Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03349:Ofcc1'

419623

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 #

IGL03349

Quality Score

Status

Chromosome

Chromosomal Location

40155358-40514926 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40226228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 768 (G768D)

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: G768D

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: G768D

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,629,455 (GRCm39)	Y3648H	probably benign	Het
Akr1c20	T	A	13: 4,558,249 (GRCm39)	R172*	probably null	Het
Apba1	A	T	19: 23,894,939 (GRCm39)	E458D	probably benign	Het
Atg2a	T	A	19: 6,308,054 (GRCm39)	V1590D	possibly damaging	Het
Atp13a4	A	G	16: 29,275,489 (GRCm39)	S332P	probably benign	Het
Atp8b2	A	T	3: 89,865,124 (GRCm39)	F163I	probably damaging	Het
Azin2	A	T	4: 128,839,907 (GRCm39)	Y228*	probably null	Het
Cd109	C	T	9: 78,543,767 (GRCm39)	H104Y	probably benign	Het
Ces2a	G	T	8: 105,460,712 (GRCm39)	L3F	probably damaging	Het
Crebbp	A	G	16: 3,935,222 (GRCm39)	V889A	possibly damaging	Het
Crim1	A	T	17: 78,662,579 (GRCm39)	K801*	probably null	Het
Cxcr1	T	C	1: 74,231,687 (GRCm39)	T112A	possibly damaging	Het
Cyp1a2	A	G	9: 57,587,158 (GRCm39)	S378P	possibly damaging	Het
Cyp2c67	T	C	19: 39,632,128 (GRCm39)	Y80C	probably damaging	Het
Dennd4a	T	C	9: 64,796,256 (GRCm39)	W761R	probably damaging	Het
Dgki	C	T	6: 37,074,562 (GRCm39)		probably null	Het
Dnase1l3	T	C	14: 7,984,146 (GRCm38)	T89A	probably benign	Het
Dock4	C	A	12: 40,783,309 (GRCm39)	Q748K	probably benign	Het
Elmo3	A	G	8: 106,033,020 (GRCm39)	E68G	possibly damaging	Het
Fer1l4	C	A	2: 155,886,654 (GRCm39)	E692*	probably null	Het
Fkbp9	T	A	6: 56,826,703 (GRCm39)	M101K	probably damaging	Het
Grin1	C	A	2: 25,200,448 (GRCm39)	V225L	probably benign	Het
Gucy2d	T	C	7: 98,099,048 (GRCm39)	V288A	possibly damaging	Het
Heatr5b	C	A	17: 79,062,749 (GRCm39)	K1933N	probably benign	Het
Hsdl1	A	T	8: 120,292,436 (GRCm39)	S260T	probably benign	Het
Hspg2	T	C	4: 137,287,833 (GRCm39)		probably benign	Het
Ift172	A	T	5: 31,441,474 (GRCm39)	V220E	probably benign	Het
Igkv12-47	C	T	6: 69,727,850 (GRCm39)		noncoding transcript	Het
Ism1	C	T	2: 139,573,895 (GRCm39)	R82*	probably null	Het
Lrch3	A	G	16: 32,775,694 (GRCm39)	T187A	probably damaging	Het
Ltbr	T	A	6: 125,289,329 (GRCm39)	D160V	probably damaging	Het
Lypd11	T	A	7: 24,422,261 (GRCm39)	S163C	probably damaging	Het
Mark3	A	T	12: 111,594,684 (GRCm39)	K353I	probably benign	Het
Mrm3	A	T	11: 76,140,772 (GRCm39)	H260L	probably damaging	Het
Nckap1	T	C	2: 80,355,904 (GRCm39)	Q627R	probably benign	Het
Neb	T	A	2: 52,168,964 (GRCm39)	Y1857F	possibly damaging	Het
Ntsr1	A	G	2: 180,142,295 (GRCm39)	T29A	probably benign	Het
Or5k17	T	C	16: 58,746,323 (GRCm39)	M204V	probably benign	Het
Pde8b	T	C	13: 95,179,551 (GRCm39)		probably benign	Het
Pld4	A	T	12: 112,734,313 (GRCm39)	Q393L	probably benign	Het
Prss23	T	C	7: 89,159,065 (GRCm39)	I335V	probably benign	Het
Prune2	A	G	19: 17,100,710 (GRCm39)	I2071M	probably damaging	Het
Ptprz1	T	A	6: 23,000,331 (GRCm39)	V807E	probably damaging	Het
Rnf20	G	A	4: 49,655,936 (GRCm39)	A961T	probably damaging	Het
Slc25a24	A	G	3: 109,056,865 (GRCm39)	Q126R	possibly damaging	Het
Slc35e1	A	T	8: 73,237,696 (GRCm39)	Y382N	probably damaging	Het
Snrpn	C	T	7: 59,635,613 (GRCm39)	G129D	probably damaging	Het
Spag9	A	T	11: 93,984,335 (GRCm39)	N386I	possibly damaging	Het
Ssna1	T	C	2: 25,161,542 (GRCm39)	N102D	possibly damaging	Het
Tex21	A	T	12: 76,268,365 (GRCm39)	I139N	probably benign	Het
Trgc2	T	A	13: 19,489,346 (GRCm39)	T129S	probably benign	Het
Trim21	T	C	7: 102,212,484 (GRCm39)	T161A	probably benign	Het
Vmn2r82	T	A	10: 79,213,703 (GRCm39)	H96Q	probably benign	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
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

2016-08-02