Mutagenetix > Incidental Mutation

Incidental Mutation 'R1499:Eif2a'

168672

Institutional Source

Beutler Lab

Gene Symbol

Eif2a

Ensembl Gene

ENSMUSG00000027810

Gene Name

eukaryotic translation initiation factor 2A

Synonyms

D3Ertd194e

MMRRC Submission

039550-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58433252-58464922 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 58445005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 50 (L50*)

Ref Sequence

ENSEMBL: ENSMUSP00000121236 (fasta)

Gene Model

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

AlphaFold

Q8BJW6

Predicted Effect

probably null
Transcript: ENSMUST00000029387
AA Change: L50*

SMART Domains

Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: L50*

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 null
Transcript: ENSMUST00000135876
AA Change: L50*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137469

Predicted Effect

probably null
Transcript: ENSMUST00000138848
AA Change: L33*

SMART Domains

Protein: ENSMUSP00000120901
Gene: ENSMUSG00000027810
AA Change: L33*

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

Predicted Effect

probably null
Transcript: ENSMUST00000154219
AA Change: L50*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

99% (83/84)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,030,458 (GRCm39)	Y763F	probably benign	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Actl11	A	G	9: 107,808,682 (GRCm39)	T1002A	probably damaging	Het
Ampd1	T	A	3: 102,998,980 (GRCm39)	N378K	probably damaging	Het
Arhgap42	A	G	9: 9,033,587 (GRCm39)		probably benign	Het
Arhgap6	C	A	X: 167,579,499 (GRCm39)	P95T	possibly damaging	Het
Atg14	T	C	14: 47,798,102 (GRCm39)	N87S	probably benign	Het
Atp9b	C	T	18: 80,805,353 (GRCm39)	C735Y	probably damaging	Het
Atp9b	T	A	18: 80,822,122 (GRCm39)	T110S	probably benign	Het
Birc6	T	G	17: 74,919,314 (GRCm39)	L221R	probably damaging	Het
Ces1c	A	G	8: 93,854,233 (GRCm39)	F101L	probably benign	Het
Cfap91	A	G	16: 38,141,762 (GRCm39)	V390A	probably damaging	Het
Chsy1	T	C	7: 65,821,750 (GRCm39)	Y662H	probably damaging	Het
Cldn12	A	T	5: 5,557,900 (GRCm39)	F176I	probably benign	Het
Col5a2	A	G	1: 45,450,626 (GRCm39)	S374P	probably benign	Het
Col6a2	A	T	10: 76,439,544 (GRCm39)	V740E	probably damaging	Het
Cpne3	A	T	4: 19,526,336 (GRCm39)	I401K	probably damaging	Het
Cspp1	T	A	1: 10,159,191 (GRCm39)		probably null	Het
Ddn	G	A	15: 98,704,647 (GRCm39)	T215I	possibly damaging	Het
Dync1i1	T	C	6: 5,769,799 (GRCm39)		probably benign	Het
Dync2li1	T	C	17: 84,954,667 (GRCm39)		probably benign	Het
Elavl3	G	A	9: 21,929,875 (GRCm39)	A343V	probably damaging	Het
Fastkd1	T	C	2: 69,538,982 (GRCm39)		probably null	Het
Fgf8	C	A	19: 45,730,786 (GRCm39)	V80F	possibly damaging	Het
Fras1	A	T	5: 96,891,046 (GRCm39)	E2858D	probably benign	Het
Fshr	A	T	17: 89,293,529 (GRCm39)	L383Q	probably damaging	Het
Glb1	A	G	9: 114,246,171 (GRCm39)	K74R	probably benign	Het
Gmeb2	T	G	2: 180,897,019 (GRCm39)	M290L	probably benign	Het
Gnptg	A	G	17: 25,454,828 (GRCm39)		probably null	Het
Grik2	A	C	10: 49,008,871 (GRCm39)	S739A	probably damaging	Het
Grk2	T	A	19: 4,337,222 (GRCm39)	Q659L	probably benign	Het
Hdhd5	A	G	6: 120,491,473 (GRCm39)	V210A	probably damaging	Het
Hyal1	C	T	9: 107,455,091 (GRCm39)	L134F	probably damaging	Het
Itgb2	A	T	10: 77,381,987 (GRCm39)	K18N	possibly damaging	Het
Jam3	A	T	9: 27,017,701 (GRCm39)	I29K	possibly damaging	Het
Kcnh3	C	A	15: 99,137,796 (GRCm39)	D830E	probably benign	Het
Kcnmb4	T	C	10: 116,309,203 (GRCm39)	D75G	possibly damaging	Het
Kdm4b	A	G	17: 56,707,025 (GRCm39)	Y981C	probably damaging	Het
Klk1b26	C	A	7: 43,665,810 (GRCm39)	D207E	probably benign	Het
Kmt2a	G	T	9: 44,759,563 (GRCm39)	T762N	probably benign	Het
Kmt2d	A	G	15: 98,742,819 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,964,876 (GRCm39)	S1414P	possibly damaging	Het
Lce1f	C	G	3: 92,626,276 (GRCm39)	C127S	unknown	Het
Map7d1	A	G	4: 126,128,558 (GRCm39)		probably null	Het
Ninl	T	C	2: 150,822,096 (GRCm39)	D2G	possibly damaging	Het
Or2w1b	T	A	13: 21,300,303 (GRCm39)	M147K	probably benign	Het
Or5k3	A	G	16: 58,969,287 (GRCm39)	T25A	probably benign	Het
Or5m11b	C	T	2: 85,806,372 (GRCm39)	P262S	possibly damaging	Het
Or6n1	T	A	1: 173,916,813 (GRCm39)	L69*	probably null	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Pax8	A	G	2: 24,319,608 (GRCm39)	Y381H	possibly damaging	Het
Pde7a	T	C	3: 19,314,408 (GRCm39)	I63V	possibly damaging	Het
Pgm3	A	T	9: 86,452,340 (GRCm39)	F40Y	probably benign	Het
Phrf1	G	T	7: 140,836,564 (GRCm39)	D78Y	probably damaging	Het
Plekhg1	C	T	10: 3,890,538 (GRCm39)		probably benign	Het
Prss59	A	T	6: 40,898,652 (GRCm39)	S199T	probably benign	Het
Pum1	T	C	4: 130,446,567 (GRCm39)	S209P	probably damaging	Het
Qtrt2	A	T	16: 43,689,337 (GRCm39)	F220L	probably benign	Het
Rgs9	A	G	11: 109,159,747 (GRCm39)		probably null	Het
Rin3	A	G	12: 102,335,018 (GRCm39)	T230A	unknown	Het
Ros1	A	T	10: 51,974,773 (GRCm39)	V1604E	possibly damaging	Het
Rpp14	A	G	14: 8,090,528 (GRCm38)	M151V	probably benign	Het
Sacs	T	A	14: 61,451,153 (GRCm39)	F4400I	possibly damaging	Het
Scamp1	C	T	13: 94,361,437 (GRCm39)	V148I	probably benign	Het
Slc13a5	A	G	11: 72,141,557 (GRCm39)	C428R	probably damaging	Het
Slc43a2	T	G	11: 75,453,733 (GRCm39)		probably null	Het
Smarcc2	T	A	10: 128,299,741 (GRCm39)	N135K	probably damaging	Het
Snx15	G	C	19: 6,172,094 (GRCm39)	S116R	probably damaging	Het
Stag1	A	G	9: 100,737,885 (GRCm39)	E414G	possibly damaging	Het
Stag1	A	T	9: 100,769,426 (GRCm39)		probably benign	Het
Tmem106a	T	A	11: 101,481,263 (GRCm39)	L257Q	possibly damaging	Het
Tnc	C	T	4: 63,882,991 (GRCm39)	D1968N	probably benign	Het
Trim42	A	G	9: 97,248,138 (GRCm39)	L186P	possibly damaging	Het
Tshb	T	A	3: 102,685,624 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,584,484 (GRCm39)	D13881V	probably damaging	Het
Uqcrc2	T	C	7: 120,239,506 (GRCm39)	V56A	probably benign	Het
Uty	G	A	Y: 1,197,228 (GRCm39)	T113I	probably damaging	Het
Vps13c	A	G	9: 67,864,787 (GRCm39)	E3032G	probably benign	Het
Wfdc9	T	G	2: 164,493,729 (GRCm39)		probably benign	Het
Zc3h7a	G	A	16: 10,980,520 (GRCm39)	T31I	probably damaging	Het
Zfp462	T	C	4: 55,060,046 (GRCm39)	S1191P	probably 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
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
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'- ccacacccagTACTTCAGGACACA -3'
(R):5'- TGCTCAATTCATACTTCCAGGCTAATGC -3'

Sequencing Primer
(F):5'- TTCTGCTTGCATGAAACCAG -3'
(R):5'- ATCTGAGTCCAAAGTTAACAAGTG -3'

Posted On

2014-04-13