Mutagenetix > Incidental Mutation

Incidental Mutation 'R8827:Eif3c'

673541

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

068658-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8827 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126146083-126165538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126157894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 316 (F316Y)

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: F316Y

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

SMART Domains

Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: F316Y

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,839,324 (GRCm39)	I810V	probably benign	Het
Adcy7	T	C	8: 89,036,327 (GRCm39)	F128S	possibly damaging	Het
Ankhd1	C	T	18: 36,757,633 (GRCm39)	Q188*	probably null	Het
Asxl2	A	T	12: 3,550,501 (GRCm39)	I748L	probably benign	Het
Atp8b2	T	C	3: 89,853,307 (GRCm39)	N70S		Het
Bmp1	A	G	14: 70,728,082 (GRCm39)	Y616H	probably damaging	Het
Brap	T	A	5: 121,810,261 (GRCm39)	D248E	probably benign	Het
Ccdc13	G	A	9: 121,645,765 (GRCm39)	S294L	probably benign	Het
Cdkl1	T	C	12: 69,794,123 (GRCm39)	Y338C	probably benign	Het
Cfap54	A	T	10: 92,774,110 (GRCm39)	S1993T	unknown	Het
Chl1	G	T	6: 103,670,111 (GRCm39)	M500I	probably benign	Het
Cntn3	G	C	6: 102,246,094 (GRCm39)	L352V	probably benign	Het
Cog6	T	C	3: 52,890,535 (GRCm39)	D635G	probably benign	Het
Col22a1	C	A	15: 71,774,665 (GRCm39)		probably null	Het
Cyp3a16	A	T	5: 145,387,008 (GRCm39)	D327E	probably benign	Het
D6Ertd527e	A	T	6: 87,088,226 (GRCm39)	S130C	unknown	Het
Dhodh	T	C	8: 110,334,928 (GRCm39)		probably benign	Het
Dync2li1	C	T	17: 84,955,079 (GRCm39)	S246L	possibly damaging	Het
Esp34	A	T	17: 38,865,091 (GRCm39)		probably benign	Het
Fam98a	T	C	17: 75,851,824 (GRCm39)	M86V	possibly damaging	Het
Gm29394	G	T	15: 57,932,717 (GRCm39)	Q7K	probably damaging	Het
Gtf2i	C	T	5: 134,269,096 (GRCm39)		probably null	Het
H2bc27	C	T	11: 58,839,917 (GRCm39)	P51L	probably benign	Het
Hecw1	A	G	13: 14,438,720 (GRCm39)	Y888H	probably damaging	Het
Kcnma1	A	T	14: 23,417,548 (GRCm39)	W894R	probably damaging	Het
Klhl25	C	A	7: 75,516,391 (GRCm39)	D432E	possibly damaging	Het
Klhl7	G	A	5: 24,363,635 (GRCm39)		probably null	Het
Lamc1	A	T	1: 153,097,424 (GRCm39)	L1540Q	probably damaging	Het
Map3k5	T	A	10: 19,902,003 (GRCm39)	V358E	probably damaging	Het
Map4k5	C	T	12: 69,903,635 (GRCm39)	D57N	possibly damaging	Het
Mpped2	T	C	2: 106,691,928 (GRCm39)	M211T	possibly damaging	Het
Nat9	T	C	11: 115,075,339 (GRCm39)	T101A	probably benign	Het
Nprl3	A	T	11: 32,184,742 (GRCm39)	F447L	probably benign	Het
Nup50l	G	T	6: 96,142,293 (GRCm39)	N250K	probably benign	Het
Or4p22	T	C	2: 88,317,165 (GRCm39)	S30P	probably damaging	Het
Or5h24	G	A	16: 58,919,061 (GRCm39)	T98I	unknown	Het
Or5w16	C	T	2: 87,576,777 (GRCm39)	P79L	possibly damaging	Het
Orc3	A	T	4: 34,605,569 (GRCm39)	F104Y	probably benign	Het
Pcdha6	T	A	18: 37,102,802 (GRCm39)	V665E	probably damaging	Het
Pdpk1	T	C	17: 24,307,191 (GRCm39)	D380G	probably benign	Het
Phkg1	T	A	5: 129,893,894 (GRCm39)	E280D	probably benign	Het
Pkdrej	T	A	15: 85,699,732 (GRCm39)	Y2068F	possibly damaging	Het
Plekhg5	A	G	4: 152,191,462 (GRCm39)		probably benign	Het
Plekhh3	G	A	11: 101,058,380 (GRCm39)	P222L	probably damaging	Het
Prdm1	A	T	10: 44,334,476 (GRCm39)	V10E	probably benign	Het
Prdm6	G	T	18: 53,701,267 (GRCm39)	Q513H	probably damaging	Het
Pros1	T	C	16: 62,746,827 (GRCm39)	V593A	probably benign	Het
Radil	T	C	5: 142,493,859 (GRCm39)	H250R	probably damaging	Het
Rasa2	C	T	9: 96,434,403 (GRCm39)	R628Q	probably damaging	Het
Ryr2	T	C	13: 11,572,934 (GRCm39)	E4884G	possibly damaging	Het
Shh	A	G	5: 28,663,125 (GRCm39)	S348P	probably damaging	Het
Slc1a4	A	T	11: 20,270,237 (GRCm39)		probably benign	Het
Slc32a1	A	C	2: 158,453,274 (GRCm39)	D38A	probably damaging	Het
Slc35f3	TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,780 (GRCm39)		probably benign	Het
Slc45a4	A	T	15: 73,458,316 (GRCm39)	I411N	probably benign	Het
Slc49a4	A	T	16: 35,554,320 (GRCm39)	C274S	probably benign	Het
Slc7a10	C	A	7: 34,897,313 (GRCm39)	S248Y	probably damaging	Het
Smc3	T	A	19: 53,611,085 (GRCm39)	D258E	probably benign	Het
Spata31h1	T	A	10: 82,129,617 (GRCm39)	Q1131L	probably benign	Het
Sphk1	A	G	11: 116,426,590 (GRCm39)	D182G	probably damaging	Het
Srgap3	A	G	6: 112,716,302 (GRCm39)	Y633H	probably damaging	Het
Sspo	T	G	6: 48,434,606 (GRCm39)	F1033V	possibly damaging	Het
Syne2	T	C	12: 76,095,357 (GRCm39)	V488A	probably benign	Het
Tead1	A	C	7: 112,475,449 (GRCm39)	K299N	probably damaging	Het
Tmem150c	A	C	5: 100,240,654 (GRCm39)	S69R	probably damaging	Het
Tnfaip3	T	A	10: 18,880,795 (GRCm39)	K424M	probably damaging	Het
Trib3	A	G	2: 152,180,188 (GRCm39)	V335A	possibly damaging	Het
Ttc39c	G	A	18: 12,828,436 (GRCm39)	V199I	probably benign	Het
Vangl1	A	T	3: 102,070,736 (GRCm39)	F400Y	probably damaging	Het
Vmn2r106	A	T	17: 20,487,868 (GRCm39)	S844T	probably benign	Het
Wwtr1	A	G	3: 57,482,616 (GRCm39)	V77A	probably damaging	Het
Yju2b	T	A	8: 84,986,987 (GRCm39)	Q170L	possibly damaging	Het
Zc3h4	C	A	7: 16,163,123 (GRCm39)	P500T	unknown	Het
Zfand2a	C	T	5: 139,460,607 (GRCm39)		probably null	Het
Zfr2	A	G	10: 81,078,619 (GRCm39)	T284A	probably benign	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
R7744:Eif3c	UTSW	7	126,158,066 (GRCm39)	missense	probably damaging	1.00
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
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'- TGATGTCCACGCACATCAAC -3'
(R):5'- CACGATAGGAAGTCTAAGCGCC -3'

Sequencing Primer
(F):5'- CATCAACGTTGAACAGTGCTG -3'
(R):5'- TCTAAGCGCCTGGATGAGG -3'

Posted On

2021-07-15