Incidental Mutation 'IGL02007:Nobox'
ID 182252
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 # IGL02007
Quality Score
Status
Chromosome 6
Chromosomal Location 43280608-43286488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43284472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 58 (L58P)
Ref Sequence ENSEMBL: ENSMUSP00000031749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031749]
AlphaFold Q8VIH1
Predicted Effect probably damaging
Transcript: ENSMUST00000031749
AA Change: L58P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: L58P

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 C A 14: 68,870,668 (GRCm39) R335L possibly damaging Het
Adgrv1 T C 13: 81,716,862 (GRCm39) probably benign Het
Calcrl A G 2: 84,205,668 (GRCm39) C8R probably benign Het
Cntn4 T A 6: 106,632,490 (GRCm39) S505T probably benign Het
Cyp3a16 T C 5: 145,378,758 (GRCm39) probably benign Het
Dync2i2 A G 2: 29,928,402 (GRCm39) S75P probably benign Het
Fhip1a G T 3: 85,629,752 (GRCm39) P280T probably damaging Het
Gpatch11 A G 17: 79,149,593 (GRCm39) T198A probably benign Het
H2-T15 G T 17: 36,367,222 (GRCm39) N333K possibly damaging Het
Heatr5a C A 12: 51,962,941 (GRCm39) L986F probably damaging Het
Ift172 A G 5: 31,443,948 (GRCm39) I90T probably benign Het
Igkv3-9 A G 6: 70,565,445 (GRCm39) probably benign Het
Iqsec1 G A 6: 90,667,331 (GRCm39) P369S probably benign Het
Myh1 C A 11: 67,111,382 (GRCm39) T1607K probably benign Het
Myo18b T C 5: 113,022,838 (GRCm39) probably benign Het
Nwd2 T A 5: 63,962,042 (GRCm39) I542N possibly damaging Het
Or4k51 A G 2: 111,584,824 (GRCm39) T77A probably damaging Het
Or5p54 A G 7: 107,553,953 (GRCm39) Y35C probably damaging Het
Osm C T 11: 4,189,470 (GRCm39) R85W probably damaging Het
Pcdh20 T C 14: 88,707,031 (GRCm39) R90G probably benign Het
Pkhd1l1 T C 15: 44,397,129 (GRCm39) probably benign Het
Sec14l2 A G 11: 4,061,114 (GRCm39) S116P probably benign Het
Selenbp2 A C 3: 94,605,461 (GRCm39) N96H possibly damaging Het
Smarcal1 T C 1: 72,635,099 (GRCm39) S393P probably damaging Het
Tbc1d1 A G 5: 64,414,335 (GRCm39) Q103R probably damaging Het
Tmem63c T C 12: 87,119,647 (GRCm39) Y314H probably damaging Het
Zfp663 A C 2: 165,200,993 (GRCm39) S14A probably benign Het
Zmynd10 A G 9: 107,427,731 (GRCm39) N345S probably damaging 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
IGL02582:Nobox APN 6 43,281,973 (GRCm39) missense possibly damaging 0.53
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 2014-05-07