Mutagenetix > Incidental Mutation

Incidental Mutation 'R1717:Eif5'

191152

Institutional Source

Beutler Lab

Gene Symbol

Eif5

Ensembl Gene

ENSMUSG00000021282

Gene Name

eukaryotic translation initiation factor 5

Synonyms

2810011H21Rik, D12Ertd549e

MMRRC Submission

039750-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111504535-111513187 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111508651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 215 (D215E)

Ref Sequence

ENSEMBL: ENSMUSP00000152221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050993] [ENSMUST00000166123] [ENSMUST00000220803] [ENSMUST00000222375] [ENSMUST00000222388] [ENSMUST00000222234] [ENSMUST00000221292] [ENSMUST00000222757] [ENSMUST00000222441]

AlphaFold

P59325

Predicted Effect

probably benign
Transcript: ENSMUST00000050993
AA Change: D215E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000061616
Gene: ENSMUSG00000021282
AA Change: D215E

Domain	Start	End	E-Value	Type
eIF2B_5	13	128	7.62e-67	SMART
low complexity region	154	171	N/A	INTRINSIC
low complexity region	172	190	N/A	INTRINSIC
low complexity region	194	208	N/A	INTRINSIC
eIF5C	296	386	7.85e-40	SMART
low complexity region	421	427	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082559

Predicted Effect

probably benign
Transcript: ENSMUST00000166123
AA Change: D215E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126825
Gene: ENSMUSG00000021282
AA Change: D215E

Domain	Start	End	E-Value	Type
eIF2B_5	13	128	7.62e-67	SMART
low complexity region	154	171	N/A	INTRINSIC
low complexity region	172	190	N/A	INTRINSIC
low complexity region	194	208	N/A	INTRINSIC
eIF5C	296	386	7.85e-40	SMART
low complexity region	421	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220918

Predicted Effect

probably benign
Transcript: ENSMUST00000221101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221243

Predicted Effect

probably benign
Transcript: ENSMUST00000222375
AA Change: D215E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000222388
AA Change: D215E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223135

Predicted Effect

probably benign
Transcript: ENSMUST00000222234

Predicted Effect

probably benign
Transcript: ENSMUST00000221292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221872

Predicted Effect

probably benign
Transcript: ENSMUST00000222757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221648

Predicted Effect

probably benign
Transcript: ENSMUST00000222441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221363

Meta Mutation Damage Score

0.0672

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (81/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiation complex. The resulting functional 80S ribosomal initiation complex is then active in peptidyl transfer and chain elongations (summary by Si et al., 1996 [PubMed 8663286]).[supplied by OMIM, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	10: 95,629,641 (GRCm39)		probably null	Het
4930583I09Rik	T	C	17: 65,141,444 (GRCm39)	N53S	unknown	Het
4933434E20Rik	T	A	3: 89,963,544 (GRCm39)	S67T	probably benign	Het
Abcc8	T	C	7: 45,765,239 (GRCm39)	I1127V	possibly damaging	Het
Abcg3	G	A	5: 105,111,421 (GRCm39)	Q349*	probably null	Het
Adam2	A	G	14: 66,306,007 (GRCm39)	L158P	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akap11	C	A	14: 78,750,788 (GRCm39)	S533I	probably benign	Het
Aldh1a2	A	T	9: 71,200,953 (GRCm39)	N517I	probably damaging	Het
Aldh4a1	A	T	4: 139,365,840 (GRCm39)	H277L	possibly damaging	Het
Aldh4a1	G	A	4: 139,361,305 (GRCm39)		probably null	Het
Ankrd27	A	G	7: 35,327,871 (GRCm39)	D742G	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,712 (GRCm39)		probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Armh4	T	C	14: 49,989,121 (GRCm39)	D616G	probably damaging	Het
Arvcf	A	G	16: 18,220,319 (GRCm39)	K568E	possibly damaging	Het
Atp8b3	G	A	10: 80,364,631 (GRCm39)	R521W	probably damaging	Het
Casp16	A	G	17: 23,771,024 (GRCm39)	I127T	possibly damaging	Het
Cd163	A	G	6: 124,306,547 (GRCm39)		probably benign	Het
Cdh8	A	T	8: 99,757,337 (GRCm39)	S754T	probably damaging	Het
Cel	A	G	2: 28,446,789 (GRCm39)	Y461H	probably damaging	Het
Chmp4b	A	G	2: 154,499,240 (GRCm39)	I47V	possibly damaging	Het
Col1a1	A	G	11: 94,839,218 (GRCm39)	M989V	unknown	Het
Cpsf1	A	T	15: 76,486,766 (GRCm39)	S257T	possibly damaging	Het
Csmd1	A	T	8: 17,266,708 (GRCm39)	S73T	possibly damaging	Het
Csnk2a2	T	C	8: 96,182,436 (GRCm39)		probably null	Het
Dact2	A	T	17: 14,418,175 (GRCm39)	W177R	probably benign	Het
Ddx10	A	G	9: 53,071,253 (GRCm39)	V680A	probably benign	Het
Evpl	C	T	11: 116,116,318 (GRCm39)	A817T	probably benign	Het
Fmo6	T	A	1: 162,753,821 (GRCm39)	R131*	probably null	Het
Fsd2	T	C	7: 81,184,857 (GRCm39)	T680A	probably benign	Het
Fsip2	T	C	2: 82,805,289 (GRCm39)	V536A	possibly damaging	Het
Fzd8	T	C	18: 9,214,364 (GRCm39)	F482S	probably damaging	Het
Gabrb1	A	T	5: 72,265,694 (GRCm39)		probably null	Het
Galnt9	T	G	5: 110,744,078 (GRCm39)	I304S	probably benign	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm5334	A	C	7: 68,268,725 (GRCm39)		noncoding transcript	Het
Grcc10	A	T	6: 124,717,476 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,734,937 (GRCm39)	T192A	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Irgm2	T	A	11: 58,111,461 (GRCm39)	L396Q	probably damaging	Het
Ksr2	T	A	5: 117,809,514 (GRCm39)	C426S	probably damaging	Het
Lair1	A	G	7: 4,013,788 (GRCm39)	F153S	probably damaging	Het
Lrp1	T	C	10: 127,392,138 (GRCm39)	H2835R	possibly damaging	Het
Lrp1	T	C	10: 127,399,534 (GRCm39)	T2325A	probably damaging	Het
Lrrd1	T	C	5: 3,900,580 (GRCm39)	F295S	probably damaging	Het
Meis1	T	A	11: 18,960,608 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,484,579 (GRCm39)	I156K	probably benign	Het
Mmd2	T	C	5: 142,561,105 (GRCm39)		probably benign	Het
Morc1	A	G	16: 48,272,840 (GRCm39)	I156V	probably benign	Het
Muc4	A	G	16: 32,753,405 (GRCm38)	T1094A	possibly damaging	Het
Nckap1	A	G	2: 80,343,014 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Or12e1	A	T	2: 87,022,247 (GRCm39)	N72I	probably benign	Het
Or2t49	T	A	11: 58,392,885 (GRCm39)	M166L	probably benign	Het
Or4e2	T	C	14: 52,688,296 (GRCm39)	V142A	probably benign	Het
Or5as1	A	T	2: 86,980,150 (GRCm39)	L285*	probably null	Het
Or8d1b	C	T	9: 38,887,706 (GRCm39)	L245F	probably damaging	Het
Pcdha1	T	C	18: 37,065,237 (GRCm39)	S634P	probably benign	Het
Pcdhb12	T	A	18: 37,569,841 (GRCm39)	V329E	probably damaging	Het
Pcf11	A	T	7: 92,312,793 (GRCm39)	D193E	probably benign	Het
Pcsk1	G	C	13: 75,258,947 (GRCm39)	M240I	probably damaging	Het
Pdc	T	A	1: 150,208,892 (GRCm39)	I125N	probably damaging	Het
Plch2	C	T	4: 155,082,729 (GRCm39)	G564S	probably benign	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Riok1	T	A	13: 38,236,926 (GRCm39)	I389N	probably damaging	Het
Ror1	T	A	4: 100,160,135 (GRCm39)	S50R	probably benign	Het
Samd13	T	C	3: 146,352,070 (GRCm39)	T75A	probably benign	Het
Siglec1	G	A	2: 130,915,876 (GRCm39)	H1329Y	possibly damaging	Het
Siglec1	T	C	2: 130,925,932 (GRCm39)	N258S	probably damaging	Het
Slbp	G	A	5: 33,802,946 (GRCm39)	A126V	probably benign	Het
Slc12a4	A	T	8: 106,674,203 (GRCm39)		probably null	Het
Specc1	A	G	11: 62,019,218 (GRCm39)	I686V	possibly damaging	Het
Synpo2	C	A	3: 122,906,203 (GRCm39)	V1038F	probably damaging	Het
Tbk1	G	A	10: 121,397,550 (GRCm39)	T374I	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmem190	T	C	7: 4,787,132 (GRCm39)	L112P	probably damaging	Het
Tsc2	C	T	17: 24,816,042 (GRCm39)	R1715Q	probably damaging	Het
Ulbp3	A	T	10: 3,075,050 (GRCm39)		noncoding transcript	Het
Vmn1r46	T	C	6: 89,953,811 (GRCm39)	L220P	probably damaging	Het
Vwa3a	A	G	7: 120,392,609 (GRCm39)	Q816R	probably benign	Het
Zfhx4	T	C	3: 5,468,164 (GRCm39)	I2799T	probably benign	Het
Zfp105	T	C	9: 122,759,696 (GRCm39)	S456P	probably damaging	Het

Other mutations in Eif5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Eif5	APN	12	111,506,989 (GRCm39)	missense	probably damaging	1.00
IGL03399:Eif5	APN	12	111,511,024 (GRCm39)	missense	probably damaging	0.99
Builder	UTSW	12	111,510,042 (GRCm39)	missense	probably damaging	1.00
Karenina	UTSW	12	111,509,227 (GRCm39)	missense	probably benign	0.16
Tolstoy	UTSW	12	111,509,989 (GRCm39)	missense	probably damaging	1.00
R0561:Eif5	UTSW	12	111,506,950 (GRCm39)	missense	probably benign	0.20
R1633:Eif5	UTSW	12	111,506,721 (GRCm39)	missense	probably damaging	0.99
R2939:Eif5	UTSW	12	111,506,713 (GRCm39)	missense	probably damaging	1.00
R3820:Eif5	UTSW	12	111,506,618 (GRCm39)	nonsense	probably null
R4402:Eif5	UTSW	12	111,508,183 (GRCm39)	missense	probably benign	0.01
R4532:Eif5	UTSW	12	111,506,318 (GRCm39)	nonsense	probably null
R5040:Eif5	UTSW	12	111,506,284 (GRCm39)	missense	probably damaging	0.99
R5379:Eif5	UTSW	12	111,509,989 (GRCm39)	missense	probably damaging	1.00
R5575:Eif5	UTSW	12	111,508,740 (GRCm39)	missense	probably damaging	0.98
R6278:Eif5	UTSW	12	111,509,227 (GRCm39)	missense	probably benign	0.16
R6629:Eif5	UTSW	12	111,510,042 (GRCm39)	missense	probably damaging	1.00
R7043:Eif5	UTSW	12	111,511,030 (GRCm39)	missense	probably benign	0.13
R7347:Eif5	UTSW	12	111,506,724 (GRCm39)	utr 3 prime	probably benign
R7409:Eif5	UTSW	12	111,506,697 (GRCm39)	utr 3 prime	probably benign
R7513:Eif5	UTSW	12	111,506,686 (GRCm39)	missense	probably damaging	0.97
R7964:Eif5	UTSW	12	111,506,608 (GRCm39)	missense	probably benign	0.01
R8384:Eif5	UTSW	12	111,506,239 (GRCm39)	missense	possibly damaging	0.85
X0013:Eif5	UTSW	12	111,511,028 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TAGTCCTCCACATGCTGTGGTGAG -3'
(R):5'- GCAAGGACGTAAATGCAAGCCTTC -3'

Sequencing Primer
(F):5'- CCACATGCTGTGGTGAGTATAATG -3'
(R):5'- gcttagacagagaccctgac -3'

Posted On

2014-05-14