Incidental Mutation 'IGL00519:Dmrt1'
ID 5677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmrt1
Ensembl Gene ENSMUSG00000024837
Gene Name doublesex and mab-3 related transcription factor 1
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.668) question?
Stock # IGL00519
Quality Score
Status
Chromosome 19
Chromosomal Location 25483070-25581692 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25580638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 350 (L350P)
Ref Sequence ENSEMBL: ENSMUSP00000025755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025755] [ENSMUST00000087525]
AlphaFold Q9QZ59
Predicted Effect probably damaging
Transcript: ENSMUST00000025755
AA Change: L350P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025755
Gene: ENSMUSG00000024837
AA Change: L350P

DomainStartEndE-ValueType
low complexity region 17 68 N/A INTRINSIC
DM 70 123 1.51e-25 SMART
Pfam:Dmrt1 128 200 2.3e-37 PFAM
low complexity region 219 226 N/A INTRINSIC
low complexity region 326 346 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000087525
SMART Domains Protein: ENSMUSP00000084803
Gene: ENSMUSG00000024837

DomainStartEndE-ValueType
low complexity region 17 68 N/A INTRINSIC
DM 70 123 1.51e-25 SMART
Pfam:Dmrt1 128 185 1.2e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]
PHENOTYPE: Males homozygous for null mutations are sterile and exhibit a complete loss of germ cells between postnatal days 7-14, disorganized seminiferous tubules, and degeneration of Leydig cells. Females are normal and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,022,562 (GRCm39) N309K probably damaging Het
Asap1 G A 15: 63,982,791 (GRCm39) P846S probably damaging Het
Atg10 A G 13: 91,302,330 (GRCm39) probably benign Het
Cdk18 C A 1: 132,043,226 (GRCm39) R433L probably benign Het
Celsr1 A G 15: 85,915,037 (GRCm39) Y979H probably damaging Het
Cracr2b T C 7: 141,045,670 (GRCm39) probably benign Het
Csmd2 T C 4: 128,377,266 (GRCm39) F2049L probably benign Het
Cubn T C 2: 13,287,730 (GRCm39) N3450D probably benign Het
Dnah5 A T 15: 28,444,364 (GRCm39) D4054V probably benign Het
Dpp8 A T 9: 64,985,290 (GRCm39) T783S probably damaging Het
Enpp3 T C 10: 24,663,670 (GRCm39) T564A probably benign Het
Exoc6b T C 6: 84,966,435 (GRCm39) K180E probably benign Het
Faf1 T A 4: 109,697,578 (GRCm39) F301L probably benign Het
Fbxo7 A T 10: 85,864,928 (GRCm39) E77V probably damaging Het
Gabpa T G 16: 84,657,489 (GRCm39) *455G probably null Het
Hexim2 A T 11: 103,024,905 (GRCm39) M1L probably benign Het
Lrrc24 T A 15: 76,602,263 (GRCm39) N164I probably damaging Het
Lrrc8b G A 5: 105,629,591 (GRCm39) A646T possibly damaging Het
Mansc1 T A 6: 134,587,769 (GRCm39) Q136L possibly damaging Het
Mlxip T A 5: 123,585,268 (GRCm39) V592E probably benign Het
Ncor2 T C 5: 125,161,988 (GRCm39) T429A unknown Het
Tbcd A G 11: 121,466,147 (GRCm39) N591S probably damaging Het
Tenm4 T C 7: 96,454,345 (GRCm39) probably benign Het
Uri1 A G 7: 37,660,978 (GRCm39) S522P probably damaging Het
Ush2a C T 1: 188,176,865 (GRCm39) S1343L probably benign Het
Other mutations in Dmrt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03167:Dmrt1 APN 19 25,523,257 (GRCm39) missense possibly damaging 0.66
R0325:Dmrt1 UTSW 19 25,523,371 (GRCm39) missense probably benign 0.39
R0410:Dmrt1 UTSW 19 25,483,467 (GRCm39) missense probably damaging 1.00
R1834:Dmrt1 UTSW 19 25,487,063 (GRCm39) missense probably damaging 0.99
R2830:Dmrt1 UTSW 19 25,580,658 (GRCm39) missense probably benign 0.01
R4696:Dmrt1 UTSW 19 25,580,674 (GRCm39) missense possibly damaging 0.88
R4869:Dmrt1 UTSW 19 25,483,219 (GRCm39) start codon destroyed probably null 0.02
R4870:Dmrt1 UTSW 19 25,483,219 (GRCm39) start codon destroyed probably null 0.02
R5477:Dmrt1 UTSW 19 25,487,164 (GRCm39) missense probably benign 0.01
R5989:Dmrt1 UTSW 19 25,523,245 (GRCm39) missense possibly damaging 0.75
R6490:Dmrt1 UTSW 19 25,523,395 (GRCm39) missense possibly damaging 0.50
R6590:Dmrt1 UTSW 19 25,523,449 (GRCm39) missense probably benign
R6690:Dmrt1 UTSW 19 25,523,449 (GRCm39) missense probably benign
R7911:Dmrt1 UTSW 19 25,580,692 (GRCm39) missense probably benign 0.01
R7920:Dmrt1 UTSW 19 25,483,383 (GRCm39) missense possibly damaging 0.73
R7961:Dmrt1 UTSW 19 25,523,245 (GRCm39) missense possibly damaging 0.75
R8009:Dmrt1 UTSW 19 25,523,245 (GRCm39) missense possibly damaging 0.75
R9328:Dmrt1 UTSW 19 25,523,231 (GRCm39) missense probably damaging 0.96
R9448:Dmrt1 UTSW 19 25,523,255 (GRCm39) missense possibly damaging 0.95
R9729:Dmrt1 UTSW 19 25,523,362 (GRCm39) missense probably benign 0.00
X0064:Dmrt1 UTSW 19 25,523,255 (GRCm39) missense probably damaging 1.00
Z1176:Dmrt1 UTSW 19 25,537,334 (GRCm39) missense possibly damaging 0.81
Posted On 2012-04-20