Mutagenetix > Incidental Mutation

Incidental Mutation 'R5672:Ofcc1'

442689

Institutional Source

Beutler Lab

Gene Symbol

Ofcc1

Ensembl Gene

ENSMUSG00000047094

Gene Name

orofacial cleft 1 candidate 1

Synonyms

Opo, ojoplano

MMRRC Submission

043174-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5672 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40155358-40514926 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40433905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 67 (H67Y)

Ref Sequence

ENSEMBL: ENSMUSP00000153579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054635] [ENSMUST00000224813] [ENSMUST00000224909]

AlphaFold

Q8BGX4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054635
AA Change: H67Y

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: H67Y

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 damaging
Transcript: ENSMUST00000224813
AA Change: H67Y

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224909
AA Change: H67Y

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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
A4gnt	A	G	9: 99,502,383 (GRCm39)	N181S	possibly damaging	Het
Abcf3	A	T	16: 20,368,002 (GRCm39)	Q74L	probably benign	Het
Ankrd13c	T	C	3: 157,666,664 (GRCm39)		probably null	Het
Bub1	A	G	2: 127,646,800 (GRCm39)	F827L	possibly damaging	Het
Cfap68	T	C	9: 50,675,227 (GRCm39)	T67A	probably benign	Het
Cyp2c55	A	G	19: 39,023,990 (GRCm39)	I355V	probably benign	Het
Dido1	A	G	2: 180,313,696 (GRCm39)	S319P	probably damaging	Het
Efna5	A	T	17: 63,188,025 (GRCm39)	V34D	probably damaging	Het
Fam131a	G	T	16: 20,518,389 (GRCm39)	E88D	probably damaging	Het
Fsip2	A	T	2: 82,817,838 (GRCm39)	R4524*	probably null	Het
Gm6899	C	T	11: 26,543,484 (GRCm39)		probably benign	Het
Iqcg	C	T	16: 32,839,878 (GRCm39)	R356Q	probably damaging	Het
Itgae	T	A	11: 73,036,377 (GRCm39)	I1105N	possibly damaging	Het
Klb	T	C	5: 65,537,292 (GRCm39)	I874T	possibly damaging	Het
Klc3	T	C	7: 19,130,256 (GRCm39)	Y307C	probably damaging	Het
Lrp1b	T	A	2: 41,231,771 (GRCm39)	H378L	probably benign	Het
Mxd4	G	A	5: 34,335,044 (GRCm39)	R114C	probably damaging	Het
Nrdc	A	T	4: 108,895,242 (GRCm39)	R241*	probably null	Het
Or10ak9	A	G	4: 118,726,379 (GRCm39)	T134A	possibly damaging	Het
Or5p5	A	G	7: 107,413,844 (GRCm39)	T18A	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Pard3b	G	T	1: 62,049,625 (GRCm39)	A128S	probably benign	Het
Plat	T	C	8: 23,263,664 (GRCm39)	Y188H	probably benign	Het
Pop1	A	G	15: 34,530,325 (GRCm39)	K908E	possibly damaging	Het
Pten	A	G	19: 32,735,866 (GRCm39)	I8V	probably benign	Het
Pwwp2a	C	T	11: 43,596,968 (GRCm39)	A436V	probably damaging	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Sdk1	T	C	5: 142,173,900 (GRCm39)	C2023R	possibly damaging	Het
Serpina1d	A	C	12: 103,730,101 (GRCm39)	D360E	possibly damaging	Het
Serpinb9b	A	G	13: 33,223,582 (GRCm39)	D258G	probably benign	Het
Smgc	G	A	15: 91,726,108 (GRCm39)	S18N	possibly damaging	Het
Snx27	A	T	3: 94,410,157 (GRCm39)		probably null	Het
Spem1	T	G	11: 69,712,263 (GRCm39)	K134Q	probably damaging	Het
Srgap3	T	A	6: 112,752,522 (GRCm39)	M321L	probably benign	Het
Tanc1	T	C	2: 59,602,697 (GRCm39)	C163R	possibly damaging	Het
Ube2ql1	A	T	13: 69,887,446 (GRCm39)	L5H	unknown	Het
Ubn2	T	C	6: 38,438,462 (GRCm39)	I225T	probably damaging	Het
Vmn1r181	A	C	7: 23,683,741 (GRCm39)	T69P	probably damaging	Het
Vmn2r110	A	G	17: 20,816,494 (GRCm39)	F10L	probably benign	Het
Yeats2	T	C	16: 19,980,779 (GRCm39)	M236T	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CACAGAAGCTGTACAGGCAC -3'
(R):5'- AGGACGATACACTTGAGTCTTTC -3'

Sequencing Primer
(F):5'- AAGCTGTACAGGCACGCTTG -3'
(R):5'- ACACTTGAGTCTTTCTGCACAAG -3'

Posted On

2016-11-09