Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02308:Eif5b'

287682

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif5b

Ensembl Gene

ENSMUSG00000026083

Gene Name

eukaryotic translation initiation factor 5B

Synonyms

IF2, A030003E17Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02308

Quality Score

Status

Chromosome

Chromosomal Location

38037091-38094660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38080828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 723 (V723D)

Ref Sequence

ENSEMBL: ENSMUSP00000027252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027252]

AlphaFold

Q05D44

Predicted Effect

probably damaging
Transcript: ENSMUST00000027252
AA Change: V723D

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

SMART Domains

Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
AA Change: V723D

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
low complexity region	33	51	N/A	INTRINSIC
low complexity region	94	106	N/A	INTRINSIC
low complexity region	110	126	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
low complexity region	183	193	N/A	INTRINSIC
coiled coil region	227	272	N/A	INTRINSIC
coiled coil region	301	414	N/A	INTRINSIC
low complexity region	480	498	N/A	INTRINSIC
coiled coil region	523	554	N/A	INTRINSIC
low complexity region	580	594	N/A	INTRINSIC
Pfam:GTP_EFTU	625	840	4.7e-35	PFAM
Pfam:MMR_HSR1	629	753	5.1e-6	PFAM
Pfam:GTP_EFTU_D2	866	944	7.1e-11	PFAM
Pfam:IF-2	959	1066	1.4e-20	PFAM
Blast:S1	1116	1172	2e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195664

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Accurate initiation of translation in eukaryotes is complex and requires many factors, some of which are composed of multiple subunits. The process is simpler in prokaryotes which have only three initiation factors (IF1, IF2, IF3). Two of these factors are conserved in eukaryotes: the homolog of IF1 is eIF1A and the homolog of IF2 is eIF5B. This gene encodes eIF5B. Factors eIF1A and eIF5B interact on the ribosome along with other initiation factors and GTP to position the initiation methionine tRNA on the start codon of the mRNA so that translation initiates accurately. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	A	11: 72,093,308 (GRCm39)	S8F	probably damaging	Het
Alpk1	T	A	3: 127,522,931 (GRCm39)	Q37L	probably damaging	Het
Cfap43	T	C	19: 47,736,463 (GRCm39)	T1343A	probably benign	Het
Cmbl	C	A	15: 31,585,554 (GRCm39)	P146Q	possibly damaging	Het
Cog2	A	T	8: 125,259,951 (GRCm39)		probably null	Het
Dgkh	C	A	14: 78,825,016 (GRCm39)	V880L	probably benign	Het
Dop1a	T	C	9: 86,402,141 (GRCm39)	S1114P	probably damaging	Het
Gdf11	A	G	10: 128,721,253 (GRCm39)	Y314H	probably damaging	Het
Gm10110	T	C	14: 90,135,031 (GRCm39)		noncoding transcript	Het
Gria1	G	A	11: 57,127,750 (GRCm39)	V320I	probably benign	Het
H2-Q10	T	A	17: 35,784,463 (GRCm39)	*326R	probably null	Het
Irx6	T	A	8: 93,403,659 (GRCm39)	L128Q	probably damaging	Het
Kif21b	T	A	1: 136,087,495 (GRCm39)	L937Q	probably damaging	Het
Lama5	A	G	2: 179,832,120 (GRCm39)		probably benign	Het
Mios	A	G	6: 8,231,269 (GRCm39)	I718V	probably benign	Het
Mroh8	A	G	2: 157,096,893 (GRCm39)	V318A	probably damaging	Het
Nags	A	G	11: 102,039,897 (GRCm39)	*528W	probably null	Het
Nom1	T	A	5: 29,642,708 (GRCm39)	V403D	probably damaging	Het
Npffr2	C	A	5: 89,731,310 (GRCm39)	N413K	probably benign	Het
Olr1	C	T	6: 129,476,860 (GRCm39)	R135K	possibly damaging	Het
Or1e34	A	T	11: 73,779,121 (GRCm39)	Y26N	probably benign	Het
Or52e8	T	A	7: 104,624,665 (GRCm39)	I176F	possibly damaging	Het
Pkhd1	A	G	1: 20,140,600 (GRCm39)		probably null	Het
Ptpro	A	G	6: 137,431,698 (GRCm39)	M1158V	probably benign	Het
Sh3d19	A	G	3: 86,001,017 (GRCm39)	K238E	probably damaging	Het
Smarcc2	G	T	10: 128,318,641 (GRCm39)	R641L	probably damaging	Het
Th	T	C	7: 142,451,794 (GRCm39)	E75G	possibly damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Top6bl	T	C	19: 4,713,583 (GRCm39)	K132E	probably damaging	Het
Ttn	G	A	2: 76,724,705 (GRCm39)	R2107*	probably null	Het
Ubr2	A	T	17: 47,245,119 (GRCm39)	C1636S	probably damaging	Het
Vmn2r100	T	A	17: 19,741,597 (GRCm39)	I103K	possibly damaging	Het
Vmn2r88	A	G	14: 51,655,437 (GRCm39)	M558V	possibly damaging	Het
Zzef1	G	A	11: 72,777,573 (GRCm39)	M1801I	probably benign	Het

Other mutations in Eif5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Eif5b	APN	1	38,080,800 (GRCm39)	missense	probably damaging	1.00
IGL01377:Eif5b	APN	1	38,075,179 (GRCm39)	missense	probably benign
IGL01395:Eif5b	APN	1	38,076,339 (GRCm39)	missense	probably damaging	0.96
IGL01572:Eif5b	APN	1	38,061,335 (GRCm39)	nonsense	probably null
IGL01615:Eif5b	APN	1	38,084,787 (GRCm39)	missense	probably damaging	1.00
IGL02141:Eif5b	APN	1	38,071,403 (GRCm39)	missense	probably benign	0.09
IGL02260:Eif5b	APN	1	38,084,537 (GRCm39)	missense	possibly damaging	0.81
IGL03180:Eif5b	APN	1	38,075,350 (GRCm39)	missense	probably damaging	1.00
IGL03327:Eif5b	APN	1	38,080,772 (GRCm39)	splice site	probably benign
R0018:Eif5b	UTSW	1	38,057,970 (GRCm39)	missense	unknown
R0036:Eif5b	UTSW	1	38,058,192 (GRCm39)	missense	probably benign	0.23
R0137:Eif5b	UTSW	1	38,058,324 (GRCm39)	missense	probably benign	0.23
R0349:Eif5b	UTSW	1	38,071,447 (GRCm39)	missense	probably benign	0.18
R0606:Eif5b	UTSW	1	38,087,974 (GRCm39)	missense	probably damaging	1.00
R1056:Eif5b	UTSW	1	38,061,248 (GRCm39)	missense	unknown
R1225:Eif5b	UTSW	1	38,076,709 (GRCm39)	missense	probably damaging	1.00
R2043:Eif5b	UTSW	1	38,080,900 (GRCm39)	missense	probably damaging	1.00
R2163:Eif5b	UTSW	1	38,087,875 (GRCm39)	missense	probably benign	0.32
R2225:Eif5b	UTSW	1	38,058,304 (GRCm39)	missense	unknown
R2432:Eif5b	UTSW	1	38,058,423 (GRCm39)	missense	unknown
R2922:Eif5b	UTSW	1	38,057,100 (GRCm39)	splice site	probably benign
R4357:Eif5b	UTSW	1	38,089,339 (GRCm39)	missense	probably damaging	1.00
R4631:Eif5b	UTSW	1	38,080,828 (GRCm39)	missense	probably damaging	1.00
R4665:Eif5b	UTSW	1	38,084,793 (GRCm39)	missense	probably damaging	1.00
R4702:Eif5b	UTSW	1	38,057,958 (GRCm39)	missense	unknown
R4941:Eif5b	UTSW	1	38,090,280 (GRCm39)	missense	probably damaging	1.00
R4995:Eif5b	UTSW	1	38,090,792 (GRCm39)	makesense	probably null
R5020:Eif5b	UTSW	1	38,058,150 (GRCm39)	nonsense	probably null
R5175:Eif5b	UTSW	1	38,084,468 (GRCm39)	missense	probably damaging	1.00
R5375:Eif5b	UTSW	1	38,084,835 (GRCm39)	missense	possibly damaging	0.66
R5566:Eif5b	UTSW	1	38,084,765 (GRCm39)	missense	possibly damaging	0.90
R5566:Eif5b	UTSW	1	38,090,328 (GRCm39)	missense	probably damaging	1.00
R5853:Eif5b	UTSW	1	38,076,388 (GRCm39)	missense	probably damaging	1.00
R5978:Eif5b	UTSW	1	38,037,361 (GRCm39)	splice site	probably null
R6315:Eif5b	UTSW	1	38,057,114 (GRCm39)	missense	unknown
R6376:Eif5b	UTSW	1	38,084,760 (GRCm39)	missense	probably damaging	0.98
R6388:Eif5b	UTSW	1	38,058,081 (GRCm39)	missense	unknown
R6444:Eif5b	UTSW	1	38,075,292 (GRCm39)	missense	probably damaging	1.00
R6455:Eif5b	UTSW	1	38,058,108 (GRCm39)	missense	probably benign	0.23
R6810:Eif5b	UTSW	1	38,085,741 (GRCm39)	missense	probably benign	0.45
R6877:Eif5b	UTSW	1	38,089,320 (GRCm39)	missense	probably damaging	1.00
R7130:Eif5b	UTSW	1	38,080,857 (GRCm39)	missense	probably damaging	1.00
R7180:Eif5b	UTSW	1	38,088,155 (GRCm39)	missense	probably damaging	0.98
R7439:Eif5b	UTSW	1	38,090,718 (GRCm39)	missense	probably benign	0.28
R7488:Eif5b	UTSW	1	38,089,387 (GRCm39)	missense	possibly damaging	0.69
R8140:Eif5b	UTSW	1	38,090,357 (GRCm39)	missense	probably benign	0.41
R8166:Eif5b	UTSW	1	38,087,901 (GRCm39)	missense	probably benign	0.11
R8191:Eif5b	UTSW	1	38,075,283 (GRCm39)	missense	probably damaging	0.98
R8304:Eif5b	UTSW	1	38,084,774 (GRCm39)	missense	probably benign	0.11
R8549:Eif5b	UTSW	1	38,076,288 (GRCm39)	missense	possibly damaging	0.96
R8558:Eif5b	UTSW	1	38,083,795 (GRCm39)	missense	probably damaging	0.99
R8893:Eif5b	UTSW	1	38,090,300 (GRCm39)	missense	possibly damaging	0.48
R9452:Eif5b	UTSW	1	38,084,861 (GRCm39)	missense	probably damaging	1.00
R9487:Eif5b	UTSW	1	38,084,560 (GRCm39)	missense	probably damaging	0.99
R9487:Eif5b	UTSW	1	38,058,451 (GRCm39)	nonsense	probably null
R9542:Eif5b	UTSW	1	38,057,131 (GRCm39)	nonsense	probably null
R9721:Eif5b	UTSW	1	38,076,740 (GRCm39)	critical splice donor site	probably null
R9745:Eif5b	UTSW	1	38,084,729 (GRCm39)	missense	probably damaging	1.00
R9748:Eif5b	UTSW	1	38,090,241 (GRCm39)	missense	possibly damaging	0.89
RF018:Eif5b	UTSW	1	38,060,673 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-04-16