Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02166:Eif3b'

282708

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 #

IGL02166

Quality Score

Status

Chromosome

Chromosomal Location

140405083-140429115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140425705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 632 (C632S)

Ref Sequence

ENSEMBL: ENSMUSP00000098076 (fasta)

Gene Model

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

AlphaFold

Q8JZQ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100507
AA Change: C632S

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098076
Gene: ENSMUSG00000056076
AA Change: C632S

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

unknown
Transcript: ENSMUST00000199377
AA Change: C3S

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	A	G	13: 63,163,267 (GRCm39)	H96R	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cdh8	T	C	8: 99,917,083 (GRCm39)	D344G	probably damaging	Het
Ciao3	A	G	17: 25,999,294 (GRCm39)	D236G	possibly damaging	Het
Cltc	T	C	11: 86,594,914 (GRCm39)	I1399V	probably benign	Het
Col4a1	A	T	8: 11,294,509 (GRCm39)		probably benign	Het
Crtc3	C	T	7: 80,327,147 (GRCm39)	G60R	probably damaging	Het
Dscaml1	G	A	9: 45,594,999 (GRCm39)	V701M	probably damaging	Het
Ephb3	G	A	16: 21,039,499 (GRCm39)	R417Q	probably damaging	Het
Fpr3	T	C	17: 18,190,726 (GRCm39)		probably benign	Het
Hpdl	A	G	4: 116,678,149 (GRCm39)	V104A	probably damaging	Het
Ighv1-55	T	C	12: 115,171,840 (GRCm39)	S76G	probably benign	Het
Ikbip	T	C	10: 90,931,652 (GRCm39)	S99P	probably damaging	Het
Lnpk	T	C	2: 74,360,061 (GRCm39)	E318G	probably damaging	Het
Lrrc66	G	A	5: 73,764,634 (GRCm39)	T803M	probably damaging	Het
Nxf2	C	A	X: 133,857,878 (GRCm39)	W89L	possibly damaging	Het
Or2y11	A	G	11: 49,442,757 (GRCm39)	Y61C	probably damaging	Het
Or5d46	A	T	2: 88,170,022 (GRCm39)	I38F	probably damaging	Het
Or6c3b	T	A	10: 129,527,782 (GRCm39)	I43F	probably benign	Het
Osbp2	A	T	11: 3,667,983 (GRCm39)	C5S	probably damaging	Het
Ovol2	T	C	2: 144,147,650 (GRCm39)	N200S	possibly damaging	Het
Ppp4r1	A	G	17: 66,120,487 (GRCm39)	D207G	probably benign	Het
Prdm11	C	T	2: 92,843,208 (GRCm39)	V84M	probably damaging	Het
Rspo3	T	A	10: 29,411,275 (GRCm39)	E17V	possibly damaging	Het
Scarf2	A	G	16: 17,621,620 (GRCm39)	N357D	probably damaging	Het
Scn9a	A	T	2: 66,323,447 (GRCm39)	D1447E	possibly damaging	Het
Sdad1	G	A	5: 92,439,621 (GRCm39)	T433I	probably benign	Het
Seh1l	A	G	18: 67,918,093 (GRCm39)	N149S	probably damaging	Het
Sigirr	T	C	7: 140,672,140 (GRCm39)	I268M	probably benign	Het
Slc35d2	A	G	13: 64,246,162 (GRCm39)	F282S	probably damaging	Het
Slc4a1	A	T	11: 102,245,159 (GRCm39)	M596K	probably damaging	Het
Spta1	G	A	1: 174,017,797 (GRCm39)	E494K	probably damaging	Het
Stk32b	C	A	5: 37,656,374 (GRCm39)		probably benign	Het
Tex13b	T	C	X: 139,713,475 (GRCm39)	E122G	probably damaging	Het
Tmem35a	A	G	X: 133,205,357 (GRCm39)	N91S	probably damaging	Het
Tmem67	A	G	4: 12,047,313 (GRCm39)	V841A	possibly damaging	Het
Trdv2-1	A	G	14: 54,184,068 (GRCm39)	D100G	probably benign	Het
Tshz3	T	C	7: 36,468,346 (GRCm39)	S112P	probably benign	Het
Tssc4	T	C	7: 142,623,938 (GRCm39)	M82T	probably benign	Het
Ttn	A	G	2: 76,562,723 (GRCm39)	S28744P	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vim	T	C	2: 13,579,405 (GRCm39)	S55P	probably damaging	Het
Zmat5	T	A	11: 4,687,363 (GRCm39)	Y139N	possibly damaging	Het
Zswim2	G	A	2: 83,745,750 (GRCm39)	Q563*	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
IGL02169:Eif3b	APN	5	140,415,836 (GRCm39)	missense	possibly damaging	0.92
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