Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Eif5b'

54116

Institutional Source

Beutler Lab

Gene Symbol

Eif5b

Ensembl Gene

ENSMUSG00000026083

Gene Name

eukaryotic translation initiation factor 5B

Synonyms

IF2, A030003E17Rik

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0606 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

38037091-38094660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38087974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 990 (L990H)

Ref Sequence

ENSEMBL: ENSMUSP00000027252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027251] [ENSMUST00000027252]

AlphaFold

Q05D44

Predicted Effect

probably benign
Transcript: ENSMUST00000027251

SMART Domains

Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082

Domain	Start	End	E-Value	Type
BRCT	46	121	3.99e-13	SMART
low complexity region	320	342	N/A	INTRINSIC
Pfam:IMS	420	620	1.9e-43	PFAM
Pfam:IMS_C	700	831	5.8e-20	PFAM
low complexity region	888	901	N/A	INTRINSIC
Pfam:DUF4414	938	1071	9.7e-11	PFAM
Pfam:REV1_C	1127	1248	1.2e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000027252
AA Change: L990H

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

SMART Domains

Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
AA Change: L990H

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: ENSMUST00000193008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195664

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	C	17: 33,652,572 (GRCm39)	Y211H	probably damaging	Het
Actn1	A	T	12: 80,221,421 (GRCm39)		probably benign	Het
Adtrp	A	G	13: 41,920,881 (GRCm39)	F197L	probably damaging	Het
Ankrd11	G	A	8: 123,619,571 (GRCm39)	T1406I	probably benign	Het
Arhgap24	A	T	5: 103,045,086 (GRCm39)	R620W	probably damaging	Het
Atg13	A	G	2: 91,512,418 (GRCm39)	Y284H	probably benign	Het
Atrn	A	G	2: 130,748,776 (GRCm39)	E99G	possibly damaging	Het
Cage1	A	T	13: 38,200,470 (GRCm39)		probably benign	Het
Cblif	A	T	19: 11,729,658 (GRCm39)	I206F	possibly damaging	Het
Ccr3	T	A	9: 123,828,839 (GRCm39)	M58K	probably benign	Het
Cdk18	G	T	1: 132,045,355 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,551 (GRCm39)	V23A	probably benign	Het
Col4a3	T	C	1: 82,650,307 (GRCm39)		probably benign	Het
Col4a6	A	G	X: 139,975,219 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,321,058 (GRCm39)	I251V	probably benign	Het
Csnk1g3	G	A	18: 54,050,100 (GRCm39)	V115M	probably damaging	Het
Cst7	A	T	2: 150,412,439 (GRCm39)	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,746,817 (GRCm39)	D373V	probably damaging	Het
Dclk2	G	A	3: 86,813,311 (GRCm39)	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,721,572 (GRCm39)		probably benign	Het
Dhx58	T	A	11: 100,593,077 (GRCm39)	H210L	probably benign	Het
Dnah9	T	C	11: 65,732,159 (GRCm39)	Y4249C	probably damaging	Het
Faap24	T	C	7: 35,094,388 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,282,077 (GRCm39)	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696 (GRCm39)	W15R	probably benign	Het
Gm15446	T	C	5: 110,091,347 (GRCm39)	V533A	probably benign	Het
Gm6760	T	A	X: 63,195,259 (GRCm39)	K63*	probably null	Het
Gne	C	T	4: 44,042,244 (GRCm39)	E444K	possibly damaging	Het
Gpr173	T	A	X: 151,130,036 (GRCm39)	M146L	possibly damaging	Het
Hira	C	T	16: 18,753,797 (GRCm39)	S547L	probably benign	Het
Hnf1b	A	G	11: 83,754,810 (GRCm39)	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,877,364 (GRCm39)	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,708,584 (GRCm39)	I40F	probably benign	Het
Hydin	C	T	8: 111,276,430 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,411,657 (GRCm39)	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,887,639 (GRCm39)	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,640,806 (GRCm39)	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,260 (GRCm39)		probably benign	Het
Itgb1	A	T	8: 129,448,853 (GRCm39)		probably benign	Het
Kctd21	G	A	7: 96,996,808 (GRCm39)	E94K	probably benign	Het
Kir3dl2	A	G	X: 135,354,260 (GRCm39)	V233A	possibly damaging	Het
Klra2	A	T	6: 131,197,187 (GRCm39)	C271S	probably damaging	Het
Lacc1	A	T	14: 77,267,061 (GRCm39)	C401S	probably damaging	Het
Lmna	T	C	3: 88,389,885 (GRCm39)	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,296 (GRCm39)	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,441,457 (GRCm39)	R116*	probably null	Het
Ndrg2	G	T	14: 52,143,674 (GRCm39)	R333S	probably damaging	Het
Nf2	A	G	11: 4,732,194 (GRCm39)	I507T	possibly damaging	Het
Nktr	A	G	9: 121,578,356 (GRCm39)		probably benign	Het
Nkx3-1	G	A	14: 69,428,455 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,467,781 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,872,801 (GRCm39)	N1047S	probably damaging	Het
Nup210	A	T	6: 91,003,911 (GRCm39)	I1402N	possibly damaging	Het
Or5d40	G	T	2: 88,015,624 (GRCm39)	M134I	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdcl2	C	T	5: 76,460,328 (GRCm39)	S182N	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,716,455 (GRCm39)	F669L	probably benign	Het
Plekha8	A	G	6: 54,606,805 (GRCm39)	K367E	probably damaging	Het
Pola1	A	G	X: 92,531,693 (GRCm39)		probably benign	Het
Ppm1d	C	T	11: 85,236,703 (GRCm39)	T494I	probably benign	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,498,177 (GRCm39)		probably benign	Het
Ptprg	T	A	14: 12,154,131 (GRCm38)	S617R	probably benign	Het
R3hdm2	G	A	10: 127,280,313 (GRCm39)	G45D	probably damaging	Het
Rev1	T	A	1: 38,098,204 (GRCm39)	R780W	probably null	Het
Rnf139	T	A	15: 58,771,676 (GRCm39)	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,405,174 (GRCm39)	V71A	probably damaging	Het
Shtn1	A	G	19: 58,988,372 (GRCm39)	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,246,067 (GRCm39)	H221L	probably benign	Het
Smo	A	C	6: 29,753,603 (GRCm39)	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,086,582 (GRCm39)		probably benign	Het
Snf8	G	T	11: 95,925,799 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,850,245 (GRCm39)	S628G	probably benign	Het
Sphkap	A	T	1: 83,258,145 (GRCm39)	D199E	probably damaging	Het
Spring1	T	C	5: 118,397,154 (GRCm39)	Y128H	probably damaging	Het
Stxbp5l	T	C	16: 37,024,883 (GRCm39)	T572A	possibly damaging	Het
Thada	C	A	17: 84,723,731 (GRCm39)	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756 (GRCm39)	Q735R	probably benign	Het
Trim24	G	A	6: 37,848,169 (GRCm39)	E42K	probably benign	Het
Trnt1	T	A	6: 106,754,869 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,604,353 (GRCm39)	M215K	probably damaging	Het
Ttc8	C	T	12: 98,909,718 (GRCm39)		probably benign	Het
Ube3c	A	G	5: 29,795,926 (GRCm39)	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,438,265 (GRCm39)		probably benign	Het
Usp36	A	G	11: 118,153,854 (GRCm39)		probably benign	Het
Vcf2	C	T	X: 149,181,360 (GRCm39)	A144T	probably benign	Het
Vmn2r102	T	C	17: 19,899,106 (GRCm39)	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,511,595 (GRCm39)	T432A	probably damaging	Het
Wnk1	G	T	6: 119,903,644 (GRCm39)	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,875,665 (GRCm39)		probably benign	Het
Zar1	G	T	5: 72,737,886 (GRCm39)	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,351,348 (GRCm39)	Y154H	probably benign	Het
Zer1	G	T	2: 29,994,809 (GRCm39)		probably benign	Het
Zfp454	A	G	11: 50,765,012 (GRCm39)	F140S	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
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
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'- ACTGTTGCTTGCTGTCAGGCATAC -3'
(R):5'- ACTGGGGATCATGTTCCAACATCAC -3'

Sequencing Primer
(F):5'- TATATTACCTCAGGCCGGAGAG -3'
(R):5'- GGATCATGTTCCAACATCACTGAAG -3'

Posted On

2013-07-11