Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02169:Eif3b'

282823

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif3b

Ensembl Gene

ENSMUSG00000056076

Gene Name

eukaryotic translation initiation factor 3, subunit B

Synonyms

EIF3-P116, Eif3s9, D5Wsu45e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02169

Quality Score

Status

Chromosome

Chromosomal Location

140405083-140429115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140415836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 385 (D385G)

Ref Sequence

ENSEMBL: ENSMUSP00000098076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100507]

AlphaFold

Q8JZQ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100507
AA Change: D385G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098076
Gene: ENSMUSG00000056076
AA Change: D385G

Domain	Start	End	E-Value	Type
low complexity region	4	25	N/A	INTRINSIC
low complexity region	46	59	N/A	INTRINSIC
low complexity region	111	128	N/A	INTRINSIC
RRM	175	253	4.14e-7	SMART
Blast:WD40	317	350	4e-7	BLAST
Blast:WD40	354	397	2e-7	BLAST
Pfam:eIF2A	496	691	1.3e-68	PFAM
low complexity region	700	719	N/A	INTRINSIC
low complexity region	784	797	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197632

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous embryos die prenatally prior to the blastocyst stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,843,408 (GRCm39)	I1001F	probably damaging	Het
Amfr	A	T	8: 94,731,858 (GRCm39)		probably null	Het
Apol7c	T	G	15: 77,410,616 (GRCm39)	D110A	possibly damaging	Het
Bcr	A	G	10: 74,995,714 (GRCm39)	N899S	probably benign	Het
Ccnt2	T	A	1: 127,702,126 (GRCm39)		probably benign	Het
Clptm1l	G	A	13: 73,759,782 (GRCm39)	V281I	probably damaging	Het
Ctsr	A	G	13: 61,311,054 (GRCm39)		probably benign	Het
Dbh	G	A	2: 27,064,910 (GRCm39)	V374M	probably damaging	Het
F830045P16Rik	A	G	2: 129,305,492 (GRCm39)	V294A	probably damaging	Het
Foxj2	A	G	6: 122,805,425 (GRCm39)	N99S	probably damaging	Het
Gabrr1	T	G	4: 33,160,261 (GRCm39)	V315G	probably damaging	Het
Gm21988	T	C	11: 70,129,764 (GRCm39)	E25G	probably benign	Het
Islr	A	T	9: 58,065,415 (GRCm39)	F31I	possibly damaging	Het
L2hgdh	A	T	12: 69,768,171 (GRCm39)	L109Q	probably damaging	Het
Lrp6	A	G	6: 134,490,290 (GRCm39)	I96T	probably damaging	Het
Nup93	A	G	8: 95,028,757 (GRCm39)	D330G	probably damaging	Het
Or2ag19	T	A	7: 106,444,473 (GRCm39)	Y218*	probably null	Het
Or8k33	T	C	2: 86,384,226 (GRCm39)	M81V	probably benign	Het
Phtf1	C	A	3: 103,904,815 (GRCm39)	L488I	probably benign	Het
Plac8l1	T	C	18: 42,312,008 (GRCm39)	D137G	probably damaging	Het
Pth1r	G	A	9: 110,553,503 (GRCm39)	T392I	probably damaging	Het
Rab43	A	G	6: 87,788,406 (GRCm39)	F41L	probably damaging	Het
Ralgapb	C	T	2: 158,268,124 (GRCm39)	L76F	probably damaging	Het
Ros1	A	G	10: 51,958,053 (GRCm39)		probably null	Het
Rpl27a	T	C	7: 109,119,185 (GRCm39)	I43T	probably benign	Het
Set	G	A	2: 29,959,536 (GRCm39)	D129N	possibly damaging	Het
Sorbs2	A	T	8: 46,276,786 (GRCm39)	Y604F	probably damaging	Het
Tg	T	C	15: 66,629,792 (GRCm39)	V491A	probably benign	Het
Txlna	T	C	4: 129,523,406 (GRCm39)	T429A	probably damaging	Het
Vmn1r128	C	T	7: 21,084,163 (GRCm39)	P289L	probably damaging	Het
Wfs1	A	G	5: 37,125,823 (GRCm39)	F356S	probably damaging	Het
Zfp687	G	A	3: 94,918,743 (GRCm39)	T343I	probably damaging	Het
Zfp935	A	G	13: 62,604,745 (GRCm39)		probably null	Het

Other mutations in Eif3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Eif3b	APN	5	140,426,862 (GRCm39)	missense	probably damaging	0.99
IGL01295:Eif3b	APN	5	140,427,495 (GRCm39)	missense	possibly damaging	0.77
IGL01539:Eif3b	APN	5	140,416,008 (GRCm39)	splice site	probably benign
IGL01897:Eif3b	APN	5	140,411,202 (GRCm39)	missense	possibly damaging	0.69
IGL02166:Eif3b	APN	5	140,425,705 (GRCm39)	missense	possibly damaging	0.72
hangman	UTSW	5	140,405,592 (GRCm39)	splice site	probably benign
hemp	UTSW	5	140,411,077 (GRCm39)	missense	probably damaging	0.97
R0783:Eif3b	UTSW	5	140,405,592 (GRCm39)	splice site	probably benign
R1727:Eif3b	UTSW	5	140,411,077 (GRCm39)	missense	probably damaging	0.97
R1909:Eif3b	UTSW	5	140,418,692 (GRCm39)	missense	probably damaging	1.00
R2062:Eif3b	UTSW	5	140,412,208 (GRCm39)	missense	probably damaging	1.00
R2258:Eif3b	UTSW	5	140,413,258 (GRCm39)	missense	possibly damaging	0.79
R4738:Eif3b	UTSW	5	140,415,833 (GRCm39)	missense	probably benign	0.01
R4752:Eif3b	UTSW	5	140,426,856 (GRCm39)	missense	probably benign	0.08
R4774:Eif3b	UTSW	5	140,405,255 (GRCm39)	missense	probably benign
R5342:Eif3b	UTSW	5	140,411,035 (GRCm39)	missense	probably damaging	1.00
R5790:Eif3b	UTSW	5	140,427,886 (GRCm39)	missense	probably benign	0.42
R6286:Eif3b	UTSW	5	140,405,566 (GRCm39)	missense	probably damaging	0.99
R7027:Eif3b	UTSW	5	140,411,043 (GRCm39)	missense	probably damaging	0.99
R7293:Eif3b	UTSW	5	140,405,183 (GRCm39)	missense	probably benign
R7561:Eif3b	UTSW	5	140,428,109 (GRCm39)	missense	probably benign	0.04
R7585:Eif3b	UTSW	5	140,425,757 (GRCm39)	missense	probably damaging	1.00
R8170:Eif3b	UTSW	5	140,412,530 (GRCm39)	splice site	probably null
R8853:Eif3b	UTSW	5	140,425,774 (GRCm39)	missense	probably damaging	0.99
R8864:Eif3b	UTSW	5	140,412,287 (GRCm39)	missense	probably benign	0.16
R8958:Eif3b	UTSW	5	140,411,194 (GRCm39)	missense	probably benign	0.08
R9286:Eif3b	UTSW	5	140,411,064 (GRCm39)	missense	probably benign
Z1177:Eif3b	UTSW	5	140,415,883 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16