Mutagenetix > Incidental Mutation

Incidental Mutation 'R0421:Eif3c'

37060

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

038623-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126146083-126165538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126162884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 133 (N133S)

Ref Sequence

ENSEMBL: ENSMUSP00000032992 (fasta)

Gene Model

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

AlphaFold

Q8R1B4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032992
AA Change: N133S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: N133S

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

noncoding transcript
Transcript: ENSMUST00000083407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122504

Predicted Effect

unknown
Transcript: ENSMUST00000180459
AA Change: N133S

SMART Domains

Protein: ENSMUSP00000138023
Gene: ENSMUSG00000030738
AA Change: N133S

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

Meta Mutation Damage Score

0.0919

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

97% (67/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	G	A	2: 22,850,839 (GRCm39)	T195I	probably damaging	Het
Afap1l1	T	C	18: 61,884,945 (GRCm39)	N180S	probably damaging	Het
Arsg	A	G	11: 109,418,592 (GRCm39)	Y196C	probably damaging	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
Atp2b2	C	A	6: 113,790,849 (GRCm39)	R185L	probably damaging	Het
Ccr9	A	T	9: 123,608,671 (GRCm39)	M118L	probably benign	Het
Cdh12	A	T	15: 21,480,310 (GRCm39)		probably null	Het
Cdk13	T	C	13: 17,937,755 (GRCm39)	S763G	probably damaging	Het
Cenpk	C	A	13: 104,378,911 (GRCm39)	N177K	probably benign	Het
Cfap43	T	G	19: 47,824,014 (GRCm39)	N119T	probably benign	Het
Chrna6	T	C	8: 27,898,415 (GRCm39)	E101G	probably null	Het
Clasp2	G	A	9: 113,683,370 (GRCm39)	R400H	probably benign	Het
Col6a6	T	C	9: 105,661,405 (GRCm39)	M235V	probably benign	Het
Ddx49	A	T	8: 70,748,282 (GRCm39)	L291Q	probably damaging	Het
Dhrs7	A	T	12: 72,699,860 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,229,687 (GRCm39)	K107M	possibly damaging	Het
Dsg2	C	T	18: 20,712,448 (GRCm39)	R151C	probably damaging	Het
Dsn1	T	C	2: 156,847,789 (GRCm39)	T2A	possibly damaging	Het
Edem3	A	G	1: 151,668,189 (GRCm39)		probably benign	Het
F10	A	G	8: 13,095,097 (GRCm39)	K85E	probably benign	Het
Fbn2	T	A	18: 58,160,876 (GRCm39)		probably benign	Het
Gtpbp10	A	T	5: 5,607,290 (GRCm39)	H50Q	probably benign	Het
Hephl1	A	G	9: 14,970,456 (GRCm39)	F1013L	probably benign	Het
Hps3	C	A	3: 20,083,480 (GRCm39)	V238F	probably benign	Het
Kcna10	A	C	3: 107,101,820 (GRCm39)	K150N	probably damaging	Het
Kirrel1	C	T	3: 86,990,914 (GRCm39)	G636D	probably damaging	Het
Kndc1	G	A	7: 139,488,912 (GRCm39)	R189H	probably damaging	Het
Knop1	C	T	7: 118,454,852 (GRCm39)	E50K	possibly damaging	Het
Kplce	T	C	3: 92,776,291 (GRCm39)	T131A	probably damaging	Het
Kpna7	T	A	5: 144,926,551 (GRCm39)	H467L	possibly damaging	Het
Lcn4	T	C	2: 26,558,661 (GRCm39)	N142D	possibly damaging	Het
Map3k3	T	C	11: 106,039,741 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,684,707 (GRCm39)	T806A	probably benign	Het
Nbeal1	T	A	1: 60,307,598 (GRCm39)	N1703K	probably benign	Het
Neurl4	T	C	11: 69,799,360 (GRCm39)	V914A	probably damaging	Het
Niban1	T	A	1: 151,584,833 (GRCm39)		probably benign	Het
Nop56	T	C	2: 130,118,692 (GRCm39)	S275P	possibly damaging	Het
Or1j20	A	G	2: 36,759,653 (GRCm39)	E25G	possibly damaging	Het
Or52ac1	A	G	7: 104,245,929 (GRCm39)	V153A	probably benign	Het
Or7e174	A	G	9: 20,012,771 (GRCm39)	K239E	probably damaging	Het
Otof	A	C	5: 30,528,912 (GRCm39)	I1827S	possibly damaging	Het
Pappa2	A	T	1: 158,675,650 (GRCm39)	I1032N	probably damaging	Het
Pcdh7	A	G	5: 57,877,402 (GRCm39)	E319G	probably damaging	Het
Pcdhb11	T	A	18: 37,555,533 (GRCm39)	S288T	probably benign	Het
Phip	A	T	9: 82,808,510 (GRCm39)	D488E	probably damaging	Het
Pla2g7	A	T	17: 43,922,303 (GRCm39)	H394L	probably damaging	Het
Plk3	A	G	4: 116,990,641 (GRCm39)	V69A	probably damaging	Het
Prob1	C	A	18: 35,786,083 (GRCm39)	A724S	possibly damaging	Het
Prune2	T	C	19: 17,100,675 (GRCm39)	F2060L	probably benign	Het
Rgl3	G	A	9: 21,887,328 (GRCm39)	R498C	probably benign	Het
Rnf213	A	C	11: 119,338,083 (GRCm39)	N3362H	probably damaging	Het
Sbds	A	G	5: 130,282,774 (GRCm39)		probably benign	Het
Scn9a	T	C	2: 66,373,621 (GRCm39)	S453G	probably benign	Het
Sh3rf3	T	C	10: 58,819,897 (GRCm39)	L236P	probably damaging	Het
Skint1	A	G	4: 111,876,211 (GRCm39)	N44S	possibly damaging	Het
Slc5a1	T	A	5: 33,291,996 (GRCm39)	I141N	probably damaging	Het
Tlcd3b	G	A	7: 126,424,187 (GRCm39)	V44M	probably damaging	Het
Trank1	T	A	9: 111,220,907 (GRCm39)	I2548N	probably damaging	Het
Tsc22d2	G	A	3: 58,324,749 (GRCm39)		probably benign	Het
Unc13c	T	A	9: 73,840,492 (GRCm39)	I120F	possibly damaging	Het
Vmn2r11	T	G	5: 109,207,294 (GRCm39)	I9L	probably benign	Het
Vmn2r58	T	G	7: 41,514,628 (GRCm39)	N114H	probably benign	Het
Vps53	A	G	11: 75,973,496 (GRCm39)	L166P	probably damaging	Het
Zfp119a	T	A	17: 56,172,248 (GRCm39)	K532*	probably null	Het
Zfp472	A	G	17: 33,194,897 (GRCm39)	T11A	possibly damaging	Het
Zfp512b	T	A	2: 181,230,051 (GRCm39)	K87*	probably null	Het
Zfp518b	G	A	5: 38,831,918 (GRCm39)	P29L	probably damaging	Het
Zfp599	A	G	9: 22,161,843 (GRCm39)		probably benign	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		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
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
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'- AGCCATGTGTCATCTACCCATGCTC -3'
(R):5'- TGCTCGCTTCGGCAGCACATATAC -3'

Sequencing Primer
(F):5'- GTGTGACTCGAAATCTCGGT -3'
(R):5'- gcagcacatatactaaaattggaac -3'

Posted On

2013-05-09