Incidental Mutation 'R8212:Sry'
ID 636232
Institutional Source Beutler Lab
Gene Symbol Sry
Ensembl Gene ENSMUSG00000069036
Gene Name sex determining region of Chr Y
Synonyms Tdy, Tdf
MMRRC Submission 067635-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R8212 (G1)
Quality Score 140.458
Status Not validated
Chromosome Y
Chromosomal Location 2662471-2663658 bp(-) (GRCm39)
Type of Mutation small deletion (10 aa in frame mutation)
DNA Base Change (assembly) GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG to GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG at 2662638 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

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: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (37/38)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,670,240 (GRCm39) I2369V probably benign Het
Ager G A 17: 34,819,586 (GRCm39) R368H possibly damaging Het
Arl2 G T 19: 6,187,596 (GRCm39) T84K probably damaging Het
Cfap126 A T 1: 170,953,630 (GRCm39) T67S probably damaging Het
Cfap45 A G 1: 172,369,067 (GRCm39) probably null Het
Cfdp1 A T 8: 112,571,815 (GRCm39) N31K probably damaging Het
Clpx A G 9: 65,228,173 (GRCm39) T408A possibly damaging Het
Cobll1 T C 2: 64,932,424 (GRCm39) N526S probably benign Het
Cpne1 T C 2: 155,920,134 (GRCm39) D215G probably damaging Het
Cstf1 T C 2: 172,219,872 (GRCm39) S328P probably damaging Het
Cyp2a22 T C 7: 26,637,205 (GRCm39) E193G possibly damaging Het
Fam83c A G 2: 155,671,207 (GRCm39) F743L probably benign Het
Fn1 A G 1: 71,682,064 (GRCm39) I364T probably benign Het
Foxo3 T C 10: 42,072,991 (GRCm39) M509V possibly damaging Het
Galnt6 T C 15: 100,591,308 (GRCm39) T599A probably benign Het
Gm5114 A G 7: 39,060,676 (GRCm39) S58P probably benign Het
Gria4 G A 9: 4,480,242 (GRCm39) A402V probably benign Het
Heatr5a C A 12: 51,946,012 (GRCm39) A1200S probably benign Het
Nlrp5 A T 7: 23,116,762 (GRCm39) D162V probably benign Het
Or14j6 T C 17: 38,215,148 (GRCm39) V237A probably benign Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pcf11 G A 7: 92,308,706 (GRCm39) R589C probably damaging Het
Pkhd1l1 A G 15: 44,362,696 (GRCm39) D574G probably benign Het
Plb1 T C 5: 32,422,250 (GRCm39) S68P probably damaging Het
Plekhs1 A G 19: 56,460,188 (GRCm39) M95V probably damaging Het
Polr2h T C 16: 20,536,746 (GRCm39) probably null Het
Ppef2 T A 5: 92,376,524 (GRCm39) I668L possibly damaging Het
Rbm46 C T 3: 82,772,775 (GRCm39) R119Q probably benign Het
Rwdd1 A G 10: 33,878,523 (GRCm39) V104A probably damaging Het
Slc2a9 G T 5: 38,637,402 (GRCm39) H25N probably benign Het
Slc36a3 T A 11: 55,015,907 (GRCm39) I416F probably damaging Het
Sppl2b T A 10: 80,701,193 (GRCm39) V356D probably damaging Het
Tln1 T C 4: 43,555,918 (GRCm39) T99A probably damaging Het
Tm9sf3 A T 19: 41,229,074 (GRCm39) M243K probably damaging Het
Trnt1 T C 6: 106,746,832 (GRCm39) Y6H probably benign Het
Ttn T A 2: 76,612,626 (GRCm39) H17151L probably benign Het
Ube2o A G 11: 116,439,624 (GRCm39) V182A possibly damaging Het
Zfhx2 G T 14: 55,310,373 (GRCm39) D724E possibly damaging Het
Zfp616 T A 11: 73,976,569 (GRCm39) V946D 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
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'- TGTCATGAGACTGCCAACC -3'
(R):5'- GCCTGTTGATATCCCCACTG -3'

Sequencing Primer
(F):5'- TGAGACTGCCAACCACAGGG -3'
(R):5'- GCAGCAGCATCAGTTCCATG -3'
Posted On 2020-07-13