Incidental Mutation 'R1555:Sry'
ID 257006
Institutional Source Beutler Lab
Gene Symbol Sry
Ensembl Gene ENSMUSG00000069036
Gene Name sex determining region of Chr Y
Synonyms Tdy, Tdf
MMRRC Submission 039594-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R1555 (G1)
Quality Score 29
Status Validated
Chromosome Y
Chromosomal Location 2662471-2663658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 2662975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 228 (Q228H)
Ref Sequence ENSEMBL: ENSMUSP00000088717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091178]
AlphaFold Q05738
Predicted Effect unknown
Transcript: ENSMUST00000091178
AA Change: Q228H
SMART Domains Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036
AA Change: Q228H

DomainStartEndE-ValueType
HMG 4 74 2.76e-24 SMART
low complexity region 144 366 N/A INTRINSIC
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency 96% (43/45)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,865,727 (GRCm39) probably null Het
Adamts1 T A 16: 85,594,776 (GRCm39) T358S probably benign Het
Ate1 A T 7: 130,110,821 (GRCm39) F169I probably benign Het
Cdkl4 T A 17: 80,851,043 (GRCm39) probably benign Het
Clcnkb T C 4: 141,139,050 (GRCm39) probably null Het
Col6a4 C T 9: 105,878,085 (GRCm39) R1964Q possibly damaging Het
Dcakd C T 11: 102,891,039 (GRCm39) V17I probably damaging Het
Dcdc5 T G 2: 106,214,480 (GRCm39) noncoding transcript Het
Erc2 T A 14: 27,733,622 (GRCm39) D557E probably damaging Het
Grid2 A T 6: 64,406,668 (GRCm39) D676V possibly damaging Het
Hebp2 G T 10: 18,420,163 (GRCm39) T90K possibly damaging Het
Igkv10-96 C T 6: 68,609,365 (GRCm39) probably benign Het
Mier3 T A 13: 111,844,893 (GRCm39) N248K probably damaging Het
Myo5b A T 18: 74,702,853 (GRCm39) I15F probably damaging Het
Neurl3 A G 1: 36,305,613 (GRCm39) V198A probably benign Het
Notch2 C A 3: 98,038,656 (GRCm39) N1266K possibly damaging Het
Nup107 A G 10: 117,587,395 (GRCm39) probably benign Het
Or52e8b T C 7: 104,673,729 (GRCm39) I153V probably benign Het
Or6d14 A T 6: 116,533,787 (GRCm39) I134F probably damaging Het
Phf3 G T 1: 30,844,958 (GRCm39) H1334N possibly damaging Het
Phyhd1 T A 2: 30,164,718 (GRCm39) I100N probably damaging Het
Rad21l T A 2: 151,500,348 (GRCm39) T224S probably benign Het
Rxra C T 2: 27,638,690 (GRCm39) A231V probably benign Het
Sac3d1 T C 19: 6,168,435 (GRCm39) D61G probably damaging Het
Sbf1 A G 15: 89,189,279 (GRCm39) Y481H probably damaging Het
Spg11 T C 2: 121,927,858 (GRCm39) E642G probably damaging Het
Spta1 A G 1: 174,006,315 (GRCm39) Y159C probably damaging Het
Tedc1 G T 12: 113,120,117 (GRCm39) probably benign Het
Tmem200a A T 10: 25,869,782 (GRCm39) D162E probably damaging Het
Tmprss11e T A 5: 86,863,447 (GRCm39) Q206L probably damaging Het
Tpra1 A G 6: 88,887,185 (GRCm39) N175S probably damaging Het
Ttll10 T C 4: 156,119,596 (GRCm39) E601G probably benign Het
Ttll6 G T 11: 96,036,408 (GRCm39) D346Y probably damaging Het
U2surp A G 9: 95,348,630 (GRCm39) V874A probably damaging Het
Vwa5b1 T C 4: 138,332,788 (GRCm39) K258R probably benign Het
Xkr6 A G 14: 64,056,374 (GRCm39) Y95C unknown Het
Zfp180 T C 7: 23,800,999 (GRCm39) probably benign Het
Zfp90 A G 8: 107,150,727 (GRCm39) T147A probably benign Het
Other mutations in Sry
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCATGGAACTGATGCTGCTGCTG -3'
(R):5'- AGTAGAGCTGCACACCTGTACTCC -3'

Sequencing Primer
(F):5'- atggaactgctgctgctgtt -3'
(R):5'- ccataaccaccaccagcag -3'
Posted On 2015-01-07