Incidental Mutation 'IGL02619:Ofcc1'
ID300797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ofcc1
Ensembl Gene ENSMUSG00000047094
Gene Nameorofacial cleft 1 candidate 1
SynonymsOpo, ojoplano
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02619
Quality Score
Status
Chromosome13
Chromosomal Location40001882-40361450 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 40097077 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 588 (V588M)
Ref Sequence ENSEMBL: ENSMUSP00000062217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054635] [ENSMUST00000224909]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054635
AA Change: V588M

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: V588M

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
Coding Region Coverage
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 C T 1: 179,792,451 G220E possibly damaging Het
Arhgef10l A G 4: 140,594,193 I101T probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Camkk2 A T 5: 122,764,235 C4S probably damaging Het
Ccdc174 T A 6: 91,899,557 D458E possibly damaging Het
Cercam A G 2: 29,880,674 N419S probably benign Het
Clca3a2 T C 3: 144,806,322 N551S probably damaging Het
Cldn18 T A 9: 99,698,935 I87F probably damaging Het
Ctso T A 3: 81,941,529 probably benign Het
Ddhd2 C A 8: 25,746,954 probably null Het
Dscaml1 T A 9: 45,447,796 Y118N probably damaging Het
Ece1 C T 4: 137,938,733 A296V probably benign Het
Fbxo40 T A 16: 36,970,404 I115F possibly damaging Het
Fkbp9 T A 6: 56,850,624 N143K probably damaging Het
Foxk2 G T 11: 121,299,576 probably benign Het
Ggnbp1 A G 17: 27,029,555 K33E probably benign Het
Hace1 A T 10: 45,671,434 probably benign Het
Hk3 A T 13: 55,014,294 C133S probably damaging Het
Kbtbd3 C T 9: 4,331,252 A542V probably damaging Het
Lrch2 A C X: 147,480,541 V363G probably damaging Het
Lrch2 C T X: 147,519,135 C264Y probably damaging Het
Lrrc56 C A 7: 141,207,633 probably benign Het
Lrtm2 C T 6: 119,317,238 V311M probably damaging Het
N4bp1 G T 8: 86,860,901 Q470K probably benign Het
Naa15 A C 3: 51,460,131 D575A probably benign Het
Ncaph A T 2: 127,127,536 V69D probably damaging Het
Nlrp5 G A 7: 23,424,064 probably null Het
Nmbr A G 10: 14,760,587 D100G probably damaging Het
Olfr142 G T 2: 90,252,505 T161N probably damaging Het
Olfr481 C A 7: 108,081,742 probably benign Het
Osmr C A 15: 6,841,994 R314M probably damaging Het
Pcdhb16 C T 18: 37,478,217 Q77* probably null Het
Pglyrp4 G A 3: 90,735,648 probably null Het
Ptprh A G 7: 4,549,499 F922S probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rp1 T A 1: 4,348,450 Q813L possibly damaging Het
Sgtb A G 13: 104,118,414 N64S probably benign Het
Slc5a12 T C 2: 110,640,856 V481A probably benign Het
Slitrk1 A G 14: 108,911,917 V454A probably benign Het
Sntg2 C A 12: 30,267,026 probably null Het
Synj1 C T 16: 90,974,045 V499I probably damaging Het
Tmco1 T C 1: 167,326,028 probably benign Het
Tmem38b T C 4: 53,848,871 I92T probably damaging Het
Tmem9 T C 1: 136,027,407 V93A probably benign Het
Ttn T A 2: 76,795,238 R15080S possibly damaging Het
Ube2e3 T C 2: 78,918,721 I138T probably damaging Het
Urgcp A G 11: 5,715,752 I862T possibly damaging Het
Vmn1r68 A T 7: 10,527,676 I165N probably benign Het
Washc4 G A 10: 83,558,853 V316I possibly damaging Het
Zfp111 A T 7: 24,199,688 L166Q possibly damaging Het
Zfyve1 A T 12: 83,550,944 probably benign Het
Zscan18 A G 7: 12,774,866 probably benign Het
Other mutations in Ofcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Ofcc1 APN 13 40142804 missense probably damaging 0.97
IGL00489:Ofcc1 APN 13 40280491 missense probably damaging 1.00
IGL01952:Ofcc1 APN 13 40280861 missense probably damaging 1.00
IGL02126:Ofcc1 APN 13 40208775 missense probably benign
IGL03069:Ofcc1 APN 13 40072664 missense probably benign 0.38
IGL03133:Ofcc1 APN 13 40072768 missense probably benign 0.36
IGL03273:Ofcc1 APN 13 40180525 missense probably damaging 1.00
IGL03343:Ofcc1 APN 13 40072664 missense probably benign 0.38
IGL03349:Ofcc1 APN 13 40072752 missense probably benign 0.13
IGL03399:Ofcc1 APN 13 40142838 missense possibly damaging 0.56
LCD18:Ofcc1 UTSW 13 40092967 intron probably benign
R0122:Ofcc1 UTSW 13 40280556 splice site probably null
R0320:Ofcc1 UTSW 13 40206696 missense probably benign 0.01
R0386:Ofcc1 UTSW 13 40214474 nonsense probably null
R0390:Ofcc1 UTSW 13 40015313 missense possibly damaging 0.85
R0829:Ofcc1 UTSW 13 40208829 missense probably benign 0.00
R0866:Ofcc1 UTSW 13 40208829 missense probably benign 0.00
R0945:Ofcc1 UTSW 13 40208829 missense probably benign 0.00
R0981:Ofcc1 UTSW 13 40072698 missense probably damaging 1.00
R1055:Ofcc1 UTSW 13 40208829 missense probably benign 0.00
R1056:Ofcc1 UTSW 13 40208829 missense probably benign 0.00
R1186:Ofcc1 UTSW 13 40208829 missense probably benign 0.00
R1187:Ofcc1 UTSW 13 40208829 missense probably benign 0.00
R1400:Ofcc1 UTSW 13 40208829 missense probably benign 0.00
R1411:Ofcc1 UTSW 13 40142787 missense probably benign 0.02
R1419:Ofcc1 UTSW 13 40208829 missense probably benign 0.00
R1474:Ofcc1 UTSW 13 40208829 missense probably benign 0.00
R1636:Ofcc1 UTSW 13 40180428 missense possibly damaging 0.86
R1691:Ofcc1 UTSW 13 40208829 missense probably benign 0.00
R1886:Ofcc1 UTSW 13 40206624 missense possibly damaging 0.88
R1887:Ofcc1 UTSW 13 40206624 missense possibly damaging 0.88
R2176:Ofcc1 UTSW 13 40097119 missense probably benign
R2189:Ofcc1 UTSW 13 40180448 missense probably benign
R2242:Ofcc1 UTSW 13 40142787 missense probably benign 0.02
R2255:Ofcc1 UTSW 13 40094705 missense probably damaging 0.99
R2471:Ofcc1 UTSW 13 40097025 missense probably damaging 1.00
R2863:Ofcc1 UTSW 13 40072760 missense probably damaging 1.00
R2863:Ofcc1 UTSW 13 40087938 missense possibly damaging 0.56
R4366:Ofcc1 UTSW 13 40015461 missense probably benign 0.18
R4573:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4574:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4656:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4657:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4673:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4782:Ofcc1 UTSW 13 40001892 synonymous probably null
R4790:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4823:Ofcc1 UTSW 13 40280473 missense probably damaging 0.99
R4834:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4840:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4842:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4889:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4919:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4920:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4921:Ofcc1 UTSW 13 40214517 missense probably benign 0.10
R4948:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4953:Ofcc1 UTSW 13 40015388 missense probably damaging 1.00
R4961:Ofcc1 UTSW 13 40263559 critical splice donor site probably null
R5339:Ofcc1 UTSW 13 40087845 missense probably benign 0.35
R5512:Ofcc1 UTSW 13 40206810 missense probably benign 0.20
R5566:Ofcc1 UTSW 13 40094653 missense probably damaging 1.00
R5672:Ofcc1 UTSW 13 40280429 missense probably damaging 0.98
R5734:Ofcc1 UTSW 13 40087849 missense probably damaging 1.00
R5839:Ofcc1 UTSW 13 40280545 missense probably damaging 1.00
R5853:Ofcc1 UTSW 13 40206717 missense probably benign 0.00
R5896:Ofcc1 UTSW 13 40180584 missense probably benign 0.01
R5909:Ofcc1 UTSW 13 40263578 missense possibly damaging 0.92
R5995:Ofcc1 UTSW 13 40280422 missense probably damaging 1.00
R6306:Ofcc1 UTSW 13 40148576 missense probably benign
R6460:Ofcc1 UTSW 13 40287979 missense probably damaging 0.99
R6504:Ofcc1 UTSW 13 40097055 missense probably damaging 1.00
R6797:Ofcc1 UTSW 13 40087947 missense possibly damaging 0.75
R7091:Ofcc1 UTSW 13 40072767 missense probably damaging 0.99
R7098:Ofcc1 UTSW 13 40003966 critical splice donor site probably null
R7142:Ofcc1 UTSW 13 40004062 missense probably benign 0.00
R7240:Ofcc1 UTSW 13 40208841 missense probably benign
X0005:Ofcc1 UTSW 13 40142790 missense probably benign 0.01
X0005:Ofcc1 UTSW 13 40280532 missense probably benign 0.00
Posted On2015-04-16