Mutagenetix > Incidental Mutation

Incidental Mutation 'R1437:Nr5a1'

161270

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

039492-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1437 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38582668-38604554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38600685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 29 (T29S)

Ref Sequence

ENSEMBL: ENSMUSP00000108504 (fasta)

Gene Model

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

AlphaFold

P33242

Predicted Effect

probably benign
Transcript: ENSMUST00000028084
AA Change: T29S

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

SMART Domains

Protein: ENSMUSP00000028084
Gene: ENSMUSG00000026751
AA Change: T29S

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 benign
Transcript: ENSMUST00000112883
AA Change: T29S

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

SMART Domains

Protein: ENSMUSP00000108504
Gene: ENSMUSG00000026751
AA Change: T29S

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

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,871,436 (GRCm39)	V330E	possibly damaging	Het
Abcb5	A	G	12: 118,838,497 (GRCm39)	S1022P	probably damaging	Het
Abcc8	A	G	7: 45,829,237 (GRCm39)	I46T	probably damaging	Het
Add3	A	G	19: 53,222,109 (GRCm39)	R275G	probably damaging	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Arhgef4	A	G	1: 34,763,026 (GRCm39)	T761A	unknown	Het
Asap1	A	T	15: 63,991,956 (GRCm39)	L751Q	probably damaging	Het
Atg2a	C	A	19: 6,300,646 (GRCm39)	P741H	probably damaging	Het
Atxn10	T	C	15: 85,243,675 (GRCm39)	I46T	possibly damaging	Het
BC049715	C	A	6: 136,817,090 (GRCm39)	A110E	probably damaging	Het
Bltp1	C	A	3: 36,996,578 (GRCm39)	H1097N	possibly damaging	Het
Btbd7	T	A	12: 102,754,349 (GRCm39)	T806S	possibly damaging	Het
Cdk4	C	A	10: 126,900,558 (GRCm39)	P108H	probably damaging	Het
Cep290	A	G	10: 100,407,963 (GRCm39)	T2391A	probably benign	Het
Col6a3	G	T	1: 90,729,098 (GRCm39)	A1281E	probably damaging	Het
Cpa5	A	T	6: 30,624,654 (GRCm39)	I165F	probably damaging	Het
Ctdp1	G	T	18: 80,493,428 (GRCm39)	Q356K	probably benign	Het
Ddx21	A	G	10: 62,434,369 (GRCm39)	M130T	unknown	Het
Epha5	T	G	5: 84,381,555 (GRCm39)	D432A	probably damaging	Het
Esr1	ACGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACGCCGCCGCCGCCGCCGCCGCCGCC	10: 4,662,571 (GRCm39)		probably benign	Het
Fads2	A	T	19: 10,069,193 (GRCm39)	L77Q	probably benign	Het
Fbn2	A	T	18: 58,186,731 (GRCm39)	H1723Q	possibly damaging	Het
Fbxo42	C	T	4: 140,895,165 (GRCm39)	H43Y	probably benign	Het
Fry	A	G	5: 150,233,890 (GRCm39)	T121A	possibly damaging	Het
Gpr156	T	G	16: 37,808,904 (GRCm39)	S209A	probably damaging	Het
Hey2	T	C	10: 30,709,845 (GRCm39)	T303A	probably benign	Het
Hivep1	T	A	13: 42,310,616 (GRCm39)	M952K	probably benign	Het
Hydin	C	T	8: 111,308,617 (GRCm39)	Q3968*	probably null	Het
Jup	T	C	11: 100,274,402 (GRCm39)	E96G	probably benign	Het
Kcnn1	A	G	8: 71,297,195 (GRCm39)	I504T	probably benign	Het
Klk1b9	T	C	7: 43,629,114 (GRCm39)	V174A	probably damaging	Het
Lama3	G	C	18: 12,682,284 (GRCm39)	M1083I	possibly damaging	Het
Lcmt2	A	G	2: 120,969,377 (GRCm39)	S569P	probably benign	Het
Lrfn2	T	C	17: 49,378,253 (GRCm39)	S445P	probably damaging	Het
Lrp3	C	A	7: 34,912,595 (GRCm39)	G31W	probably damaging	Het
Lrrc8b	T	C	5: 105,629,568 (GRCm39)	L638P	probably damaging	Het
Mief2	C	T	11: 60,621,769 (GRCm39)	T113M	probably benign	Het
Mrps2	T	C	2: 28,358,899 (GRCm39)	F76S	probably damaging	Het
Naca	A	G	10: 127,878,048 (GRCm39)		probably benign	Het
Ndst4	C	A	3: 125,355,099 (GRCm39)	R336S	probably damaging	Het
Nr1i3	CACTCAACACTAC	CAC	1: 171,044,710 (GRCm39)		probably null	Het
Or5ak23	T	C	2: 85,245,218 (GRCm39)	I2V	probably benign	Het
Or5as1	C	T	2: 86,980,115 (GRCm39)	V297M	possibly damaging	Het
Pald1	A	G	10: 61,177,064 (GRCm39)	F662S	possibly damaging	Het
Pdcd4	G	T	19: 53,897,674 (GRCm39)	A59S	probably damaging	Het
Pde4a	T	C	9: 21,103,888 (GRCm39)		probably null	Het
Pkd1	T	A	17: 24,814,106 (GRCm39)	S4159T	probably damaging	Het
Plaat1	C	A	16: 29,046,922 (GRCm39)	A147E	possibly damaging	Het
Plch1	C	A	3: 63,604,954 (GRCm39)	R1641L	probably benign	Het
Plec	G	T	15: 76,073,481 (GRCm39)	P308Q	probably damaging	Het
Pnkp	A	G	7: 44,509,826 (GRCm39)	S262G	possibly damaging	Het
Pou2f1	A	G	1: 165,719,399 (GRCm39)	V504A	probably damaging	Het
Prepl	G	A	17: 85,395,785 (GRCm39)	R66W	probably damaging	Het
Rasgrf2	T	C	13: 92,167,396 (GRCm39)	K226E	probably damaging	Het
Ror1	T	A	4: 100,269,306 (GRCm39)	F381L	probably benign	Het
Sbsn	C	T	7: 30,452,478 (GRCm39)	Q498*	probably null	Het
Scgb2b19	T	C	7: 32,977,980 (GRCm39)	I106V	probably benign	Het
Sf3a2	G	A	10: 80,640,040 (GRCm39)		probably benign	Het
Sis	T	C	3: 72,841,475 (GRCm39)	H780R	probably damaging	Het
Slc28a3	G	T	13: 58,706,389 (GRCm39)	C617*	probably null	Het
Slc44a1	T	A	4: 53,561,006 (GRCm39)	V574D	probably damaging	Het
Slc8a3	T	A	12: 81,362,760 (GRCm39)	T20S	probably damaging	Het
Stt3b	T	A	9: 115,083,995 (GRCm39)	I394F	probably damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ugt2b35	T	C	5: 87,148,890 (GRCm39)	V47A	probably benign	Het
Vmn2r114	A	G	17: 23,510,185 (GRCm39)	F765S	probably damaging	Het
Vps50	C	T	6: 3,517,852 (GRCm39)	Q97*	probably null	Het
Vsig10	A	G	5: 117,489,635 (GRCm39)	Q467R	probably damaging	Het
Wdsub1	T	G	2: 59,708,477 (GRCm39)	Y11S	probably damaging	Het
Zbtb11	T	G	16: 55,811,983 (GRCm39)		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
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
R8125:Nr5a1	UTSW	2	38,591,993 (GRCm39)	missense	probably damaging	0.97
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'- TCTGGACTGTGCGCTTGAAGAAG -3'
(R):5'- CAATGTCGTTGGCACCGCATTC -3'

Sequencing Primer
(F):5'- TTGAAGAAGCCCTGCTCCAG -3'
(R):5'- ATGCATCGAATCCGAGGGTC -3'

Posted On

2014-03-14