Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03133:Ofcc1'

410405

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03133

Quality Score

Status

Chromosome

Chromosomal Location

40001882-40361450 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40072768 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 763 (I763V)

Ref Sequence

ENSEMBL: ENSMUSP00000062217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054635] [ENSMUST00000224909]

Predicted Effect

probably benign
Transcript: ENSMUST00000054635
AA Change: I763V

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: I763V

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,896		probably benign	Het
Ano5	C	T	7: 51,576,512	R505*	probably null	Het
Asphd1	A	G	7: 126,948,280	C284R	possibly damaging	Het
Cep192	T	A	18: 67,810,105	W158R	probably benign	Het
Ces2h	T	A	8: 105,016,779	D188E	probably damaging	Het
Dab1	G	A	4: 104,727,580	V306I	probably benign	Het
Dcc	A	G	18: 71,262,955		probably benign	Het
Dennd6b	T	A	15: 89,188,523		probably null	Het
Dmwd	T	A	7: 19,076,637	V123D	probably damaging	Het
Eno1	A	G	4: 150,245,344		probably benign	Het
Fat2	G	A	11: 55,286,043	T1542I	probably benign	Het
Fcrl1	T	C	3: 87,389,392	S274P	probably benign	Het
Gmpr	T	C	13: 45,517,018	V72A	probably benign	Het
Kank2	T	C	9: 21,795,641	E27G	probably null	Het
Mtor	G	T	4: 148,484,319	A1099S	probably benign	Het
Olfr1023	G	T	2: 85,887,134	E111D	probably damaging	Het
Olfr1065	A	G	2: 86,445,658	I108T	probably damaging	Het
Olfr487	G	T	7: 108,212,387	S47R	possibly damaging	Het
Olfr870	T	A	9: 20,170,713	N286I	probably damaging	Het
Piwil1	C	A	5: 128,742,029	H201N	probably benign	Het
Slc26a7	C	T	4: 14,532,576	V433M	possibly damaging	Het
Spata31d1c	T	C	13: 65,034,985	Y114H	probably benign	Het
Stx7	A	T	10: 24,185,038	N221I	probably damaging	Het
Tbc1d31	A	T	15: 57,942,459		probably benign	Het
Ubxn7	T	G	16: 32,381,781	L393R	probably damaging	Het
Vit	A	T	17: 78,566,071	M59L	probably benign	Het
Vmn1r5	T	A	6: 56,985,615	C92S	probably benign	Het

Other mutations in Ofcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Ofcc1	APN	13	40142804	missense	probably damaging	0.97
IGL00489:Ofcc1	APN	13	40280491	missense	probably damaging	1.00
IGL01952:Ofcc1	APN	13	40280861	missense	probably damaging	1.00
IGL02126:Ofcc1	APN	13	40208775	missense	probably benign
IGL02619:Ofcc1	APN	13	40097077	missense	possibly damaging	0.68
IGL03069:Ofcc1	APN	13	40072664	missense	probably benign	0.38
IGL03273:Ofcc1	APN	13	40180525	missense	probably damaging	1.00
IGL03343:Ofcc1	APN	13	40072664	missense	probably benign	0.38
IGL03349:Ofcc1	APN	13	40072752	missense	probably benign	0.13
IGL03399:Ofcc1	APN	13	40142838	missense	possibly damaging	0.56
LCD18:Ofcc1	UTSW	13	40092967	intron	probably benign
R0122:Ofcc1	UTSW	13	40280556	splice site	probably null
R0320:Ofcc1	UTSW	13	40206696	missense	probably benign	0.01
R0386:Ofcc1	UTSW	13	40214474	nonsense	probably null
R0390:Ofcc1	UTSW	13	40015313	missense	possibly damaging	0.85
R0829:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R0866:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R0945:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R0981:Ofcc1	UTSW	13	40072698	missense	probably damaging	1.00
R1055:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1056:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1186:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1187:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1400:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1411:Ofcc1	UTSW	13	40142787	missense	probably benign	0.02
R1419:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1474:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1636:Ofcc1	UTSW	13	40180428	missense	possibly damaging	0.86
R1691:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1886:Ofcc1	UTSW	13	40206624	missense	possibly damaging	0.88
R1887:Ofcc1	UTSW	13	40206624	missense	possibly damaging	0.88
R2176:Ofcc1	UTSW	13	40097119	missense	probably benign
R2189:Ofcc1	UTSW	13	40180448	missense	probably benign
R2242:Ofcc1	UTSW	13	40142787	missense	probably benign	0.02
R2255:Ofcc1	UTSW	13	40094705	missense	probably damaging	0.99
R2471:Ofcc1	UTSW	13	40097025	missense	probably damaging	1.00
R2863:Ofcc1	UTSW	13	40072760	missense	probably damaging	1.00
R2863:Ofcc1	UTSW	13	40087938	missense	possibly damaging	0.56
R4366:Ofcc1	UTSW	13	40015461	missense	probably benign	0.18
R4573:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4574:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4656:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4657:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4673:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4782:Ofcc1	UTSW	13	40001892	splice site	probably null
R4790:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4823:Ofcc1	UTSW	13	40280473	missense	probably damaging	0.99
R4834:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4840:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4842:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4889:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4919:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4920:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4921:Ofcc1	UTSW	13	40214517	missense	probably benign	0.10
R4948:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4953:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4961:Ofcc1	UTSW	13	40263559	critical splice donor site	probably null
R5339:Ofcc1	UTSW	13	40087845	missense	probably benign	0.35
R5512:Ofcc1	UTSW	13	40206810	missense	probably benign	0.20
R5566:Ofcc1	UTSW	13	40094653	missense	probably damaging	1.00
R5672:Ofcc1	UTSW	13	40280429	missense	probably damaging	0.98
R5734:Ofcc1	UTSW	13	40087849	missense	probably damaging	1.00
R5839:Ofcc1	UTSW	13	40280545	missense	probably damaging	1.00
R5853:Ofcc1	UTSW	13	40206717	missense	probably benign	0.00
R5896:Ofcc1	UTSW	13	40180584	missense	probably benign	0.01
R5909:Ofcc1	UTSW	13	40263578	missense	possibly damaging	0.92
R5995:Ofcc1	UTSW	13	40280422	missense	probably damaging	1.00
R6306:Ofcc1	UTSW	13	40148576	missense	probably benign
R6460:Ofcc1	UTSW	13	40287979	missense	probably damaging	0.99
R6504:Ofcc1	UTSW	13	40097055	missense	probably damaging	1.00
R6797:Ofcc1	UTSW	13	40087947	missense	possibly damaging	0.75
R7091:Ofcc1	UTSW	13	40072767	missense	probably damaging	0.99
R7098:Ofcc1	UTSW	13	40003966	critical splice donor site	probably null
R7142:Ofcc1	UTSW	13	40004062	missense	probably benign	0.00
R7240:Ofcc1	UTSW	13	40208841	missense	probably benign
R7589:Ofcc1	UTSW	13	40255484	missense	probably benign	0.13
R7792:Ofcc1	UTSW	13	40142826	missense	probably damaging	0.99
R7852:Ofcc1	UTSW	13	40180439	missense	probably damaging	1.00
R7951:Ofcc1	UTSW	13	40280305	missense	probably benign
R7952:Ofcc1	UTSW	13	40280305	missense	probably benign
X0005:Ofcc1	UTSW	13	40142790	missense	probably benign	0.01
X0005:Ofcc1	UTSW	13	40280532	missense	probably benign	0.00

Posted On

2016-08-02