Incidental Mutation 'IGL01523:Nobox'
ID 89466
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: 0.362) question?
Stock # IGL01523
Quality Score
Chromosome 6
Chromosomal Location 43303674-43309554 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 43304123 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 472 (K472N)
Ref Sequence ENSEMBL: ENSMUSP00000031749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031749]
AlphaFold Q8VIH1
Predicted Effect probably damaging
Transcript: ENSMUST00000031749
AA Change: K472N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: K472N

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: K271N
SMART Domains Protein: ENSMUSP00000133353
Gene: ENSMUSG00000029736
AA Change: K271N

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,976,494 (GRCm38) E246G probably damaging Het
B3galt5 T A 16: 96,315,891 (GRCm38) D241E probably damaging Het
Camta1 A G 4: 151,145,050 (GRCm38) F442L possibly damaging Het
Cntnap5b A T 1: 100,431,779 (GRCm38) E709V probably benign Het
Ctnnal1 T C 4: 56,835,243 (GRCm38) I345V probably damaging Het
Evpl T C 11: 116,233,444 (GRCm38) N183S probably damaging Het
Fam90a1b T C X: 94,356,759 (GRCm38) D155G probably benign Het
Fsip2 G A 2: 82,977,519 (GRCm38) S1394N probably benign Het
Gcnt2 A T 13: 40,887,863 (GRCm38) Q166L probably benign Het
Gpatch1 T C 7: 35,308,338 (GRCm38) D99G probably null Het
Grin2b A T 6: 136,044,265 (GRCm38) W13R probably null Het
Hbb-bh1 C T 7: 103,841,817 (GRCm38) V127M probably benign Het
Hc C T 2: 35,039,238 (GRCm38) M282I probably benign Het
Hirip3 A G 7: 126,862,704 (GRCm38) E57G probably damaging Het
Inpp5j C T 11: 3,495,932 (GRCm38) probably null Het
Krt84 A T 15: 101,528,744 (GRCm38) V328E probably damaging Het
Lrriq1 C A 10: 103,218,116 (GRCm38) E247* probably null Het
Mmrn2 T A 14: 34,403,217 (GRCm38) F918L probably damaging Het
Myh13 A G 11: 67,347,943 (GRCm38) E704G possibly damaging Het
Myo16 T A 8: 10,370,908 (GRCm38) N249K probably damaging Het
Or1j1 T A 2: 36,812,403 (GRCm38) T230S probably benign Het
Orc4 A T 2: 48,917,224 (GRCm38) S232T probably benign Het
Pign A T 1: 105,653,178 (GRCm38) Y159N probably damaging Het
Rere T A 4: 150,615,555 (GRCm38) V1032E possibly damaging Het
Ror2 T C 13: 53,118,963 (GRCm38) Q210R probably benign Het
Sh3tc2 G A 18: 61,990,883 (GRCm38) R905Q probably benign Het
Ttn A G 2: 76,954,983 (GRCm38) S683P possibly damaging Het
Other mutations in Nobox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Nobox APN 6 43,304,001 (GRCm38) missense possibly damaging 0.85
IGL01399:Nobox APN 6 43,304,038 (GRCm38) missense probably benign 0.06
IGL01762:Nobox APN 6 43,303,993 (GRCm38) missense probably damaging 0.96
IGL02007:Nobox APN 6 43,307,538 (GRCm38) missense probably damaging 0.99
IGL02582:Nobox APN 6 43,305,039 (GRCm38) missense possibly damaging 0.53
IGL02733:Nobox APN 6 43,307,202 (GRCm38) missense possibly damaging 0.95
IGL02902:Nobox APN 6 43,305,683 (GRCm38) missense probably benign 0.12
IGL02988:Nobox UTSW 6 43,305,161 (GRCm38) missense possibly damaging 0.79
R0056:Nobox UTSW 6 43,304,919 (GRCm38) missense probably benign 0.23
R0418:Nobox UTSW 6 43,307,235 (GRCm38) missense probably null
R0699:Nobox UTSW 6 43,307,210 (GRCm38) missense probably benign 0.11
R1387:Nobox UTSW 6 43,307,198 (GRCm38) missense probably damaging 1.00
R1619:Nobox UTSW 6 43,307,467 (GRCm38) missense possibly damaging 0.86
R1630:Nobox UTSW 6 43,307,212 (GRCm38) nonsense probably null
R2184:Nobox UTSW 6 43,304,885 (GRCm38) missense possibly damaging 0.72
R2760:Nobox UTSW 6 43,304,106 (GRCm38) missense probably damaging 0.99
R3752:Nobox UTSW 6 43,307,233 (GRCm38) missense probably damaging 0.96
R4273:Nobox UTSW 6 43,306,008 (GRCm38) missense probably benign 0.12
R4790:Nobox UTSW 6 43,305,546 (GRCm38) missense probably benign 0.12
R4805:Nobox UTSW 6 43,305,119 (GRCm38) missense probably damaging 0.99
R6109:Nobox UTSW 6 43,305,169 (GRCm38) missense probably damaging 0.98
R6759:Nobox UTSW 6 43,307,604 (GRCm38) missense possibly damaging 0.70
R7761:Nobox UTSW 6 43,304,191 (GRCm38) nonsense probably null
R8084:Nobox UTSW 6 43,305,167 (GRCm38) missense possibly damaging 0.92
R8113:Nobox UTSW 6 43,306,017 (GRCm38) missense probably benign 0.25
R8467:Nobox UTSW 6 43,305,545 (GRCm38) missense probably benign 0.12
R9035:Nobox UTSW 6 43,307,588 (GRCm38) missense probably damaging 0.96
R9474:Nobox UTSW 6 43,307,181 (GRCm38) missense probably damaging 1.00
Posted On 2013-12-03