Mutagenetix > Incidental Mutation

Incidental Mutation 'R8125:Nr5a1'

631683

Institutional Source

Beutler Lab

Gene Symbol

Nr5a1

Ensembl Gene

ENSMUSG00000026751

Gene Name

nuclear receptor subfamily 5, group A, member 1

Synonyms

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

MMRRC Submission

067554-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38582668-38604554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38591993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 327 (V327I)

Ref Sequence

ENSEMBL: ENSMUSP00000028084 (fasta)

Gene Model

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

AlphaFold

P33242

PDB Structure

Mouse SF-1 LBD [X-RAY DIFFRACTION]
Structure of the steroidogenic factor-1 ligand binding domain bound to phospholipid and a SHP peptide motif [X-RAY DIFFRACTION]
Solution Structure of Steroidogenic Factor 1 DNA Binding Domain Bound to its Target Sequence in the Inhibin alpha-subunit Promoter [SOLUTION NMR]
SF-1 LBD bound by phosphatidylcholine [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028084
AA Change: V327I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028084
Gene: ENSMUSG00000026751
AA Change: V327I

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

probably damaging
Transcript: ENSMUST00000112883
AA Change: V327I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108504
Gene: ENSMUSG00000026751
AA Change: V327I

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 97.0%

Validation Efficiency

100% (72/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	C	A	18: 24,608,709 (GRCm39)	T143K	probably benign	Het
4933434E20Rik	T	A	3: 89,972,818 (GRCm39)	V74D	possibly damaging	Het
Acot11	C	T	4: 106,617,277 (GRCm39)		probably null	Het
Adam20	A	T	8: 41,247,973 (GRCm39)	I28L	probably benign	Het
Adamtsl3	A	G	7: 82,099,541 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahnak	C	T	19: 8,989,240 (GRCm39)	A3508V	possibly damaging	Het
Arhgap20	T	C	9: 51,738,209 (GRCm39)	I235T	probably damaging	Het
B4galnt3	T	C	6: 120,201,554 (GRCm39)	T164A	probably damaging	Het
Brip1	A	G	11: 86,077,817 (GRCm39)	S204P	possibly damaging	Het
Ccdc185	C	A	1: 182,574,835 (GRCm39)	S618I	probably benign	Het
Ckap5	T	A	2: 91,406,614 (GRCm39)	I805K	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cmtm2a	A	T	8: 105,019,343 (GRCm39)	I82N	probably damaging	Het
Corin	T	A	5: 72,515,806 (GRCm39)	H416L	probably damaging	Het
Csnk2a2	G	A	8: 96,182,575 (GRCm39)	P296L		Het
Cygb	T	A	11: 116,540,116 (GRCm39)	T178S	probably benign	Het
Dchs1	T	C	7: 105,414,089 (GRCm39)	T909A	possibly damaging	Het
Ddx60	C	T	8: 62,436,945 (GRCm39)	A965V	probably benign	Het
Dmbt1	A	G	7: 130,700,953 (GRCm39)	T1218A	unknown	Het
Ebf1	T	C	11: 44,863,742 (GRCm39)	I364T	probably damaging	Het
Efcab10	C	A	12: 33,448,313 (GRCm39)	R49S	probably damaging	Het
Eif2b1	G	A	5: 124,717,162 (GRCm39)		probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Gm49358	T	A	10: 86,656,857 (GRCm39)	F273Y		Het
Gria2	T	A	3: 80,614,550 (GRCm39)	I497F	possibly damaging	Het
Ipo9	T	C	1: 135,331,078 (GRCm39)	T426A	probably benign	Het
Klhl11	T	C	11: 100,354,811 (GRCm39)	I337V	probably benign	Het
Krtap19-5	A	T	16: 88,693,236 (GRCm39)	Y25*	probably null	Het
Lamb2	T	G	9: 108,364,722 (GRCm39)	S1159A	probably benign	Het
Mpig6b	A	T	17: 35,284,328 (GRCm39)	L154Q	probably damaging	Het
Mrpl28	T	C	17: 26,343,594 (GRCm39)	I118T	probably damaging	Het
Msh3	A	T	13: 92,435,690 (GRCm39)	N536K	probably benign	Het
Mtcl3	T	C	10: 29,072,894 (GRCm39)	S729P	probably damaging	Het
Myh8	A	G	11: 67,190,598 (GRCm39)	K1308E	possibly damaging	Het
Nav3	C	A	10: 109,688,520 (GRCm39)	G586W	probably damaging	Het
Ncoa7	T	C	10: 30,570,087 (GRCm39)	K291E	possibly damaging	Het
Nup85	TACAAGACAA	TACAA	11: 115,469,063 (GRCm39)		probably null	Het
Or1o4	A	T	17: 37,590,935 (GRCm39)	H125Q	probably benign	Het
Or4f4-ps1	A	T	2: 111,330,332 (GRCm39)	D245V	possibly damaging	Het
Or4g17	T	C	2: 111,210,086 (GRCm39)	V247A	probably damaging	Het
Pard3b	T	C	1: 61,807,143 (GRCm39)	Y53H	probably damaging	Het
Pcyox1l	G	A	18: 61,840,576 (GRCm39)	P26L	unknown	Het
Pdzrn4	A	G	15: 92,641,476 (GRCm39)	S391G	probably damaging	Het
Pfn4	T	A	12: 4,825,487 (GRCm39)	M108K	probably damaging	Het
Pibf1	C	T	14: 99,416,803 (GRCm39)	Q459*	probably null	Het
Pkd1l1	C	T	11: 8,897,241 (GRCm39)	C556Y	probably damaging	Het
Plin1	A	G	7: 79,379,599 (GRCm39)	F84L	possibly damaging	Het
Rasa3	A	G	8: 13,627,801 (GRCm39)		probably null	Het
Sdc1	G	A	12: 8,840,663 (GRCm39)	V143I	probably benign	Het
Skic3	T	C	13: 76,278,446 (GRCm39)		probably null	Het
Skor2	C	A	18: 76,947,373 (GRCm39)	A365E	unknown	Het
Slc16a7	A	G	10: 125,164,202 (GRCm39)		probably null	Het
Slc25a31	T	A	3: 40,663,573 (GRCm39)	V51E	probably damaging	Het
Slc6a6	C	A	6: 91,703,087 (GRCm39)	F153L	probably damaging	Het
Snx7	T	A	3: 117,630,894 (GRCm39)	K238M	probably damaging	Het
Spata3	C	T	1: 85,952,075 (GRCm39)	R110C	unknown	Het
Spata31f3	A	G	4: 42,873,051 (GRCm39)	L80P	probably damaging	Het
Sphkap	T	G	1: 83,241,303 (GRCm39)	Q1587P	probably damaging	Het
Tcte1	T	C	17: 45,850,618 (GRCm39)	I298T	possibly damaging	Het
Tmem247	A	G	17: 87,229,795 (GRCm39)	Y120C		Het
Togaram2	C	G	17: 72,023,489 (GRCm39)	L802V	probably benign	Het
Trim32	T	C	4: 65,532,199 (GRCm39)	V252A	probably benign	Het
Ube2q2l	T	G	6: 136,378,184 (GRCm39)	R215S	possibly damaging	Het
Vat1	T	C	11: 101,351,029 (GRCm39)	K404R	probably benign	Het
Xirp2	C	A	2: 67,342,379 (GRCm39)	T1540K	probably benign	Het
Zc2hc1c	C	T	12: 85,343,386 (GRCm39)	H508Y	probably damaging	Het
Zfp407	A	T	18: 84,579,310 (GRCm39)	M601K	probably damaging	Het
Zfp951	A	T	5: 104,963,169 (GRCm39)	Y132*	probably null	Het

Other mutations in Nr5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Nr5a1	APN	2	38,598,353 (GRCm39)	missense	probably benign	0.00
IGL02869:Nr5a1	APN	2	38,598,141 (GRCm39)	missense	probably benign
IGL03081:Nr5a1	APN	2	38,600,544 (GRCm39)	missense	possibly damaging	0.92
R0053:Nr5a1	UTSW	2	38,584,178 (GRCm39)	missense	probably damaging	0.98
R1437:Nr5a1	UTSW	2	38,600,685 (GRCm39)	missense	probably benign
R1753:Nr5a1	UTSW	2	38,598,431 (GRCm39)	missense	possibly damaging	0.84
R1921:Nr5a1	UTSW	2	38,584,108 (GRCm39)	missense	probably damaging	1.00
R3500:Nr5a1	UTSW	2	38,597,952 (GRCm39)	nonsense	probably null
R4393:Nr5a1	UTSW	2	38,584,231 (GRCm39)	missense	probably damaging	1.00
R5417:Nr5a1	UTSW	2	38,598,098 (GRCm39)	missense	possibly damaging	0.95
R5821:Nr5a1	UTSW	2	38,598,511 (GRCm39)	missense	probably damaging	0.96
R5936:Nr5a1	UTSW	2	38,591,790 (GRCm39)	intron	probably benign
R6088:Nr5a1	UTSW	2	38,592,007 (GRCm39)	missense	probably benign
R6443:Nr5a1	UTSW	2	38,600,442 (GRCm39)	missense	probably damaging	0.99
R7099:Nr5a1	UTSW	2	38,584,148 (GRCm39)	missense	probably damaging	1.00
R9058:Nr5a1	UTSW	2	38,584,034 (GRCm39)	missense	probably damaging	1.00
Z1177:Nr5a1	UTSW	2	38,600,685 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGGGAGATCCAATTCCACTG -3'
(R):5'- CTCCATCTGAGACTTTGAGCAG -3'

Sequencing Primer
(F):5'- GGGGAGATCCAATTCCACTGTTATC -3'
(R):5'- CATCTGAGACTTTGAGCAGAGAGTTG -3'

Posted On

2020-06-30