Mutagenetix > Incidental Mutation

Incidental Mutation 'R7755:Dmrta1'

597492

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

045811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7755 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89576435-89583003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89580170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 377 (S377P)

Ref Sequence

ENSEMBL: ENSMUSP00000057488 (fasta)

Gene Model

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

AlphaFold

Q8CFG4

Predicted Effect

probably benign
Transcript: ENSMUST00000052478
AA Change: S377P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000057488
Gene: ENSMUSG00000043753
AA Change: S377P

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

Meta Mutation Damage Score

0.0989

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (52/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,236,187 (GRCm39)	M1179I	probably benign	Het
4930402F06Rik	T	C	2: 35,266,349 (GRCm39)	Y107C	probably damaging	Het
Aff4	T	C	11: 53,289,206 (GRCm39)	S452P	probably damaging	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Begain	A	G	12: 109,018,802 (GRCm39)	L215P	probably benign	Het
Carf	T	A	1: 60,187,214 (GRCm39)	S606T	probably benign	Het
Cngb3	A	T	4: 19,461,684 (GRCm39)	T522S	probably benign	Het
Ctsll3	A	T	13: 60,948,219 (GRCm39)	F153I	probably damaging	Het
Cubn	G	A	2: 13,284,889 (GRCm39)	T3509I	probably benign	Het
Dnmbp	G	A	19: 43,838,525 (GRCm39)	A659V	probably benign	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Dync2h1	T	C	9: 7,015,490 (GRCm39)	D3598G	probably benign	Het
Elp1	T	C	4: 56,774,552 (GRCm39)	N779S	possibly damaging	Het
Flot2	T	C	11: 77,940,339 (GRCm39)	F29L	probably benign	Het
Hectd1	A	T	12: 51,849,003 (GRCm39)	I367K	possibly damaging	Het
Ivl	T	A	3: 92,479,317 (GRCm39)	K249N	probably damaging	Het
Khnyn	A	G	14: 56,125,425 (GRCm39)	T503A	probably damaging	Het
Mbd4	T	A	6: 115,821,546 (GRCm39)	I490F	probably damaging	Het
Mlip	T	C	9: 77,136,838 (GRCm39)	T690A	probably benign	Het
Mmp1a	T	A	9: 7,467,005 (GRCm39)	D227E	possibly damaging	Het
Mrgprf	T	C	7: 144,862,380 (GRCm39)	L314P	probably damaging	Het
Ndufb9	T	G	15: 58,808,255 (GRCm39)	Y80*	probably null	Het
Neto2	C	T	8: 86,396,285 (GRCm39)	R155H	probably damaging	Het
Npat	T	A	9: 53,470,470 (GRCm39)	N365K	possibly damaging	Het
Nsl1	G	A	1: 190,795,380 (GRCm39)	V49M	probably benign	Het
Nudt21	T	A	8: 94,749,493 (GRCm39)	Y191F	probably benign	Het
Or2w25	A	G	11: 59,504,467 (GRCm39)	R226G	probably damaging	Het
Or8b54	T	G	9: 38,687,073 (GRCm39)	I174S	possibly damaging	Het
Pcdh18	T	C	3: 49,709,278 (GRCm39)	Y679C	possibly damaging	Het
Pkd1l3	A	G	8: 110,356,798 (GRCm39)	D741G	possibly damaging	Het
Pkhd1	T	C	1: 20,617,717 (GRCm39)	D956G	probably damaging	Het
Poglut2	T	C	1: 44,157,733 (GRCm39)		probably benign	Het
Pparg	C	T	6: 115,440,067 (GRCm39)	P214S	probably damaging	Het
Ppargc1a	T	A	5: 51,630,883 (GRCm39)	Y582F	unknown	Het
Prdm9	C	T	17: 15,765,226 (GRCm39)	C518Y	probably damaging	Het
Rangrf	T	A	11: 68,864,540 (GRCm39)	E2V	probably damaging	Het
Rpl19	T	C	11: 97,919,193 (GRCm39)	I45T	probably benign	Het
Rtn4rl2	T	C	2: 84,702,807 (GRCm39)	D255G	possibly damaging	Het
Shld2	T	C	14: 33,970,847 (GRCm39)	K627E	probably damaging	Het
Sirt3	T	C	7: 140,457,963 (GRCm39)	D62G		Het
Slc22a30	T	C	19: 8,314,133 (GRCm39)	T518A	probably damaging	Het
Slc40a1	T	C	1: 45,950,466 (GRCm39)	T329A	probably damaging	Het
Slc6a17	C	T	3: 107,381,671 (GRCm39)	G470D	probably damaging	Het
Syne2	A	T	12: 76,044,181 (GRCm39)	I3923L	probably benign	Het
Tiam2	C	T	17: 3,471,591 (GRCm39)	S411L	probably benign	Het
Ticam1	A	G	17: 56,577,182 (GRCm39)	C638R	unknown	Het
Tnrc6c	A	G	11: 117,648,912 (GRCm39)	T1528A	probably benign	Het
Ufl1	A	G	4: 25,262,274 (GRCm39)	I404T	probably benign	Het
Usp43	A	T	11: 67,782,294 (GRCm39)	S375T	possibly damaging	Het
Vmn2r88	C	G	14: 51,650,503 (GRCm39)	A72G	probably benign	Het
Vmn2r91	A	T	17: 18,330,311 (GRCm39)	I532F	possibly damaging	Het
Vmn2r95	T	C	17: 18,644,367 (GRCm39)	M1T	probably null	Het
Xirp2	T	C	2: 67,345,526 (GRCm39)	V2589A	probably benign	Het
Zfp128	C	T	7: 12,624,240 (GRCm39)	Q203*	probably null	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
R4927:Dmrta1	UTSW	4	89,579,985 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTCTCGGAATTCTTACCAGG -3'
(R):5'- AGGCAATGCTGGAACCAGTC -3'

Sequencing Primer
(F):5'- CAGGATCTTTCCAGGTTACAAGC -3'
(R):5'- ACCAGTCCAGGTGTTAGGTAG -3'

Posted On

2019-11-26