Mutagenetix > Incidental Mutation

Incidental Mutation 'R7497:Eif2a'

581115

Institutional Source

Beutler Lab

Gene Symbol

Eif2a

Ensembl Gene

ENSMUSG00000027810

Gene Name

eukaryotic translation initiation factor 2A

Synonyms

D3Ertd194e

MMRRC Submission

045570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58433252-58464922 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58456102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 367 (P367Q)

Ref Sequence

ENSEMBL: ENSMUSP00000029387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029387] [ENSMUST00000135876] [ENSMUST00000138848] [ENSMUST00000154219]

AlphaFold

Q8BJW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029387
AA Change: P367Q

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

SMART Domains

Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: P367Q

Domain	Start	End	E-Value	Type
low complexity region	145	159	N/A	INTRINSIC
Pfam:eIF2A	216	411	1e-77	PFAM
low complexity region	488	502	N/A	INTRINSIC
coiled coil region	528	575	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135876

Predicted Effect

probably benign
Transcript: ENSMUST00000138848

SMART Domains

Protein: ENSMUSP00000120901
Gene: ENSMUSG00000027810

Domain	Start	End	E-Value	Type
SCOP:d1kb0a2	27	160	5e-9	SMART
Pfam:eIF2A	199	251	1.5e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154219

Meta Mutation Damage Score

0.6702

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a eukaryotic translation initiation factor that catalyzes the formation of puromycin-sensitive 80 S preinitiation complexes and the poly(U)-directed synthesis of polyphenylalanine at low concentrations of Mg2+. This gene should not be confused with eIF2-alpha (EIF2S1, Gene ID: 1965), the alpha subunit of the eIF2 translation initiation complex. Although both of these proteins function in binding initiator tRNA to the 40 S ribosomal subunit, the encoded protein does so in a codon-dependent manner, whereas eIF2 complex requires GTP. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile with no visible phenotypes. [provided by MGI curators]

Allele List at MGI

All alleles(51) : Targeted, other(2) Gene trapped(49)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,075,379 (GRCm39)	I145F	probably benign	Het
Acvr2b	T	A	9: 119,262,352 (GRCm39)	V455E	probably benign	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Agap2	T	C	10: 126,926,834 (GRCm39)	V977A	probably damaging	Het
Aph1b	A	C	9: 66,701,401 (GRCm39)	S79A	probably damaging	Het
Atm	G	A	9: 53,423,191 (GRCm39)	S645L	probably benign	Het
Cdh11	T	C	8: 103,400,456 (GRCm39)	R171G	probably benign	Het
Ces2f	T	A	8: 105,681,330 (GRCm39)	D556E	probably benign	Het
Cfap210	A	C	2: 69,588,792 (GRCm39)	N439K	probably benign	Het
Cyp26b1	C	A	6: 84,553,964 (GRCm39)	V218L	possibly damaging	Het
Diaph1	T	C	18: 38,028,353 (GRCm39)		probably null	Het
Dock1	A	G	7: 134,367,003 (GRCm39)	I482V	probably benign	Het
Dok4	A	T	8: 95,594,053 (GRCm39)	D47E	possibly damaging	Het
Dqx1	T	A	6: 83,036,028 (GRCm39)	L120Q	probably damaging	Het
Duxf3	A	T	10: 58,066,558 (GRCm39)	V157E	probably damaging	Het
Efcab3	T	C	11: 104,653,516 (GRCm39)		probably null	Het
Elp2	C	T	18: 24,744,985 (GRCm39)	R102C	probably damaging	Het
Erich2	T	C	2: 70,364,666 (GRCm39)	S347P	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Flacc1	T	A	1: 58,717,467 (GRCm39)	D148V	probably damaging	Het
Gadl1	A	T	9: 115,903,155 (GRCm39)	I495L	probably benign	Het
Gcnt4	A	G	13: 97,083,468 (GRCm39)	T255A	possibly damaging	Het
Gm10972	A	G	3: 94,550,887 (GRCm39)	K21E	unknown	Het
Gm57859	T	A	11: 113,583,223 (GRCm39)	W517R	probably damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Gp2	C	T	7: 119,053,829 (GRCm39)	C44Y	probably damaging	Het
Hcar2	C	T	5: 124,003,249 (GRCm39)	V85I	probably benign	Het
Hira	T	C	16: 18,770,829 (GRCm39)	V822A	probably damaging	Het
Ighv1-5	T	A	12: 114,477,156 (GRCm39)	T49S	probably damaging	Het
Ints1	C	T	5: 139,754,731 (GRCm39)	V603M	probably damaging	Het
Kdm2a	A	C	19: 4,374,404 (GRCm39)	L909R	probably damaging	Het
Klkb1	T	A	8: 45,747,827 (GRCm39)		probably benign	Het
Krit1	A	G	5: 3,862,349 (GRCm39)	H168R	possibly damaging	Het
Map3k21	A	T	8: 126,654,340 (GRCm39)	E386D	probably damaging	Het
Muc16	C	T	9: 18,556,385 (GRCm39)	E3303K	unknown	Het
Muc5b	T	G	7: 141,415,250 (GRCm39)	V2732G	possibly damaging	Het
Myo5a	T	C	9: 75,104,983 (GRCm39)	L189P		Het
Nlrc5	T	C	8: 95,248,598 (GRCm39)	L1740S	probably damaging	Het
Nolc1	A	G	19: 46,071,257 (GRCm39)	K402R	probably benign	Het
Or4b1b	T	A	2: 90,112,098 (GRCm39)	T274S	possibly damaging	Het
Or4k15	T	A	14: 50,364,952 (GRCm39)	L306Q	probably benign	Het
Or52s19	T	C	7: 103,008,219 (GRCm39)	M61V	probably damaging	Het
Or8u8	T	C	2: 86,012,417 (GRCm39)	I13V	probably benign	Het
Pnma8b	A	G	7: 16,678,874 (GRCm39)		probably benign	Het
Pnpt1	A	T	11: 29,080,860 (GRCm39)	M35L	probably benign	Het
Postn	A	G	3: 54,270,091 (GRCm39)	K57E	probably damaging	Het
Ppp1r9a	A	C	6: 4,905,775 (GRCm39)	D110A	probably damaging	Het
Pptc7	G	A	5: 122,422,942 (GRCm39)	V71M	possibly damaging	Het
Prdm11	T	A	2: 92,843,052 (GRCm39)	I136F	possibly damaging	Het
Rfc1	A	G	5: 65,436,841 (GRCm39)	L613P	probably damaging	Het
Ryr3	T	C	2: 112,560,818 (GRCm39)	D2981G	probably benign	Het
Sbf2	C	A	7: 110,213,923 (GRCm39)	E16*	probably null	Het
Scara3	T	C	14: 66,168,651 (GRCm39)	E322G	probably damaging	Het
Sema5b	T	A	16: 35,481,700 (GRCm39)	C893S	probably damaging	Het
Setdb1	T	C	3: 95,249,139 (GRCm39)	D323G	probably damaging	Het
Slc19a3	T	C	1: 82,991,649 (GRCm39)	Y453C	probably damaging	Het
Snx5	T	C	2: 144,099,894 (GRCm39)	K137E	probably damaging	Het
Taar8c	G	A	10: 23,977,116 (GRCm39)	T232I	probably benign	Het
Taok2	G	A	7: 126,474,050 (GRCm39)	T352I	probably damaging	Het
Ttc3	C	A	16: 94,219,541 (GRCm39)	R489S	possibly damaging	Het
Usp12	A	T	5: 146,689,264 (GRCm39)		probably null	Het
Usp16	T	A	16: 87,263,174 (GRCm39)	C125*	probably null	Het
Vmn2r106	C	T	17: 20,488,201 (GRCm39)	E733K	probably damaging	Het
Vps13b	T	A	15: 35,876,843 (GRCm39)	I2832K	probably benign	Het
Vps13c	A	G	9: 67,747,761 (GRCm39)	Y18C	probably damaging	Het
Zfp160	T	A	17: 21,246,455 (GRCm39)	I335K	probably benign	Het
Zfp788	A	T	7: 41,298,275 (GRCm39)	I304F	possibly damaging	Het

Other mutations in Eif2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02323:Eif2a	APN	3	58,456,024 (GRCm39)	missense	possibly damaging	0.89
IGL02823:Eif2a	APN	3	58,456,092 (GRCm39)	missense	probably benign	0.01
IGL03086:Eif2a	APN	3	58,448,538 (GRCm39)	missense	probably benign	0.00
IGL03165:Eif2a	APN	3	58,456,049 (GRCm39)	nonsense	probably null
1mM(1):Eif2a	UTSW	3	58,452,724 (GRCm39)	missense	possibly damaging	0.75
PIT4576001:Eif2a	UTSW	3	58,452,974 (GRCm39)	missense	probably damaging	1.00
R0540:Eif2a	UTSW	3	58,463,073 (GRCm39)	critical splice donor site	probably null
R0607:Eif2a	UTSW	3	58,463,073 (GRCm39)	critical splice donor site	probably null
R1061:Eif2a	UTSW	3	58,452,486 (GRCm39)	nonsense	probably null
R1499:Eif2a	UTSW	3	58,445,005 (GRCm39)	nonsense	probably null
R1922:Eif2a	UTSW	3	58,455,951 (GRCm39)	missense	probably damaging	1.00
R3980:Eif2a	UTSW	3	58,446,960 (GRCm39)	missense	probably benign	0.00
R4017:Eif2a	UTSW	3	58,452,776 (GRCm39)	missense	probably damaging	1.00
R4080:Eif2a	UTSW	3	58,447,050 (GRCm39)	missense	possibly damaging	0.52
R5528:Eif2a	UTSW	3	58,455,933 (GRCm39)	missense	probably damaging	1.00
R6320:Eif2a	UTSW	3	58,464,517 (GRCm39)	splice site	probably null
R7081:Eif2a	UTSW	3	58,449,139 (GRCm39)	critical splice donor site	probably null
R7414:Eif2a	UTSW	3	58,433,502 (GRCm39)	nonsense	probably null
R7447:Eif2a	UTSW	3	58,452,963 (GRCm39)	missense	probably damaging	0.97
R7701:Eif2a	UTSW	3	58,459,991 (GRCm39)	missense	possibly damaging	0.72
R8205:Eif2a	UTSW	3	58,456,156 (GRCm39)	missense	probably damaging	1.00
R8826:Eif2a	UTSW	3	58,456,049 (GRCm39)	nonsense	probably null
R9103:Eif2a	UTSW	3	58,452,461 (GRCm39)	missense
R9165:Eif2a	UTSW	3	58,452,695 (GRCm39)	missense	probably damaging	1.00
R9232:Eif2a	UTSW	3	58,463,022 (GRCm39)	missense	probably benign
R9280:Eif2a	UTSW	3	58,447,009 (GRCm39)	intron	probably benign
R9492:Eif2a	UTSW	3	58,448,475 (GRCm39)	missense	probably benign	0.00
R9524:Eif2a	UTSW	3	58,448,467 (GRCm39)	missense	possibly damaging	0.87
Z1176:Eif2a	UTSW	3	58,456,305 (GRCm39)	missense	probably benign
Z1177:Eif2a	UTSW	3	58,438,541 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGAAGTGTGATCCTGTG -3'
(R):5'- AGGCACTTCACTTGGAACTG -3'

Sequencing Primer
(F):5'- CCTGAAGTGTGATCCTGTGTTTGAC -3'
(R):5'- GCACTTCACTTGGAACTGCTTGG -3'

Posted On

2019-10-17