Mutagenetix > Incidental Mutation

Incidental Mutation 'R4080:Eif2a'

316795

Institutional Source

Beutler Lab

Gene Symbol

Eif2a

Ensembl Gene

ENSMUSG00000027810

Gene Name

eukaryotic translation initiation factor 2A

Synonyms

D3Ertd194e

MMRRC Submission

040856-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58433252-58464922 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58447050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 92 (T92M)

Ref Sequence

ENSEMBL: ENSMUSP00000029387 (fasta)

Gene Model

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

AlphaFold

Q8BJW6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029387
AA Change: T92M

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: T92M

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

noncoding transcript
Transcript: ENSMUST00000137469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138827

Predicted Effect

probably benign
Transcript: ENSMUST00000138848
AA Change: T75M

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120901
Gene: ENSMUSG00000027810
AA Change: T75M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148251

Predicted Effect

probably benign
Transcript: ENSMUST00000154219

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Adam7	T	C	14: 68,757,988 (GRCm39)	T245A	probably benign	Het
Adgrf3	G	A	5: 30,402,367 (GRCm39)	Q554*	probably null	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Arhgef1	G	T	7: 24,625,271 (GRCm39)	D850Y	probably damaging	Het
Aspm	C	A	1: 139,398,493 (GRCm39)	Q1024K	probably damaging	Het
C7	T	C	15: 5,019,946 (GRCm39)	S734G	probably benign	Het
Ccdc158	A	T	5: 92,771,255 (GRCm39)	S987T	probably benign	Het
Chrna2	C	A	14: 66,380,873 (GRCm39)	Y47*	probably null	Het
Chrna2	G	T	14: 66,380,866 (GRCm39)	G45V	probably benign	Het
Clec2g	C	A	6: 128,958,287 (GRCm39)	Q117K	probably damaging	Het
Cntnap5a	A	G	1: 116,029,304 (GRCm39)	S253G	probably benign	Het
Cttn	T	A	7: 144,011,461 (GRCm39)	D116V	probably damaging	Het
Cyp2c40	A	G	19: 39,790,973 (GRCm39)	V286A	probably benign	Het
Dcbld2	T	A	16: 58,285,736 (GRCm39)	S632T	probably damaging	Het
Dscam	A	T	16: 96,484,972 (GRCm39)	N1118K	probably benign	Het
Frmpd1	T	A	4: 45,284,382 (GRCm39)	C1068S	probably benign	Het
Fstl1	G	A	16: 37,642,965 (GRCm39)	V110I	probably benign	Het
Gpat2	T	C	2: 127,275,542 (GRCm39)	I465T	probably damaging	Het
Gpr137	C	T	19: 6,917,791 (GRCm39)		probably benign	Het
Hgsnat	A	G	8: 26,436,371 (GRCm39)	I561T	probably benign	Het
Ift74	T	A	4: 94,541,149 (GRCm39)		probably null	Het
Ilf3	A	G	9: 21,314,430 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc41	C	A	4: 115,937,743 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,923 (GRCm39)	R700L	possibly damaging	Het
Myo16	A	G	8: 10,612,240 (GRCm39)	D1295G	probably damaging	Het
Myo5b	A	G	18: 74,873,559 (GRCm39)	M1488V	probably benign	Het
Naip6	A	T	13: 100,435,815 (GRCm39)	Y903N	probably damaging	Het
Nek6	A	G	2: 38,440,649 (GRCm39)	H19R	probably damaging	Het
Nktr	A	C	9: 121,570,192 (GRCm39)	T127P	probably damaging	Het
Noc4l	A	T	5: 110,797,738 (GRCm39)	D335E	probably benign	Het
Nsd1	A	G	13: 55,449,622 (GRCm39)	D1993G	probably damaging	Het
Or1ad1	G	A	11: 50,875,683 (GRCm39)	D52N	probably damaging	Het
Or5h22	A	T	16: 58,894,619 (GRCm39)	F275I	probably damaging	Het
Pabpc2	A	T	18: 39,908,583 (GRCm39)	Q616L	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,832 (GRCm39)	D127V	probably damaging	Het
Phrf1	T	C	7: 140,839,633 (GRCm39)		probably benign	Het
Phtf2	T	A	5: 21,018,294 (GRCm39)	I16F	probably damaging	Het
Plekhg3	G	T	12: 76,624,755 (GRCm39)	R1200L	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Prss12	A	G	3: 123,279,134 (GRCm39)	N404D	probably benign	Het
Ptch2	C	G	4: 116,968,403 (GRCm39)	A926G	probably damaging	Het
Ptpra	T	C	2: 30,333,317 (GRCm39)	F6L	probably damaging	Het
Reck	T	C	4: 43,942,293 (GRCm39)	I853T	possibly damaging	Het
Reep6	G	A	10: 80,165,996 (GRCm39)		probably benign	Het
Rex2	T	A	4: 147,143,154 (GRCm39)	S547R	probably benign	Het
Rgs22	C	T	15: 36,107,222 (GRCm39)	E55K	probably damaging	Het
Rtl6	T	C	15: 84,441,202 (GRCm39)	T65A	possibly damaging	Het
Scarb1	G	T	5: 125,354,859 (GRCm39)	P491Q	probably damaging	Het
Scfd1	A	G	12: 51,478,302 (GRCm39)	S505G	probably benign	Het
Scube1	T	G	15: 83,492,948 (GRCm39)	Q904P	probably damaging	Het
Sis	T	C	3: 72,828,517 (GRCm39)	Y1186C	probably damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Spty2d1	T	C	7: 46,648,329 (GRCm39)	E200G	probably damaging	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Sybu	T	C	15: 44,582,339 (GRCm39)	K95R	probably damaging	Het
Trappc9	T	A	15: 72,813,796 (GRCm39)	D488V	probably damaging	Het
Txk	G	A	5: 72,858,006 (GRCm39)	P381S	probably damaging	Het
Ubr2	A	T	17: 47,299,648 (GRCm39)	M198K	probably benign	Het
Unc5a	A	T	13: 55,152,294 (GRCm39)	T786S	possibly damaging	Het
Unc93b1	G	A	19: 3,991,959 (GRCm39)	R231Q	probably damaging	Het
Wfdc1	T	A	8: 120,410,532 (GRCm39)		probably null	Het
Zfp667	T	G	7: 6,308,105 (GRCm39)	C258G	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	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
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
R7497:Eif2a	UTSW	3	58,456,102 (GRCm39)	missense	probably damaging	1.00
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'- GGAAGTCCTATCACTTGTGGATC -3'
(R):5'- CATATTCCCTGCAGATGGCTG -3'

Sequencing Primer
(F):5'- TCTTGGAATTTCCTGAAAAGTGG -3'
(R):5'- CTGCAGATGGCTGGGTGTG -3'

Posted On

2015-05-15