Incidental Mutation 'IGL02582:Nobox'
ID 299401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nobox
Ensembl Gene ENSMUSG00000029736
Gene Name NOBOX oogenesis homeobox
Synonyms Og2x
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.457) question?
Stock # IGL02582
Quality Score
Status
Chromosome 6
Chromosomal Location 43280608-43286488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 43281973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 367 (Q367K)
Ref Sequence ENSEMBL: ENSMUSP00000031749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031749]
AlphaFold Q8VIH1
Predicted Effect possibly damaging
Transcript: ENSMUST00000031749
AA Change: Q367K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: Q367K

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 probably benign
Transcript: ENSMUST00000172554
SMART Domains Protein: ENSMUSP00000133353
Gene: ENSMUSG00000029736

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T A 9: 53,506,045 (GRCm39) I92F probably benign Het
Actr3b A G 5: 26,037,411 (GRCm39) I208V probably benign Het
Car12 T C 9: 66,621,159 (GRCm39) V10A probably benign Het
Ccdc171 C A 4: 83,661,255 (GRCm39) R1122S probably damaging Het
Cep97 A G 16: 55,742,539 (GRCm39) V136A probably damaging Het
Cilp2 G T 8: 70,333,936 (GRCm39) Q1021K probably damaging Het
Col24a1 C A 3: 145,020,247 (GRCm39) T206N probably damaging Het
Crebbp A T 16: 3,902,141 (GRCm39) I2328K possibly damaging Het
Ctns A G 11: 73,087,478 (GRCm39) F16S probably benign Het
Dbf4 T C 5: 8,453,172 (GRCm39) K276E probably benign Het
Dnase2b T A 3: 146,294,840 (GRCm39) Q118L probably benign Het
Elf1 T C 14: 79,773,819 (GRCm39) L10P probably damaging Het
Exosc5 T C 7: 25,364,988 (GRCm39) probably null Het
Fam163b C T 2: 27,003,570 (GRCm39) C28Y probably damaging Het
Fam180a G T 6: 35,290,647 (GRCm39) A112E possibly damaging Het
Fam3b A T 16: 97,272,391 (GRCm39) Y89* probably null Het
Gcg C T 2: 62,308,922 (GRCm39) W77* probably null Het
Gm17472 G A 6: 42,957,832 (GRCm39) V34I possibly damaging Het
Klhl23 T A 2: 69,654,582 (GRCm39) C151S probably damaging Het
Mdh1b T A 1: 63,758,756 (GRCm39) I279F probably benign Het
Mfsd11 T A 11: 116,764,701 (GRCm39) I375N probably damaging Het
Mroh2b T A 15: 4,937,997 (GRCm39) I206N probably damaging Het
Myo1b T C 1: 51,821,133 (GRCm39) E456G possibly damaging Het
Nat8 G A 6: 85,807,783 (GRCm39) Q117* probably null Het
Nlrp4g A C 9: 124,349,764 (GRCm38) noncoding transcript Het
Nmt1 G T 11: 102,955,625 (GRCm39) G468C possibly damaging Het
Nusap1 A G 2: 119,479,470 (GRCm39) *428W probably null Het
Or12j4 T C 7: 140,046,560 (GRCm39) F149L probably benign Het
Or4c126 G A 2: 89,824,656 (GRCm39) M306I probably benign Het
Pbp2 T C 6: 135,287,147 (GRCm39) I67V probably benign Het
Pcdhb8 T G 18: 37,488,427 (GRCm39) M35R possibly damaging Het
Pkp1 T C 1: 135,817,664 (GRCm39) E157G probably damaging Het
Pomgnt1 C T 4: 116,015,747 (GRCm39) L560F probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Ptprd T A 4: 75,865,361 (GRCm39) R1446S probably damaging Het
Ptprq T C 10: 107,479,860 (GRCm39) T1137A probably benign Het
Sec22c T C 9: 121,514,630 (GRCm39) I153V probably benign Het
Slc30a5 C T 13: 100,949,155 (GRCm39) probably null Het
Smcr8 T C 11: 60,669,721 (GRCm39) S290P probably benign Het
Stambpl1 T G 19: 34,212,612 (GRCm39) L261V probably benign Het
Stk38l T C 6: 146,668,321 (GRCm39) probably null Het
Themis T C 10: 28,637,543 (GRCm39) F216L probably benign Het
Trmt1l T C 1: 151,309,536 (GRCm39) probably benign Het
Usp17lb C A 7: 104,489,937 (GRCm39) C330F probably damaging Het
Vmn2r120 A T 17: 57,831,724 (GRCm39) L355H probably damaging Het
Zc3h7b T A 15: 81,653,341 (GRCm39) C82S probably benign Het
Other mutations in Nobox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Nobox APN 6 43,280,935 (GRCm39) missense possibly damaging 0.85
IGL01399:Nobox APN 6 43,280,972 (GRCm39) missense probably benign 0.06
IGL01523:Nobox APN 6 43,281,057 (GRCm39) missense probably damaging 0.96
IGL01762:Nobox APN 6 43,280,927 (GRCm39) missense probably damaging 0.96
IGL02007:Nobox APN 6 43,284,472 (GRCm39) missense probably damaging 0.99
IGL02733:Nobox APN 6 43,284,136 (GRCm39) missense possibly damaging 0.95
IGL02902:Nobox APN 6 43,282,617 (GRCm39) missense probably benign 0.12
IGL02988:Nobox UTSW 6 43,282,095 (GRCm39) missense possibly damaging 0.79
R0056:Nobox UTSW 6 43,281,853 (GRCm39) missense probably benign 0.23
R0418:Nobox UTSW 6 43,284,169 (GRCm39) missense probably null
R0699:Nobox UTSW 6 43,284,144 (GRCm39) missense probably benign 0.11
R1387:Nobox UTSW 6 43,284,132 (GRCm39) missense probably damaging 1.00
R1619:Nobox UTSW 6 43,284,401 (GRCm39) missense possibly damaging 0.86
R1630:Nobox UTSW 6 43,284,146 (GRCm39) nonsense probably null
R2184:Nobox UTSW 6 43,281,819 (GRCm39) missense possibly damaging 0.72
R2760:Nobox UTSW 6 43,281,040 (GRCm39) missense probably damaging 0.99
R3752:Nobox UTSW 6 43,284,167 (GRCm39) missense probably damaging 0.96
R4273:Nobox UTSW 6 43,282,942 (GRCm39) missense probably benign 0.12
R4790:Nobox UTSW 6 43,282,480 (GRCm39) missense probably benign 0.12
R4805:Nobox UTSW 6 43,282,053 (GRCm39) missense probably damaging 0.99
R6109:Nobox UTSW 6 43,282,103 (GRCm39) missense probably damaging 0.98
R6759:Nobox UTSW 6 43,284,538 (GRCm39) missense possibly damaging 0.70
R7761:Nobox UTSW 6 43,281,125 (GRCm39) nonsense probably null
R8084:Nobox UTSW 6 43,282,101 (GRCm39) missense possibly damaging 0.92
R8113:Nobox UTSW 6 43,282,951 (GRCm39) missense probably benign 0.25
R8467:Nobox UTSW 6 43,282,479 (GRCm39) missense probably benign 0.12
R9035:Nobox UTSW 6 43,284,522 (GRCm39) missense probably damaging 0.96
R9474:Nobox UTSW 6 43,284,115 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16