Incidental Mutation 'R4823:Ofcc1'
ID 371322
Institutional Source Beutler Lab
Gene Symbol Ofcc1
Ensembl Gene ENSMUSG00000047094
Gene Name orofacial cleft 1 candidate 1
Synonyms Opo, ojoplano
MMRRC Submission 042439-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4823 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 40155358-40514926 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40433949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 52 (H52L)
Ref Sequence ENSEMBL: ENSMUSP00000153016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054635] [ENSMUST00000224813] [ENSMUST00000224909]
AlphaFold Q8BGX4
Predicted Effect probably benign
Transcript: ENSMUST00000054635
AA Change: H52L

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: H52L

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 possibly damaging
Transcript: ENSMUST00000224813
AA Change: H52L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000224909
AA Change: H52L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 98% (96/98)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G A 5: 88,120,457 (GRCm39) D405N probably benign Het
4921517D22Rik T G 13: 59,838,718 (GRCm39) E38A probably damaging Het
4930433I11Rik A T 7: 40,642,786 (GRCm39) I152F probably benign Het
Aass A T 6: 23,107,690 (GRCm39) D364E probably benign Het
Adamts2 A G 11: 50,628,014 (GRCm39) D238G probably benign Het
Albfm1 T A 5: 90,714,362 (GRCm39) L124H probably benign Het
Aoc1l1 A G 6: 48,952,195 (GRCm39) D40G probably damaging Het
Aplf G A 6: 87,623,237 (GRCm39) L302F probably damaging Het
Apol7b G T 15: 77,311,982 (GRCm39) probably benign Het
Arhgef12 A G 9: 42,931,992 (GRCm39) V165A probably benign Het
Ascc3 T C 10: 50,589,329 (GRCm39) S1017P probably damaging Het
B230104I21Rik T A 4: 154,434,204 (GRCm39) probably benign Het
Bfsp2 C A 9: 103,357,082 (GRCm39) C115F probably damaging Het
Bhmt2 A T 13: 93,799,798 (GRCm39) W213R probably benign Het
Capn5 A T 7: 97,775,648 (GRCm39) V431E probably damaging Het
Ccdc88c A G 12: 100,896,802 (GRCm39) Y1390H probably damaging Het
Ccr3 A G 9: 123,828,718 (GRCm39) T18A probably damaging Het
Cdh5 T C 8: 104,869,301 (GRCm39) S676P probably benign Het
Ceacam5 A G 7: 17,491,669 (GRCm39) T680A possibly damaging Het
Cebpd G A 16: 15,705,978 (GRCm39) G264S probably benign Het
Cfd T C 10: 79,726,782 (GRCm39) V8A probably benign Het
Cops9 C T 1: 92,569,588 (GRCm39) probably benign Het
Cpne6 T C 14: 55,754,467 (GRCm39) Y533H probably damaging Het
Cyp2c67 T A 19: 39,604,168 (GRCm39) H396L probably benign Het
Cyp2j9 G A 4: 96,456,972 (GRCm39) P500S possibly damaging Het
Cyp4a12a A T 4: 115,184,610 (GRCm39) probably null Het
Dbt G A 3: 116,317,036 (GRCm39) D71N probably damaging Het
Ddx41 G T 13: 55,679,868 (GRCm39) Q440K probably benign Het
Elovl4 A G 9: 83,662,738 (GRCm39) F174S probably damaging Het
Emcn C G 3: 137,129,187 (GRCm39) P193R probably damaging Het
Etnk1 T C 6: 143,113,364 (GRCm39) probably null Het
Fads3 A C 19: 10,019,252 (GRCm39) S53R probably damaging Het
Fam193a A G 5: 34,616,372 (GRCm39) E849G probably damaging Het
Fat3 A G 9: 15,907,803 (GRCm39) V2733A probably benign Het
Frem3 T A 8: 81,340,587 (GRCm39) M960K probably benign Het
Frmd6 A T 12: 70,919,349 (GRCm39) I62L probably benign Het
Glmp T C 3: 88,232,530 (GRCm39) probably benign Het
Gm17421 T C 12: 113,333,161 (GRCm39) noncoding transcript Het
Gm27013 T A 6: 130,499,186 (GRCm39) noncoding transcript Het
Gtf2ird1 A G 5: 134,424,576 (GRCm39) V390A probably damaging Het
Hps3 A G 3: 20,066,890 (GRCm39) Y559H probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Itpr3 A G 17: 27,304,121 (GRCm39) D114G probably benign Het
Jmjd4 G A 11: 59,346,406 (GRCm39) A408T probably benign Het
Kcnh4 G T 11: 100,646,000 (GRCm39) A316D probably damaging Het
Klrg1 T A 6: 122,250,492 (GRCm39) probably null Het
Lancl2 T A 6: 57,709,262 (GRCm39) Y355N probably damaging Het
Ltb T C 17: 35,414,206 (GRCm39) S115P probably benign Het
Mccc2 T G 13: 100,136,762 (GRCm39) R64S probably benign Het
Mgam2-ps T A 6: 40,809,596 (GRCm39) noncoding transcript Het
Mrrf T G 2: 36,038,042 (GRCm39) N104K possibly damaging Het
Nipa1 C A 7: 55,629,436 (GRCm39) V226L possibly damaging Het
Numa1 T A 7: 101,645,244 (GRCm39) L290Q probably damaging Het
Ogfod3 G A 11: 121,086,027 (GRCm39) A189V probably benign Het
Or14c39 T A 7: 86,343,796 (GRCm39) I44N probably damaging Het
Or5b21 A T 19: 12,839,180 (GRCm39) I14F probably benign Het
Or5d46 A G 2: 88,170,179 (GRCm39) D90G probably damaging Het
Or9i1b G A 19: 13,897,022 (GRCm39) V213I probably benign Het
P2ry12 G A 3: 59,125,318 (GRCm39) S119L probably benign Het
Pde7b T A 10: 20,314,531 (GRCm39) N192Y probably damaging Het
Pfkl T C 10: 77,833,428 (GRCm39) N258S probably damaging Het
Phykpl G A 11: 51,477,420 (GRCm39) A71T probably damaging Het
Ppp1r16a T C 15: 76,577,393 (GRCm39) probably benign Het
Pramel15 T C 4: 144,099,781 (GRCm39) N328S possibly damaging Het
Pramel32 T C 4: 88,547,452 (GRCm39) K160R probably damaging Het
Prune2 C T 19: 17,097,868 (GRCm39) T1124M probably damaging Het
Rapgef6 A G 11: 54,585,326 (GRCm39) I1570V probably benign Het
Rbm34 T C 8: 127,697,655 (GRCm39) S19G probably benign Het
Rnf10 T C 5: 115,393,501 (GRCm39) probably null Het
Rnf34 A G 5: 122,988,365 (GRCm39) probably null Het
Setd4 A G 16: 93,386,838 (GRCm39) S287P probably benign Het
Shc3 C T 13: 51,605,606 (GRCm39) V225I probably benign Het
Sipa1l3 C T 7: 29,070,427 (GRCm39) V1030I probably damaging Het
Siva1 G T 12: 112,611,498 (GRCm39) R33L probably damaging Het
Slc4a5 C T 6: 83,249,115 (GRCm39) T573I probably damaging Het
Sorcs1 C T 19: 50,666,578 (GRCm39) R110Q possibly damaging Het
Sorcs1 T C 19: 50,218,740 (GRCm39) I581V possibly damaging Het
Sorl1 T C 9: 41,903,617 (GRCm39) D1545G probably damaging Het
Tas2r124 T G 6: 132,732,509 (GRCm39) S273A probably damaging Het
Tcf15 T C 2: 151,985,813 (GRCm39) F90L probably damaging Het
Trim59 G A 3: 68,944,453 (GRCm39) R296C probably benign Het
Tulp1 A T 17: 28,572,546 (GRCm39) D229E probably benign Het
Ush1c T A 7: 45,845,157 (GRCm39) N886I probably benign Het
Usp9y A T Y: 1,444,559 (GRCm39) S127T probably damaging Het
Vmn1r19 T A 6: 57,382,219 (GRCm39) Y257* probably null Het
Vmn2r109 A T 17: 20,774,153 (GRCm39) Y401N probably damaging Het
Vmn2r69 A C 7: 85,060,508 (GRCm39) S359A probably benign Het
Zfp37 A T 4: 62,109,740 (GRCm39) N479K probably benign 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
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'- AGGCACGCTTGAGTGGAATG -3'
(R):5'- TTGGTGACATTTGAGGACGATACAC -3'

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