Mutagenetix > Incidental Mutation

Incidental Mutation 'R7087:Eif3i'

549948

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

045181-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7087 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129485767-129494441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 129486104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 284 (H284Q)

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: H284Q

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

SMART Domains

Protein: ENSMUSP00000099653
Gene: ENSMUSG00000028798
AA Change: H284Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	T	A	7: 119,373,870 (GRCm39)	V252D	probably damaging	Het
Adprhl1	A	G	8: 13,271,856 (GRCm39)	L1634P	probably damaging	Het
Arhgef4	A	T	1: 34,850,767 (GRCm39)	R438W	probably damaging	Het
Asb3	A	C	11: 30,948,321 (GRCm39)	K38T	probably benign	Het
Atp1a4	A	T	1: 172,074,269 (GRCm39)	L328Q	probably damaging	Het
BC030500	T	A	8: 59,365,388 (GRCm39)	I13N	unknown	Het
Cbarp	A	G	10: 79,972,242 (GRCm39)	S136P	probably damaging	Het
Ccdc18	T	A	5: 108,343,988 (GRCm39)	D910E	probably benign	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Cmya5	A	G	13: 93,227,483 (GRCm39)	V2535A	probably benign	Het
Ddx39b	C	T	17: 35,472,025 (GRCm39)	R355C	probably damaging	Het
Dock10	T	C	1: 80,570,543 (GRCm39)	T338A	probably benign	Het
Dpysl3	T	C	18: 43,496,595 (GRCm39)	D147G	probably damaging	Het
Erbb4	A	T	1: 68,779,650 (GRCm39)	L42Q	probably null	Het
Exoc3l2	A	G	7: 19,203,582 (GRCm39)	E58G		Het
Fgf18	C	T	11: 33,074,677 (GRCm39)	R98Q	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gp2	T	A	7: 119,049,455 (GRCm39)	T361S	probably damaging	Het
Gtsf1	A	T	15: 103,333,876 (GRCm39)	H33Q	probably damaging	Het
Hoxa4	G	A	6: 52,168,271 (GRCm39)	T133M	probably damaging	Het
Hspb7	C	A	4: 141,149,866 (GRCm39)	T84K	possibly damaging	Het
Kcnq4	C	T	4: 120,561,596 (GRCm39)	R491H	probably damaging	Het
Kdm7a	C	T	6: 39,152,315 (GRCm39)	R127H	probably benign	Het
Lsm10	C	T	4: 125,991,952 (GRCm39)	R103C	probably damaging	Het
Mgme1	T	C	2: 144,114,101 (GRCm39)	S68P	probably damaging	Het
Nes	G	T	3: 87,887,065 (GRCm39)	V1775L	probably benign	Het
Nfrkb	C	T	9: 31,331,228 (GRCm39)	Q1250*	probably null	Het
Or4s2	T	C	2: 88,473,197 (GRCm39)	F29L	probably damaging	Het
Phf21b	A	T	15: 84,676,033 (GRCm39)	L338H	probably damaging	Het
Pira12	G	A	7: 3,900,218 (GRCm39)	A128V	probably benign	Het
Ppp2r5b	A	G	19: 6,282,580 (GRCm39)	V190A	possibly damaging	Het
Prmt1	T	C	7: 44,631,007 (GRCm39)		probably null	Het
Rusc1	A	G	3: 88,996,799 (GRCm39)	V639A	probably damaging	Het
Slc24a2	T	A	4: 86,909,456 (GRCm39)		probably null	Het
Slc39a10	T	C	1: 46,874,880 (GRCm39)	T141A	probably damaging	Het
Spta1	A	T	1: 174,002,076 (GRCm39)	M69L	probably benign	Het
St8sia5	A	C	18: 77,342,238 (GRCm39)	Q316P	possibly damaging	Het
Svs3a	T	C	2: 164,131,717 (GRCm39)	I96T	possibly damaging	Het
Syne1	T	A	10: 5,492,024 (GRCm39)		probably benign	Het
Trappc3	T	C	4: 126,166,474 (GRCm39)	S16P	probably benign	Het
Vmn2r44	A	T	7: 8,381,366 (GRCm39)	F176I	probably benign	Het
Wnk1	C	T	6: 120,014,491 (GRCm39)	E35K	possibly damaging	Het
Zfp354c	A	G	11: 50,706,040 (GRCm39)	L345P	probably damaging	Het
Zfp608	T	A	18: 55,032,469 (GRCm39)	K490N	probably damaging	Het
Zfp687	A	C	3: 94,917,524 (GRCm39)	S709A	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
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
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
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'- TGGATGCGGACGTAACCATC -3'
(R):5'- ACGTTTGAGTAGTTTGCCTATAGC -3'

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

Posted On

2019-05-15