Incidental Mutation 'IGL02740:Dmrt2'
ID305843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmrt2
Ensembl Gene ENSMUSG00000048138
Gene Namedoublesex and mab-3 related transcription factor 2
SynonymsTerra
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02740
Quality Score
Status
Chromosome19
Chromosomal Location25672420-25679010 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 25678473 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Isoleucine at position 479 (L479I)
Ref Sequence ENSEMBL: ENSMUSP00000059654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053068]
Predicted Effect possibly damaging
Transcript: ENSMUST00000053068
AA Change: L479I

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000059654
Gene: ENSMUSG00000048138
AA Change: L479I

DomainStartEndE-ValueType
low complexity region 38 74 N/A INTRINSIC
low complexity region 78 115 N/A INTRINSIC
DM 119 172 5.2e-28 SMART
low complexity region 224 229 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display perinatal lethality due to breathing difficulties, multiple axial skeletal defects including kinked tails and rib and vertebral malformations, and abnormal somite organization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 C T 1: 59,169,919 E1494K probably benign Het
Antxr2 A G 5: 98,030,392 probably benign Het
Arhgap23 A C 11: 97,475,017 K998Q probably damaging Het
Bap1 A G 14: 31,256,772 N47D possibly damaging Het
Carmil1 A G 13: 24,094,518 I156T probably damaging Het
Ccdc141 T C 2: 77,054,609 T563A probably benign Het
Cct7 T C 6: 85,468,270 F501S probably benign Het
Cd59b A G 2: 104,078,897 I8V probably benign Het
Cep135 T C 5: 76,638,268 probably null Het
Cep170 T G 1: 176,793,600 T4P probably damaging Het
Chaf1a G T 17: 56,067,500 G896W probably damaging Het
Cpt1b A T 15: 89,424,332 L131Q probably damaging Het
Dcaf13 C T 15: 39,145,100 R366* probably null Het
Ddr2 A T 1: 169,984,945 N659K probably damaging Het
Dnah10 A G 5: 124,826,863 probably benign Het
Dsg3 C T 18: 20,527,708 T368M possibly damaging Het
Dspp C A 5: 104,177,238 S489* probably null Het
Eed A C 7: 89,972,256 V112G possibly damaging Het
Ehmt1 T A 2: 24,815,839 probably benign Het
Elavl3 T C 9: 22,036,379 D89G probably benign Het
Ercc5 T C 1: 44,167,492 S522P probably benign Het
Esrrg T C 1: 188,198,741 L320P probably benign Het
Gadl1 T A 9: 116,006,561 Y352* probably null Het
Gemin5 G A 11: 58,151,564 A477V probably damaging Het
Gm3086 A T 12: 69,969,321 probably benign Het
Gm8082 C T 14: 42,989,113 probably benign Het
Gpr180 T C 14: 118,139,749 L54P probably damaging Het
Gpsm1 G A 2: 26,340,573 V512M probably benign Het
Ighv5-4 A G 12: 113,597,480 S107P probably damaging Het
Irak4 T C 15: 94,567,044 *460Q probably null Het
Nfkbiz G T 16: 55,817,954 T381N probably benign Het
Olfr1167 T A 2: 88,149,257 H254L probably damaging Het
Olfr384 A T 11: 73,602,831 N84Y probably benign Het
Olfr910 T C 9: 38,538,930 F12L probably damaging Het
Olfr937 T C 9: 39,060,289 I126V probably benign Het
Pou2f1 G A 1: 165,883,116 Q523* probably null Het
Ptcra A G 17: 46,758,547 S133P probably damaging Het
Ptgfrn A T 3: 101,072,937 D362E possibly damaging Het
Rbm33 A T 5: 28,331,123 D19V probably damaging Het
Rnf4 T A 5: 34,349,554 V74D possibly damaging Het
Rprd1b A G 2: 158,047,979 D7G probably damaging Het
Rrp1b A G 17: 32,059,331 T659A probably damaging Het
Scaf11 T C 15: 96,419,002 N894D probably benign Het
Scn1a G A 2: 66,324,762 R618C probably damaging Het
Scn1a A T 2: 66,318,077 D1041E probably benign Het
Slc43a1 G T 2: 84,859,750 A424S probably damaging Het
Sprtn T C 8: 124,898,303 L49P probably damaging Het
Sv2a G T 3: 96,185,407 R141L possibly damaging Het
Thsd7b C T 1: 129,613,127 S246F probably damaging Het
Tmem117 A T 15: 94,714,982 D133V probably benign Het
Tnn A T 1: 160,140,777 probably benign Het
Triobp G A 15: 78,966,689 V348I probably benign Het
Trps1 A T 15: 50,846,539 D134E probably damaging Het
Ttn T C 2: 76,767,818 I19584V probably benign Het
Uqcrfs1 T C 13: 30,541,023 H178R probably damaging Het
Ush2a A T 1: 188,648,388 Q2298L possibly damaging Het
Vmn2r67 A G 7: 85,136,610 I729T probably damaging Het
Vmn2r79 A T 7: 87,004,158 M544L probably benign Het
Vps41 T A 13: 18,838,680 L404Q probably damaging Het
Xrcc5 T G 1: 72,340,081 probably null Het
Zfp735 A G 11: 73,710,586 K119E possibly damaging Het
Other mutations in Dmrt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02215:Dmrt2 APN 19 25678134 missense probably damaging 1.00
IGL02269:Dmrt2 APN 19 25678459 missense probably benign 0.01
R0141:Dmrt2 UTSW 19 25678291 missense possibly damaging 0.52
R0294:Dmrt2 UTSW 19 25678071 missense probably damaging 1.00
R0352:Dmrt2 UTSW 19 25678662 missense probably damaging 1.00
R0514:Dmrt2 UTSW 19 25675655 critical splice donor site probably null
R1016:Dmrt2 UTSW 19 25675574 missense probably damaging 0.99
R1104:Dmrt2 UTSW 19 25678616 missense probably benign 0.01
R1164:Dmrt2 UTSW 19 25677993 missense possibly damaging 0.89
R1467:Dmrt2 UTSW 19 25673606 missense possibly damaging 0.72
R1467:Dmrt2 UTSW 19 25673606 missense possibly damaging 0.72
R3107:Dmrt2 UTSW 19 25677691 missense probably benign 0.01
R3109:Dmrt2 UTSW 19 25677691 missense probably benign 0.01
R4029:Dmrt2 UTSW 19 25678134 missense probably damaging 0.99
R4841:Dmrt2 UTSW 19 25677667 missense probably damaging 1.00
R5317:Dmrt2 UTSW 19 25673480 missense probably benign 0.00
R6335:Dmrt2 UTSW 19 25673571 missense possibly damaging 0.73
R6554:Dmrt2 UTSW 19 25677948 missense probably damaging 1.00
R6752:Dmrt2 UTSW 19 25678342 missense probably damaging 0.96
X0058:Dmrt2 UTSW 19 25673830 missense possibly damaging 0.95
X0060:Dmrt2 UTSW 19 25673830 missense possibly damaging 0.95
X0063:Dmrt2 UTSW 19 25673830 missense possibly damaging 0.95
Z1088:Dmrt2 UTSW 19 25678642 missense probably damaging 1.00
Posted On2015-04-16