Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00160:Ofcc1'

1029

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ofcc1

Ensembl Gene

ENSMUSG00000047094

Gene Name

orofacial cleft 1 candidate 1

Synonyms

Opo, ojoplano

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00160

Quality Score

Status

Chromosome

Chromosomal Location

40155358-40514926 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40296280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 518 (D518G)

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: D518G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: D518G

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: ENSMUST00000224909

Coding Region Coverage

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,563,219 (GRCm39)	A387V	probably benign	Het
Adamts3	C	T	5: 90,009,184 (GRCm39)	V160I	probably damaging	Het
Arhgef26	T	C	3: 62,247,804 (GRCm39)	V296A	probably benign	Het
Bdp1	A	T	13: 100,197,706 (GRCm39)	M893K	probably benign	Het
Camk2d	T	A	3: 126,631,921 (GRCm39)	C407*	probably null	Het
Ces1h	T	C	8: 94,084,091 (GRCm39)	D373G	probably benign	Het
Ces2f	A	T	8: 105,676,605 (GRCm39)	N100Y	probably damaging	Het
Ces2f	A	T	8: 105,676,604 (GRCm39)	Q99H	probably damaging	Het
Dlg5	T	C	14: 24,241,229 (GRCm39)	T223A	probably damaging	Het
Dnai7	T	A	6: 145,121,016 (GRCm39)	H601L	probably benign	Het
Dnmt3l	A	G	10: 77,893,189 (GRCm39)	D322G	probably damaging	Het
Fam243	T	C	16: 92,117,890 (GRCm39)	K133E	possibly damaging	Het
Fbxl20	C	T	11: 97,981,500 (GRCm39)	G396D	possibly damaging	Het
Garre1	G	A	7: 33,938,431 (GRCm39)	H1035Y	possibly damaging	Het
Gldc	T	C	19: 30,092,640 (GRCm39)	T760A	probably damaging	Het
Gm6483	T	A	8: 19,741,663 (GRCm39)		noncoding transcript	Het
Hcrtr2	A	T	9: 76,135,437 (GRCm39)	V460D	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mrgpra2a	A	T	7: 47,076,286 (GRCm39)	M324K	probably damaging	Het
N4bp3	C	T	11: 51,536,143 (GRCm39)	A230T	probably benign	Het
Nphs1	T	G	7: 30,181,976 (GRCm39)	W1204G	possibly damaging	Het
Obscn	C	A	11: 58,892,883 (GRCm39)	A6788S	probably benign	Het
Optc	T	C	1: 133,829,846 (GRCm39)	Y188C	probably damaging	Het
Prss45	C	A	9: 110,670,073 (GRCm39)	A285E	probably damaging	Het
Rcan2	C	T	17: 44,347,960 (GRCm39)	T223I	possibly damaging	Het
Snrnp70	A	G	7: 45,026,778 (GRCm39)		probably null	Het
Sorbs1	T	A	19: 40,306,473 (GRCm39)	T1064S	probably damaging	Het
Sptb	T	C	12: 76,669,943 (GRCm39)	K462E	probably damaging	Het
Sstr1	A	G	12: 58,259,536 (GRCm39)	E53G	probably benign	Het
Stxbp2	A	T	8: 3,686,354 (GRCm39)		probably null	Het
Tex35	G	A	1: 156,927,326 (GRCm39)		probably benign	Het
Thnsl1	T	C	2: 21,217,260 (GRCm39)	F338S	possibly damaging	Het
Trpv1	C	T	11: 73,151,188 (GRCm39)	A424V	probably damaging	Het
Unc80	A	T	1: 66,693,554 (GRCm39)	H2535L	possibly damaging	Het
Usp46	T	C	5: 74,163,347 (GRCm39)	E333G	probably null	Het
Vmn1r27	T	C	6: 58,192,119 (GRCm39)	Y245C	probably benign	Het
Zfp488	T	C	14: 33,693,026 (GRCm39)	M46V	probably benign	Het
Zfp566	G	T	7: 29,777,936 (GRCm39)	Q82K	probably benign	Het
Znhit6	T	C	3: 145,283,915 (GRCm39)	S62P	probably damaging	Het
Znrf3	T	C	11: 5,239,039 (GRCm39)	H108R	probably damaging	Het

Other mutations in Ofcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2011-07-12