Mutagenetix > Incidental Mutation

Incidental Mutation 'LCD18:Ofcc1'

478217

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 #

LCD18 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

40155358-40514926 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 40246443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153016 (fasta)

Gene Model

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

AlphaFold

Q8BGX4

Predicted Effect

probably benign
Transcript: ENSMUST00000054635

SMART Domains

Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094

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: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

88% (169/191)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	A	G	8: 100,450,057 (GRCm39)		noncoding transcript	Het
Aff2	C	A	X: 68,791,141 (GRCm39)		probably benign	Het
Aldh1a1	C	A	19: 20,604,010 (GRCm39)		probably benign	Het
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Het
Apba2	A	T	7: 64,271,908 (GRCm39)		probably benign	Het
Apc2	G	C	10: 80,135,808 (GRCm39)		probably benign	Het
App	C	G	16: 84,822,300 (GRCm39)		probably benign	Het
Asic2	C	A	11: 80,876,570 (GRCm39)		probably benign	Het
Btk	T	C	X: 133,479,574 (GRCm39)		probably benign	Het
Car12	C	A	9: 66,668,958 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Het
Ccdc191	G	A	16: 43,742,164 (GRCm39)		probably benign	Het
Ccdc34	N		2: 110,016,318 (GRCm38)		probably benign	Het
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Het
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Het
Cdv3	C	A	9: 103,242,553 (GRCm39)		probably benign	Het
Cdv3	A	T	9: 103,242,542 (GRCm39)		probably benign	Het
Celf2	N		2: 6,779,076 (GRCm38)		probably benign	Het
Cfap299	G	A	5: 98,855,367 (GRCm39)		probably benign	Het
Clec18a	C	A	8: 111,802,768 (GRCm39)		probably benign	Het
Cnpy3	GGATGGAT	GGATAGATAGATAGATAGATGGAT	17: 47,048,462 (GRCm39)		probably benign	Het
Cntn4	A	G	6: 106,530,901 (GRCm39)		probably benign	Het
Cntnap5c	G	C	17: 58,469,155 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Cpne3	G	T	4: 19,563,382 (GRCm39)		probably benign	Het
Cracd	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	5: 76,806,589 (GRCm39)		probably benign	Het
Dab1	T	G	4: 103,903,769 (GRCm39)		probably benign	Het
Dapp1	G	A	3: 137,645,161 (GRCm39)		probably benign	Het
Dcc	G	A	18: 72,430,518 (GRCm39)		probably benign	Het
Dcun1d1	GAAAAAAAAA	GAAAAAAAAAA	3: 35,992,154 (GRCm39)		probably benign	Het
Dennd1b	G	A	1: 139,042,502 (GRCm39)		probably benign	Het
Dhdds	TAA	TA	4: 133,697,674 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Het
Dnm3	CATATATATATATATATATATATA	CATATATATATATATATATATA	1: 162,234,130 (GRCm39)		probably benign	Het
Dock10	N		1: 80,716,623 (GRCm38)		probably benign	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Het
Fgf20	A	C	8: 40,745,359 (GRCm39)		probably benign	Het
Ftsj3	G	T	11: 106,140,885 (GRCm39)		probably benign	Het
Gls	T	G	1: 52,222,526 (GRCm39)		probably benign	Het
Gm12130	T	C	11: 38,397,750 (GRCm39)		noncoding transcript	Het
Gm14936	G	A	X: 111,908,447 (GRCm39)		noncoding transcript	Het
Gm16630	C	T	6: 48,118,203 (GRCm39)		noncoding transcript	Het
Gm22194	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	10: 11,816,707 (GRCm39)		noncoding transcript	Het
Gm26917	C	G	17: 40,154,862 (GRCm39)		noncoding transcript	Het
Gm35048	GACACACACACACACACACACACACACACACACACACAC	GACACACACACACACACACACACACACACACACACAC	1: 90,449,248 (GRCm39)		noncoding transcript	Het
Gm37311	G	A	16: 77,415,169 (GRCm39)		noncoding transcript	Het
Gm37928	AACACACACACACACACACACACACACACACACA	AACACACACACACACACACACACACACACACACACA	3: 118,328,206 (GRCm39)		noncoding transcript	Het
Gm4302	T	C	10: 100,177,306 (GRCm39)	W197R	probably benign	Het
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
H2-T23	T	C	17: 36,342,108 (GRCm39)		probably benign	Het
Hgs	CTTTTTTT	CTTTTTT	11: 120,360,404 (GRCm39)		probably benign	Het
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Het
Il1rap	C	A	16: 26,450,343 (GRCm39)		probably benign	Het
Inhbc	N		10: 127,367,140 (GRCm38)		probably benign	Het
Inpp4b	C	T	8: 82,419,639 (GRCm39)		probably benign	Het
Kars1	N		8: 111,993,708 (GRCm38)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Het
Kcnh7	A	G	2: 62,880,143 (GRCm39)		probably benign	Het
Klhl1	G	C	14: 96,555,166 (GRCm39)		probably benign	Het
Lrch1	C	T	14: 75,142,461 (GRCm39)		probably benign	Het
Lrp1b	G	C	2: 42,127,574 (GRCm39)		probably benign	Het
Lsm8	G	A	6: 18,854,320 (GRCm39)		probably benign	Het
Lsm8	G	A	6: 18,844,315 (GRCm39)		probably benign	Het
Magi2	T	C	5: 20,159,509 (GRCm39)		probably benign	Het
Matcap2	N		9: 22,442,083 (GRCm38)		probably benign	Het
Mef2c	G	A	13: 83,753,942 (GRCm39)		probably benign	Het
Mei4	A	G	9: 82,069,012 (GRCm39)		probably benign	Het
Mid1	T	A	X: 168,788,560 (GRCm39)		probably benign	Het
Mndal	G	C	1: 173,707,784 (GRCm39)		probably benign	Het
Mpped2	C	A	2: 106,551,773 (GRCm39)		probably benign	Het
Mtarc2	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	1: 184,554,985 (GRCm39)		probably benign	Het
Mtf1	A	G	4: 124,723,109 (GRCm39)		probably benign	Het
Mxd1	T	C	6: 86,644,388 (GRCm39)		probably benign	Het
Nbea	G	T	3: 55,608,948 (GRCm39)		probably benign	Het
Ncor1	N		11: 62,419,782 (GRCm38)		probably benign	Het
Nox4	A	G	7: 86,892,275 (GRCm39)		probably benign	Het
Ocln	C	T	13: 100,657,075 (GRCm39)		probably benign	Het
Or5af2	T	A	11: 58,708,266 (GRCm39)	V144D	possibly damaging	Het
Paics	N		5: 76,956,744 (GRCm38)		probably null	Het
Paqr8	G	T	1: 20,984,882 (GRCm39)		probably benign	Het
Pate9	T	C	9: 36,444,849 (GRCm39)		probably benign	Het
Pdss1	C	T	2: 22,790,980 (GRCm39)		probably benign	Het
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Het
Pkhd1	G	A	1: 20,681,638 (GRCm39)		probably benign	Het
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Het
Prr16	C	T	18: 51,333,396 (GRCm39)		probably benign	Het
Prss38	T	G	11: 59,266,467 (GRCm39)		probably benign	Het
Prxl2c	G	A	13: 64,435,099 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,450,983 (GRCm39)		probably benign	Het
Pum1	N		4: 130,730,549 (GRCm38)		probably benign	Het
Rabgef1	N		5: 130,187,586 (GRCm38)		probably null	Het
Rgs16	G	A	1: 153,619,976 (GRCm39)		probably benign	Het
Riok3	G	T	18: 12,263,039 (GRCm39)		probably benign	Het
Rn18s-rs5	T	C	17: 40,159,446 (GRCm39)		noncoding transcript	Het
Robo2	N		16: 74,055,954 (GRCm38)		probably benign	Het
Rps6ka3	A	G	X: 158,062,211 (GRCm39)		probably benign	Het
Rptn	T	A	3: 93,304,848 (GRCm39)	L727Q	probably benign	Het
Slc25a46	C	A	18: 31,730,366 (GRCm39)		probably benign	Het
Spata31f1e	T	C	4: 42,792,885 (GRCm39)	T416A	probably benign	Het
Spsb1	C	T	4: 150,036,943 (GRCm39)		probably benign	Het
Tbc1d19	A	C	5: 53,974,051 (GRCm39)		probably benign	Het
Trav7-4	C	T	14: 53,698,975 (GRCm39)	L41F	probably benign	Het
Trip12	N		1: 84,754,482 (GRCm38)		probably benign	Het
Ttc13	G	A	8: 125,402,605 (GRCm39)		probably benign	Het
Ttll6	C	T	11: 96,046,084 (GRCm39)		probably benign	Het
Unc5b	C	G	10: 60,621,950 (GRCm39)		probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Het
Wars2	N		3: 99,214,774 (GRCm38)		probably null	Het
Zdhhc3	AACACACACACACACACACACACACACACACAC	AACACACACACACACACACACACACACACACACAC	9: 122,912,087 (GRCm39)		probably benign	Het
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Het
Zfp442	C	T	2: 150,261,768 (GRCm39)		probably benign	Het
Zfp808	C	T	13: 62,314,465 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- GTCTGAGAAGCAGTGCCATAG -3'
(R):5'- CCCAACATCTTCGTGAAACTG -3'

Sequencing Primer
(F):5'- TGCCATAGAATATGATAGCCCG -3'
(R):5'- TCTTCGTGAAACTGAATATATGCTC -3'

Posted On

2017-05-26