Incidental Mutation 'IGL03081:Nr5a1'
ID 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 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 # IGL03081
Quality Score
Status
Chromosome 2
Chromosomal Location 38582668-38604554 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38600544 bp (GRCm39)
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]
AlphaFold P33242
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

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: V41D

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108504
Gene: ENSMUSG00000026751
AA Change: V41D

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 C A 19: 43,770,841 (GRCm39) probably benign Het
Acan T G 7: 78,748,291 (GRCm39) S1021A probably benign Het
Adamts6 A G 13: 104,581,464 (GRCm39) probably benign Het
Apc2 A G 10: 80,148,086 (GRCm39) K1018E probably damaging Het
Arhgef28 A T 13: 98,165,881 (GRCm39) probably benign Het
Atp2b1 T C 10: 98,830,675 (GRCm39) probably benign Het
Cct6b A T 11: 82,654,995 (GRCm39) L20* probably null Het
Cd300ld2 G A 11: 114,903,368 (GRCm39) probably benign Het
Cdc23 T G 18: 34,769,757 (GRCm39) K454T probably damaging Het
Cdh20 A T 1: 104,868,982 (GRCm39) I158F probably damaging Het
Cdk14 C T 5: 4,999,527 (GRCm39) probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clec2i A T 6: 128,871,728 (GRCm39) Y113F probably damaging Het
Dmpk T A 7: 18,821,458 (GRCm39) S239T probably damaging Het
Dnah8 T C 17: 30,905,347 (GRCm39) probably benign Het
Exoc2 A G 13: 31,084,885 (GRCm39) Y359H probably benign Het
Eya1 A T 1: 14,253,415 (GRCm39) F520L possibly damaging Het
Fgfr1op2 A T 6: 146,498,817 (GRCm39) I217F probably damaging Het
Gm12258 A G 11: 58,749,085 (GRCm39) N87D probably benign Het
Gp6 A G 7: 4,374,647 (GRCm39) S225P probably benign Het
Hdac7 T C 15: 97,696,187 (GRCm39) Y619C probably damaging Het
Lars1 A G 18: 42,343,156 (GRCm39) I1087T probably benign Het
Lrrc37a G T 11: 103,347,421 (GRCm39) H3091Q unknown Het
Mcm3ap T C 10: 76,306,150 (GRCm39) S88P possibly damaging Het
Mrps23 G A 11: 88,101,043 (GRCm39) R117Q probably benign Het
Nbea T C 3: 55,987,339 (GRCm39) S384G probably damaging Het
Ndufs4 A T 13: 114,444,373 (GRCm39) I135N possibly damaging Het
Noto T C 6: 85,401,091 (GRCm39) F40S probably damaging Het
Or8b50 C T 9: 38,518,166 (GRCm39) A135V probably benign Het
Papola T A 12: 105,785,114 (GRCm39) H415Q probably damaging Het
Pcm1 C T 8: 41,728,097 (GRCm39) T557I probably damaging Het
Pde11a A T 2: 75,906,274 (GRCm39) probably benign Het
Pls1 A G 9: 95,655,696 (GRCm39) V352A probably damaging Het
Pygm T C 19: 6,438,851 (GRCm39) S226P possibly damaging Het
Rnf17 T A 14: 56,671,828 (GRCm39) S273R probably benign Het
Scamp2 T C 9: 57,494,410 (GRCm39) V261A possibly damaging Het
Slc7a12 T A 3: 14,546,315 (GRCm39) F153L probably benign Het
Smchd1 A T 17: 71,667,186 (GRCm39) D1735E probably damaging Het
Stk40 A G 4: 126,017,507 (GRCm39) probably null Het
Tas2r124 C T 6: 132,732,497 (GRCm39) L269F possibly damaging Het
Tmem260 A C 14: 48,733,750 (GRCm39) I216L probably benign Het
Ubr1 C A 2: 120,791,637 (GRCm39) A116S possibly damaging Het
Unc13a T C 8: 72,102,193 (GRCm39) K991R probably damaging Het
Vmn2r66 T C 7: 84,657,138 (GRCm39) Y89C probably benign Het
Vps13b A C 15: 35,875,966 (GRCm39) I2784L probably damaging Het
Zbtb26 T A 2: 37,326,612 (GRCm39) K141N possibly damaging Het
Zranb1 T A 7: 132,552,126 (GRCm39) M259K probably 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
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
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
Posted On 2016-08-02