39) |
Y39F |
probably benign |
Het |
Zhx3 |
T |
A |
2: 160,623,726 (GRCm39) |
N147I |
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 |
|
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 |
|
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'- AGGAGAAAAGTCAGTATCTAAACCAAC -3'
(R):5'- GCAGCCTGTTGATATCCCCA -3'
Sequencing Primer
(F):5'- TCTAAACCAACTAGGAATCTCAGAC -3'
(R):5'- GCAGCAGCATCAGTTCCATG -3'
|
Posted On |
2019-12-04 |