Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03081:Nr5a1'

417874

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nr5a1

Ensembl Gene

ENSMUSG00000026751

Gene Name

nuclear receptor subfamily 5, group A, member 1

Synonyms

ELP, Ad4BP, SF1, Ftzf1, SF-1, steroidogenic factor 1, adrenal 4-binding protein, Ftz-F1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03081

Quality Score

Status

Chromosome

Chromosomal Location

38692656-38714542 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38710532 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 41 (V41D)

Ref Sequence

ENSEMBL: ENSMUSP00000108504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028084] [ENSMUST00000112883]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028084
AA Change: V41D

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028084
Gene: ENSMUSG00000026751
AA Change: V41D

Domain	Start	End	E-Value	Type
ZnF_C4	10	81	2.41e-38	SMART
low complexity region	124	142	N/A	INTRINSIC
low complexity region	195	222	N/A	INTRINSIC
low complexity region	225	238	N/A	INTRINSIC
HOLI	268	431	3.54e-36	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112883
AA Change: V41D

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108504
Gene: ENSMUSG00000026751
AA Change: V41D

Domain	Start	End	E-Value	Type
ZnF_C4	10	81	2.41e-38	SMART
low complexity region	124	142	N/A	INTRINSIC
low complexity region	195	222	N/A	INTRINSIC
low complexity region	225	238	N/A	INTRINSIC
HOLI	268	431	3.54e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149690

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit agenesis of the adrenal glands and gonads, defects of the ventromedial hypothalamic nucleus, impaired pituitary gonadotroph function, and neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	C	A	19: 43,782,402		probably benign	Het
Acan	T	G	7: 79,098,543	S1021A	probably benign	Het
Adamts6	A	G	13: 104,444,956		probably benign	Het
Apc2	A	G	10: 80,312,252	K1018E	probably damaging	Het
Arhgef28	A	T	13: 98,029,373		probably benign	Het
Atp2b1	T	C	10: 98,994,813		probably benign	Het
Cct6b	A	T	11: 82,764,169	L20*	probably null	Het
Cd300ld2	G	A	11: 115,012,542		probably benign	Het
Cdc23	T	G	18: 34,636,704	K454T	probably damaging	Het
Cdh20	A	T	1: 104,941,257	I158F	probably damaging	Het
Cdk14	C	T	5: 4,949,527		probably benign	Het
Ces1d	C	A	8: 93,169,718		probably null	Het
Clec2i	A	T	6: 128,894,765	Y113F	probably damaging	Het
Dmpk	T	A	7: 19,087,533	S239T	probably damaging	Het
Dnah8	T	C	17: 30,686,373		probably benign	Het
Exoc2	A	G	13: 30,900,902	Y359H	probably benign	Het
Eya1	A	T	1: 14,183,191	F520L	possibly damaging	Het
Fgfr1op2	A	T	6: 146,597,319	I217F	probably damaging	Het
Gm12258	A	G	11: 58,858,259	N87D	probably benign	Het
Gp6	A	G	7: 4,371,648	S225P	probably benign	Het
Hdac7	T	C	15: 97,798,306	Y619C	probably damaging	Het
Lars	A	G	18: 42,210,091	I1087T	probably benign	Het
Lrrc37a	G	T	11: 103,456,595	H3091Q	unknown	Het
Mcm3ap	T	C	10: 76,470,316	S88P	possibly damaging	Het
Mrps23	G	A	11: 88,210,217	R117Q	probably benign	Het
Nbea	T	C	3: 56,079,918	S384G	probably damaging	Het
Ndufs4	A	T	13: 114,307,837	I135N	possibly damaging	Het
Noto	T	C	6: 85,424,109	F40S	probably damaging	Het
Olfr914	C	T	9: 38,606,870	A135V	probably benign	Het
Papola	T	A	12: 105,818,855	H415Q	probably damaging	Het
Pcm1	C	T	8: 41,275,060	T557I	probably damaging	Het
Pde11a	A	T	2: 76,075,930		probably benign	Het
Pls1	A	G	9: 95,773,643	V352A	probably damaging	Het
Pygm	T	C	19: 6,388,821	S226P	possibly damaging	Het
Rnf17	T	A	14: 56,434,371	S273R	probably benign	Het
Scamp2	T	C	9: 57,587,127	V261A	possibly damaging	Het
Slc7a12	T	A	3: 14,481,255	F153L	probably benign	Het
Smchd1	A	T	17: 71,360,191	D1735E	probably damaging	Het
Stk40	A	G	4: 126,123,714		probably null	Het
Tas2r124	C	T	6: 132,755,534	L269F	possibly damaging	Het
Tmem260	A	C	14: 48,496,293	I216L	probably benign	Het
Ubr1	C	A	2: 120,961,156	A116S	possibly damaging	Het
Unc13a	T	C	8: 71,649,549	K991R	probably damaging	Het
Vmn2r66	T	C	7: 85,007,930	Y89C	probably benign	Het
Vps13b	A	C	15: 35,875,820	I2784L	probably damaging	Het
Zbtb26	T	A	2: 37,436,600	K141N	possibly damaging	Het
Zranb1	T	A	7: 132,950,397	M259K	probably damaging	Het

Other mutations in Nr5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Nr5a1	APN	2	38708341	missense	probably benign	0.00
IGL02869:Nr5a1	APN	2	38708129	missense	probably benign
R0053:Nr5a1	UTSW	2	38694166	missense	probably damaging	0.98
R1437:Nr5a1	UTSW	2	38710673	missense	probably benign
R1753:Nr5a1	UTSW	2	38708419	missense	possibly damaging	0.84
R1921:Nr5a1	UTSW	2	38694096	missense	probably damaging	1.00
R3500:Nr5a1	UTSW	2	38707940	nonsense	probably null
R4393:Nr5a1	UTSW	2	38694219	missense	probably damaging	1.00
R5417:Nr5a1	UTSW	2	38708086	missense	possibly damaging	0.95
R5821:Nr5a1	UTSW	2	38708499	missense	probably damaging	0.96
R5936:Nr5a1	UTSW	2	38701778	intron	probably benign
R6088:Nr5a1	UTSW	2	38701995	missense	probably benign
R6443:Nr5a1	UTSW	2	38710430	missense	probably damaging	0.99
R7099:Nr5a1	UTSW	2	38694136	missense	probably damaging	1.00
Z1177:Nr5a1	UTSW	2	38710673	missense	probably benign	0.01

Posted On

2016-08-02