Incidental Mutation 'R9618:Obox1'
ID 724663
Institutional Source Beutler Lab
Gene Symbol Obox1
Ensembl Gene ENSMUSG00000054310
Gene Name oocyte specific homeobox 1
Synonyms 7420700M11Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R9618 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 15281182-15290771 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15289624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 138 (I138V)
Ref Sequence ENSEMBL: ENSMUSP00000067691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067288] [ENSMUST00000086122] [ENSMUST00000172463] [ENSMUST00000172881] [ENSMUST00000173245] [ENSMUST00000173443] [ENSMUST00000181001]
AlphaFold Q9D350
Predicted Effect possibly damaging
Transcript: ENSMUST00000067288
AA Change: I138V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067691
Gene: ENSMUSG00000054310
AA Change: I138V

DomainStartEndE-ValueType
HOX 94 156 2.18e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086122
SMART Domains Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000172463
AA Change: I138V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133504
Gene: ENSMUSG00000054310
AA Change: I138V

DomainStartEndE-ValueType
HOX 94 156 2.18e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000172881
AA Change: I138V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134688
Gene: ENSMUSG00000054310
AA Change: I138V

DomainStartEndE-ValueType
HOX 94 156 2.18e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173245
AA Change: I138V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133496
Gene: ENSMUSG00000054310
AA Change: I138V

DomainStartEndE-ValueType
HOX 94 156 2.18e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173443
AA Change: I138V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134043
Gene: ENSMUSG00000054310
AA Change: I138V

DomainStartEndE-ValueType
HOX 94 156 2.18e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000181001
AA Change: I138V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138010
Gene: ENSMUSG00000054310
AA Change: I138V

DomainStartEndE-ValueType
HOX 94 156 2.18e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik C T 3: 68,777,402 (GRCm39) P121L probably damaging Het
2310002L09Rik C A 4: 73,868,934 (GRCm39) M1I probably null Het
2510039O18Rik T A 4: 148,029,873 (GRCm39) Y614* probably null Het
4930562C15Rik A T 16: 4,667,418 (GRCm39) S270C unknown Het
Ak9 A C 10: 41,203,627 (GRCm39) T173P Het
Cfc1 T C 1: 34,575,560 (GRCm39) L78P probably benign Het
Chrd T G 16: 20,552,378 (GRCm39) C82W probably damaging Het
Cln6 T C 9: 62,758,111 (GRCm39) V290A probably damaging Het
Cps1 A G 1: 67,196,975 (GRCm39) D342G possibly damaging Het
Cracd A G 5: 77,004,617 (GRCm39) D326G unknown Het
Cryzl2 G A 1: 157,289,578 (GRCm39) R72H probably benign Het
Cyp2j6 A T 4: 96,414,085 (GRCm39) H393Q probably benign Het
Eefsec T C 6: 88,274,681 (GRCm39) T428A probably benign Het
Ergic1 G A 17: 26,827,619 (GRCm39) G25S probably damaging Het
Esf1 T C 2: 140,001,714 (GRCm39) I378V probably benign Het
Fndc1 T A 17: 7,990,313 (GRCm39) T1128S unknown Het
Gabrp A T 11: 33,504,342 (GRCm39) Y324* probably null Het
Hadha G A 5: 30,339,165 (GRCm39) T270M possibly damaging Het
Hdac1-ps T C 17: 78,799,114 (GRCm39) I35T probably damaging Het
Ino80d G A 1: 63,101,342 (GRCm39) T428M probably damaging Het
Itgae T C 11: 73,011,171 (GRCm39) F647S possibly damaging Het
Kank4 T C 4: 98,653,732 (GRCm39) R899G possibly damaging Het
Kcna4 T A 2: 107,126,374 (GRCm39) N369K probably benign Het
Kcnip3 G T 2: 127,352,812 (GRCm39) P69Q probably benign Het
Mcf2l A G 8: 13,034,320 (GRCm39) probably benign Het
Mtmr2 T C 9: 13,707,315 (GRCm39) V289A probably benign Het
Muc21 GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG GGGGTGGG 17: 35,932,935 (GRCm39) probably benign Het
Nxph1 T G 6: 9,247,108 (GRCm39) N26K probably benign Het
Or4c35 A T 2: 89,808,343 (GRCm39) T74S probably benign Het
Or4m1 A T 14: 50,557,760 (GRCm39) Y177* probably null Het
Or7e176 G A 9: 20,171,639 (GRCm39) V168M possibly damaging Het
P2ry14 T A 3: 59,023,251 (GRCm39) M70L probably damaging Het
Pcare T A 17: 72,057,817 (GRCm39) Y620F probably damaging Het
Pcnt A G 10: 76,188,794 (GRCm39) Y2869H probably damaging Het
Pkd1l1 T C 11: 8,911,420 (GRCm39) R286G Het
Pygb C T 2: 150,657,008 (GRCm39) R320W Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Slc15a5 A T 6: 138,032,779 (GRCm39) S192T possibly damaging Het
Tex15 A G 8: 34,062,397 (GRCm39) H609R probably benign Het
Tmem256 T A 11: 69,730,210 (GRCm39) S73T possibly damaging Het
Tpr G T 1: 150,321,979 (GRCm39) A2338S possibly damaging Het
Trub2 A T 2: 29,673,346 (GRCm39) M119K probably benign Het
Vmn1r228 T C 17: 20,997,045 (GRCm39) M158V probably benign Het
Vmn2r100 A T 17: 19,742,583 (GRCm39) H319L probably damaging Het
Vmn2r3 T A 3: 64,178,724 (GRCm39) I514F probably damaging Het
Wnt16 T A 6: 22,297,891 (GRCm39) Y252* probably null Het
Wnt16 G T 6: 22,297,892 (GRCm39) E253* probably null Het
Xkr4 A T 1: 3,741,201 (GRCm39) V124E probably damaging Het
Zc3h13 G T 14: 75,567,542 (GRCm39) R945L Het
Zfp445 T C 9: 122,685,788 (GRCm39) N251D probably damaging Het
Zfp683 A T 4: 133,782,965 (GRCm39) D143V probably benign Het
Other mutations in Obox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0420:Obox1 UTSW 7 15,290,178 (GRCm39) missense possibly damaging 0.90
R1374:Obox1 UTSW 7 15,289,426 (GRCm39) splice site probably benign
R1527:Obox1 UTSW 7 15,289,250 (GRCm39) missense probably damaging 1.00
R1984:Obox1 UTSW 7 15,289,135 (GRCm39) missense probably benign 0.18
R4585:Obox1 UTSW 7 15,290,152 (GRCm39) missense possibly damaging 0.66
R4586:Obox1 UTSW 7 15,290,152 (GRCm39) missense possibly damaging 0.66
R4680:Obox1 UTSW 7 15,290,089 (GRCm39) missense probably damaging 1.00
R4883:Obox1 UTSW 7 15,290,263 (GRCm39) missense probably damaging 1.00
R5742:Obox1 UTSW 7 15,289,430 (GRCm39) missense possibly damaging 0.73
R6331:Obox1 UTSW 7 15,289,294 (GRCm39) missense probably benign 0.00
R6596:Obox1 UTSW 7 15,289,301 (GRCm39) missense probably damaging 1.00
R7442:Obox1 UTSW 7 15,289,491 (GRCm39) missense probably benign 0.00
R7919:Obox1 UTSW 7 15,290,256 (GRCm39) nonsense probably null
R7946:Obox1 UTSW 7 15,289,456 (GRCm39) missense probably benign 0.38
R8275:Obox1 UTSW 7 15,290,153 (GRCm39) missense probably damaging 1.00
R8447:Obox1 UTSW 7 15,289,541 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTCTCAGGGCATCCAAGTC -3'
(R):5'- CTGGTACCTGTTTAATGGAGAATG -3'

Sequencing Primer
(F):5'- CCCATAGGTTGTATGCTACTGTCAG -3'
(R):5'- TGTGAGGCCCAGCAATG -3'
Posted On 2022-09-12