Incidental Mutation 'R2189:Ofcc1'
ID 237989
Institutional Source Beutler Lab
Gene Symbol Ofcc1
Ensembl Gene ENSMUSG00000047094
Gene Name orofacial cleft 1 candidate 1
Synonyms Opo, ojoplano
MMRRC Submission 040191-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2189 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 40155358-40514926 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40333924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 389 (Q389L)
Ref Sequence ENSEMBL: ENSMUSP00000062217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054635] [ENSMUST00000224909]
AlphaFold Q8BGX4
Predicted Effect probably benign
Transcript: ENSMUST00000054635
AA Change: Q389L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: Q389L

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G C 7: 78,747,839 (GRCm39) G870A probably damaging Het
Adamtsl2 T C 2: 26,971,750 (GRCm39) W12R probably benign Het
Bsph1 G A 7: 13,204,254 (GRCm39) probably null Het
Celsr1 G T 15: 85,863,431 (GRCm39) H1200Q possibly damaging Het
Clptm1 A T 7: 19,371,070 (GRCm39) Y355* probably null Het
Cry2 T C 2: 92,242,037 (GRCm39) E572G possibly damaging Het
Dlk1 G A 12: 109,420,975 (GRCm39) probably null Het
Eral1 A G 11: 77,966,657 (GRCm39) V201A probably benign Het
Esrp1 A T 4: 11,357,603 (GRCm39) M503K probably benign Het
Fam83e G T 7: 45,371,607 (GRCm39) M1I probably null Het
Flt4 G A 11: 49,526,525 (GRCm39) A835T probably benign Het
H2bc15 A G 13: 21,938,447 (GRCm39) D52G probably damaging Het
Hdac4 T C 1: 91,903,244 (GRCm39) S562G probably null Het
Icosl A G 10: 77,909,759 (GRCm39) T235A possibly damaging Het
Itga6 A G 2: 71,655,961 (GRCm39) D295G probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lipa A T 19: 34,502,199 (GRCm39) L15Q probably benign Het
Mcc T C 18: 44,667,297 (GRCm39) E218G possibly damaging Het
Mdga2 A G 12: 66,519,970 (GRCm39) probably null Het
Mmadhc A C 2: 50,178,958 (GRCm39) C153W probably damaging Het
Myh1 A G 11: 67,112,430 (GRCm39) D1799G probably damaging Het
Nlrp1b T A 11: 71,060,621 (GRCm39) Q729L probably damaging Het
Or52b2 A G 7: 104,986,809 (GRCm39) V38A probably benign Het
Or5m5 A G 2: 85,814,412 (GRCm39) D76G probably damaging Het
Or5p4 A T 7: 107,680,243 (GRCm39) M81L possibly damaging Het
Or5p50 T C 7: 107,421,822 (GRCm39) I285V probably benign Het
Pml T C 9: 58,142,157 (GRCm39) N225S probably benign Het
Rnf213 A G 11: 119,321,187 (GRCm39) E1215G probably benign Het
Scap T A 9: 110,206,761 (GRCm39) I402N probably damaging Het
Sgsm2 A G 11: 74,743,908 (GRCm39) L886P probably damaging Het
Sugct T C 13: 17,836,851 (GRCm39) I104V probably benign Het
Tmem200c A G 17: 69,147,681 (GRCm39) Q88R probably damaging Het
Tnfrsf1a T A 6: 125,334,768 (GRCm39) L14Q probably benign Het
Tnk2 C T 16: 32,490,239 (GRCm39) L381F probably damaging Het
Ubr2 C T 17: 47,254,290 (GRCm39) V1454I probably benign Het
V1ra8 A C 6: 90,179,944 (GRCm39) D49A probably damaging Het
Vmn2r5 A C 3: 64,417,014 (GRCm39) M48R probably benign Het
Yars1 A G 4: 129,099,982 (GRCm39) I227V probably damaging Het
Zfp850 C A 7: 27,688,480 (GRCm39) R576L probably benign Het
Zfpm2 T A 15: 40,964,579 (GRCm39) F223I possibly 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
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
R4834:Ofcc1 UTSW 13 40,168,864 (GRCm39) missense probably damaging 1.00
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'- AGGCACTCCAGGAAATACTTG -3'
(R):5'- TCCTCAAAGGAAAGCCGTG -3'

Sequencing Primer
(F):5'- GGCACTCCAGGAAATACTTGAAATTG -3'
(R):5'- AAAGCCGTGAAGCCTGGC -3'
Posted On 2014-10-02