Incidental Mutation 'R4574:Ofcc1'
ID 342350
Institutional Source Beutler Lab
Gene Symbol Ofcc1
Ensembl Gene ENSMUSG00000047094
Gene Name orofacial cleft 1 candidate 1
Synonyms Opo, ojoplano
MMRRC Submission 041797-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4574 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 40155358-40514926 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40168864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 841 (T841I)
Ref Sequence ENSEMBL: ENSMUSP00000062217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054635] [ENSMUST00000224909]
AlphaFold Q8BGX4
Predicted Effect probably damaging
Transcript: ENSMUST00000054635
AA Change: T841I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: T841I

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (63/65)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b A C 5: 121,638,856 (GRCm39) S730A probably benign Het
Adamts9 G A 6: 92,856,940 (GRCm39) R319* probably null Het
Anapc1 G T 2: 128,469,115 (GRCm39) S1575R probably damaging Het
Appbp2 A T 11: 85,100,764 (GRCm39) probably null Het
Bcas2 C T 3: 103,081,666 (GRCm39) P90S probably benign Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cd101 T C 3: 100,920,469 (GRCm39) N477D probably benign Het
Cdk12 A G 11: 98,111,814 (GRCm39) probably benign Het
Clcn4 T C 7: 7,290,804 (GRCm39) E634G probably benign Het
Cltb C T 13: 54,746,574 (GRCm39) R64H probably damaging Het
Cpt1b G T 15: 89,308,247 (GRCm39) probably null Het
Ctf2 T G 7: 127,318,556 (GRCm39) T148P possibly damaging Het
Ddx23 G A 15: 98,545,505 (GRCm39) T601I probably damaging Het
Dlx6 G T 6: 6,865,305 (GRCm39) probably benign Het
Dmrtb1 A T 4: 107,534,265 (GRCm39) N183K possibly damaging Het
Dnah11 A G 12: 117,975,990 (GRCm39) probably null Het
Dnah5 C T 15: 28,367,909 (GRCm39) P2765S probably benign Het
Dnah6 T A 6: 73,063,164 (GRCm39) N2698I probably damaging Het
Fpr-rs6 T A 17: 20,403,359 (GRCm39) M1L probably damaging Het
Gm4841 T C 18: 60,402,998 (GRCm39) N365S probably benign Het
Gsdmc2 C T 15: 63,699,872 (GRCm39) probably null Het
Irx5 G A 8: 93,084,890 (GRCm39) V27I probably damaging Het
Kmt2e T A 5: 23,697,405 (GRCm39) V101D possibly damaging Het
Maip1 A C 1: 57,452,404 (GRCm39) K219Q possibly damaging Het
Mpp7 G T 18: 7,353,228 (GRCm39) R493S probably benign Het
Ms4a14 T C 19: 11,281,335 (GRCm39) T408A probably benign Het
Mthfr A G 4: 148,127,998 (GRCm39) N117S possibly damaging Het
Mtres1 T A 10: 43,409,006 (GRCm39) S46C probably damaging Het
Myo5c A G 9: 75,176,893 (GRCm39) I613V probably benign Het
Neurl1b A G 17: 26,650,860 (GRCm39) Q44R probably benign Het
Nup54 T A 5: 92,573,641 (GRCm39) N187I probably benign Het
Or5ak22 C A 2: 85,230,370 (GRCm39) C169F probably damaging Het
Pate2 C A 9: 35,596,969 (GRCm39) probably benign Het
Pccb T C 9: 100,867,252 (GRCm39) S445G probably damaging Het
Pex3 G A 10: 13,411,315 (GRCm39) Q188* probably null Het
Pikfyve T A 1: 65,231,351 (GRCm39) W74R probably damaging Het
Plcl2 T C 17: 50,914,874 (GRCm39) S628P probably damaging Het
Pnldc1 T C 17: 13,111,669 (GRCm39) H346R probably benign Het
Pom121l2 T A 13: 22,168,572 (GRCm39) C948S probably benign Het
Pspc1 A T 14: 56,999,404 (GRCm39) M284K possibly damaging Het
Ralgapa2 A G 2: 146,277,919 (GRCm39) L414S probably damaging Het
Rgs13 T A 1: 144,016,583 (GRCm39) K53N probably damaging Het
Rorc T C 3: 94,296,291 (GRCm39) S163P probably benign Het
Rpl3l A C 17: 24,952,984 (GRCm39) T315P possibly damaging Het
Rsph3b A G 17: 7,172,438 (GRCm39) V487A probably benign Het
Rusc2 A G 4: 43,416,080 (GRCm39) E462G probably damaging Het
Sez6l T C 5: 112,576,344 (GRCm39) T838A probably damaging Het
Slc22a14 A G 9: 119,008,561 (GRCm39) Y236H probably damaging Het
Sspo G A 6: 48,442,457 (GRCm39) R1984H probably damaging Het
Steap3 G T 1: 120,169,186 (GRCm39) D370E probably benign Het
Sumf1 A G 6: 108,085,393 (GRCm39) probably benign Het
Telo2 T C 17: 25,320,647 (GRCm39) E754G probably damaging Het
Tjp1 A G 7: 64,972,353 (GRCm39) F604L probably damaging Het
Trpm7 A T 2: 126,639,131 (GRCm39) D1734E probably benign Het
Tsfm A C 10: 126,864,242 (GRCm39) Y158D probably damaging Het
Ubtf T C 11: 102,197,591 (GRCm39) probably benign Het
Upk3a G T 15: 84,904,752 (GRCm39) V167F possibly damaging Het
Vmn2r19 C T 6: 123,292,939 (GRCm39) S327L probably benign Het
Vps13c T A 9: 67,858,965 (GRCm39) I2805N probably damaging Het
Zfp592 A G 7: 80,673,534 (GRCm39) D166G 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
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
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'- GGCATCAGGTTTAAGTTCACAC -3'
(R):5'- GTGGAAAATTGACTTTGTTCCTGAC -3'

Sequencing Primer
(F):5'- GGTTTAAGTTCACACATTTAAGAACG -3'
(R):5'- GGCAGTGCACGATTACAT -3'
Posted On 2015-09-24