Mutagenetix > Incidental Mutation

Incidental Mutation 'R1633:Eif5'

172937

Institutional Source

Beutler Lab

Gene Symbol

Eif5

Ensembl Gene

ENSMUSG00000021282

Gene Name

eukaryotic translation initiation factor 5

Synonyms

2810011H21Rik, D12Ertd549e

MMRRC Submission

039670-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1633 (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 111506721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 104 (N104K)

Ref Sequence

ENSEMBL: ENSMUSP00000152221 (fasta)

Gene Model

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

AlphaFold

P59325

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050993
AA Change: N104K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061616
Gene: ENSMUSG00000021282
AA Change: N104K

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

possibly damaging
Transcript: ENSMUST00000166123
AA Change: N104K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126825
Gene: ENSMUSG00000021282
AA Change: N104K

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

unknown
Transcript: ENSMUST00000221292
AA Change: I77N

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222441
AA Change: N104K

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222234
AA Change: N104K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222388
AA Change: N104K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222375
AA Change: N104K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221648

Predicted Effect

probably benign
Transcript: ENSMUST00000222757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221872

Meta Mutation Damage Score

0.6611

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 83.9%

Validation Efficiency

94% (68/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	C	T	1: 127,681,592 (GRCm39)	A185V	probably benign	Het
Acsl6	T	C	11: 54,219,224 (GRCm39)		probably benign	Het
Arel1	A	G	12: 84,973,057 (GRCm39)	F580S	probably damaging	Het
Arhgef19	T	C	4: 140,965,871 (GRCm39)		probably benign	Het
Bpifb3	T	A	2: 153,764,504 (GRCm39)	L132Q	probably damaging	Het
Cacna2d1	T	A	5: 16,525,114 (GRCm39)	D516E	probably damaging	Het
Ccar1	T	C	10: 62,586,793 (GRCm39)	R882G	unknown	Het
Cep162	T	C	9: 87,085,736 (GRCm39)	E1196G	probably benign	Het
Cpt1b	T	C	15: 89,303,018 (GRCm39)	T649A	probably damaging	Het
Cttnbp2	A	T	6: 18,435,166 (GRCm39)	S231T	probably damaging	Het
Dock8	A	G	19: 25,028,927 (GRCm39)	T44A	probably benign	Het
Edrf1	T	C	7: 133,253,869 (GRCm39)	S536P	probably damaging	Het
Enpp3	T	C	10: 24,671,680 (GRCm39)	Y438C	probably damaging	Het
Ess2	A	G	16: 17,727,831 (GRCm39)	V116A	probably benign	Het
Galnt4	T	C	10: 98,945,814 (GRCm39)	V513A	possibly damaging	Het
Gdpd5	T	C	7: 99,097,720 (GRCm39)	I172T	probably benign	Het
Ggt7	C	T	2: 155,344,608 (GRCm39)	G245D	probably damaging	Het
Gm5884	A	T	6: 128,623,028 (GRCm39)		noncoding transcript	Het
Herc2	G	A	7: 55,879,117 (GRCm39)	G4669R	probably null	Het
Hydin	T	A	8: 111,233,614 (GRCm39)	D1817E	probably benign	Het
Igf2r	A	C	17: 12,945,196 (GRCm39)	N359K	probably benign	Het
Itgb4	T	C	11: 115,898,586 (GRCm39)	F1722L	probably damaging	Het
Itih3	T	A	14: 30,639,355 (GRCm39)	E406V	possibly damaging	Het
Lamc2	A	T	1: 153,017,444 (GRCm39)	C514*	probably null	Het
Mepe	G	T	5: 104,485,540 (GRCm39)	V227F	probably benign	Het
Nadk	C	T	4: 155,661,642 (GRCm39)	T56I	probably damaging	Het
Nedd4	G	A	9: 72,578,539 (GRCm39)	V84I	possibly damaging	Het
Nipal3	C	A	4: 135,174,659 (GRCm39)	R364L	probably benign	Het
Nkx2-9	T	C	12: 56,659,766 (GRCm39)	R27G	probably benign	Het
Noc2l	T	A	4: 156,329,750 (GRCm39)	S600T	probably benign	Het
Or1l4b	T	A	2: 37,036,983 (GRCm39)	I253N	probably damaging	Het
Or1o3	T	A	17: 37,574,553 (GRCm39)	M1L	probably benign	Het
Or2c1	A	C	16: 3,657,396 (GRCm39)	K186N	probably damaging	Het
Pax6	A	T	2: 105,522,063 (GRCm39)	E240V	probably damaging	Het
Pdilt	T	G	7: 119,087,217 (GRCm39)	T478P	probably damaging	Het
Phldb1	T	A	9: 44,629,619 (GRCm39)	I25F	probably damaging	Het
Rad50	C	T	11: 53,583,686 (GRCm39)	R365Q	probably benign	Het
Rdh10	A	G	1: 16,198,420 (GRCm39)	E186G	possibly damaging	Het
Rdh12	A	T	12: 79,265,498 (GRCm39)	E224V	probably damaging	Het
Reck	T	C	4: 43,922,964 (GRCm39)	V413A	possibly damaging	Het
Scn8a	A	G	15: 100,927,696 (GRCm39)	I1392V	probably benign	Het
Simc1	G	A	13: 54,673,044 (GRCm39)	G464D	probably benign	Het
Srf	A	T	17: 46,862,534 (GRCm39)	V318E	probably damaging	Het
Stab1	T	C	14: 30,872,337 (GRCm39)		probably null	Het
Stk3	T	C	15: 34,959,206 (GRCm39)	D322G	probably damaging	Het
Stxbp4	A	G	11: 90,430,986 (GRCm39)		probably benign	Het
Sult2a1	A	G	7: 13,535,351 (GRCm39)	I234T	probably benign	Het
Syne1	A	G	10: 5,299,388 (GRCm39)	F956L	probably damaging	Het
Tasor2	A	T	13: 3,631,771 (GRCm39)	I910N	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tmem63a	T	A	1: 180,776,391 (GRCm39)	V67E	probably damaging	Het
Tram2	A	T	1: 21,074,146 (GRCm39)	V264E	probably damaging	Het
Trpv5	A	T	6: 41,652,854 (GRCm39)	C106*	probably null	Het
Tspyl5	T	A	15: 33,686,791 (GRCm39)	K385*	probably null	Het
Vezt	T	A	10: 93,820,138 (GRCm39)	Q409L	probably damaging	Het
Vmn2r79	T	C	7: 86,687,042 (GRCm39)	C808R	possibly damaging	Het
Wdfy3	A	C	5: 102,129,414 (GRCm39)	V4G	probably damaging	Het
Wdr95	A	T	5: 149,516,637 (GRCm39)	I493F	probably damaging	Het
Zfhx4	A	T	3: 5,465,473 (GRCm39)	N1877I	probably damaging	Het
Zfp180	A	G	7: 23,804,226 (GRCm39)	D215G	probably benign	Het
Zfp442	A	T	2: 150,250,260 (GRCm39)	Y490*	probably null	Het
Zfp804b	A	G	5: 7,229,513 (GRCm39)		probably benign	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
R1717:Eif5	UTSW	12	111,508,651 (GRCm39)	missense	probably benign	0.00
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'- GTTGGAACTGCGGACCTACTTGATT -3'
(R):5'- CAACAGACATCTGGTTTAGCAGCCAT -3'

Sequencing Primer
(F):5'- ACGTGCAACCAGTGCTTTAG -3'
(R):5'- tgaatgcctttaatcccttttagatg -3'

Posted On

2014-04-24