Incidental Mutation 'R4834:Ofcc1'
ID 373093
Institutional Source Beutler Lab
Gene Symbol Ofcc1
Ensembl Gene ENSMUSG00000047094
Gene Name orofacial cleft 1 candidate 1
Synonyms Opo, ojoplano
MMRRC Submission 041977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4834 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 40155358-40514926 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40168864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 841 (T841I)
Ref Sequence ENSEMBL: ENSMUSP00000062217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054635] [ENSMUST00000224909]
AlphaFold Q8BGX4
Predicted Effect probably damaging
Transcript: ENSMUST00000054635
AA Change: T841I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: T841I

DomainStartEndE-ValueType
Pfam:OFCC1 5 113 1.3e-57 PFAM
transmembrane domain 575 592 N/A INTRINSIC
transmembrane domain 599 618 N/A INTRINSIC
transmembrane domain 633 655 N/A INTRINSIC
transmembrane domain 667 689 N/A INTRINSIC
transmembrane domain 721 743 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224909
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal skull morphology and normal behavior with in increase in gamma-glutamyl transpeptidase. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A C 9: 53,343,787 (GRCm39) D146A possibly damaging Het
Acsl5 C A 19: 55,268,991 (GRCm39) D217E probably benign Het
Acss3 A G 10: 106,920,666 (GRCm39) probably null Het
Adam24 G A 8: 41,132,738 (GRCm39) G69R probably damaging Het
Adgrg7 A T 16: 56,553,232 (GRCm39) W622R probably damaging Het
Ajm1 T C 2: 25,469,530 (GRCm39) E127G possibly damaging Het
Ankrd26 T C 6: 118,500,679 (GRCm39) M931V probably benign Het
Ano8 C T 8: 71,936,939 (GRCm39) V187M probably damaging Het
Ap3d1 A T 10: 80,555,560 (GRCm39) C348S probably damaging Het
Apob T C 12: 8,064,101 (GRCm39) V376A possibly damaging Het
Arhgap21 A T 2: 20,870,130 (GRCm39) D925E probably damaging Het
Bmp6 T A 13: 38,669,817 (GRCm39) V367E probably damaging Het
Bmp8b A T 4: 123,016,843 (GRCm39) Q348L probably damaging Het
Ccr1l1 T C 9: 123,777,742 (GRCm39) K235R probably damaging Het
Cd59a G A 2: 103,944,431 (GRCm39) C93Y probably damaging Het
Clstn3 C T 6: 124,408,912 (GRCm39) probably null Het
Col4a2 C A 8: 11,456,836 (GRCm39) Y236* probably null Het
Csn1s2a T C 5: 87,929,637 (GRCm39) F79L probably benign Het
Cyp4a10 A C 4: 115,383,005 (GRCm39) Y360S probably damaging Het
Cyp4a29 A T 4: 115,106,867 (GRCm39) I175F probably benign Het
Dck T A 5: 88,920,595 (GRCm39) I105N probably damaging Het
Dicer1 A G 12: 104,662,850 (GRCm39) L1577P probably benign Het
Disp2 G A 2: 118,622,985 (GRCm39) S1239N probably benign Het
Dop1b T C 16: 93,536,892 (GRCm39) M1T probably null Het
E130308A19Rik T A 4: 59,690,317 (GRCm39) C50* probably null Het
Elf2 A T 3: 51,184,642 (GRCm39) D14E probably damaging Het
Epm2aip1 C T 9: 111,102,262 (GRCm39) R412C probably benign Het
Foxm1 T C 6: 128,346,410 (GRCm39) F114L probably damaging Het
Glcci1 C T 6: 8,582,601 (GRCm39) R134* probably null Het
Gm57859 C A 11: 113,579,805 (GRCm39) T400K probably benign Het
Gspt1 T C 16: 11,040,581 (GRCm39) K576E probably damaging Het
H2-M10.3 T C 17: 36,678,286 (GRCm39) K180E probably benign Het
Hecw2 A T 1: 53,869,911 (GRCm39) V1439E probably damaging Het
Hr T C 14: 70,797,362 (GRCm39) S561P probably damaging Het
Hunk T C 16: 90,293,086 (GRCm39) V456A probably benign Het
Il1rap T A 16: 26,495,685 (GRCm39) D97E probably damaging Het
Inpp5d T G 1: 87,625,245 (GRCm39) V474G possibly damaging Het
Itsn1 T A 16: 91,703,677 (GRCm39) L87* probably null Het
Izumo3 T C 4: 92,035,208 (GRCm39) D3G possibly damaging Het
Kifc2 T A 15: 76,545,511 (GRCm39) M1K probably null Het
Krt8 T A 15: 101,907,256 (GRCm39) I276F probably damaging Het
Ksr2 C A 5: 117,806,392 (GRCm39) Q402K probably benign Het
Lama2 A G 10: 26,882,745 (GRCm39) V2606A probably benign Het
Met A G 6: 17,491,412 (GRCm39) H58R probably damaging Het
Mier3 C T 13: 111,851,643 (GRCm39) Q542* probably null Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Msl3l2 C T 10: 55,991,655 (GRCm39) R127C probably damaging Het
Naglu T C 11: 100,967,814 (GRCm39) L588P probably benign Het
Nf1 T C 11: 79,437,123 (GRCm39) L2013P probably damaging Het
Nid1 A G 13: 13,683,408 (GRCm39) Y1162C probably damaging Het
Nlrc5 G T 8: 95,232,113 (GRCm39) R1313L probably benign Het
Nrg1 A G 8: 32,407,747 (GRCm39) V162A probably benign Het
Nup188 T C 2: 30,229,596 (GRCm39) L1310P probably damaging Het
Or14a259 G A 7: 86,012,952 (GRCm39) L198F probably benign Het
Or4f6 A G 2: 111,839,276 (GRCm39) L85P probably damaging Het
Or5ae1 T G 7: 84,565,491 (GRCm39) F168C probably damaging Het
Pbk T A 14: 66,052,733 (GRCm39) L192* probably null Het
Pcdhga4 T C 18: 37,818,490 (GRCm39) I13T probably benign Het
Peg10 A T 6: 4,754,294 (GRCm39) probably benign Het
Polq T A 16: 36,848,176 (GRCm39) V261D probably damaging Het
Ppp2r5b T A 19: 6,280,540 (GRCm39) T313S possibly damaging Het
Ptk2 A T 15: 73,087,945 (GRCm39) probably null Het
Ptpn7 T A 1: 135,065,618 (GRCm39) probably null Het
Rab11fip1 A G 8: 27,643,111 (GRCm39) S563P probably damaging Het
Scn1a A T 2: 66,158,866 (GRCm39) C351* probably null Het
Slc10a5 A T 3: 10,399,859 (GRCm39) V267D probably damaging Het
Slc37a2 T A 9: 37,146,404 (GRCm39) M368L probably damaging Het
Slc49a4 T A 16: 35,555,945 (GRCm39) T172S probably benign Het
Slc6a20b T A 9: 123,425,113 (GRCm39) T585S probably benign Het
Srcap T C 7: 127,156,782 (GRCm39) probably null Het
Tbx18 T C 9: 87,609,502 (GRCm39) M178V possibly damaging Het
Tmprss11b C A 5: 86,811,418 (GRCm39) C172F probably damaging Het
Traf5 T C 1: 191,751,198 (GRCm39) Q91R probably benign Het
Trappc8 A T 18: 20,958,122 (GRCm39) Y1248N probably damaging Het
Trpa1 A G 1: 14,966,747 (GRCm39) L539S possibly damaging Het
Tyrp1 T A 4: 80,764,833 (GRCm39) Y3* probably null Het
Ubr7 A T 12: 102,727,761 (GRCm39) K94N probably damaging Het
Ugt2a1 C A 5: 87,633,894 (GRCm39) probably null Het
Unc50 T A 1: 37,471,710 (GRCm39) I120K probably damaging Het
Usp28 T C 9: 48,912,836 (GRCm39) V29A probably damaging Het
Usp9y A G Y: 1,317,002 (GRCm39) I1849T probably benign Het
Vmn2r102 T A 17: 19,898,203 (GRCm39) V406E probably damaging Het
Vmn2r4 G A 3: 64,317,484 (GRCm39) R85W probably benign Het
Xirp2 A G 2: 67,346,750 (GRCm39) D2997G probably benign Het
Zc2hc1c A T 12: 85,336,982 (GRCm39) E213V probably damaging Het
Zfp420 C T 7: 29,573,759 (GRCm39) probably benign Het
Zfp641 C T 15: 98,191,585 (GRCm39) E34K probably damaging Het
Other mutations in Ofcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Ofcc1 APN 13 40,296,280 (GRCm39) missense probably damaging 0.97
IGL00489:Ofcc1 APN 13 40,433,967 (GRCm39) missense probably damaging 1.00
IGL01952:Ofcc1 APN 13 40,434,337 (GRCm39) missense probably damaging 1.00
IGL02126:Ofcc1 APN 13 40,362,251 (GRCm39) missense probably benign
IGL02619:Ofcc1 APN 13 40,250,553 (GRCm39) missense possibly damaging 0.68
IGL03069:Ofcc1 APN 13 40,226,140 (GRCm39) missense probably benign 0.38
IGL03133:Ofcc1 APN 13 40,226,244 (GRCm39) missense probably benign 0.36
IGL03273:Ofcc1 APN 13 40,334,001 (GRCm39) missense probably damaging 1.00
IGL03343:Ofcc1 APN 13 40,226,140 (GRCm39) missense probably benign 0.38
IGL03349:Ofcc1 APN 13 40,226,228 (GRCm39) missense probably benign 0.13
IGL03399:Ofcc1 APN 13 40,296,314 (GRCm39) missense possibly damaging 0.56
LCD18:Ofcc1 UTSW 13 40,246,443 (GRCm39) intron probably benign
R0122:Ofcc1 UTSW 13 40,434,032 (GRCm39) splice site probably null
R0320:Ofcc1 UTSW 13 40,360,172 (GRCm39) missense probably benign 0.01
R0386:Ofcc1 UTSW 13 40,367,950 (GRCm39) nonsense probably null
R0390:Ofcc1 UTSW 13 40,168,789 (GRCm39) missense possibly damaging 0.85
R0829:Ofcc1 UTSW 13 40,362,305 (GRCm39) missense probably benign 0.00
R0866:Ofcc1 UTSW 13 40,362,305 (GRCm39) missense probably benign 0.00
R0945:Ofcc1 UTSW 13 40,362,305 (GRCm39) missense probably benign 0.00
R0981:Ofcc1 UTSW 13 40,226,174 (GRCm39) missense probably damaging 1.00
R1055:Ofcc1 UTSW 13 40,362,305 (GRCm39) missense probably benign 0.00
R1056:Ofcc1 UTSW 13 40,362,305 (GRCm39) missense probably benign 0.00
R1186:Ofcc1 UTSW 13 40,362,305 (GRCm39) missense probably benign 0.00
R1187:Ofcc1 UTSW 13 40,362,305 (GRCm39) missense probably benign 0.00
R1400:Ofcc1 UTSW 13 40,362,305 (GRCm39) missense probably benign 0.00
R1411:Ofcc1 UTSW 13 40,296,263 (GRCm39) missense probably benign 0.02
R1419:Ofcc1 UTSW 13 40,362,305 (GRCm39) missense probably benign 0.00
R1474:Ofcc1 UTSW 13 40,362,305 (GRCm39) missense probably benign 0.00
R1636:Ofcc1 UTSW 13 40,333,904 (GRCm39) missense possibly damaging 0.86
R1691:Ofcc1 UTSW 13 40,362,305 (GRCm39) missense probably benign 0.00
R1886:Ofcc1 UTSW 13 40,360,100 (GRCm39) missense possibly damaging 0.88
R1887:Ofcc1 UTSW 13 40,360,100 (GRCm39) missense possibly damaging 0.88
R2176:Ofcc1 UTSW 13 40,250,595 (GRCm39) missense probably benign
R2189:Ofcc1 UTSW 13 40,333,924 (GRCm39) missense probably benign
R2242:Ofcc1 UTSW 13 40,296,263 (GRCm39) missense probably benign 0.02
R2255:Ofcc1 UTSW 13 40,248,181 (GRCm39) missense probably damaging 0.99
R2471:Ofcc1 UTSW 13 40,250,501 (GRCm39) missense probably damaging 1.00
R2863:Ofcc1 UTSW 13 40,241,414 (GRCm39) missense possibly damaging 0.56
R2863:Ofcc1 UTSW 13 40,226,236 (GRCm39) missense probably damaging 1.00
R4366:Ofcc1 UTSW 13 40,168,937 (GRCm39) missense probably benign 0.18
R4573:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
R4574:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
R4656:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
R4657:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
R4673:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
R4782:Ofcc1 UTSW 13 40,155,368 (GRCm39) splice site probably null
R4790:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
R4823:Ofcc1 UTSW 13 40,433,949 (GRCm39) missense probably damaging 0.99
R4840:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
R4842:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
R4889:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
R4919:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
R4920:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
R4921:Ofcc1 UTSW 13 40,367,993 (GRCm39) missense probably benign 0.10
R4948:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
R4953:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
R4961:Ofcc1 UTSW 13 40,417,035 (GRCm39) critical splice donor site probably null
R5339:Ofcc1 UTSW 13 40,241,321 (GRCm39) missense probably benign 0.35
R5512:Ofcc1 UTSW 13 40,360,286 (GRCm39) missense probably benign 0.20
R5566:Ofcc1 UTSW 13 40,248,129 (GRCm39) missense probably damaging 1.00
R5672:Ofcc1 UTSW 13 40,433,905 (GRCm39) missense probably damaging 0.98
R5734:Ofcc1 UTSW 13 40,241,325 (GRCm39) missense probably damaging 1.00
R5839:Ofcc1 UTSW 13 40,434,021 (GRCm39) missense probably damaging 1.00
R5853:Ofcc1 UTSW 13 40,360,193 (GRCm39) missense probably benign 0.00
R5896:Ofcc1 UTSW 13 40,334,060 (GRCm39) missense probably benign 0.01
R5909:Ofcc1 UTSW 13 40,417,054 (GRCm39) missense possibly damaging 0.92
R5995:Ofcc1 UTSW 13 40,433,898 (GRCm39) missense probably damaging 1.00
R6306:Ofcc1 UTSW 13 40,302,052 (GRCm39) missense probably benign
R6460:Ofcc1 UTSW 13 40,441,455 (GRCm39) missense probably damaging 0.99
R6504:Ofcc1 UTSW 13 40,250,531 (GRCm39) missense probably damaging 1.00
R6797:Ofcc1 UTSW 13 40,241,423 (GRCm39) missense possibly damaging 0.75
R7091:Ofcc1 UTSW 13 40,226,243 (GRCm39) missense probably damaging 0.99
R7098:Ofcc1 UTSW 13 40,157,442 (GRCm39) critical splice donor site probably null
R7142:Ofcc1 UTSW 13 40,157,538 (GRCm39) missense probably benign 0.00
R7240:Ofcc1 UTSW 13 40,362,317 (GRCm39) missense probably benign
R7589:Ofcc1 UTSW 13 40,408,960 (GRCm39) missense probably benign 0.13
R7792:Ofcc1 UTSW 13 40,296,302 (GRCm39) missense probably damaging 0.99
R7852:Ofcc1 UTSW 13 40,333,915 (GRCm39) missense probably damaging 1.00
R7951:Ofcc1 UTSW 13 40,433,781 (GRCm39) missense probably benign
R7952:Ofcc1 UTSW 13 40,433,781 (GRCm39) missense probably benign
R8751:Ofcc1 UTSW 13 40,409,072 (GRCm39) missense probably benign 0.17
R8991:Ofcc1 UTSW 13 40,296,277 (GRCm39) missense probably benign 0.07
R9119:Ofcc1 UTSW 13 40,334,016 (GRCm39) missense probably benign 0.02
R9290:Ofcc1 UTSW 13 40,433,802 (GRCm39) missense possibly damaging 0.86
X0005:Ofcc1 UTSW 13 40,434,008 (GRCm39) missense probably benign 0.00
X0005:Ofcc1 UTSW 13 40,296,266 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGCATCAGGTTTAAGTTCACAC -3'
(R):5'- CGTGGAAAATTGACTTTGTTCCTG -3'

Sequencing Primer
(F):5'- GGTTTAAGTTCACACATTTAAGAACG -3'
(R):5'- GTGCACGATTACATCTGC -3'
Posted On 2016-03-01