Incidental Mutation 'R4178:Obox7'
ID 319594
Institutional Source Beutler Lab
Gene Symbol Obox7
Ensembl Gene ENSMUSG00000055942
Gene Name oocyte specific homeobox 7
Synonyms Gm4745
MMRRC Submission 040864-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R4178 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 14393633-14399921 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14398032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 24 (Q24R)
Ref Sequence ENSEMBL: ENSMUSP00000138932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069740] [ENSMUST00000183424] [ENSMUST00000183788]
AlphaFold Q4KL20
Predicted Effect probably damaging
Transcript: ENSMUST00000069740
AA Change: Q24R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069239
Gene: ENSMUSG00000055942
AA Change: Q24R

DomainStartEndE-ValueType
HOX 94 156 1.89e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000183424
AA Change: Q24R

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138871
Gene: ENSMUSG00000055942
AA Change: Q24R

DomainStartEndE-ValueType
Pfam:Homeobox 95 137 7.8e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000183788
AA Change: Q24R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138932
Gene: ENSMUSG00000055942
AA Change: Q24R

DomainStartEndE-ValueType
HOX 94 156 1.89e-13 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxrl A G 14: 33,776,928 (GRCm39) probably null Het
Atp2b2 A T 6: 113,770,679 (GRCm39) V410E probably damaging Het
C6 G A 15: 4,764,621 (GRCm39) V106I probably benign Het
Cdhr1 A C 14: 36,804,896 (GRCm39) probably null Het
Cfap44 T A 16: 44,272,216 (GRCm39) L1323Q possibly damaging Het
Ehd4 T A 2: 119,984,829 (GRCm39) Y43F probably damaging Het
Eno1 T C 4: 150,328,490 (GRCm39) I90T possibly damaging Het
Epb41l1 A G 2: 156,363,477 (GRCm39) Y662C probably benign Het
Fkbp14 A G 6: 54,566,299 (GRCm39) L103P probably damaging Het
Gm10322 C A 10: 59,452,052 (GRCm39) N56K probably benign Het
Iqcd C A 5: 120,740,476 (GRCm39) T269K probably damaging Het
Kat6b T A 14: 21,668,972 (GRCm39) C249* probably null Het
Kcnab2 T C 4: 152,489,058 (GRCm39) R109G probably null Het
Or5p1 A G 7: 107,916,565 (GRCm39) N155D probably damaging Het
Or5p68 G A 7: 107,945,765 (GRCm39) T141I probably benign Het
Or8g18 A C 9: 39,149,375 (GRCm39) L115* probably null Het
Rasgrf2 C T 13: 92,038,717 (GRCm39) G1043D probably damaging Het
Slf1 A G 13: 77,191,688 (GRCm39) S1049P probably damaging Het
Smc1b A T 15: 85,004,848 (GRCm39) F409I possibly damaging Het
Tab2 A G 10: 7,795,123 (GRCm39) V453A probably damaging Het
Ubr4 A G 4: 139,120,725 (GRCm39) Y338C probably damaging Het
Usp6nl A G 2: 6,445,787 (GRCm39) E588G probably benign Het
Vcan T C 13: 89,873,666 (GRCm39) R63G probably damaging Het
Zfp775 A G 6: 48,590,187 (GRCm39) probably null Het
Zfpm2 T C 15: 40,966,940 (GRCm39) C1010R probably damaging Het
Other mutations in Obox7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Obox7 APN 7 14,397,957 (GRCm39) utr 5 prime probably benign
IGL02604:Obox7 APN 7 14,399,293 (GRCm39) missense probably benign 0.00
R0058:Obox7 UTSW 7 14,398,313 (GRCm39) missense probably benign 0.30
R1656:Obox7 UTSW 7 14,399,346 (GRCm39) missense probably benign 0.01
R1977:Obox7 UTSW 7 14,398,323 (GRCm39) missense probably damaging 1.00
R3708:Obox7 UTSW 7 14,398,122 (GRCm39) nonsense probably null
R3939:Obox7 UTSW 7 14,397,972 (GRCm39) missense probably benign 0.05
R4178:Obox7 UTSW 7 14,398,031 (GRCm39) missense probably damaging 0.99
R4496:Obox7 UTSW 7 14,399,299 (GRCm39) missense probably benign 0.19
R4818:Obox7 UTSW 7 14,398,410 (GRCm39) missense probably damaging 1.00
R7839:Obox7 UTSW 7 14,399,350 (GRCm39) missense probably benign 0.01
R9680:Obox7 UTSW 7 14,398,067 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAATGAGGGTCCTGATTGATTCC -3'
(R):5'- ACAGCACCTTGTTGCATTTGG -3'

Sequencing Primer
(F):5'- TGTCCATAACAAATGCTAGGTAGGC -3'
(R):5'- AGCACCTTGTTGCATTTGGATACC -3'
Posted On 2015-06-10