Mutagenetix > Incidental Mutation

Incidental Mutation 'R7240:Ofcc1'

563161

Institutional Source

Beutler Lab

Gene Symbol

Ofcc1

Ensembl Gene

ENSMUSG00000047094

Gene Name

orofacial cleft 1 candidate 1

Synonyms

Opo, ojoplano

MMRRC Submission

045347-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7240 (G1)

Quality Score

224.009

Status

Not validated

Chromosome

Chromosomal Location

40001882-40361450 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40208841 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 202 (C202R)

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: C202R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: C202R

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

unknown
Transcript: ENSMUST00000224909
AA Change: V176A

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,605,075 (GRCm38)	I59T	unknown	Het
Aspm	C	T	1: 139,478,651 (GRCm38)	Q1759*	probably null	Het
Atn1	A	T	6: 124,747,898 (GRCm38)	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572 (GRCm38)		probably benign	Het
Ccdc88c	C	T	12: 100,944,939 (GRCm38)	V879M	probably benign	Het
Cd300c	A	G	11: 114,959,783 (GRCm38)	C65R	possibly damaging	Het
Cd69	A	T	6: 129,270,042 (GRCm38)	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,893,407 (GRCm38)	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,291,908 (GRCm38)	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,623,874 (GRCm38)	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,311,627 (GRCm38)	F150L	probably benign	Het
Dsg1c	T	C	18: 20,283,109 (GRCm38)	L689P	probably damaging	Het
Dstyk	G	A	1: 132,454,123 (GRCm38)	M538I	probably benign	Het
E4f1	T	A	17: 24,444,325 (GRCm38)	I669F	probably damaging	Het
Gm7138	T	C	10: 77,776,755 (GRCm38)	T64A	unknown	Het
Gnai2	A	C	9: 107,615,773 (GRCm38)	D310E		Het
Iqca	A	G	1: 90,070,550 (GRCm38)	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,759,839 (GRCm38)	N249K	probably benign	Het
Lamc1	A	G	1: 153,234,650 (GRCm38)	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,529,756 (GRCm38)	K188E	probably damaging	Het
N4bp2	T	A	5: 65,794,545 (GRCm38)	V431D	probably damaging	Het
Notch4	A	G	17: 34,576,471 (GRCm38)	T792A	probably benign	Het
Ntn4	A	G	10: 93,745,741 (GRCm38)	H592R	probably damaging	Het
Olfr13	A	G	6: 43,174,501 (GRCm38)	K172E	probably benign	Het
Olfr418	T	C	1: 173,270,994 (GRCm38)	I273T	probably benign	Het
Olfr476	T	C	7: 107,968,188 (GRCm38)	S264P	probably benign	Het
Olfr497	A	G	7: 108,422,933 (GRCm38)	M121V	probably damaging	Het
Olfr922	A	G	9: 38,815,713 (GRCm38)	D70G	probably benign	Het
Olfr938	A	T	9: 39,078,610 (GRCm38)	M45K	probably damaging	Het
Parpbp	G	A	10: 88,124,940 (GRCm38)	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,763,703 (GRCm38)	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,270,349 (GRCm38)	N543S	probably damaging	Het
Puf60	A	G	15: 76,072,539 (GRCm38)		probably benign	Het
Rbm6	A	T	9: 107,852,896 (GRCm38)	D184E	probably damaging	Het
Rnase9	A	C	14: 51,038,979 (GRCm38)	S181A	probably benign	Het
Rnpc3	T	A	3: 113,616,831 (GRCm38)	R270S	probably damaging	Het
Rundc1	T	C	11: 101,431,548 (GRCm38)		probably null	Het
Ryr1	T	C	7: 29,052,015 (GRCm38)	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,469,042 (GRCm38)	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,340,602 (GRCm38)	I31S	probably benign	Het
Sipa1l2	A	G	8: 125,469,860 (GRCm38)	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,161,511 (GRCm38)	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,458,803 (GRCm38)	N58S	probably benign	Het
Tmc2	C	T	2: 130,234,804 (GRCm38)	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,307,678 (GRCm38)	C28R	probably benign	Het
Trbv21	A	T	6: 41,202,958 (GRCm38)	K69N	probably benign	Het
Trpm2	A	G	10: 77,935,876 (GRCm38)		probably null	Het
Ttn	A	G	2: 76,848,990 (GRCm38)	V10796A	unknown	Het
Ush2a	A	G	1: 188,911,661 (GRCm38)	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,451,963 (GRCm38)	H726R	probably benign	Het
Zfp777	A	G	6: 48,044,449 (GRCm38)	S80P	probably benign	Het

Other mutations in Ofcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Ofcc1	APN	13	40,142,804 (GRCm38)	missense	probably damaging	0.97
IGL00489:Ofcc1	APN	13	40,280,491 (GRCm38)	missense	probably damaging	1.00
IGL01952:Ofcc1	APN	13	40,280,861 (GRCm38)	missense	probably damaging	1.00
IGL02126:Ofcc1	APN	13	40,208,775 (GRCm38)	missense	probably benign
IGL02619:Ofcc1	APN	13	40,097,077 (GRCm38)	missense	possibly damaging	0.68
IGL03069:Ofcc1	APN	13	40,072,664 (GRCm38)	missense	probably benign	0.38
IGL03133:Ofcc1	APN	13	40,072,768 (GRCm38)	missense	probably benign	0.36
IGL03273:Ofcc1	APN	13	40,180,525 (GRCm38)	missense	probably damaging	1.00
IGL03343:Ofcc1	APN	13	40,072,664 (GRCm38)	missense	probably benign	0.38
IGL03349:Ofcc1	APN	13	40,072,752 (GRCm38)	missense	probably benign	0.13
IGL03399:Ofcc1	APN	13	40,142,838 (GRCm38)	missense	possibly damaging	0.56
LCD18:Ofcc1	UTSW	13	40,092,967 (GRCm38)	intron	probably benign
R0122:Ofcc1	UTSW	13	40,280,556 (GRCm38)	splice site	probably null
R0320:Ofcc1	UTSW	13	40,206,696 (GRCm38)	missense	probably benign	0.01
R0386:Ofcc1	UTSW	13	40,214,474 (GRCm38)	nonsense	probably null
R0390:Ofcc1	UTSW	13	40,015,313 (GRCm38)	missense	possibly damaging	0.85
R0829:Ofcc1	UTSW	13	40,208,829 (GRCm38)	missense	probably benign	0.00
R0866:Ofcc1	UTSW	13	40,208,829 (GRCm38)	missense	probably benign	0.00
R0945:Ofcc1	UTSW	13	40,208,829 (GRCm38)	missense	probably benign	0.00
R0981:Ofcc1	UTSW	13	40,072,698 (GRCm38)	missense	probably damaging	1.00
R1055:Ofcc1	UTSW	13	40,208,829 (GRCm38)	missense	probably benign	0.00
R1056:Ofcc1	UTSW	13	40,208,829 (GRCm38)	missense	probably benign	0.00
R1186:Ofcc1	UTSW	13	40,208,829 (GRCm38)	missense	probably benign	0.00
R1187:Ofcc1	UTSW	13	40,208,829 (GRCm38)	missense	probably benign	0.00
R1400:Ofcc1	UTSW	13	40,208,829 (GRCm38)	missense	probably benign	0.00
R1411:Ofcc1	UTSW	13	40,142,787 (GRCm38)	missense	probably benign	0.02
R1419:Ofcc1	UTSW	13	40,208,829 (GRCm38)	missense	probably benign	0.00
R1474:Ofcc1	UTSW	13	40,208,829 (GRCm38)	missense	probably benign	0.00
R1636:Ofcc1	UTSW	13	40,180,428 (GRCm38)	missense	possibly damaging	0.86
R1691:Ofcc1	UTSW	13	40,208,829 (GRCm38)	missense	probably benign	0.00
R1886:Ofcc1	UTSW	13	40,206,624 (GRCm38)	missense	possibly damaging	0.88
R1887:Ofcc1	UTSW	13	40,206,624 (GRCm38)	missense	possibly damaging	0.88
R2176:Ofcc1	UTSW	13	40,097,119 (GRCm38)	missense	probably benign
R2189:Ofcc1	UTSW	13	40,180,448 (GRCm38)	missense	probably benign
R2242:Ofcc1	UTSW	13	40,142,787 (GRCm38)	missense	probably benign	0.02
R2255:Ofcc1	UTSW	13	40,094,705 (GRCm38)	missense	probably damaging	0.99
R2471:Ofcc1	UTSW	13	40,097,025 (GRCm38)	missense	probably damaging	1.00
R2863:Ofcc1	UTSW	13	40,087,938 (GRCm38)	missense	possibly damaging	0.56
R2863:Ofcc1	UTSW	13	40,072,760 (GRCm38)	missense	probably damaging	1.00
R4366:Ofcc1	UTSW	13	40,015,461 (GRCm38)	missense	probably benign	0.18
R4573:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4574:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4656:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4657:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4673:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4782:Ofcc1	UTSW	13	40,001,892 (GRCm38)	splice site	probably null
R4790:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4823:Ofcc1	UTSW	13	40,280,473 (GRCm38)	missense	probably damaging	0.99
R4834:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4840:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4842:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4889:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4919:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4920:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4921:Ofcc1	UTSW	13	40,214,517 (GRCm38)	missense	probably benign	0.10
R4948:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4953:Ofcc1	UTSW	13	40,015,388 (GRCm38)	missense	probably damaging	1.00
R4961:Ofcc1	UTSW	13	40,263,559 (GRCm38)	critical splice donor site	probably null
R5339:Ofcc1	UTSW	13	40,087,845 (GRCm38)	missense	probably benign	0.35
R5512:Ofcc1	UTSW	13	40,206,810 (GRCm38)	missense	probably benign	0.20
R5566:Ofcc1	UTSW	13	40,094,653 (GRCm38)	missense	probably damaging	1.00
R5672:Ofcc1	UTSW	13	40,280,429 (GRCm38)	missense	probably damaging	0.98
R5734:Ofcc1	UTSW	13	40,087,849 (GRCm38)	missense	probably damaging	1.00
R5839:Ofcc1	UTSW	13	40,280,545 (GRCm38)	missense	probably damaging	1.00
R5853:Ofcc1	UTSW	13	40,206,717 (GRCm38)	missense	probably benign	0.00
R5896:Ofcc1	UTSW	13	40,180,584 (GRCm38)	missense	probably benign	0.01
R5909:Ofcc1	UTSW	13	40,263,578 (GRCm38)	missense	possibly damaging	0.92
R5995:Ofcc1	UTSW	13	40,280,422 (GRCm38)	missense	probably damaging	1.00
R6306:Ofcc1	UTSW	13	40,148,576 (GRCm38)	missense	probably benign
R6460:Ofcc1	UTSW	13	40,287,979 (GRCm38)	missense	probably damaging	0.99
R6504:Ofcc1	UTSW	13	40,097,055 (GRCm38)	missense	probably damaging	1.00
R6797:Ofcc1	UTSW	13	40,087,947 (GRCm38)	missense	possibly damaging	0.75
R7091:Ofcc1	UTSW	13	40,072,767 (GRCm38)	missense	probably damaging	0.99
R7098:Ofcc1	UTSW	13	40,003,966 (GRCm38)	critical splice donor site	probably null
R7142:Ofcc1	UTSW	13	40,004,062 (GRCm38)	missense	probably benign	0.00
R7589:Ofcc1	UTSW	13	40,255,484 (GRCm38)	missense	probably benign	0.13
R7792:Ofcc1	UTSW	13	40,142,826 (GRCm38)	missense	probably damaging	0.99
R7852:Ofcc1	UTSW	13	40,180,439 (GRCm38)	missense	probably damaging	1.00
R7951:Ofcc1	UTSW	13	40,280,305 (GRCm38)	missense	probably benign
R7952:Ofcc1	UTSW	13	40,280,305 (GRCm38)	missense	probably benign
R8751:Ofcc1	UTSW	13	40,255,596 (GRCm38)	missense	probably benign	0.17
R8991:Ofcc1	UTSW	13	40,142,801 (GRCm38)	missense	probably benign	0.07
R9119:Ofcc1	UTSW	13	40,180,540 (GRCm38)	missense	probably benign	0.02
R9290:Ofcc1	UTSW	13	40,280,326 (GRCm38)	missense	possibly damaging	0.86
X0005:Ofcc1	UTSW	13	40,280,532 (GRCm38)	missense	probably benign	0.00
X0005:Ofcc1	UTSW	13	40,142,790 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCATTTGGCCTGTGTACGG -3'
(R):5'- TCAGACTATCTTGCAGATCTGG -3'

Sequencing Primer
(F):5'- TTCTCTCAAGAAAAGCTTAGGAGG -3'
(R):5'- AGGCTTTATGCTTCATTTTC -3'

Posted On

2019-06-26