Mutagenetix > Incidental Mutation

Incidental Mutation 'R2189:Ofcc1'

237989

Institutional Source

Beutler Lab

Gene Symbol

Ofcc1

Ensembl Gene

ENSMUSG00000047094

Gene Name

orofacial cleft 1 candidate 1

Synonyms

Opo, ojoplano

MMRRC Submission

040191-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2189 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40001882-40361450 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40180448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 389 (Q389L)

Ref Sequence

ENSEMBL: ENSMUSP00000062217 (fasta)

Gene Model

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

AlphaFold

Q8BGX4

Predicted Effect

probably benign
Transcript: ENSMUST00000054635
AA Change: Q389L

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

SMART Domains

Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: Q389L

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

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	C	7: 79,098,091	G870A	probably damaging	Het
Adamtsl2	T	C	2: 27,081,738	W12R	probably benign	Het
Bsph1	G	A	7: 13,470,329		probably null	Het
Celsr1	G	T	15: 85,979,230	H1200Q	possibly damaging	Het
Clptm1	A	T	7: 19,637,145	Y355*	probably null	Het
Cry2	T	C	2: 92,411,692	E572G	possibly damaging	Het
Dlk1	G	A	12: 109,455,049		probably null	Het
Eral1	A	G	11: 78,075,831	V201A	probably benign	Het
Esrp1	A	T	4: 11,357,603	M503K	probably benign	Het
Fam83e	G	T	7: 45,722,183	M1I	probably null	Het
Flt4	G	A	11: 49,635,698	A835T	probably benign	Het
Hdac4	T	C	1: 91,975,522	S562G	probably null	Het
Hist1h2bn	A	G	13: 21,754,277	D52G	probably damaging	Het
Icosl	A	G	10: 78,073,925	T235A	possibly damaging	Het
Itga6	A	G	2: 71,825,617	D295G	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lipa	A	T	19: 34,524,799	L15Q	probably benign	Het
Mcc	T	C	18: 44,534,230	E218G	possibly damaging	Het
Mdga2	A	G	12: 66,473,196		probably null	Het
Mmadhc	A	C	2: 50,288,946	C153W	probably damaging	Het
Myh1	A	G	11: 67,221,604	D1799G	probably damaging	Het
Nlrp1b	T	A	11: 71,169,795	Q729L	probably damaging	Het
Olfr1030	A	G	2: 85,984,068	D76G	probably damaging	Het
Olfr469	T	C	7: 107,822,615	I285V	probably benign	Het
Olfr481	A	T	7: 108,081,036	M81L	possibly damaging	Het
Olfr691	A	G	7: 105,337,602	V38A	probably benign	Het
Pml	T	C	9: 58,234,874	N225S	probably benign	Het
Rnf213	A	G	11: 119,430,361	E1215G	probably benign	Het
Scap	T	A	9: 110,377,693	I402N	probably damaging	Het
Sgsm2	A	G	11: 74,853,082	L886P	probably damaging	Het
Sugct	T	C	13: 17,662,266	I104V	probably benign	Het
Tmem200c	A	G	17: 68,840,686	Q88R	probably damaging	Het
Tnfrsf1a	T	A	6: 125,357,805	L14Q	probably benign	Het
Tnk2	C	T	16: 32,671,421	L381F	probably damaging	Het
Ubr2	C	T	17: 46,943,364	V1454I	probably benign	Het
V1ra8	A	C	6: 90,202,962	D49A	probably damaging	Het
Vmn2r5	A	C	3: 64,509,593	M48R	probably benign	Het
Yars	A	G	4: 129,206,189	I227V	probably damaging	Het
Zfp850	C	A	7: 27,989,055	R576L	probably benign	Het
Zfpm2	T	A	15: 41,101,183	F223I	possibly damaging	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
IGL03133:Ofcc1	APN	13	40072768	missense	probably benign	0.36
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
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
R8751:Ofcc1	UTSW	13	40255596	missense	probably benign	0.17
R8991:Ofcc1	UTSW	13	40142801	missense	probably benign	0.07
R9119:Ofcc1	UTSW	13	40180540	missense	probably benign	0.02
R9290:Ofcc1	UTSW	13	40280326	missense	possibly damaging	0.86
X0005:Ofcc1	UTSW	13	40142790	missense	probably benign	0.01
X0005:Ofcc1	UTSW	13	40280532	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGCACTCCAGGAAATACTTG -3'
(R):5'- TCCTCAAAGGAAAGCCGTG -3'

Sequencing Primer
(F):5'- GGCACTCCAGGAAATACTTGAAATTG -3'
(R):5'- AAAGCCGTGAAGCCTGGC -3'

Posted On

2014-10-02