Incidental Mutation 'R8082:Sry'
ID 629446
Institutional Source Beutler Lab
Gene Symbol Sry
Ensembl Gene ENSMUSG00000069036
Gene Name sex determining region of Chr Y
Synonyms Tdy, Tdf
MMRRC Submission 067515-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R8082 (G1)
Quality Score 221.999
Status Not validated
Chromosome Y
Chromosomal Location 2662471-2663658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 2662589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 357 (Q357L)
Ref Sequence ENSEMBL: ENSMUSP00000088717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091178]
AlphaFold Q05738
Predicted Effect unknown
Transcript: ENSMUST00000091178
AA Change: Q357L
SMART Domains Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036
AA Change: Q357L

DomainStartEndE-ValueType
HMG 4 74 2.76e-24 SMART
low complexity region 144 366 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 94.6%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,188,895 (GRCm39) probably null Het
4921524J17Rik G A 8: 86,136,468 (GRCm39) A133V possibly damaging Het
AAdacl4fm3 A C 4: 144,441,897 (GRCm39) F118C probably damaging Het
Amd1 A G 10: 40,166,508 (GRCm39) F123L probably benign Het
Ankrd34c C A 9: 89,610,768 (GRCm39) K524N probably damaging Het
Bicd2 C T 13: 49,532,529 (GRCm39) Q372* probably null Het
Cadps2 T A 6: 23,323,313 (GRCm39) M1002L probably damaging Het
Calcrl T C 2: 84,200,786 (GRCm39) Y86C possibly damaging Het
Ccdc141 T C 2: 76,954,588 (GRCm39) I220V probably damaging Het
Cep152 T C 2: 125,428,313 (GRCm39) T773A probably benign Het
Cgn A G 3: 94,670,368 (GRCm39) F1029L probably benign Het
Cntnap5b T A 1: 100,306,941 (GRCm39) M515K probably benign Het
Col6a6 T A 9: 105,661,129 (GRCm39) K327* probably null Het
Cspg4 A G 9: 56,793,177 (GRCm39) Y304C probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Dync2i1 T A 12: 116,177,127 (GRCm39) probably null Het
Ecpas G A 4: 58,807,852 (GRCm39) A1672V probably benign Het
Emilin3 A C 2: 160,750,066 (GRCm39) V561G probably damaging Het
Fam3c T A 6: 22,343,303 (GRCm39) D12V unknown Het
Fam83f T C 15: 80,574,119 (GRCm39) V158A probably damaging Het
Fgfbp1 T C 5: 44,136,621 (GRCm39) R224G probably damaging Het
Gid4 A G 11: 60,327,273 (GRCm39) K153E probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Hic2 A G 16: 17,076,563 (GRCm39) H464R probably damaging Het
Ilvbl C T 10: 78,419,987 (GRCm39) R602C probably damaging Het
Ints15 T C 5: 143,297,607 (GRCm39) R147G probably benign Het
Izumo1r T A 9: 14,805,373 (GRCm39) D171V unknown Het
Kel T A 6: 41,680,424 (GRCm39) E12V possibly damaging Het
Klf15 T C 6: 90,443,466 (GRCm39) S14P possibly damaging Het
Lars1 T A 18: 42,377,975 (GRCm39) S147C probably damaging Het
Lgals1 C T 15: 78,814,301 (GRCm39) A122V probably benign Het
Lgsn C T 1: 31,243,273 (GRCm39) H452Y probably benign Het
Lrrc37a T A 11: 103,348,248 (GRCm39) I2816F unknown Het
Mcoln1 T A 8: 3,557,420 (GRCm39) I142K probably benign Het
Met G A 6: 17,492,312 (GRCm39) R358Q probably damaging Het
Mink1 T A 11: 70,504,103 (GRCm39) C1276S possibly damaging Het
Mrc1 T C 2: 14,253,771 (GRCm39) M264T probably benign Het
Mtfr2 C T 10: 20,229,135 (GRCm39) T81M probably benign Het
Myo5c G A 9: 75,182,793 (GRCm39) A811T possibly damaging Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Naip6 T C 13: 100,436,961 (GRCm39) T521A probably benign Het
Ndufs3 T C 2: 90,725,208 (GRCm39) D213G probably damaging Het
Or51k1 T A 7: 103,661,897 (GRCm39) E4V probably benign Het
Or5ac20 T C 16: 59,104,750 (GRCm39) T37A possibly damaging Het
Or5g9 T C 2: 85,551,824 (GRCm39) V25A probably benign Het
Or9g8 T A 2: 85,607,044 (GRCm39) L39I probably benign Het
Otog C T 7: 45,939,143 (GRCm39) R2058C probably damaging Het
Pcdh10 A T 3: 45,336,179 (GRCm39) K831M probably damaging Het
Polr1b A G 2: 128,957,652 (GRCm39) D569G probably benign Het
Polr3b T C 10: 84,491,927 (GRCm39) L362P probably damaging Het
Rims2 G T 15: 39,339,919 (GRCm39) R871L probably benign Het
Shprh T A 10: 11,027,555 (GRCm39) I54N probably benign Het
Sipa1l2 T C 8: 126,218,548 (GRCm39) D263G possibly damaging Het
Slc43a1 C T 2: 84,687,244 (GRCm39) R382C probably benign Het
Sorbs1 T C 19: 40,353,527 (GRCm39) R193G probably benign Het
Spata31e5 T A 1: 28,816,579 (GRCm39) K484N probably benign Het
Taar8b T A 10: 23,967,789 (GRCm39) D135V possibly damaging Het
Tekt3 T G 11: 62,961,056 (GRCm39) V75G probably benign Het
Tm7sf2 A G 19: 6,116,351 (GRCm39) L198P probably damaging Het
Tuba1a C T 15: 98,848,742 (GRCm39) V177I 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
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
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'- ACCAACTAGGAATCTCAGACTTAAAA -3'
(R):5'- AGCCTGTTGATATCCCCACTG -3'

Sequencing Primer
(F):5'- CTCAGACTTAAAAATCATAGCAAGGG -3'
(R):5'- GCAGCAGCATCAGTTCCATG -3'
Posted On 2020-06-30