Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02883:Dmrta1'

362875

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

89679436-89694772 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89688774 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 156 (S156P)

Ref Sequence

ENSEMBL: ENSMUSP00000057488 (fasta)

Gene Model

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

AlphaFold

Q8CFG4

Predicted Effect

probably benign
Transcript: ENSMUST00000052478
AA Change: S156P

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

SMART Domains

Protein: ENSMUSP00000057488
Gene: ENSMUSG00000043753
AA Change: S156P

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,972	S186R	possibly damaging	Het
Acap2	A	G	16: 31,096,345		probably benign	Het
Cacna1h	G	T	17: 25,380,532	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,707,497	S133G	probably damaging	Het
Cep295nl	A	T	11: 118,333,909	S36R	probably benign	Het
Crispld1	A	G	1: 17,746,789	N190S	possibly damaging	Het
Crtam	A	G	9: 40,994,501	V44A	probably benign	Het
Crtc1	C	T	8: 70,406,125	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,669,351	N254S	probably benign	Het
Eno2	A	C	6: 124,766,209	V188G	probably damaging	Het
Fam20a	A	T	11: 109,675,127	I427N	probably damaging	Het
Fat2	T	C	11: 55,256,618	K3933E	probably benign	Het
Gm15448	A	G	7: 3,822,180	S488P	possibly damaging	Het
Igkv8-30	T	C	6: 70,117,617	M1V	probably null	Het
Ist1	G	A	8: 109,683,668		probably benign	Het
Kank4	T	C	4: 98,773,453	E765G	possibly damaging	Het
Kat14	T	C	2: 144,393,529	L92S	probably damaging	Het
Kcnu1	G	A	8: 25,849,827	V58I	probably benign	Het
Lrba	T	A	3: 86,445,413	I1956N	probably damaging	Het
Lrba	T	A	3: 86,354,206	V1489E	probably damaging	Het
Mdn1	G	A	4: 32,763,199	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,586,709	G122*	probably null	Het
Nme3	T	C	17: 24,896,906	Y78H	probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Ppp2r5c	T	G	12: 110,522,563	V56G	possibly damaging	Het
Pramef25	T	C	4: 143,949,848	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,327,348	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,906,998	V344A	probably damaging	Het
Selp	G	A	1: 164,130,102	A267T	probably benign	Het
Sf3a1	T	A	11: 4,179,192	W718R	probably damaging	Het
Taar9	T	C	10: 24,109,480	N19D	probably benign	Het
Tas2r113	T	G	6: 132,893,419	S137A	probably damaging	Het
Traf4	A	T	11: 78,161,621	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,480,642	T164S	probably benign	Het
Uggt1	A	T	1: 36,177,615	N96K	probably benign	Het
Uqcc1	T	A	2: 155,911,829	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,349,515	K48R	probably benign	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
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
R5637:Dmrta1	UTSW	4	89688831	missense	probably benign
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
R7862:Dmrta1	UTSW	4	89688324	missense	probably benign	0.00
R7880:Dmrta1	UTSW	4	89688844	missense	possibly damaging	0.95
R8714:Dmrta1	UTSW	4	89691445	missense	probably benign
R8841:Dmrta1	UTSW	4	89691713	missense	probably benign	0.00
R9028:Dmrta1	UTSW	4	89691677	missense	probably damaging	0.96
Z1177:Dmrta1	UTSW	4	89688408	missense	probably damaging	0.97
Z1177:Dmrta1	UTSW	4	89688454	missense	probably benign	0.37
Z1177:Dmrta1	UTSW	4	89688498	missense	probably benign	0.16

Posted On

2015-12-18