Mutagenetix > Incidental Mutation

Incidental Mutation 'R0137:Eif5b'

21992

Institutional Source

Beutler Lab

Gene Symbol

Eif5b

Ensembl Gene

ENSMUSG00000026083

Gene Name

eukaryotic translation initiation factor 5B

Synonyms

IF2, A030003E17Rik

MMRRC Submission

038422-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0137 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

38037091-38094660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 38058324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 209 (S209A)

Ref Sequence

ENSEMBL: ENSMUSP00000027252 (fasta)

Gene Model

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

AlphaFold

Q05D44

Predicted Effect

probably benign
Transcript: ENSMUST00000027252
AA Change: S209A

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

SMART Domains

Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
AA Change: S209A

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

95% (94/99)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	T	8: 120,878,115 (GRCm39)	H190L	possibly damaging	Het
Adap1	A	G	5: 139,278,976 (GRCm39)		probably benign	Het
Adgra3	C	T	5: 50,121,182 (GRCm39)		probably benign	Het
Adgre5	A	T	8: 84,451,527 (GRCm39)	V527E	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Angptl6	C	A	9: 20,789,683 (GRCm39)	A70S	probably benign	Het
Ankdd1a	C	A	9: 65,417,610 (GRCm39)	K137N	probably null	Het
Ccdc170	T	C	10: 4,496,950 (GRCm39)		probably benign	Het
Ccdc51	A	G	9: 108,920,698 (GRCm39)	E195G	probably damaging	Het
Cdc37	A	T	9: 21,053,426 (GRCm39)	C204S	possibly damaging	Het
Cfap36	T	C	11: 29,172,431 (GRCm39)		probably benign	Het
Col6a2	C	A	10: 76,432,259 (GRCm39)	G965C	probably damaging	Het
Csn1s2a	G	A	5: 87,926,826 (GRCm39)	S53N	possibly damaging	Het
Dab2ip	T	C	2: 35,582,388 (GRCm39)		probably null	Het
Dhx58	A	G	11: 100,587,823 (GRCm39)	V578A	probably damaging	Het
Diaph1	G	T	18: 38,024,902 (GRCm39)	Q520K	unknown	Het
Eefsec	C	A	6: 88,274,631 (GRCm39)	K444N	probably benign	Het
Eftud2	A	T	11: 102,759,443 (GRCm39)	H153Q	possibly damaging	Het
Exosc2	T	A	2: 31,562,497 (GRCm39)	Y46N	probably damaging	Het
F2	C	T	2: 91,456,075 (GRCm39)	G562D	probably damaging	Het
Fgf23	G	A	6: 127,057,128 (GRCm39)	G148D	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fstl5	G	A	3: 76,614,786 (GRCm39)	G179R	probably damaging	Het
Garre1	A	T	7: 33,938,644 (GRCm39)	W246R	probably damaging	Het
Gart	T	A	16: 91,422,282 (GRCm39)	Q745L	probably benign	Het
Gmeb1	T	A	4: 131,959,419 (GRCm39)	M212L	probably benign	Het
Gpaa1	T	C	15: 76,218,981 (GRCm39)	Y548H	probably damaging	Het
Gpatch1	T	C	7: 34,986,667 (GRCm39)	E763G	probably damaging	Het
Grm8	T	A	6: 27,762,389 (GRCm39)	I279F	probably damaging	Het
Hcls1	T	A	16: 36,771,536 (GRCm39)	H147Q	probably damaging	Het
Hpcal1	A	C	12: 17,836,389 (GRCm39)	D73A	probably damaging	Het
Il22ra1	T	C	4: 135,478,317 (GRCm39)	S463P	probably benign	Het
Itgbl1	G	A	14: 124,078,098 (GRCm39)		probably null	Het
Izumo3	G	T	4: 92,035,437 (GRCm39)		probably benign	Het
Kcna5	A	T	6: 126,510,346 (GRCm39)	L594Q	probably damaging	Het
Kif13a	A	T	13: 46,918,079 (GRCm39)	D409E	probably benign	Het
Kif9	A	T	9: 110,314,106 (GRCm39)	I39F	probably damaging	Het
Klri2	C	T	6: 129,709,171 (GRCm39)	R227H	possibly damaging	Het
Lamc3	G	A	2: 31,798,628 (GRCm39)	G445S	probably damaging	Het
Lctl	A	G	9: 64,024,980 (GRCm39)		probably benign	Het
Lrp4	T	C	2: 91,325,327 (GRCm39)	L1384P	probably damaging	Het
Mcm9	G	A	10: 53,439,526 (GRCm39)	S549L	possibly damaging	Het
Ms4a15	G	A	19: 10,956,697 (GRCm39)		probably benign	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Nckap1l	A	T	15: 103,390,391 (GRCm39)	I721F	probably benign	Het
Nemp2	T	C	1: 52,684,588 (GRCm39)	V298A	probably benign	Het
Npc1l1	T	A	11: 6,178,148 (GRCm39)	K421*	probably null	Het
Npr1	C	T	3: 90,363,244 (GRCm39)	V879M	probably damaging	Het
Odad4	A	G	11: 100,454,394 (GRCm39)	E393G	probably damaging	Het
Or2ad1	A	G	13: 21,326,336 (GRCm39)	V297A	possibly damaging	Het
Or51q1c	A	G	7: 103,652,709 (GRCm39)	T82A	probably benign	Het
Osgin1	A	T	8: 120,169,219 (GRCm39)	I39F	possibly damaging	Het
Phip	G	C	9: 82,809,244 (GRCm39)		probably null	Het
Pkdrej	G	T	15: 85,705,768 (GRCm39)	P56Q	possibly damaging	Het
Plcxd2	A	G	16: 45,800,889 (GRCm39)	Y112H	probably damaging	Het
Plekha1	C	T	7: 130,499,176 (GRCm39)	T155M	probably damaging	Het
Prkdc	T	C	16: 15,558,196 (GRCm39)		probably null	Het
Prss1	A	G	6: 41,439,495 (GRCm39)	H76R	probably damaging	Het
Psg23	T	C	7: 18,348,558 (GRCm39)	D83G	probably benign	Het
Ptprd	T	A	4: 76,055,140 (GRCm39)	Q196L	probably benign	Het
Ranbp3l	A	T	15: 9,063,067 (GRCm39)	H292L	probably damaging	Het
Ranbp6	T	C	19: 29,787,097 (GRCm39)	E1085G	probably benign	Het
Rccd1	A	G	7: 79,970,326 (GRCm39)	V97A	possibly damaging	Het
Rchy1	T	C	5: 92,105,458 (GRCm39)	S48G	probably benign	Het
Rnmt	G	A	18: 68,446,771 (GRCm39)	M265I	probably benign	Het
Robo3	A	T	9: 37,336,640 (GRCm39)	M376K	probably benign	Het
Rrp12	T	C	19: 41,862,289 (GRCm39)	D898G	probably benign	Het
Scg3	A	T	9: 75,570,462 (GRCm39)		probably benign	Het
Sec31b	A	T	19: 44,522,821 (GRCm39)	M57K	probably damaging	Het
Slc17a6	A	C	7: 51,315,892 (GRCm39)	I387L	probably benign	Het
Speer4a1	T	A	5: 26,240,982 (GRCm39)	Q170L	possibly damaging	Het
Srsf9	A	G	5: 115,470,260 (GRCm39)	D146G	possibly damaging	Het
Ss18	A	G	18: 14,788,200 (GRCm39)	M90T	probably damaging	Het
Syna	A	T	5: 134,588,314 (GRCm39)	F212I	possibly damaging	Het
Tex54	A	G	19: 8,718,221 (GRCm39)		probably benign	Het
Thsd1	A	G	8: 22,733,055 (GRCm39)	H34R	probably damaging	Het
Tmem143	T	C	7: 45,547,086 (GRCm39)	I84T	probably benign	Het
Trim50	T	C	5: 135,395,487 (GRCm39)	V281A	probably damaging	Het
Trp53i11	C	A	2: 93,029,696 (GRCm39)		probably benign	Het
Ttll4	C	T	1: 74,718,851 (GRCm39)	T234I	possibly damaging	Het
Ttyh1	A	T	7: 4,127,719 (GRCm39)	I136F	possibly damaging	Het
Ube2f	T	C	1: 91,189,976 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,037,083 (GRCm39)	L227*	probably null	Het
Vmn1r222	A	C	13: 23,416,974 (GRCm39)	C80G	probably damaging	Het
Vps13b	G	T	15: 35,926,365 (GRCm39)	A3889S	probably benign	Het
Vps8	T	C	16: 21,323,136 (GRCm39)		probably benign	Het
Zbtb44	A	G	9: 30,978,006 (GRCm39)	Y422C	probably damaging	Het
Zfp180	A	G	7: 23,805,158 (GRCm39)	S526G	possibly damaging	Het
Zfp518a	A	C	19: 40,904,310 (GRCm39)	E1413A	probably damaging	Het
Zfp629	T	A	7: 127,210,858 (GRCm39)	Y317F	probably damaging	Het
Zfp804b	T	C	5: 6,820,534 (GRCm39)	E843G	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
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
R0036:Eif5b	UTSW	1	38,058,192 (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

Predicted Primers

PCR Primer
(F):5'- CACTGAGTGAAGTGCTCCACACTG -3'
(R):5'- AGTCCCTCTGAGTGTCAACACCTC -3'

Sequencing Primer
(F):5'- TGCCAGACCTAACTCAGAGG -3'
(R):5'- ctccctctgtttactctgctc -3'

Posted On

2013-04-12