Mutagenetix > Incidental Mutation

Incidental Mutation 'R4927:Dmrta1'

380893

Institutional Source

Beutler Lab

Gene Symbol

Dmrta1

Ensembl Gene

ENSMUSG00000043753

Gene Name

doublesex and mab-3 related transcription factor like family A1

Synonyms

Dmrt4

MMRRC Submission

042528-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89576435-89583003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89579985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 315 (D315V)

Ref Sequence

ENSEMBL: ENSMUSP00000057488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052478]

AlphaFold

Q8CFG4

Predicted Effect

probably damaging
Transcript: ENSMUST00000052478
AA Change: D315V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057488
Gene: ENSMUSG00000043753
AA Change: D315V

Domain	Start	End	E-Value	Type
low complexity region	20	37	N/A	INTRINSIC
DM	82	135	2.31e-30	SMART
low complexity region	151	165	N/A	INTRINSIC
Pfam:DMA	314	350	3.3e-21	PFAM
low complexity region	393	404	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131576

Meta Mutation Damage Score

0.4359

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (76/78)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile; however, females exhibit polyovular ovarian follicles while 25% of males display abnormal copulatory behavior toward other males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adamts2	T	A	11: 50,694,639 (GRCm39)	L1142*	probably null	Het
Arl13b	C	A	16: 62,622,150 (GRCm39)	G381V	probably damaging	Het
Ash1l	G	T	3: 88,892,641 (GRCm39)	V1507F	probably damaging	Het
Babam2	T	A	5: 31,859,408 (GRCm39)	F38I	probably benign	Het
Bend4	T	C	5: 67,557,619 (GRCm39)	Y399C	probably damaging	Het
Btn1a1	A	T	13: 23,644,794 (GRCm39)		probably null	Het
Cacna1g	A	T	11: 94,319,973 (GRCm39)	L1401Q	probably damaging	Het
Ccdc192	C	T	18: 57,863,888 (GRCm39)	Q213*	probably null	Het
Cep192	T	C	18: 67,968,195 (GRCm39)	V893A	probably benign	Het
Cnot10	A	T	9: 114,447,012 (GRCm39)	Y355N	probably damaging	Het
Col6a5	G	C	9: 105,811,163 (GRCm39)	S785R	unknown	Het
Cpa3	A	G	3: 20,276,303 (GRCm39)	L310P	probably damaging	Het
Cux2	A	G	5: 122,015,152 (GRCm39)	I247T	probably benign	Het
Dab1	A	G	4: 104,561,449 (GRCm39)	T245A	probably benign	Het
Dnah12	T	A	14: 26,583,762 (GRCm39)	L599*	probably null	Het
Dync1h1	T	C	12: 110,629,289 (GRCm39)	I4231T	possibly damaging	Het
Fat1	T	C	8: 45,476,000 (GRCm39)	V1659A	probably damaging	Het
Flot2	G	A	11: 77,949,888 (GRCm39)	V406M	probably damaging	Het
Galnt2	A	G	8: 125,032,362 (GRCm39)	D75G	probably damaging	Het
Gcnt3	A	T	9: 69,942,464 (GRCm39)	C35S	probably damaging	Het
Gp2	A	G	7: 119,052,118 (GRCm39)	F199L	probably benign	Het
Gramd2b	C	T	18: 56,618,523 (GRCm39)	P244S	probably damaging	Het
Hhipl1	T	C	12: 108,278,203 (GRCm39)	L177P	probably damaging	Het
Homez	T	C	14: 55,095,264 (GRCm39)	E148G	possibly damaging	Het
Kcnab3	G	A	11: 69,217,572 (GRCm39)	C22Y	possibly damaging	Het
Kcnh8	C	A	17: 53,185,009 (GRCm39)	S430R	probably damaging	Het
Kcnn2	T	C	18: 45,692,798 (GRCm39)	C125R	probably benign	Het
Klhl7	G	A	5: 24,346,185 (GRCm39)	R277Q	possibly damaging	Het
Krt78	A	G	15: 101,855,334 (GRCm39)	S826P	probably benign	Het
Krtap14	T	C	16: 88,622,919 (GRCm39)	Y20C	possibly damaging	Het
Lrcol1	A	G	5: 110,502,163 (GRCm39)		probably null	Het
Lrrc10b	G	A	19: 10,434,226 (GRCm39)	P152S	probably damaging	Het
Lrrn3	C	G	12: 41,503,124 (GRCm39)	D398H	probably damaging	Het
Map3k19	T	C	1: 127,749,932 (GRCm39)	I1140V	probably benign	Het
Mos	G	A	4: 3,871,093 (GRCm39)	T241M	probably damaging	Het
Nol8	A	G	13: 49,807,901 (GRCm39)	E39G	possibly damaging	Het
Olfm1	T	G	2: 28,104,798 (GRCm39)	S212A	probably benign	Het
Or2ak6	T	A	11: 58,592,633 (GRCm39)	F35L	probably damaging	Het
Pip4p2	G	T	4: 14,912,458 (GRCm39)	R189L	probably damaging	Het
Plec	G	T	15: 76,061,162 (GRCm39)	T2947K	probably damaging	Het
Pramel27	A	T	4: 143,578,187 (GRCm39)	Q149L	probably damaging	Het
Rasgrp3	A	G	17: 75,823,350 (GRCm39)	M474V	probably benign	Het
Ryr1	T	C	7: 28,719,408 (GRCm39)	Y4333C	unknown	Het
Scrn2	G	C	11: 96,924,326 (GRCm39)		probably null	Het
Slc22a12	C	A	19: 6,587,791 (GRCm39)	V388L	probably benign	Het
Slc4a11	A	G	2: 130,526,866 (GRCm39)	V754A	probably damaging	Het
Slco2b1	A	G	7: 99,335,195 (GRCm39)	F195S	probably damaging	Het
Slfn9	A	C	11: 82,872,216 (GRCm39)	M840R	possibly damaging	Het
Speer4b	T	C	5: 27,706,263 (GRCm39)	N35D	probably damaging	Het
Taf1d	T	A	9: 15,221,250 (GRCm39)	D185E	probably damaging	Het
Taok2	A	G	7: 126,475,213 (GRCm39)	L245P	probably damaging	Het
Tent4a	A	T	13: 69,651,019 (GRCm39)		probably null	Het
Ticam2	T	C	18: 46,693,846 (GRCm39)	I80M	probably damaging	Het
Tmem268	G	A	4: 63,502,164 (GRCm39)	V331I	probably benign	Het
Tsga10	T	C	1: 37,840,931 (GRCm39)	E425G	probably damaging	Het
Ttc7	A	G	17: 87,654,133 (GRCm39)		probably null	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Unc13a	T	C	8: 72,107,489 (GRCm39)	H601R	probably damaging	Het
Vmn2r102	A	T	17: 19,880,661 (GRCm39)	M1L	probably benign	Het
Vmn2r120	G	T	17: 57,816,125 (GRCm39)	N743K	probably damaging	Het
Wnt6	C	A	1: 74,823,295 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,823,296 (GRCm39)		probably null	Het
Wnt8a	T	A	18: 34,680,525 (GRCm39)	C297S	probably damaging	Het
Zfp786	T	C	6: 47,797,087 (GRCm39)	Q617R	probably benign	Het
Zfp91	A	G	19: 12,753,774 (GRCm39)		probably null	Het
Zw10	T	A	9: 48,979,983 (GRCm39)	F371L	probably damaging	Het

Other mutations in Dmrta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02154:Dmrta1	APN	4	89,580,150 (GRCm39)	missense	probably benign	0.04
IGL02572:Dmrta1	APN	4	89,579,795 (GRCm39)	missense	probably benign	0.01
IGL02875:Dmrta1	APN	4	89,579,985 (GRCm39)	missense	possibly damaging	0.70
IGL02883:Dmrta1	APN	4	89,577,011 (GRCm39)	missense	probably benign
R0097:Dmrta1	UTSW	4	89,577,109 (GRCm39)	missense	probably benign	0.08
R0097:Dmrta1	UTSW	4	89,577,109 (GRCm39)	missense	probably benign	0.08
R0394:Dmrta1	UTSW	4	89,580,276 (GRCm39)	missense	probably damaging	1.00
R2093:Dmrta1	UTSW	4	89,579,742 (GRCm39)	missense	probably benign
R2132:Dmrta1	UTSW	4	89,576,946 (GRCm39)	missense	probably damaging	1.00
R2133:Dmrta1	UTSW	4	89,576,946 (GRCm39)	missense	probably damaging	1.00
R2401:Dmrta1	UTSW	4	89,579,853 (GRCm39)	missense	probably benign	0.00
R3694:Dmrta1	UTSW	4	89,580,415 (GRCm39)	nonsense	probably null
R3695:Dmrta1	UTSW	4	89,580,415 (GRCm39)	nonsense	probably null
R3891:Dmrta1	UTSW	4	89,579,831 (GRCm39)	missense	possibly damaging	0.93
R3892:Dmrta1	UTSW	4	89,579,831 (GRCm39)	missense	possibly damaging	0.93
R3929:Dmrta1	UTSW	4	89,579,681 (GRCm39)	nonsense	probably null
R4620:Dmrta1	UTSW	4	89,577,021 (GRCm39)	missense	probably benign	0.05
R4982:Dmrta1	UTSW	4	89,576,801 (GRCm39)	missense	probably damaging	1.00
R5312:Dmrta1	UTSW	4	89,580,284 (GRCm39)	missense	probably damaging	0.99
R5437:Dmrta1	UTSW	4	89,579,993 (GRCm39)	missense	possibly damaging	0.71
R5637:Dmrta1	UTSW	4	89,577,068 (GRCm39)	missense	probably benign
R6185:Dmrta1	UTSW	4	89,580,005 (GRCm39)	missense	probably damaging	0.97
R6906:Dmrta1	UTSW	4	89,580,203 (GRCm39)	missense	probably benign	0.06
R7156:Dmrta1	UTSW	4	89,576,700 (GRCm39)	missense	probably damaging	0.99
R7201:Dmrta1	UTSW	4	89,580,408 (GRCm39)	nonsense	probably null
R7755:Dmrta1	UTSW	4	89,580,170 (GRCm39)	missense	probably benign	0.01
R7862:Dmrta1	UTSW	4	89,576,561 (GRCm39)	missense	probably benign	0.00
R7880:Dmrta1	UTSW	4	89,577,081 (GRCm39)	missense	possibly damaging	0.95
R8714:Dmrta1	UTSW	4	89,579,682 (GRCm39)	missense	probably benign
R8841:Dmrta1	UTSW	4	89,579,950 (GRCm39)	missense	probably benign	0.00
R9028:Dmrta1	UTSW	4	89,579,914 (GRCm39)	missense	probably damaging	0.96
Z1177:Dmrta1	UTSW	4	89,576,691 (GRCm39)	missense	probably benign	0.37
Z1177:Dmrta1	UTSW	4	89,576,645 (GRCm39)	missense	probably damaging	0.97
Z1177:Dmrta1	UTSW	4	89,576,735 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CTAAGGGTAATGTGACCGTGG -3'
(R):5'- GCTGCATTTTCCAAGTCTGC -3'

Sequencing Primer
(F):5'- GAAACAGGGCTTCATGTCATC -3'
(R):5'- TTCCAAGTCTGCGCGTG -3'

Posted On

2016-04-15