Mutagenetix > Incidental Mutation

Incidental Mutation 'R2176:Ofcc1'

236898

Institutional Source

Beutler Lab

Gene Symbol

Ofcc1

Ensembl Gene

ENSMUSG00000047094

Gene Name

orofacial cleft 1 candidate 1

Synonyms

Opo, ojoplano

MMRRC Submission

040178-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40001882-40361450 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40097119 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 574 (S574G)

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: S574G

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

SMART Domains

Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: S574G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,259,367		probably benign	Het
Adam1a	T	A	5: 121,519,586	Y548F	probably benign	Het
Armc9	T	C	1: 86,199,892	L83P	probably damaging	Het
BC051665	A	T	13: 60,784,530		probably benign	Het
Casp3	A	G	8: 46,629,756	N3S	probably damaging	Het
Ccdc174	G	A	6: 91,888,089	M109I	probably benign	Het
Ccr6	T	A	17: 8,256,241	F93I	probably damaging	Het
Clvs2	T	C	10: 33,595,815	S165G	probably damaging	Het
Cntnap5c	T	C	17: 58,013,946	V171A	probably benign	Het
Dennd5a	C	A	7: 109,905,120		probably null	Het
Dock2	T	A	11: 34,695,217	Y546F	probably benign	Het
Fat2	A	G	11: 55,267,575		probably null	Het
Focad	T	A	4: 88,279,244	Y625N	unknown	Het
Fyb	A	G	15: 6,579,954	K3E	probably damaging	Het
Gm14496	G	A	2: 181,991,337	D38N	probably benign	Het
Gm20403	T	C	12: 54,986,370	T54A	probably benign	Het
Gm9830	A	G	9: 44,464,259		noncoding transcript	Het
Hectd1	A	T	12: 51,745,494	S2487R	probably damaging	Het
Il5ra	A	G	6: 106,738,272	L175S	probably benign	Het
Itgav	C	T	2: 83,803,255	R983C	probably damaging	Het
Kcna10	T	C	3: 107,194,716	V221A	probably damaging	Het
Kif13b	G	A	14: 64,669,671	V35I	probably benign	Het
Kif6	G	A	17: 49,755,230	E473K	probably damaging	Het
Mfsd14a	T	C	3: 116,632,393	T452A	probably benign	Het
Mllt1	A	G	17: 56,897,398	S382P	probably benign	Het
Myo15b	T	C	11: 115,866,572	W1083R	probably damaging	Het
Nell2	T	C	15: 95,435,157	I174V	probably damaging	Het
Noct	G	A	3: 51,249,696		probably null	Het
Nvl	A	T	1: 181,135,074		probably benign	Het
Olfr1248	A	T	2: 89,617,580	M204K	possibly damaging	Het
Olfr512	G	A	7: 108,714,132	V248I	probably damaging	Het
Olfr749	T	C	14: 50,736,224	M313V	probably benign	Het
Pip5k1a	A	T	3: 95,065,496	S415T	probably damaging	Het
Pkhd1	G	A	1: 20,553,517	P785S	probably damaging	Het
Plcg2	A	G	8: 117,612,994	Y1048C	probably damaging	Het
Ppp3cb	A	T	14: 20,520,652	V337E	probably benign	Het
Prkg2	T	C	5: 98,966,509		probably benign	Het
Prl7a2	T	G	13: 27,659,106	Y238S	probably benign	Het
Psg28	T	A	7: 18,427,879	D233V	probably damaging	Het
Rad50	A	G	11: 53,698,209	C221R	probably benign	Het
Rgl3	A	G	9: 21,975,958		probably benign	Het
Rgsl1	T	A	1: 153,825,268		probably benign	Het
Ror1	C	A	4: 100,441,874	R815S	probably damaging	Het
Rrp1b	C	A	17: 32,056,560	D360E	probably benign	Het
Ryr3	T	C	2: 112,666,335	Q3682R	possibly damaging	Het
Sdr42e1	A	T	8: 117,662,877	F342I	possibly damaging	Het
Setd5	A	G	6: 113,151,153	R1337G	probably benign	Het
Siglecf	T	C	7: 43,351,716	V36A	probably damaging	Het
Slc4a5	G	A	6: 83,262,560	G152D	probably damaging	Het
Sptbn4	T	G	7: 27,364,162	M2280L	probably benign	Het
Syngr2	T	C	11: 117,812,580	I74T	probably damaging	Het
Tm9sf1	T	C	14: 55,641,409	I175M	possibly damaging	Het
Tmc3	A	G	7: 83,609,308	E502G	probably damaging	Het
Tph1	T	A	7: 46,662,039	D88V	possibly damaging	Het
Tpr	A	G	1: 150,419,940	K979E	possibly damaging	Het
Usp47	A	G	7: 112,092,727	T799A	probably benign	Het
Utf1	A	G	7: 139,944,007	E45G	possibly damaging	Het
Vmn1r208	A	T	13: 22,772,602	C242S	probably damaging	Het
Wrnip1	T	C	13: 32,820,240	I498T	probably damaging	Het
Ypel2	T	A	11: 86,971,873	H18L	probably benign	Het
Zan	T	G	5: 137,421,848	D2849A	unknown	Het
Zfp647	A	T	15: 76,911,660	F267I	probably damaging	Het
Zfp786	G	T	6: 47,820,971	H344Q	possibly damaging	Het
Zswim3	G	T	2: 164,820,694	A365S	probably benign	Het
Zswim5	T	C	4: 116,973,041	W538R	probably damaging	Het

Other mutations in Ofcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Ofcc1	APN	13	40142804	missense	probably damaging	0.97
IGL00489:Ofcc1	APN	13	40280491	missense	probably damaging	1.00
IGL01952:Ofcc1	APN	13	40280861	missense	probably damaging	1.00
IGL02126:Ofcc1	APN	13	40208775	missense	probably benign
IGL02619:Ofcc1	APN	13	40097077	missense	possibly damaging	0.68
IGL03069:Ofcc1	APN	13	40072664	missense	probably benign	0.38
IGL03133:Ofcc1	APN	13	40072768	missense	probably benign	0.36
IGL03273:Ofcc1	APN	13	40180525	missense	probably damaging	1.00
IGL03343:Ofcc1	APN	13	40072664	missense	probably benign	0.38
IGL03349:Ofcc1	APN	13	40072752	missense	probably benign	0.13
IGL03399:Ofcc1	APN	13	40142838	missense	possibly damaging	0.56
LCD18:Ofcc1	UTSW	13	40092967	intron	probably benign
R0122:Ofcc1	UTSW	13	40280556	splice site	probably null
R0320:Ofcc1	UTSW	13	40206696	missense	probably benign	0.01
R0386:Ofcc1	UTSW	13	40214474	nonsense	probably null
R0390:Ofcc1	UTSW	13	40015313	missense	possibly damaging	0.85
R0829:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R0866:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R0945:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R0981:Ofcc1	UTSW	13	40072698	missense	probably damaging	1.00
R1055:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1056:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1186:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1187:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1400:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1411:Ofcc1	UTSW	13	40142787	missense	probably benign	0.02
R1419:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1474:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1636:Ofcc1	UTSW	13	40180428	missense	possibly damaging	0.86
R1691:Ofcc1	UTSW	13	40208829	missense	probably benign	0.00
R1886:Ofcc1	UTSW	13	40206624	missense	possibly damaging	0.88
R1887:Ofcc1	UTSW	13	40206624	missense	possibly damaging	0.88
R2189:Ofcc1	UTSW	13	40180448	missense	probably benign
R2242:Ofcc1	UTSW	13	40142787	missense	probably benign	0.02
R2255:Ofcc1	UTSW	13	40094705	missense	probably damaging	0.99
R2471:Ofcc1	UTSW	13	40097025	missense	probably damaging	1.00
R2863:Ofcc1	UTSW	13	40072760	missense	probably damaging	1.00
R2863:Ofcc1	UTSW	13	40087938	missense	possibly damaging	0.56
R4366:Ofcc1	UTSW	13	40015461	missense	probably benign	0.18
R4573:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4574:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4656:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4657:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4673:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4782:Ofcc1	UTSW	13	40001892	splice site	probably null
R4790:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4823:Ofcc1	UTSW	13	40280473	missense	probably damaging	0.99
R4834:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4840:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4842:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4889:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4919:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4920:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4921:Ofcc1	UTSW	13	40214517	missense	probably benign	0.10
R4948:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4953:Ofcc1	UTSW	13	40015388	missense	probably damaging	1.00
R4961:Ofcc1	UTSW	13	40263559	critical splice donor site	probably null
R5339:Ofcc1	UTSW	13	40087845	missense	probably benign	0.35
R5512:Ofcc1	UTSW	13	40206810	missense	probably benign	0.20
R5566:Ofcc1	UTSW	13	40094653	missense	probably damaging	1.00
R5672:Ofcc1	UTSW	13	40280429	missense	probably damaging	0.98
R5734:Ofcc1	UTSW	13	40087849	missense	probably damaging	1.00
R5839:Ofcc1	UTSW	13	40280545	missense	probably damaging	1.00
R5853:Ofcc1	UTSW	13	40206717	missense	probably benign	0.00
R5896:Ofcc1	UTSW	13	40180584	missense	probably benign	0.01
R5909:Ofcc1	UTSW	13	40263578	missense	possibly damaging	0.92
R5995:Ofcc1	UTSW	13	40280422	missense	probably damaging	1.00
R6306:Ofcc1	UTSW	13	40148576	missense	probably benign
R6460:Ofcc1	UTSW	13	40287979	missense	probably damaging	0.99
R6504:Ofcc1	UTSW	13	40097055	missense	probably damaging	1.00
R6797:Ofcc1	UTSW	13	40087947	missense	possibly damaging	0.75
R7091:Ofcc1	UTSW	13	40072767	missense	probably damaging	0.99
R7098:Ofcc1	UTSW	13	40003966	critical splice donor site	probably null
R7142:Ofcc1	UTSW	13	40004062	missense	probably benign	0.00
R7240:Ofcc1	UTSW	13	40208841	missense	probably benign
R7589:Ofcc1	UTSW	13	40255484	missense	probably benign	0.13
R7792:Ofcc1	UTSW	13	40142826	missense	probably damaging	0.99
R7852:Ofcc1	UTSW	13	40180439	missense	probably damaging	1.00
R7951:Ofcc1	UTSW	13	40280305	missense	probably benign
R7952:Ofcc1	UTSW	13	40280305	missense	probably benign
R8751:Ofcc1	UTSW	13	40255596	missense	probably benign	0.17
R8991:Ofcc1	UTSW	13	40142801	missense	probably benign	0.07
R9119:Ofcc1	UTSW	13	40180540	missense	probably benign	0.02
R9290:Ofcc1	UTSW	13	40280326	missense	possibly damaging	0.86
X0005:Ofcc1	UTSW	13	40142790	missense	probably benign	0.01
X0005:Ofcc1	UTSW	13	40280532	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGCCAAGTTCCTCCTTGAG -3'
(R):5'- ATGTTGGCTTCAGTCATCCAC -3'

Sequencing Primer
(F):5'- AGGTATGAGGACATATTTGAATGTGC -3'
(R):5'- ACATAAATGTGTTTGACTTCCAAATG -3'

Posted On

2014-10-02