Incidental Mutation 'R7240:Ofcc1'
ID 563161
Institutional Source Beutler Lab
Gene Symbol Ofcc1
Ensembl Gene ENSMUSG00000047094
Gene Name orofacial cleft 1 candidate 1
Synonyms Opo, ojoplano
MMRRC Submission 045347-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7240 (G1)
Quality Score 224.009
Status Not validated
Chromosome 13
Chromosomal Location 40001882-40361450 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40208841 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 202 (C202R)
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: C202R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: C202R

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 unknown
Transcript: ENSMUST00000224909
AA Change: V176A
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (50/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210017I01Rik A G 3: 92,605,075 (GRCm38) I59T unknown Het
Aspm C T 1: 139,478,651 (GRCm38) Q1759* probably null Het
Atn1 A T 6: 124,747,898 (GRCm38) I124K unknown Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,397,572 (GRCm38) probably benign Het
Ccdc88c C T 12: 100,944,939 (GRCm38) V879M probably benign Het
Cd300c A G 11: 114,959,783 (GRCm38) C65R possibly damaging Het
Cd69 A T 6: 129,270,042 (GRCm38) S112T possibly damaging Het
Cdh19 T C 1: 110,893,407 (GRCm38) T534A probably benign Het
Cdk5rap2 T A 4: 70,291,908 (GRCm38) D701V probably damaging Het
D130052B06Rik A G 11: 33,623,874 (GRCm38) H157R possibly damaging Het
Dpf1 T A 7: 29,311,627 (GRCm38) F150L probably benign Het
Dsg1c T C 18: 20,283,109 (GRCm38) L689P probably damaging Het
Dstyk G A 1: 132,454,123 (GRCm38) M538I probably benign Het
E4f1 T A 17: 24,444,325 (GRCm38) I669F probably damaging Het
Gm7138 T C 10: 77,776,755 (GRCm38) T64A unknown Het
Gnai2 A C 9: 107,615,773 (GRCm38) D310E Het
Iqca A G 1: 90,070,550 (GRCm38) V567A possibly damaging Het
Iqgap1 A T 7: 80,759,839 (GRCm38) N249K probably benign Het
Lamc1 A G 1: 153,234,650 (GRCm38) V1093A possibly damaging Het
Mfap3 A G 11: 57,529,756 (GRCm38) K188E probably damaging Het
N4bp2 T A 5: 65,794,545 (GRCm38) V431D probably damaging Het
Notch4 A G 17: 34,576,471 (GRCm38) T792A probably benign Het
Ntn4 A G 10: 93,745,741 (GRCm38) H592R probably damaging Het
Olfr13 A G 6: 43,174,501 (GRCm38) K172E probably benign Het
Olfr418 T C 1: 173,270,994 (GRCm38) I273T probably benign Het
Olfr476 T C 7: 107,968,188 (GRCm38) S264P probably benign Het
Olfr497 A G 7: 108,422,933 (GRCm38) M121V probably damaging Het
Olfr922 A G 9: 38,815,713 (GRCm38) D70G probably benign Het
Olfr938 A T 9: 39,078,610 (GRCm38) M45K probably damaging Het
Parpbp G A 10: 88,124,940 (GRCm38) T228I probably damaging Het
Pcdhgb8 G A 18: 37,763,703 (GRCm38) V609M probably damaging Het
Pla2g4d T C 2: 120,270,349 (GRCm38) N543S probably damaging Het
Puf60 A G 15: 76,072,539 (GRCm38) probably benign Het
Rbm6 A T 9: 107,852,896 (GRCm38) D184E probably damaging Het
Rnase9 A C 14: 51,038,979 (GRCm38) S181A probably benign Het
Rnpc3 T A 3: 113,616,831 (GRCm38) R270S probably damaging Het
Rundc1 T C 11: 101,431,548 (GRCm38) probably null Het
Ryr1 T C 7: 29,052,015 (GRCm38) S3715G possibly damaging Het
Scn3a A T 2: 65,469,042 (GRCm38) D1373E possibly damaging Het
Serpina3k T G 12: 104,340,602 (GRCm38) I31S probably benign Het
Sipa1l2 A G 8: 125,469,860 (GRCm38) F712L probably damaging Het
Slc22a29 A G 19: 8,161,511 (GRCm38) V529A probably damaging Het
Tdrd3 A G 14: 87,458,803 (GRCm38) N58S probably benign Het
Tmc2 C T 2: 130,234,804 (GRCm38) T350I possibly damaging Het
Tpst2 T C 5: 112,307,678 (GRCm38) C28R probably benign Het
Trbv21 A T 6: 41,202,958 (GRCm38) K69N probably benign Het
Trpm2 A G 10: 77,935,876 (GRCm38) probably null Het
Ttn A G 2: 76,848,990 (GRCm38) V10796A unknown Het
Ush2a A G 1: 188,911,661 (GRCm38) T4407A possibly damaging Het
Vmn2r95 A G 17: 18,451,963 (GRCm38) H726R probably benign Het
Zfp777 A G 6: 48,044,449 (GRCm38) S80P probably benign Het
Other mutations in Ofcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Ofcc1 APN 13 40,142,804 (GRCm38) missense probably damaging 0.97
IGL00489:Ofcc1 APN 13 40,280,491 (GRCm38) missense probably damaging 1.00
IGL01952:Ofcc1 APN 13 40,280,861 (GRCm38) missense probably damaging 1.00
IGL02126:Ofcc1 APN 13 40,208,775 (GRCm38) missense probably benign
IGL02619:Ofcc1 APN 13 40,097,077 (GRCm38) missense possibly damaging 0.68
IGL03069:Ofcc1 APN 13 40,072,664 (GRCm38) missense probably benign 0.38
IGL03133:Ofcc1 APN 13 40,072,768 (GRCm38) missense probably benign 0.36
IGL03273:Ofcc1 APN 13 40,180,525 (GRCm38) missense probably damaging 1.00
IGL03343:Ofcc1 APN 13 40,072,664 (GRCm38) missense probably benign 0.38
IGL03349:Ofcc1 APN 13 40,072,752 (GRCm38) missense probably benign 0.13
IGL03399:Ofcc1 APN 13 40,142,838 (GRCm38) missense possibly damaging 0.56
LCD18:Ofcc1 UTSW 13 40,092,967 (GRCm38) intron probably benign
R0122:Ofcc1 UTSW 13 40,280,556 (GRCm38) splice site probably null
R0320:Ofcc1 UTSW 13 40,206,696 (GRCm38) missense probably benign 0.01
R0386:Ofcc1 UTSW 13 40,214,474 (GRCm38) nonsense probably null
R0390:Ofcc1 UTSW 13 40,015,313 (GRCm38) missense possibly damaging 0.85
R0829:Ofcc1 UTSW 13 40,208,829 (GRCm38) missense probably benign 0.00
R0866:Ofcc1 UTSW 13 40,208,829 (GRCm38) missense probably benign 0.00
R0945:Ofcc1 UTSW 13 40,208,829 (GRCm38) missense probably benign 0.00
R0981:Ofcc1 UTSW 13 40,072,698 (GRCm38) missense probably damaging 1.00
R1055:Ofcc1 UTSW 13 40,208,829 (GRCm38) missense probably benign 0.00
R1056:Ofcc1 UTSW 13 40,208,829 (GRCm38) missense probably benign 0.00
R1186:Ofcc1 UTSW 13 40,208,829 (GRCm38) missense probably benign 0.00
R1187:Ofcc1 UTSW 13 40,208,829 (GRCm38) missense probably benign 0.00
R1400:Ofcc1 UTSW 13 40,208,829 (GRCm38) missense probably benign 0.00
R1411:Ofcc1 UTSW 13 40,142,787 (GRCm38) missense probably benign 0.02
R1419:Ofcc1 UTSW 13 40,208,829 (GRCm38) missense probably benign 0.00
R1474:Ofcc1 UTSW 13 40,208,829 (GRCm38) missense probably benign 0.00
R1636:Ofcc1 UTSW 13 40,180,428 (GRCm38) missense possibly damaging 0.86
R1691:Ofcc1 UTSW 13 40,208,829 (GRCm38) missense probably benign 0.00
R1886:Ofcc1 UTSW 13 40,206,624 (GRCm38) missense possibly damaging 0.88
R1887:Ofcc1 UTSW 13 40,206,624 (GRCm38) missense possibly damaging 0.88
R2176:Ofcc1 UTSW 13 40,097,119 (GRCm38) missense probably benign
R2189:Ofcc1 UTSW 13 40,180,448 (GRCm38) missense probably benign
R2242:Ofcc1 UTSW 13 40,142,787 (GRCm38) missense probably benign 0.02
R2255:Ofcc1 UTSW 13 40,094,705 (GRCm38) missense probably damaging 0.99
R2471:Ofcc1 UTSW 13 40,097,025 (GRCm38) missense probably damaging 1.00
R2863:Ofcc1 UTSW 13 40,087,938 (GRCm38) missense possibly damaging 0.56
R2863:Ofcc1 UTSW 13 40,072,760 (GRCm38) missense probably damaging 1.00
R4366:Ofcc1 UTSW 13 40,015,461 (GRCm38) missense probably benign 0.18
R4573:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4574:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4656:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4657:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4673:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4782:Ofcc1 UTSW 13 40,001,892 (GRCm38) splice site probably null
R4790:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4823:Ofcc1 UTSW 13 40,280,473 (GRCm38) missense probably damaging 0.99
R4834:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4840:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4842:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4889:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4919:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4920:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4921:Ofcc1 UTSW 13 40,214,517 (GRCm38) missense probably benign 0.10
R4948:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4953:Ofcc1 UTSW 13 40,015,388 (GRCm38) missense probably damaging 1.00
R4961:Ofcc1 UTSW 13 40,263,559 (GRCm38) critical splice donor site probably null
R5339:Ofcc1 UTSW 13 40,087,845 (GRCm38) missense probably benign 0.35
R5512:Ofcc1 UTSW 13 40,206,810 (GRCm38) missense probably benign 0.20
R5566:Ofcc1 UTSW 13 40,094,653 (GRCm38) missense probably damaging 1.00
R5672:Ofcc1 UTSW 13 40,280,429 (GRCm38) missense probably damaging 0.98
R5734:Ofcc1 UTSW 13 40,087,849 (GRCm38) missense probably damaging 1.00
R5839:Ofcc1 UTSW 13 40,280,545 (GRCm38) missense probably damaging 1.00
R5853:Ofcc1 UTSW 13 40,206,717 (GRCm38) missense probably benign 0.00
R5896:Ofcc1 UTSW 13 40,180,584 (GRCm38) missense probably benign 0.01
R5909:Ofcc1 UTSW 13 40,263,578 (GRCm38) missense possibly damaging 0.92
R5995:Ofcc1 UTSW 13 40,280,422 (GRCm38) missense probably damaging 1.00
R6306:Ofcc1 UTSW 13 40,148,576 (GRCm38) missense probably benign
R6460:Ofcc1 UTSW 13 40,287,979 (GRCm38) missense probably damaging 0.99
R6504:Ofcc1 UTSW 13 40,097,055 (GRCm38) missense probably damaging 1.00
R6797:Ofcc1 UTSW 13 40,087,947 (GRCm38) missense possibly damaging 0.75
R7091:Ofcc1 UTSW 13 40,072,767 (GRCm38) missense probably damaging 0.99
R7098:Ofcc1 UTSW 13 40,003,966 (GRCm38) critical splice donor site probably null
R7142:Ofcc1 UTSW 13 40,004,062 (GRCm38) missense probably benign 0.00
R7589:Ofcc1 UTSW 13 40,255,484 (GRCm38) missense probably benign 0.13
R7792:Ofcc1 UTSW 13 40,142,826 (GRCm38) missense probably damaging 0.99
R7852:Ofcc1 UTSW 13 40,180,439 (GRCm38) missense probably damaging 1.00
R7951:Ofcc1 UTSW 13 40,280,305 (GRCm38) missense probably benign
R7952:Ofcc1 UTSW 13 40,280,305 (GRCm38) missense probably benign
R8751:Ofcc1 UTSW 13 40,255,596 (GRCm38) missense probably benign 0.17
R8991:Ofcc1 UTSW 13 40,142,801 (GRCm38) missense probably benign 0.07
R9119:Ofcc1 UTSW 13 40,180,540 (GRCm38) missense probably benign 0.02
R9290:Ofcc1 UTSW 13 40,280,326 (GRCm38) missense possibly damaging 0.86
X0005:Ofcc1 UTSW 13 40,280,532 (GRCm38) missense probably benign 0.00
X0005:Ofcc1 UTSW 13 40,142,790 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGCATTTGGCCTGTGTACGG -3'
(R):5'- TCAGACTATCTTGCAGATCTGG -3'

Sequencing Primer
(F):5'- TTCTCTCAAGAAAAGCTTAGGAGG -3'
(R):5'- AGGCTTTATGCTTCATTTTC -3'
Posted On 2019-06-26