Mutagenetix > Incidental Mutation

Incidental Mutation 'R0981:Ofcc1'

97197

Institutional Source

Beutler Lab

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 #

R0981 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40001882-40361450 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40072698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 786 (I786T)

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: I786T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: I786T

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: 99.5%
3x: 98.4%
10x: 95.4%
20x: 89.6%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,520,331	C942S	probably damaging	Het
Alpk1	T	C	3: 127,679,402	N984S	possibly damaging	Het
Ankrd55	T	C	13: 112,323,076	V68A	possibly damaging	Het
Asap2	T	C	12: 21,265,960	S960P	probably damaging	Het
Atp2b1	T	A	10: 99,015,629	N66K	probably damaging	Het
Cckar	C	T	5: 53,706,290	G39R	probably damaging	Het
Col11a1	G	A	3: 114,138,765	R113H	unknown	Het
Cpb1	C	A	3: 20,275,490	R24L	probably benign	Het
Dlg5	T	G	14: 24,154,631	R1258S	probably damaging	Het
Fam71e2	T	A	7: 4,757,589		probably null	Het
Fanci	A	G	7: 79,405,166	Q148R	probably benign	Het
Fcgbp	T	A	7: 28,085,110	Y198*	probably null	Het
Gapt	G	C	13: 110,353,739	T130R	probably damaging	Het
Glis1	A	G	4: 107,615,042	E272G	probably damaging	Het
Gm13741	T	C	2: 87,656,234	N229S	probably benign	Het
Gsdmc4	T	A	15: 63,892,073	I392F	probably damaging	Het
H2-M2	T	C	17: 37,482,630	T162A	probably benign	Het
Hk2	G	A	6: 82,743,968	R190W	probably damaging	Het
Irf1	T	C	11: 53,773,722	*52R	probably null	Het
Lman2l	T	A	1: 36,445,233	M1L	unknown	Het
Mgat1	C	T	11: 49,261,055	R122C	probably damaging	Het
Mtrf1	T	C	14: 79,401,590	L54S	probably benign	Het
Myo5c	A	T	9: 75,271,591	L676F	probably damaging	Het
Odf3	A	G	7: 140,848,295	M7V	probably benign	Het
Olfr488	AGGT	A	7: 108,256,021		probably benign	Het
Olfr488	GGTAG	GG	7: 108,256,022		probably benign	Het
Pfn1	G	A	11: 70,652,138	R137C	probably benign	Het
Pgbd5	G	A	8: 124,384,293	R129*	probably null	Het
Pibf1	T	C	14: 99,150,743		probably null	Het
Pkd2l1	A	G	19: 44,154,422		probably null	Het
Plin5	C	A	17: 56,114,020	R215L	probably damaging	Het
Prrc2c	C	T	1: 162,705,981		probably benign	Het
Rnasel	T	G	1: 153,759,599	C608G	probably benign	Het
Slc28a2	T	A	2: 122,450,984	V218D	probably damaging	Het
Snx1	T	C	9: 66,109,559	I29V	probably benign	Het
Tenm3	A	G	8: 48,298,965	W939R	probably damaging	Het
Tmem237	C	A	1: 59,118,005	R15L	probably damaging	Het
Tmx3	T	C	18: 90,537,200	V347A	probably benign	Het
Vmn1r191	T	C	13: 22,179,219	T122A	probably benign	Het
Wdfy4	G	T	14: 33,147,092	N326K	probably benign	Het
Zfp408	A	G	2: 91,645,183	L642P	probably benign	Het
Zfp808	C	A	13: 62,171,673	H239N	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
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
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'- AGAACAGCCTGAGCGAATGCAC -3'
(R):5'- GTCTGTTGGGCATCATAAGCTGGTC -3'

Sequencing Primer
(F):5'- TGCACAGCTTACTGATGCAG -3'
(R):5'- CCACAGTGAAGAAGGCAAGTTC -3'

Posted On

2014-01-05