Mutagenetix > Incidental Mutations

Incidental Mutation 'R2378:Eif3c'

248348

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2378 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126546455-126566411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126552325 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 609 (R609H)

Ref Sequence

ENSEMBL: ENSMUSP00000032992 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000032992
AA Change: R609H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: R609H

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.1%

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AK157302	T	C	13: 21,495,562	I86T	possibly damaging	Het
Akr1cl	A	T	1: 65,021,988	M124K	probably benign	Het
Asap2	T	C	12: 21,254,318	L745P	possibly damaging	Het
B3gnt9	G	A	8: 105,254,484	R91C	probably damaging	Het
Capg	C	T	6: 72,555,491	P13L	probably benign	Het
Ephb3	A	G	16: 21,218,243	H152R	probably benign	Het
Gbp9	T	C	5: 105,080,176	D580G	probably benign	Het
Gm884	A	G	11: 103,619,711		probably benign	Het
Iars2	A	G	1: 185,327,721	Y97H	probably damaging	Het
Ip6k2	A	G	9: 108,796,301		probably null	Het
Itih2	T	A	2: 10,094,887	D907V	probably damaging	Het
Msh4	A	G	3: 153,863,477	C732R	probably damaging	Het
Mtss1l	T	C	8: 110,738,349	F474L	probably damaging	Het
Nbeal2	T	C	9: 110,630,808	E1175G	probably damaging	Het
Pgm3	A	T	9: 86,562,667	C272S	probably damaging	Het
R3hcc1l	T	A	19: 42,563,473	I303N	probably damaging	Het
Sla2	G	A	2: 156,875,942	R137C	probably damaging	Het
Spsb3	A	G	17: 24,886,950		probably benign	Het
Tgfbr2	G	A	9: 116,129,950	T132I	probably benign	Het
Tpp2	A	T	1: 43,999,765	E223V	probably damaging	Het
Ttn	T	A	2: 76,889,450		probably benign	Het
Vmn2r102	T	G	17: 19,694,668	L832V	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
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
R6495:Eif3c	UTSW	7	126547500	missense	probably damaging	1.00
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
R8492:Eif3c	UTSW	7	126563110	missense	probably damaging	1.00
R8523:Eif3c	UTSW	7	126547897	missense	possibly damaging	0.96
X0065:Eif3c	UTSW	7	126552085	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGCTCCAGGTTGATGTG -3'
(R):5'- TGAAGCCTTTACCAAGCCTCC -3'

Sequencing Primer
(F):5'- CCAGGTTGATGTGCAGGTGAAAG -3'
(R):5'- TGCTGGGATTTGAACTCAGAACC -3'

Posted On

2014-11-11