Incidental Mutation 'IGL02883:Dmrta1'
ID362875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmrta1
Ensembl Gene ENSMUSG00000043753
Gene Namedoublesex and mab-3 related transcription factor like family A1
SynonymsDmrt4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02883
Quality Score
Status
Chromosome4
Chromosomal Location89679436-89694772 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89688774 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 156 (S156P)
Ref Sequence ENSEMBL: ENSMUSP00000057488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052478]
Predicted Effect probably benign
Transcript: ENSMUST00000052478
AA Change: S156P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057488
Gene: ENSMUSG00000043753
AA Change: S156P

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,716,972 S186R possibly damaging Het
Acap2 A G 16: 31,096,345 probably benign Het
Cacna1h G T 17: 25,380,532 R1726S probably damaging Het
Cdca2 T C 14: 67,707,497 S133G probably damaging Het
Cep295nl A T 11: 118,333,909 S36R probably benign Het
Crispld1 A G 1: 17,746,789 N190S possibly damaging Het
Crtam A G 9: 40,994,501 V44A probably benign Het
Crtc1 C T 8: 70,406,125 G112S probably benign Het
Cyp17a1 T C 19: 46,669,351 N254S probably benign Het
Eno2 A C 6: 124,766,209 V188G probably damaging Het
Fam20a A T 11: 109,675,127 I427N probably damaging Het
Fat2 T C 11: 55,256,618 K3933E probably benign Het
Gm15448 A G 7: 3,822,180 S488P possibly damaging Het
Igkv8-30 T C 6: 70,117,617 M1V probably null Het
Ist1 G A 8: 109,683,668 probably benign Het
Kank4 T C 4: 98,773,453 E765G possibly damaging Het
Kat14 T C 2: 144,393,529 L92S probably damaging Het
Kcnu1 G A 8: 25,849,827 V58I probably benign Het
Lrba T A 3: 86,445,413 I1956N probably damaging Het
Lrba T A 3: 86,354,206 V1489E probably damaging Het
Mdn1 G A 4: 32,763,199 V5100I probably benign Het
Mkrn2os C A 6: 115,586,709 G122* probably null Het
Nme3 T C 17: 24,896,906 Y78H probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ppp2r5c T G 12: 110,522,563 V56G possibly damaging Het
Pramef25 T C 4: 143,949,848 T229A possibly damaging Het
Prdm10 G A 9: 31,327,348 V179M probably damaging Het
Rab11fip2 A G 19: 59,906,998 V344A probably damaging Het
Selp G A 1: 164,130,102 A267T probably benign Het
Sf3a1 T A 11: 4,179,192 W718R probably damaging Het
Taar9 T C 10: 24,109,480 N19D probably benign Het
Tas2r113 T G 6: 132,893,419 S137A probably damaging Het
Traf4 A T 11: 78,161,621 I66N possibly damaging Het
Ucp3 A T 7: 100,480,642 T164S probably benign Het
Uggt1 A T 1: 36,177,615 N96K probably benign Het
Uqcc1 T A 2: 155,911,829 Q42L possibly damaging Het
Vmn1r128 A G 7: 21,349,515 K48R probably benign Het
Other mutations in Dmrta1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02154:Dmrta1 APN 4 89691913 missense probably benign 0.04
IGL02572:Dmrta1 APN 4 89691558 missense probably benign 0.01
IGL02875:Dmrta1 APN 4 89691748 missense possibly damaging 0.70
R0097:Dmrta1 UTSW 4 89688872 missense probably benign 0.08
R0097:Dmrta1 UTSW 4 89688872 missense probably benign 0.08
R0394:Dmrta1 UTSW 4 89692039 missense probably damaging 1.00
R2093:Dmrta1 UTSW 4 89691505 missense probably benign
R2132:Dmrta1 UTSW 4 89688709 missense probably damaging 1.00
R2133:Dmrta1 UTSW 4 89688709 missense probably damaging 1.00
R2401:Dmrta1 UTSW 4 89691616 missense probably benign 0.00
R3694:Dmrta1 UTSW 4 89692178 nonsense probably null
R3695:Dmrta1 UTSW 4 89692178 nonsense probably null
R3891:Dmrta1 UTSW 4 89691594 missense possibly damaging 0.93
R3892:Dmrta1 UTSW 4 89691594 missense possibly damaging 0.93
R3929:Dmrta1 UTSW 4 89691444 nonsense probably null
R4620:Dmrta1 UTSW 4 89688784 missense probably benign 0.05
R4927:Dmrta1 UTSW 4 89691748 missense probably damaging 1.00
R4982:Dmrta1 UTSW 4 89688564 missense probably damaging 1.00
R5312:Dmrta1 UTSW 4 89692047 missense probably damaging 0.99
R5437:Dmrta1 UTSW 4 89691756 missense possibly damaging 0.71
R5637:Dmrta1 UTSW 4 89688831 missense probably benign
R6185:Dmrta1 UTSW 4 89691768 missense probably damaging 0.97
R6906:Dmrta1 UTSW 4 89691966 missense probably benign 0.06
R7156:Dmrta1 UTSW 4 89688463 missense probably damaging 0.99
R7201:Dmrta1 UTSW 4 89692171 nonsense probably null
R7755:Dmrta1 UTSW 4 89691933 missense probably benign 0.01
R7862:Dmrta1 UTSW 4 89688324 missense probably benign 0.00
R7880:Dmrta1 UTSW 4 89688844 missense possibly damaging 0.95
R7945:Dmrta1 UTSW 4 89688324 missense probably benign 0.00
R7963:Dmrta1 UTSW 4 89688844 missense possibly damaging 0.95
Z1177:Dmrta1 UTSW 4 89688408 missense probably damaging 0.97
Z1177:Dmrta1 UTSW 4 89688454 missense probably benign 0.37
Z1177:Dmrta1 UTSW 4 89688498 missense probably benign 0.16
Posted On2015-12-18