Incidental Mutation 'IGL03167:Dmrt1'
ID 411693
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 # IGL03167
Quality Score
Status
Chromosome 19
Chromosomal Location 25483070-25581692 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25523257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 203 (S203P)
Ref Sequence ENSEMBL: ENSMUSP00000025755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025755] [ENSMUST00000087525]
AlphaFold Q9QZ59
Predicted Effect possibly damaging
Transcript: ENSMUST00000025755
AA Change: S203P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025755
Gene: ENSMUSG00000024837
AA Change: S203P

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 probably benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160814
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A C 6: 34,834,594 (GRCm39) K921T possibly damaging Het
Agtpbp1 A T 13: 59,679,894 (GRCm39) probably benign Het
Ankrd22 A T 19: 34,143,174 (GRCm39) M1K probably null Het
Ano5 G A 7: 51,235,259 (GRCm39) V698I probably damaging Het
Ccnh A G 13: 85,345,685 (GRCm39) probably benign Het
Col15a1 A T 4: 47,282,635 (GRCm39) I771F probably damaging Het
Exoc5 A T 14: 49,288,802 (GRCm39) V82E probably damaging Het
Ffar3 A T 7: 30,554,780 (GRCm39) V180E probably damaging Het
Fhad1 T C 4: 141,700,108 (GRCm39) S381G probably benign Het
Foxf1 C A 8: 121,811,647 (GRCm39) Y170* probably null Het
Glis1 A G 4: 107,293,102 (GRCm39) D75G possibly damaging Het
Gpr151 T C 18: 42,711,439 (GRCm39) H413R probably benign Het
Gtf3c1 T C 7: 125,269,752 (GRCm39) probably null Het
Htt T A 5: 34,976,330 (GRCm39) F711I probably damaging Het
Il1rapl1 A G X: 85,790,867 (GRCm39) I691T possibly damaging Het
Iqgap2 T C 13: 95,821,406 (GRCm39) Y579C probably benign Het
Lingo3 A G 10: 80,671,178 (GRCm39) S251P probably damaging Het
Mbl1 T A 14: 40,880,543 (GRCm39) S144T probably benign Het
Musk A T 4: 58,366,821 (GRCm39) R462W possibly damaging Het
Mynn T C 3: 30,663,191 (GRCm39) L373P probably damaging Het
Myoz2 G A 3: 122,800,139 (GRCm39) R230* probably null Het
Nup35 A G 2: 80,488,660 (GRCm39) probably benign Het
Or14a259 C T 7: 86,013,128 (GRCm39) C139Y probably damaging Het
Or2d4 A G 7: 106,543,852 (GRCm39) S119P probably damaging Het
Or5ak4 C T 2: 85,161,664 (GRCm39) D193N probably benign Het
Or5m3 T A 2: 85,838,511 (GRCm39) Y130* probably null Het
Pira2 A T 7: 3,843,919 (GRCm39) S618T probably damaging Het
Plch1 G A 3: 63,630,165 (GRCm39) probably benign Het
Pparg T G 6: 115,450,188 (GRCm39) F396V probably damaging Het
Scaper T C 9: 55,767,108 (GRCm39) E441G probably damaging Het
Serpinb2 T A 1: 107,450,485 (GRCm39) C161S probably benign Het
Skint5 C T 4: 113,751,047 (GRCm39) E333K unknown Het
Slc22a8 C T 19: 8,587,322 (GRCm39) P461S probably damaging Het
Slc38a6 C T 12: 73,397,311 (GRCm39) Q318* probably null Het
Sycp2 T C 2: 178,021,291 (GRCm39) K512E probably damaging Het
Tas2r103 T A 6: 133,013,623 (GRCm39) N148Y probably damaging Het
Tcf7l1 A G 6: 72,609,979 (GRCm39) M257T possibly damaging Het
Tert T A 13: 73,788,119 (GRCm39) N792K probably damaging Het
Thada A T 17: 84,766,277 (GRCm39) V43E probably damaging Het
Trabd2b T C 4: 114,467,195 (GRCm39) S475P probably benign Het
Vmn2r117 A G 17: 23,696,681 (GRCm39) V242A probably damaging Het
Ypel3 A T 7: 126,379,247 (GRCm39) I107F probably damaging Het
Zfp352 T C 4: 90,112,939 (GRCm39) S360P probably damaging Het
Other mutations in Dmrt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Dmrt1 APN 19 25,580,638 (GRCm39) missense probably damaging 0.98
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 2016-08-02