Mutagenetix > Incidental Mutation

Incidental Mutation 'R7744:Eif3c'

596737

Institutional Source

Beutler Lab

Gene Symbol

Eif3c

Ensembl Gene

ENSMUSG00000030738

Gene Name

eukaryotic translation initiation factor 3, subunit C

Synonyms

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

MMRRC Submission

045800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7744 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126146083-126165538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 126158066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 297 (G297W)

Ref Sequence

ENSEMBL: ENSMUSP00000032992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032992] [ENSMUST00000180459] [ENSMUST00000205949]

AlphaFold

Q8R1B4

Predicted Effect

probably damaging
Transcript: ENSMUST00000032992
AA Change: G297W

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

SMART Domains

Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: G297W

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

Predicted Effect

probably benign
Transcript: ENSMUST00000180459

SMART Domains

Protein: ENSMUSP00000138023
Gene: ENSMUSG00000030738

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
low complexity region	113	126	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205949

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,240,421 (GRCm39)	N761K	possibly damaging	Het
Abi2	A	G	1: 60,476,362 (GRCm39)	I145V	probably benign	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Atf7ip2	T	A	16: 10,059,522 (GRCm39)	V354E	possibly damaging	Het
Bglap	T	C	3: 88,290,958 (GRCm39)	Y91C	probably damaging	Het
Cacna1e	A	T	1: 154,341,538 (GRCm39)	S1219T	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cd177	A	G	7: 24,449,800 (GRCm39)	C562R	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chd7	T	A	4: 8,862,485 (GRCm39)		probably null	Het
Dyrk3	A	G	1: 131,057,543 (GRCm39)	V210A	probably damaging	Het
Eml1	A	G	12: 108,482,863 (GRCm39)	H494R	probably benign	Het
Enpp2	A	T	15: 54,764,629 (GRCm39)		probably null	Het
Fbxw21	C	A	9: 108,986,720 (GRCm39)	C53F	possibly damaging	Het
Fndc3a	C	A	14: 72,799,156 (GRCm39)	G609V	possibly damaging	Het
Grid1	A	G	14: 35,172,036 (GRCm39)	D514G	probably damaging	Het
Gxylt2	T	C	6: 100,760,278 (GRCm39)	V271A	probably damaging	Het
Hes1	A	G	16: 29,884,997 (GRCm39)	K74R	probably damaging	Het
Igsf9	A	G	1: 172,319,752 (GRCm39)	N349S	probably benign	Het
Isx	T	A	8: 75,600,285 (GRCm39)	I6N	possibly damaging	Het
Kcnb1	A	T	2: 167,030,251 (GRCm39)	F98Y	probably damaging	Het
Kif1b	G	C	4: 149,321,532 (GRCm39)	T1129R	possibly damaging	Het
Klra10	T	A	6: 130,249,724 (GRCm39)		probably null	Het
Mcm10	A	T	2: 4,996,253 (GRCm39)	L870Q	probably damaging	Het
Mettl16	T	A	11: 74,693,829 (GRCm39)	I280K	probably benign	Het
Mre11a	G	A	9: 14,721,128 (GRCm39)	R349Q	possibly damaging	Het
Mrpl10	C	T	11: 96,935,402 (GRCm39)	T34I	probably damaging	Het
Muc16	T	A	9: 18,496,392 (GRCm39)		probably null	Het
Myt1l	T	C	12: 29,877,548 (GRCm39)	C400R	unknown	Het
Nbr1	C	T	11: 101,460,210 (GRCm39)	T402M	probably damaging	Het
Ndufs1	A	G	1: 63,200,099 (GRCm39)	M271T	possibly damaging	Het
Or10q1	A	G	19: 13,727,419 (GRCm39)	*316W	probably null	Het
Or4c29	C	T	2: 88,740,003 (GRCm39)	V245I	possibly damaging	Het
Or51f23c-ps1	G	T	7: 102,431,597 (GRCm39)	V305L	probably benign	Het
Pakap	T	C	4: 57,709,519 (GRCm39)	S155P	probably damaging	Het
Pced1a	C	T	2: 130,263,972 (GRCm39)	D227N	probably damaging	Het
Phf21b	A	G	15: 84,689,070 (GRCm39)	I152T	probably damaging	Het
Pla2g4a	A	G	1: 149,736,853 (GRCm39)	V430A	probably benign	Het
Plbd1	T	C	6: 136,594,244 (GRCm39)	E335G	probably benign	Het
Plce1	G	A	19: 38,608,899 (GRCm39)	V403M	possibly damaging	Het
Pnpla6	T	A	8: 3,581,677 (GRCm39)	N642K	probably benign	Het
Ptprb	T	C	10: 116,113,389 (GRCm39)	I123T	probably benign	Het
Rab3il1	T	A	19: 10,005,641 (GRCm39)		probably null	Het
Ranbp3	C	T	17: 57,015,219 (GRCm39)	T307M	possibly damaging	Het
Rasgrp2	T	C	19: 6,455,031 (GRCm39)	S254P	probably damaging	Het
Rgl3	T	C	9: 21,898,866 (GRCm39)	K191R	probably benign	Het
Rnf223	G	A	4: 156,216,982 (GRCm39)	R119H	probably benign	Het
Sapcd2	C	T	2: 25,263,508 (GRCm39)	P217S	unknown	Het
Setd7	C	T	3: 51,434,261 (GRCm39)		probably null	Het
Sh3bp1	A	C	15: 78,794,209 (GRCm39)	T526P	possibly damaging	Het
Slc17a4	C	A	13: 24,085,767 (GRCm39)	W382L	probably benign	Het
Slc26a3	A	T	12: 31,513,464 (GRCm39)		probably null	Het
Tmem129	A	G	5: 33,811,732 (GRCm39)	L356P	probably damaging	Het
Trib1	T	A	15: 59,526,512 (GRCm39)	Y361N	probably benign	Het
Xirp1	T	A	9: 119,845,912 (GRCm39)	R990S	possibly damaging	Het
Zfp950	A	C	19: 61,116,010 (GRCm39)		probably null	Het

Other mutations in Eif3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Eif3c	APN	7	126,158,180 (GRCm39)	missense	probably benign
IGL01380:Eif3c	APN	7	126,163,585 (GRCm39)	intron	probably benign
IGL01434:Eif3c	APN	7	126,155,582 (GRCm39)	missense	probably damaging	0.99
IGL01534:Eif3c	APN	7	126,156,867 (GRCm39)	missense	probably benign	0.07
IGL02493:Eif3c	APN	7	126,158,073 (GRCm39)	missense	probably damaging	0.98
IGL02544:Eif3c	APN	7	126,146,784 (GRCm39)	nonsense	probably null
IGL02821:Eif3c	APN	7	126,157,831 (GRCm39)	missense	probably benign
IGL02963:Eif3c	APN	7	126,155,992 (GRCm39)	missense	probably benign	0.00
R0194:Eif3c	UTSW	7	126,157,795 (GRCm39)	unclassified	probably benign
R0421:Eif3c	UTSW	7	126,162,884 (GRCm39)	missense	possibly damaging	0.95
R1486:Eif3c	UTSW	7	126,163,893 (GRCm39)	missense	probably damaging	1.00
R2378:Eif3c	UTSW	7	126,151,497 (GRCm39)	missense	probably damaging	0.99
R4135:Eif3c	UTSW	7	126,165,471 (GRCm39)	unclassified	probably benign
R4223:Eif3c	UTSW	7	126,165,471 (GRCm39)	unclassified	probably benign
R4225:Eif3c	UTSW	7	126,165,471 (GRCm39)	unclassified	probably benign
R4898:Eif3c	UTSW	7	126,156,626 (GRCm39)	missense	probably benign	0.03
R5144:Eif3c	UTSW	7	126,162,238 (GRCm39)	missense	probably benign
R5246:Eif3c	UTSW	7	126,156,410 (GRCm39)	missense	possibly damaging	0.66
R5845:Eif3c	UTSW	7	126,163,927 (GRCm39)	missense	probably damaging	0.99
R6495:Eif3c	UTSW	7	126,146,672 (GRCm39)	missense	probably damaging	1.00
R6884:Eif3c	UTSW	7	126,156,051 (GRCm39)	missense	probably benign	0.01
R7236:Eif3c	UTSW	7	126,151,495 (GRCm39)	missense	possibly damaging	0.63
R7691:Eif3c	UTSW	7	126,151,162 (GRCm39)	missense	possibly damaging	0.95
R8492:Eif3c	UTSW	7	126,162,282 (GRCm39)	missense	probably damaging	1.00
R8523:Eif3c	UTSW	7	126,147,069 (GRCm39)	missense	possibly damaging	0.96
R8779:Eif3c	UTSW	7	126,162,900 (GRCm39)	missense	possibly damaging	0.95
R8827:Eif3c	UTSW	7	126,157,894 (GRCm39)	missense	probably damaging	1.00
R9015:Eif3c	UTSW	7	126,155,538 (GRCm39)	missense	probably damaging	1.00
R9394:Eif3c	UTSW	7	126,156,550 (GRCm39)	missense	probably benign
R9711:Eif3c	UTSW	7	126,146,674 (GRCm39)	missense	possibly damaging	0.46
X0065:Eif3c	UTSW	7	126,151,257 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTGATCTCAGTTCCCTTGGC -3'
(R):5'- ACTGAGGATAATTGGCCTATTTGC -3'

Sequencing Primer
(F):5'- AGTTCCCTTGGCAAACATTTTTGG -3'
(R):5'- CAGTTGATTGAATGCTCGCC -3'

Posted On

2019-11-26