Incidental Mutation 'R5417:Nr5a1'
ID 427775
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5417 (G1)
Quality Score 202
Status Not validated
Chromosome 2
Chromosomal Location 38582668-38604554 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38598098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 233 (Q233L)
Ref Sequence ENSEMBL: ENSMUSP00000108504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028084] [ENSMUST00000112883]
AlphaFold P33242
Predicted Effect possibly damaging
Transcript: ENSMUST00000028084
AA Change: Q233L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028084
Gene: ENSMUSG00000026751
AA Change: Q233L

DomainStartEndE-ValueType
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: Q233L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108504
Gene: ENSMUSG00000026751
AA Change: Q233L

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 A G 15: 76,619,301 (GRCm39) V761A possibly damaging Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cfap65 T C 1: 74,964,259 (GRCm39) E563G probably damaging Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Col17a1 C A 19: 47,650,829 (GRCm39) G732C probably damaging Het
Cped1 A G 6: 22,233,579 (GRCm39) I812V probably null Het
Dennd1c CCGCCCCTCGCTGACAGC CC 17: 57,373,755 (GRCm39) probably null Het
Dgkg A T 16: 22,407,081 (GRCm39) M168K possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dolpp1 T C 2: 30,286,249 (GRCm39) L18P probably damaging Het
Eif3e A T 15: 43,128,917 (GRCm39) D234E probably benign Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
Fbxw10 G A 11: 62,767,990 (GRCm39) R942Q possibly damaging Het
Flvcr2 T G 12: 85,793,965 (GRCm39) F114V probably damaging Het
Gm14443 A T 2: 175,011,796 (GRCm39) C217S probably damaging Het
Gphb5 A T 12: 75,459,746 (GRCm39) V83E possibly damaging Het
Gpsm1 T C 2: 26,214,045 (GRCm39) probably null Het
Grik4 A G 9: 42,582,544 (GRCm39) F134S probably benign Het
Ibsp G A 5: 104,458,335 (GRCm39) E291K possibly damaging Het
Igfals T G 17: 25,099,290 (GRCm39) L127R probably damaging Het
Igsf9b CGGCCCCGGCCCAG CGGCCCCGGCCCAGGCCCCGGCCCAG 9: 27,245,572 (GRCm39) probably benign Het
Iqcf3 T A 9: 106,431,413 (GRCm39) D63V probably damaging Het
Klc4 A G 17: 46,942,957 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mapk8ip2 C A 15: 89,341,642 (GRCm39) D284E probably benign Het
Muc5b A T 7: 141,411,781 (GRCm39) T1576S unknown Het
Nlrp3 G A 11: 59,439,889 (GRCm39) G489S probably damaging Het
Nusap1 G A 2: 119,477,624 (GRCm39) V345I probably damaging Het
Or10q1 A G 19: 13,727,217 (GRCm39) H249R probably benign Het
Or4k51 A G 2: 111,585,265 (GRCm39) T224A possibly damaging Het
Or51aa2 A T 7: 103,187,970 (GRCm39) V157E possibly damaging Het
Oxr1 A G 15: 41,683,767 (GRCm39) T378A probably benign Het
Pcdhb12 T C 18: 37,569,087 (GRCm39) F78L probably benign Het
Pgm2l1 A T 7: 99,921,583 (GRCm39) I605L probably benign Het
Pik3c2g A G 6: 139,682,669 (GRCm39) I17V probably benign Het
Prss39 A G 1: 34,539,209 (GRCm39) S150G probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scg3 T A 9: 75,576,538 (GRCm39) Y279F probably benign Het
Skic2 C T 17: 35,065,574 (GRCm39) V327I probably damaging Het
Srfbp1 T C 18: 52,621,697 (GRCm39) C253R probably benign Het
Tcirg1 C T 19: 3,953,509 (GRCm39) probably null Het
Trim37 A G 11: 87,057,505 (GRCm39) Y313C probably damaging Het
Ttll9 A T 2: 152,844,912 (GRCm39) M427L probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubgcp5 A G 7: 55,475,409 (GRCm39) R932G possibly damaging Het
Other mutations in Nr5a1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTAGTAGCTAGAGCCAGGGAC -3'
(R):5'- ATCTCTACCCATGGCTGTGC -3'

Sequencing Primer
(F):5'- GGTACCCACCTCCAGCTC -3'
(R):5'- CTGTGCCTGGTCCCCAC -3'
Posted On 2016-09-01