Incidental Mutation 'R5335:Sry'
ID 423506
Institutional Source Beutler Lab
Gene Symbol Sry
Ensembl Gene ENSMUSG00000069036
Gene Name sex determining region of Chr Y
Synonyms Tdy, Tdf
MMRRC Submission 042916-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R5335 (G1)
Quality Score 222
Status Validated
Chromosome Y
Chromosomal Location 2662471-2663658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 2663647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 4 (H4Q)
Ref Sequence ENSEMBL: ENSMUSP00000088717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091178]
AlphaFold Q05738
Predicted Effect probably benign
Transcript: ENSMUST00000091178
AA Change: H4Q

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036
AA Change: H4Q

DomainStartEndE-ValueType
HMG 4 74 2.76e-24 SMART
low complexity region 144 366 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (62/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010003K11Rik A G 19: 4,548,292 (GRCm39) W86R probably damaging Het
Ankrd6 T C 4: 32,818,651 (GRCm39) E225G probably damaging Het
Atxn10 A G 15: 85,220,785 (GRCm39) probably null Het
Bcas2 A G 3: 103,082,951 (GRCm39) I146V probably damaging Het
C2cd6 T A 1: 59,043,393 (GRCm39) noncoding transcript Het
Cachd1 G A 4: 100,825,282 (GRCm39) V579I possibly damaging Het
Col11a1 A G 3: 113,888,889 (GRCm39) T311A unknown Het
Cyp2c50 A T 19: 40,079,060 (GRCm39) L134F probably benign Het
Cyp2j11 T C 4: 96,195,589 (GRCm39) H369R probably damaging Het
Dis3 A G 14: 99,335,089 (GRCm39) V171A possibly damaging Het
Dnah12 A G 14: 26,601,695 (GRCm39) N3718D probably damaging Het
Dnah17 T C 11: 118,003,340 (GRCm39) I541V probably damaging Het
Eif3i T C 4: 129,488,979 (GRCm39) D86G probably benign Het
Epc1 C T 18: 6,490,689 (GRCm39) probably benign Het
Epc2 A G 2: 49,403,242 (GRCm39) N110S probably benign Het
Epha8 A T 4: 136,659,246 (GRCm39) L831Q probably damaging Het
Esd G T 14: 74,979,553 (GRCm39) R119I probably damaging Het
F2 T C 2: 91,465,277 (GRCm39) K96E possibly damaging Het
Fcgbp T C 7: 27,789,159 (GRCm39) V575A probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gemin6 T C 17: 80,533,184 (GRCm39) V39A probably damaging Het
Glmp G T 3: 88,233,962 (GRCm39) probably benign Het
Gm10306 C A 4: 94,445,044 (GRCm39) probably benign Het
Gm4846 A T 1: 166,325,022 (GRCm39) L23* probably null Het
Grik1 CGG CGGG 16: 87,720,082 (GRCm39) probably null Het
Ifi203 T C 1: 173,754,485 (GRCm39) T749A possibly damaging Het
Kcnip2 C A 19: 45,782,685 (GRCm39) A133S probably benign Het
Limch1 A T 5: 67,039,300 (GRCm39) I76F probably damaging Het
Mcph1 T A 8: 18,739,077 (GRCm39) probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtcl3 A T 10: 29,023,102 (GRCm39) I150L probably benign Het
Myh7 A G 14: 55,224,020 (GRCm39) probably benign Het
Odad2 A T 18: 7,294,566 (GRCm39) Y16N probably benign Het
Opcml A G 9: 28,586,621 (GRCm39) D113G possibly damaging Het
Or1j17 A T 2: 36,578,106 (GRCm39) I31F probably benign Het
Or1x2 A C 11: 50,918,161 (GRCm39) N111H probably benign Het
Or2ag18 A C 7: 106,404,941 (GRCm39) S243A probably damaging Het
Or2b6 A C 13: 21,822,949 (GRCm39) V248G probably damaging Het
Or51f1d A C 7: 102,700,742 (GRCm39) D79A probably damaging Het
Or52s19 A C 7: 103,007,729 (GRCm39) L224R probably damaging Het
Or5j1 T G 2: 86,879,509 (GRCm39) K24Q probably damaging Het
Pcdhb1 G T 18: 37,400,308 (GRCm39) C753F probably benign Het
Phip T C 9: 82,782,809 (GRCm39) S879G possibly damaging Het
Pi4k2b A G 5: 52,899,098 (GRCm39) D13G possibly damaging Het
Ptpn18 A T 1: 34,502,259 (GRCm39) I68F probably damaging Het
Rnf168 C T 16: 32,117,402 (GRCm39) T321I possibly damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Srgap1 C T 10: 121,621,282 (GRCm39) probably benign Het
Taf2 G A 15: 54,909,136 (GRCm39) A703V probably benign Het
Taf5l A G 8: 124,730,390 (GRCm39) F65L probably damaging Het
Tcp10b T C 17: 13,281,954 (GRCm39) probably null Het
Timm44 A T 8: 4,316,814 (GRCm39) I273N probably damaging Het
Tspan4 A G 7: 141,069,528 (GRCm39) T43A probably damaging Het
Ube2r2 T C 4: 41,190,846 (GRCm39) probably benign Het
Urgcp T C 11: 5,667,754 (GRCm39) T195A possibly damaging Het
Vmn1r197 T C 13: 22,512,361 (GRCm39) I94T probably damaging Het
Vmn2r15 A T 5: 109,434,673 (GRCm39) I677K probably damaging Het
Zfp853 T A 5: 143,274,318 (GRCm39) H434L unknown 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
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
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'- TAGGATCTTCAATCTCTGTGCC -3'
(R):5'- AGCACATTTTGGTCAGTGGC -3'

Sequencing Primer
(F):5'- TCTGTGCCTCCTGGAAAAAG -3'
(R):5'- GGTCAGTGGCTTTTAGCTCTTACAC -3'
Posted On 2016-08-04