Mutagenetix > Incidental Mutations

Incidental Mutation 'R5637:Dmrta1'

440421

Institutional Source

Beutler Lab

Gene Symbol

Dmrta1

Ensembl Gene

ENSMUSG00000043753

Gene Name

doublesex and mab-3 related transcription factor like family A1

Synonyms

Dmrt4

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5637 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89679436-89694772 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89688831 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 175 (N175D)

Ref Sequence

ENSEMBL: ENSMUSP00000057488 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000052478
AA Change: N175D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057488
Gene: ENSMUSG00000043753
AA Change: N175D

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,152,852	N1267D	probably benign	Het
Acmsd	T	C	1: 127,766,313	F327L	probably damaging	Het
Adgrl3	C	A	5: 81,693,544	S824Y	probably damaging	Het
AF366264	A	T	8: 13,837,713	M126K	possibly damaging	Het
Arfip2	A	G	7: 105,637,163	M144T	probably damaging	Het
Arhgap32	A	G	9: 32,247,206	N179S	probably damaging	Het
Ash2l	T	C	8: 25,827,311	Y249C	probably damaging	Het
Ccndbp1	A	G	2: 121,011,684	T141A	probably benign	Het
Cd177	T	A	7: 24,756,323	H258L	probably benign	Het
Celsr3	T	C	9: 108,837,133	W1956R	probably damaging	Het
Cep295	T	C	9: 15,333,812		probably null	Het
Cngb1	T	C	8: 95,257,921	H420R	probably damaging	Het
Cobl	C	T	11: 12,296,531		probably benign	Het
Cobll1	T	C	2: 65,125,903	D337G	possibly damaging	Het
Dnah7b	G	T	1: 46,356,514	V3859L	possibly damaging	Het
Dnah7c	A	G	1: 46,760,361		probably null	Het
Dusp4	C	A	8: 34,817,297	H255Q	probably damaging	Het
Evx1	T	C	6: 52,315,766	V134A	possibly damaging	Het
F12	T	C	13: 55,422,415	K93E	possibly damaging	Het
Fam186a	A	C	15: 99,941,747	H2205Q	possibly damaging	Het
Frem2	A	G	3: 53,652,937	I1383T	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gpr158	A	G	2: 21,783,272	I575V	probably benign	Het
Hdc	A	G	2: 126,616,189	V71A	probably benign	Het
Helb	G	A	10: 120,105,448	T445M	probably benign	Het
Inppl1	A	T	7: 101,828,848	S652R	probably benign	Het
Itpripl1	T	C	2: 127,142,124	D26G	probably damaging	Het
Klc1	T	A	12: 111,774,408	L106H	probably damaging	Het
Klhl25	T	A	7: 75,865,792		probably null	Het
Krt6a	T	C	15: 101,692,279	D318G	probably benign	Het
Lrp2	T	C	2: 69,472,418	N2989S	probably damaging	Het
Lta4h	A	G	10: 93,468,869		probably null	Het
Man1c1	A	G	4: 134,591,424	S251P	probably damaging	Het
Mapre2	T	C	18: 23,753,862		probably benign	Het
Mfap3l	A	T	8: 60,656,787	I66F	probably damaging	Het
Mvk	A	G	5: 114,455,942	E286G	possibly damaging	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Olfr1275	T	A	2: 111,231,111	K227N	probably benign	Het
Olfr307	G	A	7: 86,335,604	T264I	probably benign	Het
Olfr867	A	T	9: 20,054,983	V160D	possibly damaging	Het
Pcdh9	A	G	14: 93,885,762	F991L	possibly damaging	Het
Pcdha9	T	C	18: 36,998,373	V165A	probably benign	Het
Pcsk6	A	G	7: 65,968,997	H437R	probably damaging	Het
Pfas	C	T	11: 68,993,323	V589M	probably damaging	Het
Prpf40a	A	G	2: 53,156,734	V288A	possibly damaging	Het
Rnf183	T	C	4: 62,428,150	D137G	probably benign	Het
Rsph6a	A	G	7: 19,054,895	S51G	probably benign	Het
Scap	G	A	9: 110,381,572	A991T	possibly damaging	Het
Sdk2	C	A	11: 113,833,179	V1222F	probably damaging	Het
Sdr16c6	T	A	4: 4,063,232	N181I	possibly damaging	Het
Serpinb7	A	T	1: 107,428,307	D20V	probably damaging	Het
Sh3bp2	C	A	5: 34,561,048	R531S	possibly damaging	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Sox2	A	G	3: 34,650,528	N38S	probably benign	Het
Spg7	C	A	8: 123,094,575	Q680K	possibly damaging	Het
Styk1	T	C	6: 131,300,418	E331G	possibly damaging	Het
Tkfc	G	A	19: 10,594,533	R380W	probably benign	Het
Trib3	A	G	2: 152,338,490	F261S	probably damaging	Het
Ubr1	T	A	2: 120,963,517	Q62L	possibly damaging	Het
Vmn2r54	T	C	7: 12,615,369	Y762C	probably benign	Het
Vmn2r97	T	A	17: 18,947,366	Y627*	probably null	Het
Zfp12	A	G	5: 143,245,696	K625E	probably damaging	Het
Zw10	T	C	9: 49,057,650	V38A	probably damaging	Het

Other mutations in Dmrta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02154:Dmrta1	APN	4	89691913	missense	probably benign	0.04
IGL02572:Dmrta1	APN	4	89691558	missense	probably benign	0.01
IGL02875:Dmrta1	APN	4	89691748	missense	possibly damaging	0.70
IGL02883:Dmrta1	APN	4	89688774	missense	probably benign
R0097:Dmrta1	UTSW	4	89688872	missense	probably benign	0.08
R0097:Dmrta1	UTSW	4	89688872	missense	probably benign	0.08
R0394:Dmrta1	UTSW	4	89692039	missense	probably damaging	1.00
R2093:Dmrta1	UTSW	4	89691505	missense	probably benign
R2132:Dmrta1	UTSW	4	89688709	missense	probably damaging	1.00
R2133:Dmrta1	UTSW	4	89688709	missense	probably damaging	1.00
R2401:Dmrta1	UTSW	4	89691616	missense	probably benign	0.00
R3694:Dmrta1	UTSW	4	89692178	nonsense	probably null
R3695:Dmrta1	UTSW	4	89692178	nonsense	probably null
R3891:Dmrta1	UTSW	4	89691594	missense	possibly damaging	0.93
R3892:Dmrta1	UTSW	4	89691594	missense	possibly damaging	0.93
R3929:Dmrta1	UTSW	4	89691444	nonsense	probably null
R4620:Dmrta1	UTSW	4	89688784	missense	probably benign	0.05
R4927:Dmrta1	UTSW	4	89691748	missense	probably damaging	1.00
R4982:Dmrta1	UTSW	4	89688564	missense	probably damaging	1.00
R5312:Dmrta1	UTSW	4	89692047	missense	probably damaging	0.99
R5437:Dmrta1	UTSW	4	89691756	missense	possibly damaging	0.71
R6185:Dmrta1	UTSW	4	89691768	missense	probably damaging	0.97
R6906:Dmrta1	UTSW	4	89691966	missense	probably benign	0.06
R7156:Dmrta1	UTSW	4	89688463	missense	probably damaging	0.99
R7201:Dmrta1	UTSW	4	89692171	nonsense	probably null
R7755:Dmrta1	UTSW	4	89691933	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CGATTACCTCACGGTCGTAG -3'
(R):5'- CCACTCTTAAGGAGCTGCTG -3'

Sequencing Primer
(F):5'- AAGTGCACCCTGATCGC -3'
(R):5'- GCTCGTTTCTACACATTCTTGCAG -3'

Posted On

2016-11-08