Mutagenetix > Incidental Mutation

Incidental Mutation 'R2311:Eif5a2'

245332

Institutional Source

Beutler Lab

Gene Symbol

Eif5a2

Ensembl Gene

ENSMUSG00000050192

Gene Name

eukaryotic translation initiation factor 5A2

Synonyms

MMRRC Submission

040310-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R2311 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28835426-28852995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28836325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 42 (E42G)

Ref Sequence

ENSEMBL: ENSMUSP00000050289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060500]

AlphaFold

Q8BGY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060500
AA Change: E42G

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050289
Gene: ENSMUSG00000050192
AA Change: E42G

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	2e-38	SMART
eIF-5a	83	150	3.83e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167704

Meta Mutation Damage Score

0.3654

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (41/41)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knockout allele exhibit no abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7e	G	A	15: 77,602,236 (GRCm39)	R278H	probably benign	Het
Arhgef17	A	G	7: 100,578,111 (GRCm39)	S946P	probably benign	Het
Capsl	A	T	15: 9,462,689 (GRCm39)	R110*	probably null	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dock8	T	A	19: 25,160,368 (GRCm39)	I1757N	possibly damaging	Het
Dthd1	T	C	5: 62,996,580 (GRCm39)		probably benign	Het
Elovl3	A	G	19: 46,121,639 (GRCm39)	S61G	probably benign	Het
Elp4	T	C	2: 105,672,677 (GRCm39)	N136S	probably benign	Het
Elp6	A	G	9: 110,149,886 (GRCm39)	S223G	probably benign	Het
Eml1	T	A	12: 108,503,675 (GRCm39)	D743E	probably damaging	Het
Ezh2	T	C	6: 47,535,194 (GRCm39)	Q85R	probably damaging	Het
Fermt3	C	A	19: 6,991,530 (GRCm39)	C194F	probably damaging	Het
Flg	A	G	3: 93,200,260 (GRCm39)		probably benign	Het
Gfi1b	C	T	2: 28,500,186 (GRCm39)	G282R	probably damaging	Het
Gpr176	A	T	2: 118,109,927 (GRCm39)	I444K	probably benign	Het
Gvin-ps3	T	C	7: 105,682,797 (GRCm39)	K153E	probably damaging	Het
Gys2	A	T	6: 142,408,970 (GRCm39)	M95K	possibly damaging	Het
Hgs	C	T	11: 120,370,474 (GRCm39)	R167W	probably damaging	Het
Map3k20	T	C	2: 72,198,784 (GRCm39)	I130T	probably damaging	Het
Nckap5	A	T	1: 126,456,489 (GRCm39)	Y25N	probably damaging	Het
Npc1	C	T	18: 12,335,240 (GRCm39)	V629I	probably benign	Het
Nrl	C	A	14: 55,759,909 (GRCm39)	S6I	probably damaging	Het
Or10am5	A	T	7: 6,517,741 (GRCm39)	M229K	probably benign	Het
Or4c29	T	A	2: 88,739,813 (GRCm39)	D308V	probably benign	Het
Or5d37	T	C	2: 87,924,178 (GRCm39)	N34S	probably benign	Het
Oxct2b	T	C	4: 123,011,211 (GRCm39)	F377S	probably damaging	Het
Plb1	T	C	5: 32,427,162 (GRCm39)	S91P	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Postn	A	T	3: 54,292,644 (GRCm39)	Y737F	probably damaging	Het
Serpina1e	T	A	12: 103,917,388 (GRCm39)	I94F	possibly damaging	Het
Serpine2	A	G	1: 79,788,265 (GRCm39)		probably benign	Het
Stox2	T	C	8: 47,645,013 (GRCm39)	R816G	probably damaging	Het
Tep1	T	C	14: 51,071,024 (GRCm39)	N2092D	possibly damaging	Het
Tmem186	A	G	16: 8,453,748 (GRCm39)	V171A	probably benign	Het
Trim58	G	A	11: 58,533,934 (GRCm39)	V163M	probably benign	Het
Trim59	G	T	3: 68,945,162 (GRCm39)	C59*	probably null	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Vill	A	G	9: 118,894,965 (GRCm39)	N61S	probably benign	Het
Zer1	C	T	2: 29,991,834 (GRCm39)	R662H	probably damaging	Het
Zfp644	A	C	5: 106,782,822 (GRCm39)	V1184G	probably benign	Het
Zfp974	A	G	7: 27,609,866 (GRCm39)	S620P	possibly damaging	Het

Other mutations in Eif5a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02143:Eif5a2	APN	3	28,847,888 (GRCm39)	missense	probably benign	0.26
IGL02342:Eif5a2	APN	3	28,847,910 (GRCm39)	missense	possibly damaging	0.83
vronsky	UTSW	3	28,836,886 (GRCm39)	missense	possibly damaging	0.72
R1673:Eif5a2	UTSW	3	28,847,967 (GRCm39)	critical splice donor site	probably null
R5076:Eif5a2	UTSW	3	28,836,886 (GRCm39)	missense	possibly damaging	0.72
R5842:Eif5a2	UTSW	3	28,848,546 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- CATGCCGGTTATTAAAACGCAAAC -3'
(R):5'- GGTCCGATTAAATGGAGAGCTTTAC -3'

Sequencing Primer
(F):5'- GCAAACAAACTTTTCGCATAGTTCC -3'
(R):5'- GCTTTACTGAGAGTAATGTCTGACC -3'

Posted On

2014-10-30