Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02975:Eif3i'

406331

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif3i

Ensembl Gene

ENSMUSG00000028798

Gene Name

eukaryotic translation initiation factor 3, subunit I

Synonyms

D4Ertd632e, Eif3s2, TRIP-1, 36kDa

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL02975

Quality Score

Status

Chromosome

Chromosomal Location

129485767-129494441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129489105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 70 (Y70H)

Ref Sequence

ENSEMBL: ENSMUSP00000120776 (fasta)

Gene Model

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

AlphaFold

Q9QZD9

Predicted Effect

probably benign
Transcript: ENSMUST00000102593
AA Change: Y118H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099653
Gene: ENSMUSG00000028798
AA Change: Y118H

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 damaging
Transcript: ENSMUST00000135055
AA Change: Y70H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120776
Gene: ENSMUSG00000028798
AA Change: Y70H

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: ENSMUST00000143384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155428

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,381,784 (GRCm39)	D326G	possibly damaging	Het
Abtb3	A	G	10: 85,467,207 (GRCm39)	I721V	probably benign	Het
Ago4	C	T	4: 126,406,312 (GRCm39)		probably null	Het
Ank	A	G	15: 27,467,087 (GRCm39)		probably benign	Het
Ankmy2	C	A	12: 36,243,773 (GRCm39)	S329R	possibly damaging	Het
Aox1	A	G	1: 58,107,550 (GRCm39)	E608G	probably damaging	Het
Car1	G	A	3: 14,842,882 (GRCm39)	L48F	probably benign	Het
Cct8	A	G	16: 87,283,118 (GRCm39)		probably benign	Het
Clasp1	A	T	1: 118,390,277 (GRCm39)	T154S	probably damaging	Het
Clca4a	A	C	3: 144,669,530 (GRCm39)	I340M	possibly damaging	Het
Cnksr3	C	T	10: 7,088,354 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,210,199 (GRCm39)	T265A	possibly damaging	Het
Ddx5	T	C	11: 106,672,711 (GRCm39)	I605V	probably benign	Het
Epb41l5	T	C	1: 119,506,811 (GRCm39)		probably benign	Het
Fah	A	T	7: 84,250,287 (GRCm39)	S90T	probably benign	Het
Fat2	T	A	11: 55,161,020 (GRCm39)	M3237L	probably benign	Het
Fbxw8	A	G	5: 118,215,760 (GRCm39)	Y417H	probably benign	Het
Fmnl2	C	A	2: 52,991,494 (GRCm39)	F336L	probably benign	Het
Gli3	A	G	13: 15,899,153 (GRCm39)	R847G	probably damaging	Het
Gm17509	T	C	13: 117,357,308 (GRCm39)		probably benign	Het
Gm4846	T	A	1: 166,311,449 (GRCm39)	Y470F	possibly damaging	Het
Gm7461	T	C	8: 4,727,847 (GRCm39)		noncoding transcript	Het
Gpatch4	A	T	3: 87,961,743 (GRCm39)	N134I	possibly damaging	Het
Grina	A	G	15: 76,133,185 (GRCm39)	Y251C	probably damaging	Het
Gsn	A	G	2: 35,194,666 (GRCm39)	D654G	probably benign	Het
Hyal5	A	G	6: 24,891,451 (GRCm39)	T422A	probably benign	Het
Iars1	T	A	13: 49,858,325 (GRCm39)	I377N	probably damaging	Het
Ints3	A	T	3: 90,309,144 (GRCm39)		probably benign	Het
Kdm4b	G	A	17: 56,682,996 (GRCm39)		probably null	Het
Kyat1	A	G	2: 30,076,687 (GRCm39)	S276P	probably damaging	Het
Lrrc1	A	G	9: 77,359,929 (GRCm39)	C288R	probably damaging	Het
Mst1r	T	A	9: 107,790,379 (GRCm39)	M664K	probably benign	Het
Neb	A	T	2: 52,188,879 (GRCm39)	I817N	probably damaging	Het
Nudt6	C	A	3: 37,473,667 (GRCm39)	G18V	probably damaging	Het
Or10a49	G	A	7: 108,468,062 (GRCm39)	Q100*	probably null	Het
Or4k52	T	A	2: 111,611,266 (GRCm39)	Y200*	probably null	Het
Or7a41	T	C	10: 78,870,867 (GRCm39)	V79A	possibly damaging	Het
Pde1c	A	G	6: 56,135,921 (GRCm39)	I341T	probably damaging	Het
Pgm5	T	C	19: 24,812,212 (GRCm39)	I107V	probably benign	Het
Pot1b	G	A	17: 55,969,454 (GRCm39)		probably benign	Het
Prkca	C	T	11: 108,231,503 (GRCm39)	W58*	probably null	Het
Slc12a9	T	C	5: 137,320,705 (GRCm39)	K555R	probably damaging	Het
Smoc2	A	T	17: 14,556,872 (GRCm39)	Q107L	probably damaging	Het
Sytl1	T	A	4: 132,988,343 (GRCm39)	R4S	probably benign	Het
Tbc1d4	A	G	14: 101,695,549 (GRCm39)	L963P	probably damaging	Het
Tfdp2	G	A	9: 96,199,989 (GRCm39)		probably benign	Het
Tmem63a	A	T	1: 180,788,640 (GRCm39)	M326L	probably benign	Het
Vmn2r66	A	G	7: 84,656,182 (GRCm39)	L278P	probably damaging	Het
Wtap	A	G	17: 13,202,398 (GRCm39)	V11A	possibly damaging	Het
Zcchc9	A	T	13: 91,954,172 (GRCm39)	S28T	possibly damaging	Het
Zfp12	C	T	5: 143,229,814 (GRCm39)		probably benign	Het

Other mutations in Eif3i

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Eif3i	APN	4	129,488,862 (GRCm39)	missense	probably benign
IGL02222:Eif3i	APN	4	129,485,881 (GRCm39)	missense	possibly damaging	0.89
R0683:Eif3i	UTSW	4	129,487,328 (GRCm39)	missense	probably benign	0.12
R0783:Eif3i	UTSW	4	129,485,869 (GRCm39)	missense	possibly damaging	0.85
R0920:Eif3i	UTSW	4	129,489,050 (GRCm39)	splice site	probably benign
R1251:Eif3i	UTSW	4	129,487,178 (GRCm39)	missense	probably damaging	1.00
R2132:Eif3i	UTSW	4	129,490,719 (GRCm39)	missense	probably benign	0.02
R2133:Eif3i	UTSW	4	129,490,719 (GRCm39)	missense	probably benign	0.02
R3978:Eif3i	UTSW	4	129,486,129 (GRCm39)	missense	probably damaging	1.00
R4781:Eif3i	UTSW	4	129,489,066 (GRCm39)	missense	probably benign	0.11
R4808:Eif3i	UTSW	4	129,485,857 (GRCm39)	missense	probably benign	0.15
R5096:Eif3i	UTSW	4	129,494,237 (GRCm39)	missense	probably damaging	0.97
R5335:Eif3i	UTSW	4	129,488,979 (GRCm39)	missense	probably benign	0.20
R6048:Eif3i	UTSW	4	129,487,145 (GRCm39)	missense	probably benign	0.01
R7087:Eif3i	UTSW	4	129,486,104 (GRCm39)	missense	probably damaging	1.00
R7503:Eif3i	UTSW	4	129,494,207 (GRCm39)	missense	probably damaging	0.97
R8798:Eif3i	UTSW	4	129,490,717 (GRCm39)	missense	probably benign	0.00
R9652:Eif3i	UTSW	4	129,489,094 (GRCm39)	missense	probably benign
RF012:Eif3i	UTSW	4	129,485,872 (GRCm39)	missense	probably damaging	1.00
RF019:Eif3i	UTSW	4	129,494,258 (GRCm39)	missense	probably damaging	1.00
Z1176:Eif3i	UTSW	4	129,494,368 (GRCm39)	unclassified	probably benign

Posted On

2016-08-02