Incidental Mutation 'IGL02733:Nobox'
ID305540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nobox
Ensembl Gene ENSMUSG00000029736
Gene NameNOBOX oogenesis homeobox
SynonymsOg2x
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.374) question?
Stock #IGL02733
Quality Score
Status
Chromosome6
Chromosomal Location43303674-43309554 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43307202 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 137 (K137E)
Ref Sequence ENSEMBL: ENSMUSP00000031749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031749]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031749
AA Change: K137E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: K137E

DomainStartEndE-ValueType
HOX 136 198 5.04e-23 SMART
low complexity region 364 384 N/A INTRINSIC
low complexity region 389 403 N/A INTRINSIC
low complexity region 408 420 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000172554
AA Change: K12E
SMART Domains Protein: ENSMUSP00000133353
Gene: ENSMUSG00000029736
AA Change: K12E

DomainStartEndE-ValueType
Pfam:Homeobox 1 22 4e-7 PFAM
low complexity region 161 173 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183706
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display oocyte degeneration after birth, atrophic ovaries, and female infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 T A 4: 49,447,793 T245S probably benign Het
Agl T C 3: 116,780,997 I718V probably benign Het
Cbs T A 17: 31,625,031 N209Y probably benign Het
Cd163 T C 6: 124,325,341 C955R probably damaging Het
Dnajb3 A G 1: 88,204,940 probably benign Het
Dopey2 G A 16: 93,739,191 R59Q possibly damaging Het
Dtx1 A G 5: 120,681,435 L566P probably damaging Het
Fam198a A G 9: 121,965,028 R83G probably benign Het
Fgf14 G T 14: 123,983,801 P197Q probably damaging Het
Gcc1 G A 6: 28,420,662 Q66* probably null Het
Gypc T C 18: 32,559,826 probably benign Het
Helz2 G A 2: 181,235,026 A1225V probably benign Het
Herc1 A G 9: 66,450,992 T2452A probably benign Het
Hoxc4 A G 15: 103,034,726 I2V probably benign Het
Impa1 A G 3: 10,328,965 I14T probably benign Het
Itih1 T A 14: 30,936,720 D400V probably damaging Het
Lama3 T C 18: 12,578,127 Y3206H probably damaging Het
Lce1k T A 3: 92,806,885 probably benign Het
Mcpt4 C T 14: 56,060,667 M142I probably benign Het
Myo15b A G 11: 115,884,250 E2168G probably benign Het
Myom3 G T 4: 135,814,303 E1402* probably null Het
Nfyb G T 10: 82,755,033 Q55K probably damaging Het
Pnlip T A 19: 58,680,788 D406E probably benign Het
Pole A T 5: 110,312,728 probably benign Het
Ppp2r2b T C 18: 42,648,728 Y336C possibly damaging Het
Prkg1 T C 19: 31,302,301 T178A probably damaging Het
Prr11 C T 11: 87,103,545 A92T possibly damaging Het
Racgap1 G T 15: 99,639,704 S67R probably damaging Het
Scn10a G A 9: 119,616,705 P1462S probably damaging Het
Sptbn1 T C 11: 30,197,747 E29G probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Vmn2r72 T A 7: 85,751,813 T133S probably benign Het
Zbtb20 A G 16: 43,609,933 H269R possibly damaging Het
Zwilch A T 9: 64,146,836 N526K probably benign Het
Other mutations in Nobox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Nobox APN 6 43304001 missense possibly damaging 0.85
IGL01399:Nobox APN 6 43304038 missense probably benign 0.06
IGL01523:Nobox APN 6 43304123 missense probably damaging 0.96
IGL01762:Nobox APN 6 43303993 missense probably damaging 0.96
IGL02007:Nobox APN 6 43307538 missense probably damaging 0.99
IGL02582:Nobox APN 6 43305039 missense possibly damaging 0.53
IGL02902:Nobox APN 6 43305683 missense probably benign 0.12
IGL02988:Nobox UTSW 6 43305161 missense possibly damaging 0.79
R0056:Nobox UTSW 6 43304919 missense probably benign 0.23
R0418:Nobox UTSW 6 43307235 missense probably null
R0699:Nobox UTSW 6 43307210 missense probably benign 0.11
R1387:Nobox UTSW 6 43307198 missense probably damaging 1.00
R1619:Nobox UTSW 6 43307467 missense possibly damaging 0.86
R1630:Nobox UTSW 6 43307212 nonsense probably null
R2184:Nobox UTSW 6 43304885 missense possibly damaging 0.72
R2760:Nobox UTSW 6 43304106 missense probably damaging 0.99
R3752:Nobox UTSW 6 43307233 missense probably damaging 0.96
R4273:Nobox UTSW 6 43306008 missense probably benign 0.12
R4790:Nobox UTSW 6 43305546 missense probably benign 0.12
R4805:Nobox UTSW 6 43305119 missense probably damaging 0.99
R6109:Nobox UTSW 6 43305169 missense probably damaging 0.98
R6759:Nobox UTSW 6 43307604 missense possibly damaging 0.70
R7761:Nobox UTSW 6 43304191 nonsense probably null
Posted On2015-04-16