Incidental Mutation 'R0097:Dmrta1'
ID 41148
Institutional Source Beutler Lab
Gene Symbol Dmrta1
Ensembl Gene ENSMUSG00000043753
Gene Name doublesex and mab-3 related transcription factor like family A1
Synonyms Dmrt4
MMRRC Submission 038383-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0097 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 89576435-89583003 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89577109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 188 (R188S)
Ref Sequence ENSEMBL: ENSMUSP00000057488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052478]
AlphaFold Q8CFG4
Predicted Effect probably benign
Transcript: ENSMUST00000052478
AA Change: R188S

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000057488
Gene: ENSMUSG00000043753
AA Change: R188S

DomainStartEndE-ValueType
low complexity region 20 37 N/A INTRINSIC
DM 82 135 2.31e-30 SMART
low complexity region 151 165 N/A INTRINSIC
Pfam:DMA 314 350 3.3e-21 PFAM
low complexity region 393 404 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131576
Meta Mutation Damage Score 0.1145 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (57/57)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile; however, females exhibit polyovular ovarian follicles while 25% of males display abnormal copulatory behavior toward other males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,206,129 (GRCm39) I353K probably benign Het
Albfm1 T A 5: 90,732,795 (GRCm39) S535R probably benign Het
Arfgap2 T A 2: 91,105,160 (GRCm39) V422E probably benign Het
Baz1b T C 5: 135,227,113 (GRCm39) S105P probably benign Het
Bbs10 T C 10: 111,134,705 (GRCm39) V41A probably damaging Het
Cacna1s T A 1: 136,028,360 (GRCm39) M899K possibly damaging Het
Ccnd2 G A 6: 127,123,015 (GRCm39) A180V probably benign Het
Ciao3 T C 17: 25,995,976 (GRCm39) S67P possibly damaging Het
Cldnd1 A G 16: 58,550,078 (GRCm39) N87S possibly damaging Het
Cyp2c54 T A 19: 40,036,102 (GRCm39) probably benign Het
Cyp2c54 G T 19: 40,036,103 (GRCm39) probably benign Het
Dab2ip G A 2: 35,608,928 (GRCm39) V629M possibly damaging Het
Ddx41 A T 13: 55,683,691 (GRCm39) probably benign Het
Eml3 T A 19: 8,914,015 (GRCm39) F465L probably benign Het
Gm9938 T A 19: 23,701,828 (GRCm39) probably benign Het
Gpr87 G A 3: 59,086,506 (GRCm39) T333I probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Llgl2 T A 11: 115,735,323 (GRCm39) Y59* probably null Het
Lzic A G 4: 149,572,533 (GRCm39) E41G probably damaging Het
Mprip T A 11: 59,649,317 (GRCm39) L1007Q possibly damaging Het
Mtfr2 T A 10: 20,224,122 (GRCm39) S19T probably damaging Het
Mycbp2 A T 14: 103,393,198 (GRCm39) M3121K probably damaging Het
Myocd T A 11: 65,069,840 (GRCm39) M667L possibly damaging Het
Ncam2 A G 16: 81,314,425 (GRCm39) D467G probably damaging Het
Neb T C 2: 52,094,906 (GRCm39) N4882S probably damaging Het
Neu2 A G 1: 87,525,188 (GRCm39) D391G probably benign Het
Nol4 C A 18: 22,852,198 (GRCm39) A456S probably benign Het
Or5m13 T C 2: 85,749,184 (GRCm39) V305A probably benign Het
Padi6 C T 4: 140,458,268 (GRCm39) V513M probably benign Het
Pign G A 1: 105,515,701 (GRCm39) probably benign Het
Plpp2 T C 10: 79,366,371 (GRCm39) E91G possibly damaging Het
Pnp T A 14: 51,188,873 (GRCm39) V222D probably damaging Het
Pnp2 C T 14: 51,200,958 (GRCm39) R148C probably benign Het
Pramel30 T C 4: 144,057,857 (GRCm39) S155P probably benign Het
Prss38 A G 11: 59,266,434 (GRCm39) L8S possibly damaging Het
Rab5b A T 10: 128,518,809 (GRCm39) F108I probably damaging Het
Rbbp5 T A 1: 132,418,227 (GRCm39) H15Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Rsl1 A C 13: 67,329,966 (GRCm39) Q138P probably damaging Het
Ryr3 T C 2: 112,630,400 (GRCm39) D2157G probably damaging Het
Secisbp2l T C 2: 125,613,376 (GRCm39) D206G probably damaging Het
Sh3pxd2b T A 11: 32,353,978 (GRCm39) I182N probably damaging Het
Slc3a1 A T 17: 85,340,288 (GRCm39) I237F probably damaging Het
Svs3b T C 2: 164,098,159 (GRCm39) E54G probably damaging Het
T A T 17: 8,658,733 (GRCm39) probably benign Het
Tenm4 A T 7: 96,542,133 (GRCm39) D1882V probably damaging Het
Tgfbr1 T A 4: 47,403,451 (GRCm39) L283* probably null Het
Tppp3 C T 8: 106,194,554 (GRCm39) A149T probably benign Het
Ubp1 T C 9: 113,802,575 (GRCm39) probably benign Het
Ushbp1 C T 8: 71,843,357 (GRCm39) C314Y probably damaging Het
Vav2 A T 2: 27,189,374 (GRCm39) probably benign Het
Vmn1r228 T C 17: 20,996,625 (GRCm39) M298V probably benign Het
Zmpste24 A T 4: 120,952,740 (GRCm39) probably benign Het
Other mutations in Dmrta1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02154:Dmrta1 APN 4 89,580,150 (GRCm39) missense probably benign 0.04
IGL02572:Dmrta1 APN 4 89,579,795 (GRCm39) missense probably benign 0.01
IGL02875:Dmrta1 APN 4 89,579,985 (GRCm39) missense possibly damaging 0.70
IGL02883:Dmrta1 APN 4 89,577,011 (GRCm39) missense probably benign
R0097:Dmrta1 UTSW 4 89,577,109 (GRCm39) missense probably benign 0.08
R0394:Dmrta1 UTSW 4 89,580,276 (GRCm39) missense probably damaging 1.00
R2093:Dmrta1 UTSW 4 89,579,742 (GRCm39) missense probably benign
R2132:Dmrta1 UTSW 4 89,576,946 (GRCm39) missense probably damaging 1.00
R2133:Dmrta1 UTSW 4 89,576,946 (GRCm39) missense probably damaging 1.00
R2401:Dmrta1 UTSW 4 89,579,853 (GRCm39) missense probably benign 0.00
R3694:Dmrta1 UTSW 4 89,580,415 (GRCm39) nonsense probably null
R3695:Dmrta1 UTSW 4 89,580,415 (GRCm39) nonsense probably null
R3891:Dmrta1 UTSW 4 89,579,831 (GRCm39) missense possibly damaging 0.93
R3892:Dmrta1 UTSW 4 89,579,831 (GRCm39) missense possibly damaging 0.93
R3929:Dmrta1 UTSW 4 89,579,681 (GRCm39) nonsense probably null
R4620:Dmrta1 UTSW 4 89,577,021 (GRCm39) missense probably benign 0.05
R4927:Dmrta1 UTSW 4 89,579,985 (GRCm39) missense probably damaging 1.00
R4982:Dmrta1 UTSW 4 89,576,801 (GRCm39) missense probably damaging 1.00
R5312:Dmrta1 UTSW 4 89,580,284 (GRCm39) missense probably damaging 0.99
R5437:Dmrta1 UTSW 4 89,579,993 (GRCm39) missense possibly damaging 0.71
R5637:Dmrta1 UTSW 4 89,577,068 (GRCm39) missense probably benign
R6185:Dmrta1 UTSW 4 89,580,005 (GRCm39) missense probably damaging 0.97
R6906:Dmrta1 UTSW 4 89,580,203 (GRCm39) missense probably benign 0.06
R7156:Dmrta1 UTSW 4 89,576,700 (GRCm39) missense probably damaging 0.99
R7201:Dmrta1 UTSW 4 89,580,408 (GRCm39) nonsense probably null
R7755:Dmrta1 UTSW 4 89,580,170 (GRCm39) missense probably benign 0.01
R7862:Dmrta1 UTSW 4 89,576,561 (GRCm39) missense probably benign 0.00
R7880:Dmrta1 UTSW 4 89,577,081 (GRCm39) missense possibly damaging 0.95
R8714:Dmrta1 UTSW 4 89,579,682 (GRCm39) missense probably benign
R8841:Dmrta1 UTSW 4 89,579,950 (GRCm39) missense probably benign 0.00
R9028:Dmrta1 UTSW 4 89,579,914 (GRCm39) missense probably damaging 0.96
Z1177:Dmrta1 UTSW 4 89,576,691 (GRCm39) missense probably benign 0.37
Z1177:Dmrta1 UTSW 4 89,576,645 (GRCm39) missense probably damaging 0.97
Z1177:Dmrta1 UTSW 4 89,576,735 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- ACAGCGCACTTGCTGGTTTCTAC -3'
(R):5'- AAGGAGCTGCTGCTCGTTTCTAC -3'

Sequencing Primer
(F):5'- GATCGACCGCAAGCTCC -3'
(R):5'- TCTACACATTCTTGCAGAACAATC -3'
Posted On 2013-05-23