Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03133

Quality Score

Status

Chromosome

Chromosomal Location

40155358-40514926 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40226244 bp (GRCm39)

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]

AlphaFold

Q8BGX4

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: 77,161,730 (GRCm39)		probably benign	Het
Ano5	C	T	7: 51,226,260 (GRCm39)	R505*	probably null	Het
Asphd1	A	G	7: 126,547,452 (GRCm39)	C284R	possibly damaging	Het
Cep192	T	A	18: 67,943,176 (GRCm39)	W158R	probably benign	Het
Ces2h	T	A	8: 105,743,411 (GRCm39)	D188E	probably damaging	Het
Dab1	G	A	4: 104,584,777 (GRCm39)	V306I	probably benign	Het
Dcc	A	G	18: 71,396,026 (GRCm39)		probably benign	Het
Dennd6b	T	A	15: 89,072,726 (GRCm39)		probably null	Het
Dmwd	T	A	7: 18,810,562 (GRCm39)	V123D	probably damaging	Het
Eno1	A	G	4: 150,329,801 (GRCm39)		probably benign	Het
Fat2	G	A	11: 55,176,869 (GRCm39)	T1542I	probably benign	Het
Fcrl1	T	C	3: 87,296,699 (GRCm39)	S274P	probably benign	Het
Gmpr	T	C	13: 45,670,494 (GRCm39)	V72A	probably benign	Het
Kank2	T	C	9: 21,706,937 (GRCm39)	E27G	probably null	Het
Mtor	G	T	4: 148,568,776 (GRCm39)	A1099S	probably benign	Het
Or5m10	G	T	2: 85,717,478 (GRCm39)	E111D	probably damaging	Het
Or5p63	G	T	7: 107,811,594 (GRCm39)	S47R	possibly damaging	Het
Or8b12i	T	A	9: 20,082,009 (GRCm39)	N286I	probably damaging	Het
Or8k27	A	G	2: 86,276,002 (GRCm39)	I108T	probably damaging	Het
Piwil1	C	A	5: 128,819,093 (GRCm39)	H201N	probably benign	Het
Slc26a7	C	T	4: 14,532,576 (GRCm39)	V433M	possibly damaging	Het
Spata31d1c	T	C	13: 65,182,799 (GRCm39)	Y114H	probably benign	Het
Stx7	A	T	10: 24,060,936 (GRCm39)	N221I	probably damaging	Het
Tbc1d31	A	T	15: 57,805,855 (GRCm39)		probably benign	Het
Ubxn7	T	G	16: 32,200,599 (GRCm39)	L393R	probably damaging	Het
Vit	A	T	17: 78,873,500 (GRCm39)	M59L	probably benign	Het
Vmn1r5	T	A	6: 56,962,600 (GRCm39)	C92S	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
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

2016-08-02