Incidental Mutation 'RF008:Sry'
ID 603024
Institutional Source Beutler Lab
Gene Symbol Sry
Ensembl Gene ENSMUSG00000069036
Gene Name sex determining region of Chr Y
Synonyms Tdy, Tdf
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # RF008 (G1)
Quality Score 214.458
Status Not validated
Chromosome Y
Chromosomal Location 2662471-2663658 bp(-) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) TGCTGCTGCTG to TGCTGCTGCTGCTG at 2662826 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: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency 100% (45/45)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp CCACGACC CCACGACCACGACC 16: 56,447,952 (GRCm39) probably benign Het
Acan T G 7: 78,742,148 (GRCm39) V515G possibly damaging Het
Acap3 TGG TGGACTGCTGCATCCAGG 4: 155,989,555 (GRCm39) probably benign Het
AI837181 G GGCT 19: 5,475,266 (GRCm39) probably benign Het
Ankhd1 GGCGGC GGCGGCAGCGGC 18: 36,693,977 (GRCm39) probably benign Het
Anks1b G A 10: 89,869,087 (GRCm39) G49D probably damaging Het
Arid1b GCG GCGACG 17: 5,045,869 (GRCm39) probably benign Het
Arid1b CGG CGGAGG 17: 5,045,870 (GRCm39) probably benign Het
Begain G GCCGCCC 12: 108,999,363 (GRCm39) probably null Het
Cacna1e A G 1: 154,317,882 (GRCm39) M1500T probably damaging Het
Casp16 C A 17: 23,774,201 (GRCm39) probably benign Het
Ccdc174 T C 6: 91,876,347 (GRCm39) S395P possibly damaging Het
Ccdc7a T G 8: 129,691,434 (GRCm39) Q396H probably damaging Het
Ccdc85c CC CCGGC 12: 108,240,887 (GRCm39) probably benign Het
Cemip T C 7: 83,610,843 (GRCm39) T704A probably damaging Het
Cfap68 C T 9: 50,677,067 (GRCm39) R8H probably benign Het
Col7a1 C T 9: 108,793,547 (GRCm39) P1370S unknown Het
Cts8 T C 13: 61,397,102 (GRCm39) I273V probably benign Het
Cyp2c50 T A 19: 40,078,268 (GRCm39) I42N probably damaging Het
Dbt T G 3: 116,341,717 (GRCm39) Y439* probably null Het
Dennd1b T A 1: 138,981,135 (GRCm39) D116E probably damaging Het
Dkk2 T A 3: 131,883,863 (GRCm39) H254Q probably damaging Het
Dpy30 C A 17: 74,622,902 (GRCm39) V27F possibly damaging Het
Efhd2 GCCGCC GCCGCCCCCGCC 4: 141,602,069 (GRCm39) probably benign Het
Eif4g3 A T 4: 137,903,235 (GRCm39) E1020V probably damaging Het
Elmo1 T A 13: 20,458,706 (GRCm39) S156T probably benign Het
Fancd2os T C 6: 113,574,881 (GRCm39) T42A probably damaging Het
Fbrsl1 TGTGC TGTGCGGGTGTGGGTGC 5: 110,525,984 (GRCm39) probably benign Het
Fsip2 T C 2: 82,808,184 (GRCm39) V1501A probably benign Het
Gabrb2 A G 11: 42,517,705 (GRCm39) Y509C probably damaging Het
Gm8369 GTGT GTGTTTGT 19: 11,489,118 (GRCm39) probably null Het
Gpr139 T C 7: 118,744,090 (GRCm39) D165G probably benign Het
Grik2 T C 10: 49,120,480 (GRCm39) E603G probably damaging Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
Ifitm10 T A 7: 141,882,330 (GRCm39) M147L unknown Het
Itpkb C T 1: 180,160,887 (GRCm39) R338W probably damaging Het
Kif1b T A 4: 149,336,195 (GRCm39) probably null Het
Krtap28-10 ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC 1: 83,019,974 (GRCm39) probably benign Het
Krtap28-10 AGCCACCACAGC AGCCACCACAGCCACCGCCACCACAGC 1: 83,020,000 (GRCm39) probably benign Het
Krtap28-10 CAGCCA CAGCCATAGCCA 1: 83,019,849 (GRCm39) probably benign Het
Krtap28-10 AGCCAC AGCCACCGCCAC 1: 83,019,856 (GRCm39) probably benign Het
Las1l AGTGG AGTGGTGG X: 94,984,422 (GRCm39) probably benign Het
Mical2 T C 7: 111,922,833 (GRCm39) Y613H probably damaging Het
Mlf2 C A 6: 124,911,259 (GRCm39) H91Q probably benign Het
Nat9 A T 11: 115,074,212 (GRCm39) I152N probably damaging Het
Or10d4c T C 9: 39,558,559 (GRCm39) M179T probably benign Het
Or4a75 A T 2: 89,447,711 (GRCm39) I275N possibly damaging Het
Pdik1l CACCAC CACCACAACCAC 4: 134,006,822 (GRCm39) probably benign Het
Phldb2 T C 16: 45,583,337 (GRCm39) S1054G probably damaging Het
Pkhd1l1 TTTT TTTTTTTTTTGTTT 15: 44,421,901 (GRCm39) probably benign Het
Plcg2 T A 8: 118,300,263 (GRCm39) probably null Het
Polr1has CACCACCACCACCACCAC CACCACCACCACCACCACCACAACCACCACCACCACCAC 17: 37,275,946 (GRCm39) probably benign Het
Prdm16 T A 4: 154,426,452 (GRCm39) R444S probably damaging Het
Rgs6 T C 12: 83,110,223 (GRCm39) F163L probably damaging Het
Rnaseh2a A T 8: 85,686,687 (GRCm39) L154* probably null Het
Rpp38 A G 2: 3,330,072 (GRCm39) S277P unknown Het
Setd1a GGTAGTGGT GGTAGTGGTTGTAGTGGT 7: 127,384,486 (GRCm39) probably benign Het
Shisa6 CGACAGCAGCAGAG CG 11: 66,416,749 (GRCm39) probably benign Het
Slc27a2 T A 2: 126,395,175 (GRCm39) L34Q possibly damaging Het
Slc7a6 G A 8: 106,922,030 (GRCm39) V386I probably benign Het
Spry1 C T 3: 37,697,264 (GRCm39) T169I possibly damaging Het
Stk24 A T 14: 121,532,172 (GRCm39) I275N probably benign Het
Strn TC TCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGGC 17: 78,984,716 (GRCm39) probably null Het
Tcp11l2 C A 10: 84,449,388 (GRCm39) P451Q probably damaging Het
Tfeb AGC AGCTGC 17: 48,097,027 (GRCm39) probably benign Het
Trappc9 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 15: 72,673,138 (GRCm39) probably benign Het
V1ra8 A G 6: 90,180,591 (GRCm39) T265A probably benign Het
Zfp106 CTCCTGGCAGT CT 2: 120,355,026 (GRCm39) probably benign Het
Zfp612 C A 8: 110,816,193 (GRCm39) H467N probably damaging Het
Zfp777 A T 6: 48,018,982 (GRCm39) Y317* probably null 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
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
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'- AAGTAGGTAAGCTGCTGGTCG -3'
(R):5'- CCTGTTGATATCCCCACTGG -3'

Sequencing Primer
(F):5'- AAGCTGCTGGTCGTGGAAC -3'
(R):5'- GCAGCAACAGCAGTTCTATG -3'
Posted On 2019-12-04