Incidental Mutation 'IGL00898:Nr0b1'
ID 29567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr0b1
Ensembl Gene ENSMUSG00000025056
Gene Name nuclear receptor subfamily 0, group B, member 1
Synonyms Ahch, Dax1, Ahc, AHX, DAX-1
Accession Numbers
Essential gene? Not available question?
Stock # IGL00898
Quality Score
Status
Chromosome X
Chromosomal Location 85235381-85239553 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85236077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 224 (Q224L)
Ref Sequence ENSEMBL: ENSMUSP00000026036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026036]
AlphaFold Q61066
PDB Structure Structure of Dax-1:LRH-1 complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000026036
AA Change: Q224L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000026036
Gene: ENSMUSG00000025056
AA Change: Q224L

DomainStartEndE-ValueType
Pfam:NR_Repeat 1 49 3.5e-30 PFAM
Pfam:NR_Repeat 68 116 1.5e-27 PFAM
Pfam:NR_Repeat 136 183 3.4e-27 PFAM
Pfam:NR_Repeat 203 248 7.1e-20 PFAM
HOLI 258 442 1.67e-23 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an orphan nuclear receptor protein that plays a key role in differentiation of the gonads. This protein regulates steroidogenic factor 1 (Sf-1) in a dose-dependent manner, sometimes functioning as a repressor of SF-1 target genes, and sometimes functioning as a co-activator. Overexpression of this gene can cause feminization of the XY male gonads. This gene is also involved in the maintenance of embryonic stem cell pluripotancy. Mutations in the related gene in human cause congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, May 2015]
PHENOTYPE: Mutations that inactivate this X-linked gene result in abnormal repoductive development in the hemizygote, ranging from defects in testes development and spermatogenesis to complete male to female sex reversal depending on genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,783,690 (GRCm39) G956S probably damaging Het
Alpk2 G T 18: 65,483,644 (GRCm39) D121E probably benign Het
Apc A G 18: 34,450,147 (GRCm39) T2314A probably damaging Het
Arhgef11 T C 3: 87,636,810 (GRCm39) L990P probably damaging Het
Ccar1 T A 10: 62,589,013 (GRCm39) K823N unknown Het
Celsr2 C T 3: 108,321,195 (GRCm39) R539H possibly damaging Het
Clca3b A G 3: 144,550,389 (GRCm39) probably benign Het
Cpxcr1 T C X: 115,387,407 (GRCm39) L106S possibly damaging Het
Edc4 T A 8: 106,607,755 (GRCm39) L16Q probably damaging Het
Emc1 A G 4: 139,098,941 (GRCm39) E808G probably damaging Het
Epha6 A T 16: 59,595,904 (GRCm39) probably null Het
Epha7 G A 4: 28,938,693 (GRCm39) R516Q probably damaging Het
Fancm T C 12: 65,152,774 (GRCm39) S1077P probably benign Het
Gm4952 C T 19: 12,595,772 (GRCm39) T54I probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Il1b T C 2: 129,209,253 (GRCm39) R126G possibly damaging Het
Kin G A 2: 10,085,515 (GRCm39) R25H probably damaging Het
Kin T C 2: 10,085,517 (GRCm39) W26R probably damaging Het
Lamb3 A T 1: 193,021,191 (GRCm39) T923S possibly damaging Het
Lrp6 C T 6: 134,456,702 (GRCm39) S854N probably damaging Het
Ltv1 A G 10: 13,058,031 (GRCm39) F258L probably damaging Het
Mcm3ap T C 10: 76,306,159 (GRCm39) S91P probably benign Het
Msra A G 14: 64,360,774 (GRCm39) I125T probably damaging Het
Nr2e1 T A 10: 42,444,449 (GRCm39) D220V probably damaging Het
Nup160 C A 2: 90,523,450 (GRCm39) H351Q probably damaging Het
Or5b96 T A 19: 12,867,282 (GRCm39) M220L probably benign Het
Pcdh12 C A 18: 38,414,510 (GRCm39) V872L probably benign Het
Pcnx2 T A 8: 126,614,324 (GRCm39) S376C probably damaging Het
Pkd2 A G 5: 104,631,001 (GRCm39) E475G probably damaging Het
Psg22 A G 7: 18,458,392 (GRCm39) Y322C probably damaging Het
Rgl2 T C 17: 34,152,392 (GRCm39) I363T possibly damaging Het
Rimklb G T 6: 122,433,590 (GRCm39) Q187K possibly damaging Het
Sectm1b A T 11: 120,947,075 (GRCm39) W17R probably damaging Het
Snu13 C A 15: 81,926,516 (GRCm39) A60S probably benign Het
Sox30 T A 11: 45,882,727 (GRCm39) F586I possibly damaging Het
Tnfsfm13 C A 11: 69,575,127 (GRCm39) V220L probably benign Het
Ttn A T 2: 76,593,117 (GRCm39) V20711E probably damaging Het
Vmn2r116 A G 17: 23,604,969 (GRCm39) N94S possibly damaging Het
Yipf2 T C 9: 21,503,820 (GRCm39) probably null Het
Zzef1 T C 11: 72,765,999 (GRCm39) S1509P probably benign Het
Posted On 2013-04-17