Incidental Mutation 'R8252:Sry'
ID 640215
Institutional Source Beutler Lab
Gene Symbol Sry
Ensembl Gene ENSMUSG00000069036
Gene Name sex determining region of Chr Y
Synonyms Tdy, Tdf
MMRRC Submission 067678-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R8252 (G1)
Quality Score 221.999
Status Validated
Chromosome Y
Chromosomal Location 2662471-2663658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 2663298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 121 (A121S)
Ref Sequence ENSEMBL: ENSMUSP00000088717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091178]
AlphaFold Q05738
Predicted Effect possibly damaging
Transcript: ENSMUST00000091178
AA Change: A121S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036
AA Change: A121S

DomainStartEndE-ValueType
HMG 4 74 2.76e-24 SMART
low complexity region 144 366 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (60/60)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 T C 2: 22,861,284 (GRCm39) probably benign Het
Ano4 A G 10: 88,816,881 (GRCm39) I644T probably damaging Het
Arhgap18 T A 10: 26,730,932 (GRCm39) D203E probably benign Het
Ascc3 T A 10: 50,518,706 (GRCm39) M337K probably benign Het
Atg13 G C 2: 91,510,699 (GRCm39) P343A probably benign Het
Cacna1c C T 6: 118,634,335 (GRCm39) V1058I Het
Cd180 A G 13: 102,842,504 (GRCm39) T517A probably benign Het
Cd1d2 A C 3: 86,894,375 (GRCm39) I48L probably benign Het
Cdh19 C T 1: 110,817,615 (GRCm39) C709Y probably benign Het
Chst10 T C 1: 38,923,433 (GRCm39) D51G probably benign Het
Clec2g G A 6: 128,958,335 (GRCm39) E184K probably benign Het
Col19a1 T A 1: 24,319,048 (GRCm39) H1014L probably benign Het
Fam135b T A 15: 71,404,872 (GRCm39) H58L probably benign Het
Fam171b A G 2: 83,708,586 (GRCm39) I363V probably benign Het
Hecw1 C A 13: 14,515,425 (GRCm39) G236W probably damaging Het
Htra3 A G 5: 35,810,305 (GRCm39) M459T probably benign Het
Iglc2 A T 16: 19,017,520 (GRCm39) C27* probably null Het
Il36b A T 2: 24,048,825 (GRCm39) T77S possibly damaging Het
Kif1b A T 4: 149,358,262 (GRCm39) N135K probably damaging Het
Krt5 A T 15: 101,620,794 (GRCm39) I151N probably damaging Het
Lama4 A T 10: 38,936,142 (GRCm39) M606L probably benign Het
Lgr6 T A 1: 134,931,215 (GRCm39) S280C probably null Het
Msh3 T A 13: 92,357,569 (GRCm39) T967S probably damaging Het
Ndufb4 T C 16: 37,474,637 (GRCm39) T29A probably benign Het
Nfe2l1 T C 11: 96,710,058 (GRCm39) M724V probably benign Het
Nudt12 T C 17: 59,318,089 (GRCm39) Y52C probably damaging Het
Nutm1 G T 2: 112,082,174 (GRCm39) Q301K probably damaging Het
Or2t46 T A 11: 58,471,958 (GRCm39) I96N probably damaging Het
Or4c102 A G 2: 88,423,011 (GRCm39) R288G probably damaging Het
Or5p50 A G 7: 107,421,776 (GRCm39) I300T probably damaging Het
Or6e1 T A 14: 54,519,704 (GRCm39) Y216F possibly damaging Het
Pcdh9 T C 14: 94,126,086 (GRCm39) Y28C probably damaging Het
Pcdha11 G C 18: 37,140,590 (GRCm39) V740L possibly damaging Het
Pkd1l2 T C 8: 117,767,472 (GRCm39) T1273A probably benign Het
Pla2g4a T C 1: 149,727,058 (GRCm39) D574G probably damaging Het
Prrc2b A T 2: 32,109,392 (GRCm39) Q1719L possibly damaging Het
Psap A G 10: 60,113,511 (GRCm39) probably benign Het
Pwwp3a A G 10: 80,077,694 (GRCm39) I656V probably benign Het
Rab11fip2 C T 19: 59,925,422 (GRCm39) S265N probably benign Het
Rnf10 A T 5: 115,398,373 (GRCm39) D53E probably benign Het
Scgb2b11 T C 7: 31,908,764 (GRCm39) E112G probably benign Het
Scml4 T C 10: 42,800,100 (GRCm39) Y85H noncoding transcript Het
Setd5 T A 6: 113,127,916 (GRCm39) Y1290N probably benign Het
Sgk1 T A 10: 21,873,298 (GRCm39) C375S probably damaging Het
Sik2 A G 9: 50,828,415 (GRCm39) V209A possibly damaging Het
Sipa1l2 A T 8: 126,195,410 (GRCm39) V776D probably damaging Het
Slamf1 T A 1: 171,594,796 (GRCm39) M1K probably null Het
Slc26a7 T C 4: 14,621,415 (GRCm39) probably benign Het
Spg11 G T 2: 121,918,820 (GRCm39) probably benign Het
Sspo C T 6: 48,462,386 (GRCm39) T3719I probably damaging Het
Tcap T C 11: 98,275,171 (GRCm39) S102P probably benign Het
Thap7 T C 16: 17,346,486 (GRCm39) R166G probably benign Het
Tmem229a T C 6: 24,955,580 (GRCm39) Y58C probably damaging Het
Trim8 A G 19: 46,504,059 (GRCm39) Y537C probably damaging Het
Ubr4 T A 4: 139,200,528 (GRCm39) M4692K unknown Het
Uvssa A G 5: 33,549,523 (GRCm39) S395G probably benign Het
Vgll4 G T 6: 114,867,695 (GRCm39) T52K probably damaging Het
Vmn2r7 A G 3: 64,600,527 (GRCm39) L548P probably benign Het
Vmn2r92 T A 17: 18,387,134 (GRCm39) S158T probably damaging Het
Wdr70 A T 15: 8,072,337 (GRCm39) probably benign Het
Zbtb48 A T 4: 152,105,344 (GRCm39) C463S probably damaging 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
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
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'- GTAAGCTGCTGGTCGTGGA -3'
(R):5'- TGAAGATCCTACACAGAGAGAAATAC -3'

Sequencing Primer
(F):5'- CATGGAACTGATGCTGCTGC -3'
(R):5'- CCCAAACTATAAATATCAGCCTCATC -3'
Posted On 2020-07-28