Mutagenetix > Incidental Mutations

Incidental Mutation 'R6495:Eif3c'

520428

Institutional Source

Beutler Lab

Gene Symbol

Eif3c

Ensembl Gene

ENSMUSG00000030738

Gene Name

eukaryotic translation initiation factor 3, subunit C

Synonyms

NIPIL(A3), 3230401O13Rik, 110kDa, Xs, Eif3s8, Xsl

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6495 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126546455-126566411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126547500 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 809 (F809I)

Ref Sequence

ENSEMBL: ENSMUSP00000032992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032992]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032992
AA Change: F809I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: F809I

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
Pfam:eIF-3c_N	29	703	9.6e-267	PFAM
PINT	776	864	9.7e-27	SMART

Meta Mutation Damage Score

0.8792

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: Mutations in this gene result in a range of abnormal limb development, including polydactyly, and white coat spotting. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	T	A	12: 112,773,714	E502V	probably damaging	Het
Apbb1ip	T	A	2: 22,853,120	Y321*	probably null	Het
Apob	A	G	12: 7,990,394	K577R	probably null	Het
Arfgef3	A	G	10: 18,611,202		probably null	Het
Asap3	T	A	4: 136,228,479		probably null	Het
Atp13a5	C	T	16: 29,321,622		probably null	Het
Bcan	C	A	3: 87,996,597	A194S	possibly damaging	Het
Cacybp	T	C	1: 160,208,523	T32A	probably benign	Het
Cd82	A	G	2: 93,430,012	V90A	probably benign	Het
Chd5	C	T	4: 152,367,372	R714C	probably damaging	Het
Cpb2	T	C	14: 75,275,079	Y311H	probably damaging	Het
Cyp39a1	T	C	17: 43,691,694	Y267H	probably benign	Het
Dnajc6	C	T	4: 101,635,065	Q766*	probably null	Het
Dusp3	T	C	11: 101,981,827	I48V	probably benign	Het
Exosc10	C	T	4: 148,562,872	P213S	probably benign	Het
Galns	C	T	8: 122,600,610	G141D	probably damaging	Het
Gm3233	A	T	10: 77,759,052		probably benign	Het
Hadha	A	T	5: 30,120,050	L714H	probably benign	Het
Map3k20	T	C	2: 72,368,419	M123T	probably damaging	Het
Nt5dc1	A	G	10: 34,324,369	L217P	probably damaging	Het
Nubp2	A	T	17: 24,885,603	D54E	probably damaging	Het
Olfr1471	T	A	19: 13,445,625	D204E	probably benign	Het
Onecut1	C	T	9: 74,863,215	R307C	probably damaging	Het
Pcdhb17	A	G	18: 37,485,667	Y170C	probably damaging	Het
Pkd2	T	A	5: 104,489,293	C591S	probably damaging	Het
Pramef20	T	C	4: 144,376,839	N239S	probably benign	Het
Pwp2	A	T	10: 78,177,127	V549E	probably damaging	Het
Rapsn	A	T	2: 91,036,628	S92C	probably damaging	Het
Rbm19	A	G	5: 120,119,680	S90G	probably damaging	Het
Rfc1	G	A	5: 65,273,815		probably null	Het
Rims2	T	A	15: 39,517,812	F1046L	probably benign	Het
S100a16	C	T	3: 90,542,428	R73C	probably benign	Het
Shroom3	T	C	5: 92,942,069	Y893H	possibly damaging	Het
Stt3b	T	A	9: 115,267,320	Y253F	possibly damaging	Het
Taar8b	A	G	10: 24,091,262	*345Q	probably null	Het
Tas2r119	G	A	15: 32,177,530	V81I	probably benign	Het
Tas2r129	A	G	6: 132,951,165	I22V	probably benign	Het
Tbc1d19	T	G	5: 53,889,213		probably null	Het
Tnip3	A	T	6: 65,605,862	I218F	probably benign	Het
Tnks	A	T	8: 34,839,966		probably null	Het
Ttc29	T	C	8: 78,282,334	Y278H	possibly damaging	Het
Uba7	T	A	9: 107,977,014	C214*	probably null	Het
Vmn2r115	A	T	17: 23,359,598	I682F	probably benign	Het
Vmn2r75	A	T	7: 86,164,079	M505K	probably benign	Het
Wdr19	A	T	5: 65,258,123	T1313S	probably benign	Het
Zbtb22	A	G	17: 33,917,250	D123G	probably damaging	Het
Zcchc6	T	C	13: 59,799,939	E454G	possibly damaging	Het
Zdhhc7	A	G	8: 120,086,656	I138T	probably benign	Het
Zfp706	T	C	15: 37,003,801	K7R	unknown	Het
Zkscan3	G	A	13: 21,387,905	P519L	probably damaging	Het

Other mutations in Eif3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Eif3c	APN	7	126559008	missense	probably benign
IGL01380:Eif3c	APN	7	126564413	intron	probably benign
IGL01434:Eif3c	APN	7	126556410	missense	probably damaging	0.99
IGL01534:Eif3c	APN	7	126557695	missense	probably benign	0.07
IGL02493:Eif3c	APN	7	126558901	missense	probably damaging	0.98
IGL02544:Eif3c	APN	7	126547612	nonsense	probably null
IGL02821:Eif3c	APN	7	126558659	missense	probably benign
IGL02963:Eif3c	APN	7	126556820	missense	probably benign	0.00
R0194:Eif3c	UTSW	7	126558623	unclassified	probably benign
R0421:Eif3c	UTSW	7	126563712	missense	possibly damaging	0.95
R1486:Eif3c	UTSW	7	126564721	missense	probably damaging	1.00
R2378:Eif3c	UTSW	7	126552325	missense	probably damaging	0.99
R4135:Eif3c	UTSW	7	126566299	unclassified	probably benign
R4223:Eif3c	UTSW	7	126566299	unclassified	probably benign
R4225:Eif3c	UTSW	7	126566299	unclassified	probably benign
R4898:Eif3c	UTSW	7	126557454	missense	probably benign	0.03
R5144:Eif3c	UTSW	7	126563066	missense	probably benign
R5246:Eif3c	UTSW	7	126557238	missense	possibly damaging	0.66
R5845:Eif3c	UTSW	7	126564755	missense	probably damaging	0.99
R6884:Eif3c	UTSW	7	126556879	missense	probably benign	0.01
R7236:Eif3c	UTSW	7	126552323	missense	possibly damaging	0.63
R7691:Eif3c	UTSW	7	126551990	missense	possibly damaging	0.95
R7744:Eif3c	UTSW	7	126558894	missense	probably damaging	1.00
X0065:Eif3c	UTSW	7	126552085	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCATCACCACAGTCTGTGTC -3'
(R):5'- ACAATCTGCCAGGCTCCTTC -3'

Sequencing Primer
(F):5'- ACCACAGTCTGTGTCGGCTG -3'
(R):5'- GCCAGGCTCCTTCCTTTAGG -3'

Posted On

2018-06-06