Incidental Mutation 'RF040:Sry'
ID |
604801 |
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 # |
RF040 (G1)
|
Quality Score |
146.723 |
Status
|
Not validated
|
Chromosome |
Y |
Chromosomal Location |
2662471-2663658 bp(-) (GRCm39) |
Type of Mutation |
small insertion (7 aa in frame mutation) |
DNA Base Change (assembly) |
GCTG to GCTGGTGGTGGTGGTCATGGAACTG
at 2662590 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: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.9%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
TGCTGTG |
TGCTGTGACAGCTGTG |
1: 82,891,298 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
G |
GTGGCTGCTC |
1: 82,891,311 (GRCm39) |
|
probably benign |
Het |
Brme1 |
TG |
TGTCAGGGCAGCAGCAG |
8: 84,894,204 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
CTGAATTGGTTCCCAGACCCGTGT |
CT |
X: 7,485,210 (GRCm39) |
|
probably null |
Het |
Calhm1 |
C |
CTGTGGCTGTGGA |
19: 47,129,716 (GRCm39) |
|
probably benign |
Het |
Cdx1 |
CTGCTG |
CTGCTGATGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,462 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
Dnajc2 |
TAGTTG |
T |
5: 21,962,695 (GRCm39) |
|
probably null |
Het |
Fgd6 |
ATT |
A |
10: 93,880,187 (GRCm39) |
|
probably null |
Het |
Flywch1 |
CTCCTGGTGT |
CTCCTGGTGTGGGGAGGCTACGTACTCACCCAGTCCTGGTGT |
17: 23,981,143 (GRCm39) |
|
probably null |
Het |
Gab3 |
CTT |
CTTTTT |
X: 74,043,633 (GRCm39) |
|
probably benign |
Het |
Garin5a |
C |
CGGGGTCAGAGGGAGGAAGGCTGGATCCTGGATACA |
7: 44,149,945 (GRCm39) |
|
probably null |
Het |
Garin5a |
GGGAGGA |
GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA |
7: 44,149,955 (GRCm39) |
|
probably null |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
Heatr3 |
TAT |
TATTGAT |
8: 88,883,085 (GRCm39) |
|
probably benign |
Het |
Kmt2e |
TTT |
TTTTCTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
Luzp1 |
A |
AGGTGGCCTCTTCAGC |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
AACA |
AACAACA |
X: 70,162,420 (GRCm39) |
|
probably benign |
Het |
Mast4 |
CCTCGGGGACAAGCTGTGAGTTGGGGAAC |
CC |
13: 102,875,749 (GRCm39) |
|
probably benign |
Het |
Med12l |
AGC |
AGCCGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
Med12l |
GCA |
GCATCA |
3: 59,183,410 (GRCm39) |
|
probably benign |
Het |
Mn1 |
CAG |
CAGAAG |
5: 111,567,571 (GRCm39) |
|
probably benign |
Het |
Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
Ncoa6 |
TGCAGC |
TGC |
2: 155,263,651 (GRCm39) |
|
probably benign |
Het |
Nlrp3 |
GGGTA |
G |
11: 59,449,378 (GRCm39) |
|
probably null |
Het |
Nolc1 |
AGCAGCAGC |
AGCAGCAGCCGCAGCAGC |
19: 46,069,802 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,068 (GRCm39) |
|
probably benign |
Het |
Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
Or52z15 |
ACTTGCTGATATCTT |
ACTT |
7: 103,332,145 (GRCm39) |
|
probably null |
Het |
Osmr |
TTCT |
TTCTTCT |
15: 6,867,182 (GRCm39) |
|
probably benign |
Het |
Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
Pdik1l |
AC |
ACCACCGC |
4: 134,006,826 (GRCm39) |
|
probably benign |
Het |
Rpgrip1 |
AGGAAGAGG |
AG |
14: 52,386,994 (GRCm39) |
|
probably null |
Het |
Rragd |
CATGCCTTTCATTCTA |
C |
4: 32,995,150 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
CTGA |
C |
2: 112,740,869 (GRCm39) |
|
probably benign |
Het |
Sh3pxd2b |
CCTGTG |
CCTGTGTCTGTG |
11: 32,373,055 (GRCm39) |
|
probably benign |
Het |
Slc39a4 |
TGTGGTC |
TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC |
15: 76,499,066 (GRCm39) |
|
probably benign |
Het |
Smarca2 |
GC |
GCCCCACC |
19: 26,608,422 (GRCm39) |
|
probably benign |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Sprr2b |
CAGTATGCTGTGAGCCTTGTCCTCCT |
C |
3: 92,224,871 (GRCm39) |
|
probably null |
Het |
Tcof1 |
CT |
CTATT |
18: 60,961,480 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
GC |
GCTGCTGAGATGGGCACTTTCCCAGAGATCCCCTTGTC |
18: 60,966,655 (GRCm39) |
|
probably benign |
Het |
Tfeb |
AGC |
AGCCGC |
17: 48,097,036 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCATCA |
17: 48,097,037 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCAACA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
Tfeb |
CAG |
CAGGAG |
17: 48,097,035 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
T |
TCACCTCCCGTGGTCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
Tmem59 |
TTTGTTT |
TTTGTTTGGTTGTTT |
4: 107,047,723 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,141 (GRCm39) |
|
probably benign |
Het |
Triobp |
CAA |
CAACCCCAGGACTCCCTGTGCCCAACGGGGGAA |
15: 78,851,263 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
TT |
TTTAT |
2: 67,355,888 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
CAGCA |
CAGCAACAGGAGCA |
8: 109,682,733 (GRCm39) |
|
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 |
|
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 |
|
RF063:Sry
|
UTSW |
Y |
2,662,595 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACCAACTAGGAATCTCAGACTTAAA -3'
(R):5'- AGCCTGTTGATATCCCCACTG -3'
Sequencing Primer
(F):5'- CTCAGACTTAAAAATCATAGCAAGGG -3'
(R):5'- GCAGCAGCATCAGTTCCATG -3'
|
Posted On |
2019-12-04 |