Mutagenetix > Incidental Mutation

Incidental Mutation 'R0036:Eif5b'

15771

Institutional Source

Beutler Lab

Gene Symbol

Eif5b

Ensembl Gene

ENSMUSG00000026083

Gene Name

eukaryotic translation initiation factor 5B

Synonyms

IF2, A030003E17Rik

MMRRC Submission

038330-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0036 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

38037091-38094660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38058192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 165 (S165T)

Ref Sequence

ENSEMBL: ENSMUSP00000027252 (fasta)

Gene Model

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

AlphaFold

Q05D44

Predicted Effect

probably benign
Transcript: ENSMUST00000027252
AA Change: S165T

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
AA Change: S165T

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

Meta Mutation Damage Score

0.0830

Coding Region Coverage

1x: 79.1%
3x: 69.3%
10x: 43.3%
20x: 23.5%

Validation Efficiency

91% (49/54)

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cfap44	A	G	16: 44,259,432 (GRCm39)	E1098G	possibly damaging	Het
Cfap95	A	T	19: 23,593,932 (GRCm39)		probably benign	Het
Ctsq	C	T	13: 61,185,485 (GRCm39)		probably null	Het
Dock9	C	T	14: 121,860,265 (GRCm39)	V886M	probably damaging	Het
Eaf2	T	C	16: 36,621,020 (GRCm39)	Y224C	probably benign	Het
Eln	A	G	5: 134,739,914 (GRCm39)		probably null	Het
Jakmip1	A	G	5: 37,291,648 (GRCm39)	K514R	probably null	Het
Myo1e	T	A	9: 70,248,590 (GRCm39)	W435R	probably damaging	Het
Nadsyn1	T	C	7: 143,365,028 (GRCm39)	I226V	probably benign	Het
Nedd4l	T	C	18: 65,184,194 (GRCm39)		probably benign	Het
Phrf1	T	C	7: 140,841,693 (GRCm39)	M1435T	probably damaging	Het
Ppic	A	T	18: 53,542,264 (GRCm39)	I148N	probably damaging	Het
Sdr16c6	C	A	4: 4,063,335 (GRCm39)		probably benign	Het
Sgo2a	T	C	1: 58,054,787 (GRCm39)	S324P	probably benign	Het
Slf1	G	T	13: 77,249,070 (GRCm39)	Q373K	probably benign	Het
Tfg	G	T	16: 56,511,358 (GRCm39)	Q324K	probably benign	Het
Wdr64	G	T	1: 175,556,496 (GRCm39)	G248*	probably null	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
IGL02308:Eif5b	APN	1	38,080,828 (GRCm39)	missense	probably damaging	1.00
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
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

2012-12-21