Incidental Mutation 'R9290:Ofcc1'
ID 704230
Institutional Source Beutler Lab
Gene Symbol Ofcc1
Ensembl Gene ENSMUSG00000047094
Gene Name orofacial cleft 1 candidate 1
Synonyms Opo, ojoplano
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9290 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 40155358-40514926 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40433802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 101 (I101N)
Ref Sequence ENSEMBL: ENSMUSP00000153579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054635] [ENSMUST00000224813] [ENSMUST00000224909]
AlphaFold Q8BGX4
Predicted Effect probably benign
Transcript: ENSMUST00000054635
SMART Domains Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094

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: I101N

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000224909
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (67/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 A G 1: 156,457,538 (GRCm39) K268R probably damaging Het
Acvr1 T C 2: 58,338,330 (GRCm39) D464G probably damaging Het
Adra1d G T 2: 131,403,898 (GRCm39) T64K probably benign Het
Cct3 T C 3: 88,216,536 (GRCm39) V164A probably benign Het
Cdhr2 T C 13: 54,882,009 (GRCm39) V1153A possibly damaging Het
Cdkn2c A C 4: 109,518,512 (GRCm39) Y147* probably null Het
Ces1g A T 8: 94,029,545 (GRCm39) H562Q probably benign Het
Cfap221 A G 1: 119,853,381 (GRCm39) L771P probably benign Het
Chsy3 A G 18: 59,542,928 (GRCm39) M689V probably benign Het
Ciita T A 16: 10,326,513 (GRCm39) S235T probably damaging Het
Cracdl T A 1: 37,663,634 (GRCm39) R755W probably damaging Het
Dcdc2a A G 13: 25,386,313 (GRCm39) K396E probably benign Het
Dgki C T 6: 37,276,780 (GRCm39) C35Y unknown Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dnai7 T C 6: 145,148,688 (GRCm39) E57G unknown Het
Eif3a A G 19: 60,765,221 (GRCm39) V322A probably damaging Het
Foxp2 A T 6: 15,197,120 (GRCm39) Q54L possibly damaging Het
Garin2 T A 12: 78,759,028 (GRCm39) V116E possibly damaging Het
Gm19410 T A 8: 36,269,386 (GRCm39) C1074S probably damaging Het
Gtf3c3 T G 1: 54,477,997 (GRCm39) E26A possibly damaging Het
Hps5 T C 7: 46,424,331 (GRCm39) E514G probably damaging Het
Ide A T 19: 37,302,647 (GRCm39) D154E Het
Insm1 T C 2: 146,065,273 (GRCm39) V363A probably benign Het
Iqgap2 A T 13: 95,886,523 (GRCm39) M120K probably damaging Het
Kcnh5 T A 12: 75,023,488 (GRCm39) I527F probably benign Het
Lrtm2 A G 6: 119,297,792 (GRCm39) L83P probably damaging Het
Map1a A G 2: 121,131,014 (GRCm39) E372G probably damaging Het
Mycbp2 A T 14: 103,425,960 (GRCm39) H2421Q probably damaging Het
Myh15 A G 16: 48,997,375 (GRCm39) E1731G probably damaging Het
Myt1 A T 2: 181,437,667 (GRCm39) H168L probably benign Het
Nxph4 A T 10: 127,362,546 (GRCm39) V115E probably damaging Het
Oog2 T C 4: 143,923,015 (GRCm39) F427L probably benign Het
Or4c115 A G 2: 88,928,076 (GRCm39) L65P probably damaging Het
Or4f14b A T 2: 111,774,967 (GRCm39) I278N possibly damaging Het
Or5w11 A G 2: 87,459,209 (GRCm39) N18S probably benign Het
Or8b48 T C 9: 38,493,334 (GRCm39) S254P probably damaging Het
Or8g27 A G 9: 39,129,531 (GRCm39) R293G probably damaging Het
Otop1 T G 5: 38,455,302 (GRCm39) I232S probably benign Het
Pak6 G A 2: 118,523,883 (GRCm39) R346Q probably damaging Het
Pbk A T 14: 66,054,713 (GRCm39) M282L probably benign Het
Pmpcb T C 5: 21,944,009 (GRCm39) probably null Het
Pou5f2 T A 13: 78,173,585 (GRCm39) W176R probably damaging Het
Prkra G T 2: 76,478,147 (GRCm39) S18R probably benign Het
Prune2 G T 19: 17,145,691 (GRCm39) A2764S probably benign Het
Ptpdc1 A T 13: 48,740,221 (GRCm39) D403E probably benign Het
Pxylp1 T C 9: 96,722,089 (GRCm39) E54G probably damaging Het
Rap1gap G A 4: 137,446,222 (GRCm39) A325T probably damaging Het
Raver2 G A 4: 100,977,387 (GRCm39) probably benign Het
Rbpj T C 5: 53,810,745 (GRCm39) V455A probably damaging Het
Rptor A T 11: 119,702,823 (GRCm39) I397F probably benign Het
Sacs G A 14: 61,421,499 (GRCm39) M148I probably benign Het
Sec16b A G 1: 157,373,816 (GRCm39) Q496R probably damaging Het
Sned1 C A 1: 93,199,385 (GRCm39) C488* probably null Het
Snupn G T 9: 56,882,547 (GRCm39) V187F possibly damaging Het
Sorcs2 T C 5: 36,183,225 (GRCm39) D1016G probably damaging Het
Spta1 T C 1: 174,045,204 (GRCm39) M1517T possibly damaging Het
Them4 G T 3: 94,231,630 (GRCm39) G156C probably damaging Het
Tnik T C 3: 28,675,124 (GRCm39) S721P probably benign Het
Trpm8 T C 1: 88,246,767 (GRCm39) S26P probably damaging Het
Ube2e3 A G 2: 78,750,324 (GRCm39) I183M probably damaging Het
Uhrf2 A G 19: 30,055,416 (GRCm39) Y389C probably damaging Het
Utp4 T A 8: 107,642,828 (GRCm39) D495E possibly damaging Het
Vill C A 9: 118,890,562 (GRCm39) N158K probably benign Het
Vmn1r219 G A 13: 23,347,399 (GRCm39) G196E probably damaging Het
Vmn2r101 C T 17: 19,811,395 (GRCm39) S493L probably benign Het
Vmn2r61 A G 7: 41,915,385 (GRCm39) T111A probably benign Het
Zbtb40 G T 4: 136,745,529 (GRCm39) A168E probably benign Het
Zscan18 A T 7: 12,508,054 (GRCm39) I482N 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
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
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'- CATTCATTGCAGGACTTGTTCATC -3'
(R):5'- AGGTTTTAACATGAGCAGCCC -3'

Sequencing Primer
(F):5'- GCAGGACTTGTTCATCTTAACCG -3'
(R):5'- GGTTTTAACATGAGCAGCCCAGAAC -3'
Posted On 2022-03-25