Incidental Mutation 'R8223:Sry'
ID 636863
Institutional Source Beutler Lab
Gene Symbol Sry
Ensembl Gene ENSMUSG00000069036
Gene Name sex determining region of Chr Y
Synonyms Tdy, Tdf
MMRRC Submission 067641-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R8223 (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 2663204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 152 (Q152L)
Ref Sequence ENSEMBL: ENSMUSP00000088717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091178]
AlphaFold Q05738
Predicted Effect unknown
Transcript: ENSMUST00000091178
AA Change: Q152L
SMART Domains Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036
AA Change: Q152L

DomainStartEndE-ValueType
HMG 4 74 2.76e-24 SMART
low complexity region 144 366 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.2%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,668,692 (GRCm39) W18R probably damaging Het
Alms1 T A 6: 85,620,222 (GRCm39) Y2417* probably null Het
Apold1 T A 6: 134,961,148 (GRCm39) S201T probably benign Het
Arhgap31 G A 16: 38,424,084 (GRCm39) P661S probably benign Het
Cacfd1 T C 2: 26,908,396 (GRCm39) V110A possibly damaging Het
Capn2 A G 1: 182,310,099 (GRCm39) probably null Het
Chadl T C 15: 81,579,335 (GRCm39) E98G possibly damaging Het
Crxos T C 7: 15,631,394 (GRCm39) Y31H probably benign Het
Cyp4f14 A C 17: 33,130,627 (GRCm39) probably null Het
Cyp4f39 T C 17: 32,689,839 (GRCm39) I95T probably benign Het
Dars1 T C 1: 128,299,961 (GRCm39) E341G probably benign Het
Dchs1 G T 7: 105,411,824 (GRCm39) R1431S possibly damaging Het
Dop1a T A 9: 86,400,345 (GRCm39) H1001Q probably damaging Het
Efemp1 T C 11: 28,804,528 (GRCm39) Y19H probably benign Het
Eml1 T G 12: 108,502,569 (GRCm39) F726V probably benign Het
Fdx1 A T 9: 51,859,921 (GRCm39) D136E probably benign Het
Ganab A T 19: 8,888,192 (GRCm39) D446V probably damaging Het
Gusb A G 5: 130,018,953 (GRCm39) V561A probably benign Het
Hcn1 A T 13: 118,010,406 (GRCm39) D328V unknown Het
Hdgfl1 A G 13: 26,954,047 (GRCm39) Y9H probably damaging Het
Hes3 T A 4: 152,371,572 (GRCm39) S101C probably damaging Het
Igkv2-112 T C 6: 68,197,579 (GRCm39) S84P probably benign Het
Ints9 C T 14: 65,257,809 (GRCm39) P330S possibly damaging Het
Kdm7a A T 6: 39,126,235 (GRCm39) N583K probably damaging Het
Klhl10 C T 11: 100,338,227 (GRCm39) T322M probably damaging Het
Kmt2c A T 5: 25,529,216 (GRCm39) V1545D possibly damaging Het
Laptm5 T C 4: 130,653,511 (GRCm39) probably null Het
Ldlr A G 9: 21,658,546 (GRCm39) T833A probably damaging Het
Llgl1 G T 11: 60,593,648 (GRCm39) L40F possibly damaging Het
Lrrc14 T C 15: 76,598,756 (GRCm39) L464S probably damaging Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Lysmd3 T A 13: 81,817,386 (GRCm39) L121H Het
Map2 T C 1: 66,464,649 (GRCm39) S1680P probably damaging Het
Med12l T C 3: 58,993,784 (GRCm39) V583A possibly damaging Het
Mfsd4b5 A G 10: 39,846,246 (GRCm39) Y445H probably damaging Het
Morf4l1 G A 9: 89,979,475 (GRCm39) P169S probably benign Het
Nab2 C A 10: 127,498,645 (GRCm39) V475L probably benign Het
Ola1 A G 2: 72,929,694 (GRCm39) L303P probably damaging Het
Or1j19 T A 2: 36,677,409 (GRCm39) Y291N Het
Or1o2 T C 17: 37,542,727 (GRCm39) D178G possibly damaging Het
Or7e166 T C 9: 19,624,705 (GRCm39) I194T probably benign Het
Or9i2 G T 19: 13,816,225 (GRCm39) T104K probably damaging Het
Pdlim3 A T 8: 46,353,562 (GRCm39) H99L possibly damaging Het
Plagl2 G T 2: 153,073,461 (GRCm39) T480N probably benign Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Ptprq C T 10: 107,535,499 (GRCm39) R422Q probably benign Het
Rad18 T A 6: 112,664,982 (GRCm39) R51* probably null Het
Rpap3 T A 15: 97,589,185 (GRCm39) T250S probably benign Het
Serpinb11 T C 1: 107,305,262 (GRCm39) Y213H probably benign Het
Slc15a4 A G 5: 127,686,080 (GRCm39) F201L possibly damaging Het
Slc25a4 A G 8: 46,663,896 (GRCm39) S22P probably damaging Het
Slfn1 T A 11: 83,012,245 (GRCm39) N120K probably damaging Het
Smok3c T C 5: 138,063,655 (GRCm39) S381P probably benign Het
Taar2 T A 10: 23,817,248 (GRCm39) W263R probably damaging Het
Thnsl1 T A 2: 21,216,924 (GRCm39) V226E probably benign Het
Tmeff2 T C 1: 51,172,279 (GRCm39) probably null Het
Tox A G 4: 6,842,408 (GRCm39) Y41H probably damaging Het
Trank1 T A 9: 111,194,957 (GRCm39) Y994N probably damaging Het
Trim9 C T 12: 70,297,789 (GRCm39) A713T probably damaging Het
Tub T A 7: 108,628,533 (GRCm39) M393K probably benign Het
Ube4a A G 9: 44,871,333 (GRCm39) L22P possibly damaging Het
Usp47 A G 7: 111,703,583 (GRCm39) K1165R probably damaging Het
Usp6nl T A 2: 6,435,327 (GRCm39) I362K probably damaging Het
Vmn1r217 T C 13: 23,298,369 (GRCm39) I178V probably benign Het
Vmn1r45 T A 6: 89,910,074 (GRCm39) T299S probably damaging Het
Vmn2r5 A T 3: 64,398,726 (GRCm39) L751* probably null Het
Xkr8 G A 4: 132,458,246 (GRCm39) P144L probably damaging Het
Zfpm2 T C 15: 40,616,355 (GRCm39) I35T 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
R8082:Sry UTSW Y 2,662,589 (GRCm39) missense unknown
R8212:Sry UTSW Y 2,662,638 (GRCm39) small deletion probably benign
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'- GTAAGCTGCTGGTCGTGGAA -3'
(R):5'- CAGTTGCCTCAACAAAACTGTACAA -3'

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