Incidental Mutation 'R4496:Obox7'
ID 330973
Institutional Source Beutler Lab
Gene Symbol Obox7
Ensembl Gene ENSMUSG00000055942
Gene Name oocyte specific homeobox 7
Synonyms Gm4745
MMRRC Submission 041749-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R4496 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 14393633-14399921 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14399299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 175 (T175I)
Ref Sequence ENSEMBL: ENSMUSP00000138932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069740] [ENSMUST00000183424] [ENSMUST00000183788]
AlphaFold Q4KL20
Predicted Effect probably benign
Transcript: ENSMUST00000069740
AA Change: T175I

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000069239
Gene: ENSMUSG00000055942
AA Change: T175I

DomainStartEndE-ValueType
HOX 94 156 1.89e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183424
SMART Domains Protein: ENSMUSP00000138871
Gene: ENSMUSG00000055942

DomainStartEndE-ValueType
Pfam:Homeobox 95 137 7.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183788
AA Change: T175I

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138932
Gene: ENSMUSG00000055942
AA Change: T175I

DomainStartEndE-ValueType
HOX 94 156 1.89e-13 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,602,947 (GRCm39) L514H possibly damaging Het
Abca7 T C 10: 79,838,768 (GRCm39) F647S probably damaging Het
Ahi1 A G 10: 20,841,444 (GRCm39) K244E probably benign Het
Ankhd1 G A 18: 36,693,839 (GRCm39) D17N probably damaging Het
Arvcf G T 16: 18,223,932 (GRCm39) K890N probably damaging Het
Atosa T A 9: 74,938,813 (GRCm39) S1038T probably damaging Het
Atp11c T C X: 59,326,104 (GRCm39) D478G probably damaging Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Clca3a2 C T 3: 144,797,926 (GRCm39) D180N possibly damaging Het
Comt T C 16: 18,230,437 (GRCm39) probably null Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Cyp2d11 C T 15: 82,276,149 (GRCm39) probably benign Het
Fam169b G T 7: 68,007,954 (GRCm39) C289F possibly damaging Het
Fastkd5 T C 2: 130,458,501 (GRCm39) T30A probably benign Het
Fchsd2 A C 7: 100,931,702 (GRCm39) T753P probably benign Het
Gatd3a T C 10: 77,999,377 (GRCm39) I145V probably damaging Het
Glis3 G A 19: 28,643,527 (GRCm39) S5L possibly damaging Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
Gpt A T 15: 76,582,663 (GRCm39) Q276L probably damaging Het
Gtf3c3 G T 1: 54,463,291 (GRCm39) S302R probably benign Het
Hnrnpc A G 14: 52,312,888 (GRCm39) S229P probably benign Het
Ikzf5 T C 7: 130,998,393 (GRCm39) probably null Het
Mal2 T C 15: 54,461,835 (GRCm39) V110A probably damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Myo3b A G 2: 70,084,748 (GRCm39) D702G probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nat10 T A 2: 103,588,084 (GRCm39) I14F probably damaging Het
Nat14 C T 7: 4,926,918 (GRCm39) T30M probably damaging Het
Ndst4 C A 3: 125,476,922 (GRCm39) A49D probably damaging Het
Nnt A T 13: 119,518,301 (GRCm39) M292K probably damaging Het
Or2t26 T A 11: 49,039,214 (GRCm39) N43K possibly damaging Het
Or6c5c T G 10: 129,299,430 (GRCm39) V295G possibly damaging Het
Plekhm3 T C 1: 64,900,395 (GRCm39) E634G probably damaging Het
Plxdc2 T A 2: 16,517,040 (GRCm39) I107K probably damaging Het
Psmb10 T A 8: 106,662,660 (GRCm39) R226S probably damaging Het
Ptprr T A 10: 116,065,407 (GRCm39) V160E possibly damaging Het
Sema5a T A 15: 32,641,133 (GRCm39) L649H probably damaging Het
Sephs1 T A 2: 4,911,494 (GRCm39) I356K probably benign Het
Serpinb3d C T 1: 107,007,022 (GRCm39) V229M probably damaging Het
Slc7a4 T C 16: 17,393,676 (GRCm39) D41G probably damaging Het
Sort1 T C 3: 108,217,461 (GRCm39) V121A probably benign Het
Tcf20 C A 15: 82,739,185 (GRCm39) Q755H probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ttll13 A T 7: 79,906,667 (GRCm39) Y445F probably benign Het
Usp40 T C 1: 87,923,459 (GRCm39) I271V possibly damaging Het
Vmn1r72 A G 7: 11,403,791 (GRCm39) I219T 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 14,398,032 (GRCm39) missense probably damaging 0.99
R4178:Obox7 UTSW 7 14,398,031 (GRCm39) missense probably damaging 0.99
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'- AATTTCACCTTGTGGTCCAGTTG -3'
(R):5'- ACTGCTGCTGATTGACCAGAG -3'

Sequencing Primer
(F):5'- TTGGGGGCAAAGAGGTATTC -3'
(R):5'- TGGCCATCAAGCAGGTATTC -3'
Posted On 2015-07-21