Incidental Mutation 'R0053:Nr5a1'
ID 16186
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 038347-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0053 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 38582668-38604554 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38584178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 414 (G414R)
Ref Sequence ENSEMBL: ENSMUSP00000108504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028084] [ENSMUST00000112883]
AlphaFold P33242
Predicted Effect probably damaging
Transcript: ENSMUST00000028084
AA Change: G414R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028084
Gene: ENSMUSG00000026751
AA Change: G414R

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 probably damaging
Transcript: ENSMUST00000112883
AA Change: G414R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108504
Gene: ENSMUSG00000026751
AA Change: G414R

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
Meta Mutation Damage Score 0.3439 question?
Coding Region Coverage
  • 1x: 89.7%
  • 3x: 87.2%
  • 10x: 81.1%
  • 20x: 72.5%
Validation Efficiency 94% (72/77)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10b A G 11: 43,107,391 (GRCm39) probably benign Het
AY761185 A T 8: 21,434,546 (GRCm39) probably benign Het
BC048671 G A 6: 90,282,076 (GRCm39) V78I probably benign Het
Cadm1 C T 9: 47,710,712 (GRCm39) T205I probably damaging Het
Capn3 A G 2: 120,322,318 (GRCm39) I413V possibly damaging Het
Cblb C T 16: 51,963,164 (GRCm39) T369I probably damaging Het
Ccdc54 T A 16: 50,410,597 (GRCm39) N223I probably benign Het
Cdc25c A G 18: 34,868,488 (GRCm39) V294A probably benign Het
Cep170 A T 1: 176,609,946 (GRCm39) S122T possibly damaging Het
Chd1 A G 17: 15,967,451 (GRCm39) N849D probably damaging Het
Cspg4b T C 13: 113,505,023 (GRCm39) W2051R probably benign Het
Dst A G 1: 34,333,631 (GRCm39) probably null Het
Fbxw9 T A 8: 85,791,083 (GRCm39) L250Q probably damaging Het
Fry C A 5: 150,384,842 (GRCm39) probably benign Het
Gm19993 A G 1: 19,905,272 (GRCm39) Het
Gpr75 A T 11: 30,842,571 (GRCm39) Q492L possibly damaging Het
Hc C T 2: 34,947,287 (GRCm39) E76K probably benign Het
Hivep2 T C 10: 14,007,865 (GRCm39) C1488R probably damaging Het
Inava C T 1: 136,155,288 (GRCm39) V106I probably benign Het
Insr A G 8: 3,205,683 (GRCm39) S1369P probably damaging Het
Insrr A C 3: 87,707,759 (GRCm39) D67A probably damaging Het
Irf2 T A 8: 47,271,886 (GRCm39) Y158N probably benign Het
Izumo3 A T 4: 92,033,267 (GRCm39) Y110N probably damaging Het
Katnbl1 A G 2: 112,234,586 (GRCm39) R23G probably benign Het
Kif7 A G 7: 79,351,927 (GRCm39) V945A probably benign Het
Lamb2 T A 9: 108,363,936 (GRCm39) C987* probably null Het
Mmp14 T A 14: 54,676,109 (GRCm39) probably benign Het
Mycbpap A G 11: 94,402,562 (GRCm39) Y258H probably damaging Het
Nav3 A G 10: 109,602,778 (GRCm39) probably benign Het
Parp10 T A 15: 76,126,446 (GRCm39) L247F probably damaging Het
Pcsk6 C T 7: 65,633,451 (GRCm39) probably benign Het
Pgap3 A T 11: 98,281,924 (GRCm39) V129D probably benign Het
Plcb1 A G 2: 135,136,835 (GRCm39) E310G probably benign Het
Plin3 T C 17: 56,586,892 (GRCm39) D385G probably damaging Het
Pole A T 5: 110,441,206 (GRCm39) D220V probably damaging Het
Resf1 T A 6: 149,229,088 (GRCm39) D711E probably benign Het
Rufy1 A T 11: 50,292,292 (GRCm39) M499K probably benign Het
Scn1a T G 2: 66,130,119 (GRCm39) D1232A probably benign Het
Sf3b1 G A 1: 55,039,532 (GRCm39) Q698* probably null Het
Shprh A T 10: 11,070,116 (GRCm39) probably null Het
Snd1 C A 6: 28,745,334 (GRCm39) probably benign Het
Stab1 C T 14: 30,862,644 (GRCm39) A2260T possibly damaging Het
Strn T C 17: 78,964,363 (GRCm39) H687R possibly damaging Het
Tgfb3 A T 12: 86,124,603 (GRCm39) I35N probably damaging Het
Tnks2 T C 19: 36,852,765 (GRCm39) S166P probably damaging Het
Ttll9 A T 2: 152,804,426 (GRCm39) probably benign Het
Tyw5 G A 1: 57,440,597 (GRCm39) T55M probably damaging Het
Usp19 A G 9: 108,374,369 (GRCm39) probably null Het
Wdfy3 A T 5: 101,992,480 (GRCm39) M3384K probably damaging Het
Zfp13 A T 17: 23,795,122 (GRCm39) I483N 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
IGL03081:Nr5a1 APN 2 38,600,544 (GRCm39) missense possibly damaging 0.92
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 2013-01-08