Mutagenetix > Incidental Mutation

Incidental Mutation 'R4781:Eif3i'

366481

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

042415-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R4781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129591960-129600648 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129595273 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 83 (S83G)

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: S131G

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099653
Gene: ENSMUSG00000028798
AA Change: S131G

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
AA Change: S83G

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120776
Gene: ENSMUSG00000028798
AA Change: S83G

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

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,571,651	I157N	probably damaging	Het
Adgrl3	T	C	5: 81,760,724	Y1165H	probably damaging	Het
Adra2a	A	G	19: 54,046,495	D94G	probably damaging	Het
Akr1c20	T	A	13: 4,508,175	K197*	probably null	Het
Ankrd65	C	T	4: 155,793,036	H335Y	possibly damaging	Het
Axin2	T	A	11: 108,943,856	L636Q	probably damaging	Het
BC147527	A	C	13: 120,308,162	K6T	possibly damaging	Het
Camk1g	G	T	1: 193,356,344	T90N	probably benign	Het
Cd177	C	A	7: 24,750,626	C528F	probably damaging	Het
Cntnap5a	A	T	1: 116,412,201	D730V	possibly damaging	Het
Crtap	T	C	9: 114,386,236	D195G	probably benign	Het
Csn1s2b	A	G	5: 87,819,093	S74G	possibly damaging	Het
Cyp3a16	T	C	5: 145,456,112	R128G	possibly damaging	Het
Dnah7a	A	G	1: 53,425,208	F3675L	probably benign	Het
Dram2	T	A	3: 106,571,676	W195R	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057	P297L	probably benign	Het
Gabra1	G	A	11: 42,133,661	P396S	probably damaging	Het
Gipr	T	A	7: 19,157,375	Y459F	possibly damaging	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm6981	T	C	9: 52,002,756		noncoding transcript	Het
Grin2d	T	C	7: 45,862,481	D180G	probably damaging	Het
Hectd4	T	G	5: 121,306,107		probably null	Het
Hhat	T	C	1: 192,686,979		probably benign	Het
Hoxa6	A	G	6: 52,206,420	L215P	possibly damaging	Het
Hsf4	G	A	8: 105,274,752		probably null	Het
Igf1r	G	A	7: 68,165,199	A283T	possibly damaging	Het
Ighv15-2	A	G	12: 114,564,856	S25P	probably damaging	Het
Inpp5a	C	T	7: 139,478,005	T43I	probably benign	Het
Kmt2c	T	A	5: 25,443,825	E82V	probably damaging	Het
Lrrc31	A	G	3: 30,687,377		probably benign	Het
Mdga2	A	G	12: 66,797,622		probably null	Het
Mefv	G	A	16: 3,715,334	P358S	probably benign	Het
Mrgpra9	A	G	7: 47,235,047	F291L	possibly damaging	Het
Mtmr3	A	G	11: 4,488,435	L673P	probably benign	Het
Muc19	T	C	15: 91,903,166		noncoding transcript	Het
Myo5b	A	T	18: 74,744,681	T1584S	possibly damaging	Het
Olfr1375	A	T	11: 51,048,480	R124S	probably damaging	Het
Olfr1427	T	C	19: 12,099,367	T91A	probably benign	Het
Palld	G	T	8: 61,877,028	R272S	probably benign	Het
Pcnx3	T	A	19: 5,687,130	N144Y	probably damaging	Het
Prf1	A	G	10: 61,300,424	K160E	probably damaging	Het
Rasgrp1	G	A	2: 117,291,709	A400V	probably benign	Het
Rnf150	A	G	8: 82,864,152	Y48C	probably damaging	Het
Rpl11	G	T	4: 136,050,288	Q170K	probably benign	Het
Scin	G	A	12: 40,081,764	A257V	possibly damaging	Het
Scn7a	C	A	2: 66,703,760	A524S	possibly damaging	Het
Sim1	T	C	10: 50,983,785	L581S	probably benign	Het
Skor1	T	C	9: 63,144,459	T715A	probably benign	Het
Slc22a26	A	G	19: 7,790,135	V301A	probably benign	Het
Sorcs1	T	C	19: 50,182,681	Y923C	probably damaging	Het
Src	T	A	2: 157,467,485	M304K	possibly damaging	Het
Srgap3	A	T	6: 112,757,425		probably benign	Het
Stard3	G	A	11: 98,372,334	E72K	possibly damaging	Het
Svep1	T	A	4: 58,070,340	N2482I	probably damaging	Het
Tbc1d23	T	C	16: 57,218,415	K20R	possibly damaging	Het
Tfip11	G	A	5: 112,333,399	E414K	probably damaging	Het
Tinag	G	T	9: 76,996,950	T397K	possibly damaging	Het
Traf7	C	G	17: 24,510,438		probably benign	Het
Trmt10b	T	A	4: 45,305,817	I164N	probably damaging	Het
Trpm1	A	G	7: 64,235,052	D827G	probably benign	Het
Ube2u	A	T	4: 100,486,658	T85S	probably benign	Het
Ulk4	T	C	9: 121,103,576	D1066G	probably benign	Het
Vmn2r72	T	A	7: 85,737,861	I832F	probably benign	Het
Yipf1	A	C	4: 107,336,158	E80D	probably benign	Het
Zfp40	T	A	17: 23,175,655	R653W	probably damaging	Het
Zxdc	A	G	6: 90,372,553	T308A	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
R0783:Eif3i	UTSW	4	129592076	missense	possibly damaging	0.85
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
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'- GCGCTATACTGGTTGAGCTC -3'
(R):5'- CGCCCTGTGATAGCATTAGAC -3'

Sequencing Primer
(F):5'- ATACTGGTTGAGCTCTCCGC -3'
(R):5'- CCCTGTGATAGCATTAGACCAGAGTG -3'

Posted On

2015-12-21