Incidental Mutation 'R4805:Nobox'
ID 370618
Institutional Source Beutler Lab
Gene Symbol Nobox
Ensembl Gene ENSMUSG00000029736
Gene Name NOBOX oogenesis homeobox
Synonyms Og2x
MMRRC Submission 041999-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.457) question?
Stock # R4805 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 43280608-43286488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43282053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 340 (D340G)
Ref Sequence ENSEMBL: ENSMUSP00000031749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031749]
AlphaFold Q8VIH1
Predicted Effect probably damaging
Transcript: ENSMUST00000031749
AA Change: D340G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: D340G

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
Meta Mutation Damage Score 0.0667 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 99% (69/70)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,950,628 (GRCm39) Y1508* probably null Het
4931414P19Rik T C 14: 54,832,911 (GRCm39) E88G probably benign Het
Acaa1b A G 9: 118,986,014 (GRCm39) S17P probably benign Het
Arhgef7 G A 8: 11,881,552 (GRCm39) E565K probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bpnt1 T A 1: 185,077,504 (GRCm39) probably null Het
Ccnt1 C T 15: 98,442,189 (GRCm39) V360I probably benign Het
Chd4 T C 6: 125,105,908 (GRCm39) S1829P possibly damaging Het
Dennd1b A T 1: 138,981,122 (GRCm39) N112I probably damaging Het
Fat2 A T 11: 55,174,805 (GRCm39) D1969E probably benign Het
Flywch1 A C 17: 23,979,591 (GRCm39) D394E probably benign Het
Gal3st4 T A 5: 138,263,733 (GRCm39) probably null Het
Gm14403 T C 2: 177,200,492 (GRCm39) L146P probably damaging Het
Gm5283 G T 3: 17,285,123 (GRCm39) noncoding transcript Het
Gpr161 T A 1: 165,134,029 (GRCm39) L97Q probably damaging Het
Gstm2 A T 3: 107,892,411 (GRCm39) M105K possibly damaging Het
Hecw2 A G 1: 53,880,018 (GRCm39) Y1264H probably damaging Het
Ifi206 T A 1: 173,308,952 (GRCm39) Q348L possibly damaging Het
Ighv1-83 A T 12: 115,927,489 (GRCm39) M87K possibly damaging Het
Ighv2-7 A T 12: 113,771,154 (GRCm39) S44T probably damaging Het
Ipo7 T A 7: 109,650,691 (GRCm39) N884K probably benign Het
Itga2b T C 11: 102,358,692 (GRCm39) N75S probably benign Het
Krt20 A G 11: 99,319,811 (GRCm39) V431A unknown Het
Krt24 A T 11: 99,174,452 (GRCm39) I205N possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc31 A T 3: 30,745,446 (GRCm39) L67* probably null Het
Lrrc37a A G 11: 103,395,135 (GRCm39) F97L probably benign Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mgat4d T G 8: 84,084,787 (GRCm39) probably null Het
Mrgprb3 C T 7: 48,293,054 (GRCm39) V166I probably benign Het
Myh11 T A 16: 14,052,329 (GRCm39) Q379L possibly damaging Het
Myh7 T C 14: 55,222,590 (GRCm39) S782G probably benign Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Or2t29 G A 11: 58,433,396 (GRCm39) T315I probably benign Het
Or5b101 T A 19: 13,005,661 (GRCm39) I11F probably benign Het
Pikfyve T A 1: 65,307,959 (GRCm39) I1845N probably damaging Het
Pramel15 A G 4: 144,103,590 (GRCm39) Y179H probably benign Het
Rad21l T G 2: 151,509,927 (GRCm39) H58P probably damaging Het
Scnn1g T C 7: 121,345,825 (GRCm39) L316S probably damaging Het
Serpina5 G A 12: 104,068,460 (GRCm39) V174I probably damaging Het
Shank1 T C 7: 43,993,135 (GRCm39) S788P unknown Het
Shisal1 T A 15: 84,301,397 (GRCm39) H82L probably damaging Het
Snap47 A G 11: 59,319,343 (GRCm39) V265A possibly damaging Het
Steap3 T A 1: 120,171,616 (GRCm39) H163L probably benign Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tet2 A G 3: 133,173,076 (GRCm39) F1729L probably benign Het
Thsd7b T C 1: 130,116,276 (GRCm39) V1343A probably benign Het
Thumpd2 G A 17: 81,334,130 (GRCm39) T486I probably damaging Het
Ttc41 G T 10: 86,565,662 (GRCm39) M405I possibly damaging Het
Ttn T C 2: 76,577,873 (GRCm39) D24340G probably damaging Het
Vmn1r10 T G 6: 57,090,602 (GRCm39) F65V possibly damaging Het
Vmn2r118 G T 17: 55,899,581 (GRCm39) D774E probably damaging Het
Vmn2r13 C T 5: 109,304,331 (GRCm39) C700Y probably damaging Het
Wsb1 A C 11: 79,131,217 (GRCm39) M393R possibly damaging Het
Zmat3 A G 3: 32,397,504 (GRCm39) Y214H probably benign Het
Zswim3 C T 2: 164,662,099 (GRCm39) T193I possibly 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
IGL02007:Nobox APN 6 43,284,472 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TGCAGCAAGATCTGACCTG -3'
(R):5'- CCAAGGTTTGATGTTGCCAC -3'

Sequencing Primer
(F):5'- GGCAATAATCCTGTGATGAGTCTCC -3'
(R):5'- CAAGGTTTGATGTTGCCACAGAGATG -3'
Posted On 2016-02-04