Mutagenetix > Incidental Mutation

Incidental Mutation 'R7952:Ofcc1'

649629

Institutional Source

Beutler Lab

Gene Symbol

Ofcc1

Ensembl Gene

ENSMUSG00000047094

Gene Name

orofacial cleft 1 candidate 1

Synonyms

Opo, ojoplano

MMRRC Submission

045996-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7952 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40155358-40514926 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40433781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 108 (R108Q)

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

Domain	Start	End	E-Value	Type
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: ENSMUST00000224813
AA Change: R108Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000224909

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (47/48)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	C	1: 180,579,903 (GRCm39)	S516P	possibly damaging	Het
Adora1	A	G	1: 134,131,024 (GRCm39)	S216P	possibly damaging	Het
Arhgap17	G	T	7: 122,885,914 (GRCm39)	S739R	probably benign	Het
Bphl	A	G	13: 34,230,780 (GRCm39)	T75A	probably benign	Het
Ccdc73	G	A	2: 104,775,801 (GRCm39)		probably null	Het
Cela3b	T	C	4: 137,149,219 (GRCm39)	I262V	probably benign	Het
Chpf	T	C	1: 75,455,586 (GRCm39)	N55S	probably benign	Het
Chst8	A	G	7: 34,374,919 (GRCm39)	Y307H	probably damaging	Het
Cmtm2b	G	T	8: 105,057,203 (GRCm39)	E188*	probably null	Het
Cmya5	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	13: 93,233,512 (GRCm39)		probably benign	Het
Cxadr	C	T	16: 78,131,123 (GRCm39)	T213M	possibly damaging	Het
D3Ertd751e	T	A	3: 41,703,096 (GRCm39)		probably null	Het
Dhx32	T	C	7: 133,350,725 (GRCm39)	Y115C	probably benign	Het
Dop1b	C	A	16: 93,546,848 (GRCm39)	T284K	possibly damaging	Het
Dync2h1	A	G	9: 7,129,802 (GRCm39)	V1732A	possibly damaging	Het
Egf	C	T	3: 129,533,645 (GRCm39)	R65Q	probably damaging	Het
Fat4	T	G	3: 38,945,870 (GRCm39)	S1588A	probably damaging	Het
Fmnl3	A	G	15: 99,220,518 (GRCm39)	V588A	probably damaging	Het
Galnt3	C	T	2: 65,928,186 (GRCm39)	E237K	probably benign	Het
Grik2	T	C	10: 49,298,633 (GRCm39)	I363V	probably benign	Het
Grik3	C	T	4: 125,598,340 (GRCm39)	T769I	probably damaging	Het
Hpd	A	T	5: 123,316,327 (GRCm39)	D141E	possibly damaging	Het
Hrc	A	T	7: 44,985,692 (GRCm39)	D281V	probably damaging	Het
Igfn1	A	T	1: 135,891,693 (GRCm39)	I2274K	probably damaging	Het
Iqgap3	A	G	3: 88,005,677 (GRCm39)	I502V	probably benign	Het
Kcnh8	A	T	17: 53,266,493 (GRCm39)	Q835L	probably benign	Het
Kmt2d	C	T	15: 98,748,649 (GRCm39)	G2892R	unknown	Het
Lama4	T	G	10: 38,906,486 (GRCm39)	I284S	probably benign	Het
Madd	C	A	2: 90,992,886 (GRCm39)	G1011V	probably damaging	Het
Mroh2b	T	C	15: 4,980,693 (GRCm39)	F1421L	probably damaging	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nedd9	C	A	13: 41,470,431 (GRCm39)	D241Y	probably damaging	Het
Notch2	T	C	3: 98,007,552 (GRCm39)	V434A	probably benign	Het
Or10al2	T	C	17: 37,983,708 (GRCm39)	Y265H	probably damaging	Het
Or51g1	A	G	7: 102,633,721 (GRCm39)	F217L	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pramel41	T	C	5: 94,594,902 (GRCm39)	V254A	probably benign	Het
Prss55	A	G	14: 64,313,132 (GRCm39)	Y251H	probably damaging	Het
Rec8	T	C	14: 55,862,760 (GRCm39)	V573A	possibly damaging	Het
Ryr2	T	C	13: 11,661,313 (GRCm39)		probably null	Het
Sec31b	A	G	19: 44,508,979 (GRCm39)	S667P	probably benign	Het
Smim17	A	G	7: 6,427,849 (GRCm39)	D45G	possibly damaging	Het
Sspo	A	G	6: 48,464,263 (GRCm39)	T3906A	probably damaging	Het
Tanc2	G	T	11: 105,787,423 (GRCm39)	G908W	probably damaging	Het
Tcf7l2	A	T	19: 55,886,989 (GRCm39)	M1L	probably benign	Het
Tpx2	C	T	2: 152,735,514 (GRCm39)	A714V	probably damaging	Het
Trgc4	T	A	13: 19,533,740 (GRCm39)	S121R		Het
Trmt1	G	A	8: 85,415,969 (GRCm39)	R9H	possibly damaging	Het
Unc13a	A	T	8: 72,111,131 (GRCm39)	V360E	possibly damaging	Het
Vmn1r225	T	A	17: 20,722,589 (GRCm39)	I10N	probably damaging	Het
Xkr4	A	G	1: 3,740,842 (GRCm39)	S244P	possibly damaging	Het
Zkscan14	G	T	5: 145,132,708 (GRCm39)	H274Q	probably damaging	Het

Other mutations in Ofcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Posted On

2020-09-15