Incidental Mutation 'R3695:Dmrta1'
ID 268940
Institutional Source Beutler Lab
Gene Symbol Dmrta1
Ensembl Gene ENSMUSG00000043753
Gene Name doublesex and mab-3 related transcription factor like family A1
Synonyms Dmrt4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3695 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 89576435-89583003 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 89580415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 458 (Y458*)
Ref Sequence ENSEMBL: ENSMUSP00000057488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052478]
AlphaFold Q8CFG4
Predicted Effect probably null
Transcript: ENSMUST00000052478
AA Change: Y458*
SMART Domains Protein: ENSMUSP00000057488
Gene: ENSMUSG00000043753
AA Change: Y458*

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik A T X: 111,466,012 (GRCm39) L187F probably damaging Het
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atxn7l1 A G 12: 33,408,696 (GRCm39) N286S probably damaging Het
B430306N03Rik C T 17: 48,626,194 (GRCm39) T129I possibly damaging Het
Cabp2 A G 19: 4,133,593 (GRCm39) T12A probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Gabrr2 A G 4: 33,071,430 (GRCm39) D65G probably damaging Het
Grin3a G T 4: 49,792,704 (GRCm39) T343K possibly damaging Het
Hsp90ab1 T C 17: 45,882,403 (GRCm39) D97G probably damaging Het
Mageb4 G T X: 85,296,000 (GRCm39) R10S probably damaging Het
Mdm4 A G 1: 132,919,731 (GRCm39) L379S probably benign Het
Or8j3c T C 2: 86,253,987 (GRCm39) E11G probably damaging Het
Or8k40 A T 2: 86,584,215 (GRCm39) I289N probably damaging Het
Pde4b C T 4: 102,458,742 (GRCm39) A466V probably damaging Het
Pkd2l2 A G 18: 34,571,843 (GRCm39) N614S possibly damaging Het
Ppp2r2a C A 14: 67,257,199 (GRCm39) D344Y probably damaging Het
Rbm4 A G 19: 4,837,411 (GRCm39) Y358H probably damaging Het
Skic2 A G 17: 35,066,888 (GRCm39) F154S probably damaging Het
St3gal2 A G 8: 111,688,973 (GRCm39) D171G probably damaging Het
Strn T C 17: 78,964,421 (GRCm39) N515D probably damaging Het
Stxbp5l A T 16: 37,061,708 (GRCm39) Y367* probably null Het
Syk A G 13: 52,776,801 (GRCm39) probably null Het
Tgs1 A G 4: 3,604,949 (GRCm39) probably null Het
Tlr5 A T 1: 182,802,912 (GRCm39) R739W probably damaging Het
Tns2 G T 15: 102,021,184 (GRCm39) V942L probably null Het
Tsnaxip1 A G 8: 106,560,167 (GRCm39) T40A possibly damaging Het
Tub A G 7: 108,627,039 (GRCm39) S313G probably benign Het
Vmn2r77 A G 7: 86,450,044 (GRCm39) N97D probably damaging Het
Wscd2 T A 5: 113,689,078 (GRCm39) I28N possibly damaging 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
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
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 89,576,735 (GRCm39) missense probably benign 0.16
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
Predicted Primers PCR Primer
(F):5'- GAGAGCGTCAGATTTTAGTCTTGC -3'
(R):5'- CTGAGAGGCCAAGCTTATGC -3'

Sequencing Primer
(F):5'- TCTTGAAGCTGCGTCTGC -3'
(R):5'- AGTACATTAAAAAGTGTGTGTGTGTG -3'
Posted On 2015-02-19