Incidental Mutation 'IGL00519:Dmrt1'
ID5677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmrt1
Ensembl Gene ENSMUSG00000024837
Gene Namedoublesex and mab-3 related transcription factor 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.735) question?
Stock #IGL00519
Quality Score
Status
Chromosome19
Chromosomal Location25505618-25604329 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25603274 bp
ZygosityHeterozygous
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]
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: 43,569,525 N309K probably damaging Het
Asap1 G A 15: 64,110,942 P846S probably damaging Het
Atg10 A G 13: 91,154,211 probably benign Het
Cdk18 C A 1: 132,115,488 R433L probably benign Het
Celsr1 A G 15: 86,030,836 Y979H probably damaging Het
Cracr2b T C 7: 141,465,757 probably benign Het
Csmd2 T C 4: 128,483,473 F2049L probably benign Het
Cubn T C 2: 13,282,919 N3450D probably benign Het
Dnah5 A T 15: 28,444,218 D4054V probably benign Het
Dpp8 A T 9: 65,078,008 T783S probably damaging Het
Enpp3 T C 10: 24,787,772 T564A probably benign Het
Exoc6b T C 6: 84,989,453 K180E probably benign Het
Faf1 T A 4: 109,840,381 F301L probably benign Het
Fbxo7 A T 10: 86,029,064 E77V probably damaging Het
Gabpa T G 16: 84,860,601 *455G probably null Het
Hexim2 A T 11: 103,134,079 M1L probably benign Het
Lrrc24 T A 15: 76,718,063 N164I probably damaging Het
Lrrc8b G A 5: 105,481,725 A646T possibly damaging Het
Mansc1 T A 6: 134,610,806 Q136L possibly damaging Het
Mlxip T A 5: 123,447,205 V592E probably benign Het
Ncor2 T C 5: 125,084,924 T429A unknown Het
Tbcd A G 11: 121,575,321 N591S probably damaging Het
Tenm4 T C 7: 96,805,138 probably benign Het
Uri1 A G 7: 37,961,553 S522P probably damaging Het
Ush2a C T 1: 188,444,668 S1343L probably benign Het
Other mutations in Dmrt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03167:Dmrt1 APN 19 25545893 missense possibly damaging 0.66
R0325:Dmrt1 UTSW 19 25546007 missense probably benign 0.39
R0410:Dmrt1 UTSW 19 25506103 missense probably damaging 1.00
R1834:Dmrt1 UTSW 19 25509699 missense probably damaging 0.99
R2830:Dmrt1 UTSW 19 25603294 missense probably benign 0.01
R4696:Dmrt1 UTSW 19 25603310 missense possibly damaging 0.88
R4869:Dmrt1 UTSW 19 25505855 start codon destroyed probably null 0.02
R4870:Dmrt1 UTSW 19 25505855 start codon destroyed probably null 0.02
R5477:Dmrt1 UTSW 19 25509800 missense probably benign 0.01
R5989:Dmrt1 UTSW 19 25545881 missense possibly damaging 0.75
R6490:Dmrt1 UTSW 19 25546031 missense possibly damaging 0.50
R6590:Dmrt1 UTSW 19 25546085 missense probably benign
R6690:Dmrt1 UTSW 19 25546085 missense probably benign
R7911:Dmrt1 UTSW 19 25603328 missense probably benign 0.01
R7920:Dmrt1 UTSW 19 25506019 missense possibly damaging 0.73
R7961:Dmrt1 UTSW 19 25545881 missense possibly damaging 0.75
R8009:Dmrt1 UTSW 19 25545881 missense possibly damaging 0.75
X0064:Dmrt1 UTSW 19 25545891 missense probably damaging 1.00
Z1176:Dmrt1 UTSW 19 25559970 missense possibly damaging 0.81
Posted On2012-04-20