Mutagenetix > Incidental Mutation

Incidental Mutation 'R0783:Eif3i'

76715

Institutional Source

Beutler Lab

Gene Symbol

Eif3i

Ensembl Gene

ENSMUSG00000028798

Gene Name

eukaryotic translation initiation factor 3, subunit I

Synonyms

Eif3s2, 36kDa, TRIP-1, D4Ertd632e

MMRRC Submission

038963-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129591960-129600648 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129592076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 319 (F319V)

Ref Sequence

ENSEMBL: ENSMUSP00000099653 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102593] [ENSMUST00000135055]

AlphaFold

Q9QZD9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102593
AA Change: F319V

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099653
Gene: ENSMUSG00000028798
AA Change: F319V

Domain	Start	End	E-Value	Type
WD40	1	38	1.1e1	SMART
WD40	41	80	1.07e-8	SMART
WD40	135	174	3.84e0	SMART
WD40	177	216	6.63e-5	SMART
Blast:WD40	219	257	2e-18	BLAST
WD40	274	313	3.75e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135055

SMART Domains

Protein: ENSMUSP00000120776
Gene: ENSMUSG00000028798

Domain	Start	End	E-Value	Type
WD40	2	32	1.54e0	SMART
Blast:WD40	35	78	1e-9	BLAST
WD40	87	126	3.84e0	SMART
WD40	129	163	8.25e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155428

Meta Mutation Damage Score

0.4935

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 92.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 120,294,157	G1277R	probably damaging	Het
Abi3bp	A	G	16: 56,595,238		probably null	Het
Acsm2	G	A	7: 119,573,117	G61D	probably damaging	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Bbs9	T	C	9: 22,567,714	L151S	possibly damaging	Het
Camk2g	T	A	14: 20,744,636	T173S	possibly damaging	Het
Eif3b	T	C	5: 140,419,837		probably benign	Het
Eprs	T	C	1: 185,398,458	L672P	probably damaging	Het
Fras1	C	T	5: 96,768,430	A3441V	probably damaging	Het
Gigyf2	T	A	1: 87,407,161	M79K	probably damaging	Het
Grrp1	G	A	4: 134,252,057	R37C	probably damaging	Het
Hdac1	T	C	4: 129,518,109	N331S	probably benign	Het
Hmcn1	C	T	1: 150,650,073	G3300S	probably damaging	Het
Iars2	T	C	1: 185,320,874	E400G	probably damaging	Het
Irx2	T	C	13: 72,632,650		probably null	Het
Itih4	G	A	14: 30,895,423	E567K	possibly damaging	Het
Klhl5	T	A	5: 65,156,253		probably benign	Het
Klk8	G	A	7: 43,802,197	G204E	probably damaging	Het
Loxhd1	T	C	18: 77,429,984	F1843L	possibly damaging	Het
Mllt6	T	C	11: 97,665,745	V87A	probably damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Nhlrc3	A	T	3: 53,462,449	S34T	probably benign	Het
Olfr1099	A	G	2: 86,958,562	C299R	probably benign	Het
Olfr1224-ps1	A	T	2: 89,156,891	C95S	probably benign	Het
Olfr1494	T	C	19: 13,749,676	L190P	probably damaging	Het
Olfr193	A	T	16: 59,110,169	L147*	probably null	Het
Olfr549	A	G	7: 102,554,439	I52V	probably benign	Het
Olfr593	T	C	7: 103,212,670	F259S	probably damaging	Het
Pcnx4	T	C	12: 72,575,478	W1074R	probably damaging	Het
Pcsk9	T	C	4: 106,450,117	T310A	probably benign	Het
Pfas	A	G	11: 69,000,521	L250P	probably damaging	Het
Plk5	T	A	10: 80,361,130	D352E	probably benign	Het
Ryr3	A	G	2: 112,756,327		probably benign	Het
Serinc3	A	G	2: 163,637,003	I68T	possibly damaging	Het
Sez6l2	A	G	7: 126,967,145	T810A	possibly damaging	Het
Tmprss7	G	A	16: 45,667,606	Q487*	probably null	Het
Tnf	A	G	17: 35,201,674	I56T	probably damaging	Het
Ttbk2	A	T	2: 120,739,977	S1163T	possibly damaging	Het
Ttn	G	A	2: 76,743,530	T23927I	probably damaging	Het
Urb1	G	A	16: 90,810,297	A15V	possibly damaging	Het
Zfp128	C	T	7: 12,890,272	P189L	probably damaging	Het
Zfr	T	C	15: 12,162,182	V806A	probably damaging	Het

Other mutations in Eif3i

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Eif3i	APN	4	129595069	missense	probably benign
IGL02222:Eif3i	APN	4	129592088	missense	possibly damaging	0.89
IGL02975:Eif3i	APN	4	129595312	missense	probably damaging	0.99
R0683:Eif3i	UTSW	4	129593535	missense	probably benign	0.12
R0920:Eif3i	UTSW	4	129595257	splice site	probably benign
R1251:Eif3i	UTSW	4	129593385	missense	probably damaging	1.00
R2132:Eif3i	UTSW	4	129596926	missense	probably benign	0.02
R2133:Eif3i	UTSW	4	129596926	missense	probably benign	0.02
R3978:Eif3i	UTSW	4	129592336	missense	probably damaging	1.00
R4781:Eif3i	UTSW	4	129595273	missense	probably benign	0.11
R4808:Eif3i	UTSW	4	129592064	missense	probably benign	0.15
R5096:Eif3i	UTSW	4	129600444	missense	probably damaging	0.97
R5335:Eif3i	UTSW	4	129595186	missense	probably benign	0.20
R6048:Eif3i	UTSW	4	129593352	missense	probably benign	0.01
R7087:Eif3i	UTSW	4	129592311	missense	probably damaging	1.00
R7503:Eif3i	UTSW	4	129600414	missense	probably damaging	0.97
R8798:Eif3i	UTSW	4	129596924	missense	probably benign	0.00
R9652:Eif3i	UTSW	4	129595301	missense	probably benign
RF012:Eif3i	UTSW	4	129592079	missense	probably damaging	1.00
RF019:Eif3i	UTSW	4	129600465	missense	probably damaging	1.00
Z1176:Eif3i	UTSW	4	129600575	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCTTAGGCACTGGCTTCTTGAATG -3'
(R):5'- AAGAGTCAAGGGCCACTTTGGACC -3'

Sequencing Primer
(F):5'- CTCTTGGATGAAGGTGTCTACAAC -3'
(R):5'- TTCCATCCTGATGGCAAGAG -3'

Posted On

2013-10-16