|Institutional Source||Beutler Lab|
|Gene Name||doublesex and mab-3 related transcription factor 1|
|Is this an essential gene?||Possibly essential (E-score: 0.619)|
|Stock #||R7961 (G1)|
|Chromosomal Location||25505618-25604329 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 25545881 bp|
|Amino Acid Change||Serine to Threonine at position 199 (S199T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025755 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025755] [ENSMUST00000087525]|
|Predicted Effect||possibly damaging
AA Change: S199T
PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: S199T
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1712|
|Coding Region Coverage||
|Validation Efficiency||94% (44/47)|
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||
|Other mutations in Dmrt1||
(F):5'- AAGGCAAGATCTGTGGACCG -3'
(R):5'- CTGGTTTCCAGTCTGAGCAG -3'
(F):5'- GATCTGTGGACCGCCTACATTAAATC -3'
(R):5'- TTTCCAGTCTGAGCAGGCACG -3'