Mutagenetix > Incidental Mutation

Incidental Mutation 'R3978:Eif3i'

311114

Institutional Source

Beutler Lab

Gene Symbol

Eif3i

Ensembl Gene

ENSMUSG00000028798

Gene Name

eukaryotic translation initiation factor 3, subunit I

Synonyms

D4Ertd632e, Eif3s2, TRIP-1, 36kDa

MMRRC Submission

040941-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R3978 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129485767-129494441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129486129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 276 (E276G)

Ref Sequence

ENSEMBL: ENSMUSP00000099653 (fasta)

Gene Model

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

AlphaFold

Q9QZD9

Predicted Effect

probably damaging
Transcript: ENSMUST00000102593
AA Change: E276G

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

SMART Domains

Protein: ENSMUSP00000099653
Gene: ENSMUSG00000028798
AA Change: E276G

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

0.5718

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,435 (GRCm39)	T61A	probably benign	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Ano5	G	A	7: 51,237,554 (GRCm39)	V743I	probably benign	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
Arid2	A	G	15: 96,261,503 (GRCm39)	D453G	probably damaging	Het
Atp2b1	C	A	10: 98,832,795 (GRCm39)		probably null	Het
Azin1	A	T	15: 38,498,957 (GRCm39)	N135K	probably damaging	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Cfap54	T	C	10: 92,798,274 (GRCm39)	T1662A	probably benign	Het
Cog8	T	A	8: 107,779,669 (GRCm39)	I203F	probably damaging	Het
Col6a6	T	C	9: 105,576,078 (GRCm39)	H2094R	probably damaging	Het
Cybb	T	C	X: 9,310,827 (GRCm39)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Dpyd	AAAT	AAATGTATATAAAT	3: 118,690,737 (GRCm39)		probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,690,738 (GRCm39)		probably benign	Het
Fam171a1	A	C	2: 3,226,072 (GRCm39)	M402L	probably benign	Het
Fga	A	T	3: 82,937,490 (GRCm39)		probably null	Het
Foxp2	A	G	6: 15,197,207 (GRCm39)		probably benign	Het
Gbp2	C	T	3: 142,335,747 (GRCm39)	T149I	possibly damaging	Het
Gm9631	A	G	11: 121,834,394 (GRCm39)	Y281H	possibly damaging	Het
Gpr21	C	T	2: 37,407,862 (GRCm39)	T136I	probably benign	Het
Gprc5b	C	T	7: 118,583,354 (GRCm39)	V172M	probably damaging	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
Hdlbp	T	C	1: 93,349,073 (GRCm39)	I535V	probably damaging	Het
Helb	A	G	10: 119,925,530 (GRCm39)	V949A	probably benign	Het
Hoxc13	T	C	15: 102,829,675 (GRCm39)	V18A	possibly damaging	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Il27ra	G	A	8: 84,767,313 (GRCm39)	T170I	probably benign	Het
Insm2	T	C	12: 55,647,623 (GRCm39)	Y456H	probably benign	Het
Katna1	T	C	10: 7,628,518 (GRCm39)	M249T	probably damaging	Het
Lin9	T	A	1: 180,496,357 (GRCm39)	I298N	possibly damaging	Het
Lyst	G	A	13: 13,808,753 (GRCm39)	R141Q	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or5p61	A	G	7: 107,758,819 (GRCm39)	M87T	possibly damaging	Het
Pdgfrb	A	T	18: 61,206,757 (GRCm39)	H661L	probably damaging	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Ppp1ca	T	C	19: 4,242,253 (GRCm39)	I13T	probably benign	Het
Psmd1	T	C	1: 86,055,909 (GRCm39)	M757T	probably benign	Het
Rdh19	A	T	10: 127,685,944 (GRCm39)	R19W	possibly damaging	Het
Rfx7	A	G	9: 72,522,393 (GRCm39)	T296A	possibly damaging	Het
Rgl2	G	A	17: 34,154,136 (GRCm39)	R472H	probably benign	Het
Rhcg	T	C	7: 79,267,147 (GRCm39)	E43G	probably benign	Het
Rif1	T	A	2: 52,006,759 (GRCm39)		probably null	Het
Rorb	A	G	19: 18,915,254 (GRCm39)	V468A	probably benign	Het
Rxrb	C	T	17: 34,255,300 (GRCm39)	P209L	possibly damaging	Het
Sbf2	G	T	7: 109,929,092 (GRCm39)	T1438K	probably benign	Het
Setd3	A	T	12: 108,124,201 (GRCm39)	C163S	possibly damaging	Het
Slc15a1	C	T	14: 121,727,239 (GRCm39)	D110N	probably benign	Het
Slc26a3	T	A	12: 31,515,859 (GRCm39)		probably null	Het
Slc5a5	A	G	8: 71,342,039 (GRCm39)	V305A	probably benign	Het
Slc6a6	A	T	6: 91,732,033 (GRCm39)	M621L	probably benign	Het
Smgc	A	T	15: 91,744,546 (GRCm39)	D301V	probably damaging	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Syt15	T	A	14: 33,945,061 (GRCm39)	C203S	probably benign	Het
Tdrd1	A	G	19: 56,855,066 (GRCm39)	R1171G	probably benign	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Tspan9	A	G	6: 127,944,210 (GRCm39)	V30A	probably damaging	Het
Ubp1	A	T	9: 113,785,773 (GRCm39)		probably null	Het
Vmn2r68	T	A	7: 84,881,670 (GRCm39)	Y470F	probably benign	Het
Wbp1l	T	A	19: 46,642,396 (GRCm39)		probably null	Het
Wee1	G	T	7: 109,723,762 (GRCm39)	D226Y	probably damaging	Het
Yap1	C	T	9: 8,004,285 (GRCm39)	G36D	probably damaging	Het
Zmym6	T	C	4: 127,017,348 (GRCm39)	I951T	possibly damaging	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
IGL02975:Eif3i	APN	4	129,489,105 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GACGTAACCATCTTCGCCAC -3'
(R):5'- GAACAGACGTTTGAGTAGTTTGCC -3'

Sequencing Primer
(F):5'- TTCGCCACCGCTGCTGTAG -3'
(R):5'- TGAGTAGTTTGCCTATAGCTCATC -3'

Posted On

2015-04-29