Mutagenetix > Incidental Mutation

Incidental Mutation 'R9524:Eif2a'

719066

Institutional Source

Beutler Lab

Gene Symbol

Eif2a

Ensembl Gene

ENSMUSG00000027810

Gene Name

eukaryotic translation initiation factor 2A

Synonyms

D3Ertd194e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9524 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58433252-58464922 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58448467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 100 (K100I)

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: K100I

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: K100I

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

possibly damaging
Transcript: ENSMUST00000138848
AA Change: K83I

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120901
Gene: ENSMUSG00000027810
AA Change: K83I

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: *60Y

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,180,594 (GRCm39)		probably null	Het
Adra2c	G	A	5: 35,438,143 (GRCm39)	R305Q	probably benign	Het
Ahnak	A	G	19: 9,014,617 (GRCm39)	D147G		Het
Arhgap30	T	A	1: 171,225,114 (GRCm39)	S57T	probably damaging	Het
Aspm	T	C	1: 139,408,607 (GRCm39)	I2498T	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
Cc2d1a	G	T	8: 84,870,744 (GRCm39)	D101E	probably benign	Het
Cntfr	A	G	4: 41,661,995 (GRCm39)	L249P	probably damaging	Het
D130043K22Rik	T	C	13: 25,071,876 (GRCm39)	I940T	possibly damaging	Het
Dnah12	T	G	14: 26,572,494 (GRCm39)	C2862G	probably null	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dnah9	A	G	11: 65,976,309 (GRCm39)	F1247L	possibly damaging	Het
Dpp10	T	C	1: 123,264,611 (GRCm39)	Q737R	probably damaging	Het
Dpp3	A	G	19: 4,959,897 (GRCm39)	V673A	possibly damaging	Het
Flnc	C	A	6: 29,461,109 (GRCm39)	N2694K	probably damaging	Het
Fv1	T	A	4: 147,953,768 (GRCm39)	D111E	possibly damaging	Het
Gcnt3	G	A	9: 69,941,569 (GRCm39)	A333V	probably damaging	Het
Gpr151	T	C	18: 42,712,710 (GRCm39)		probably benign	Het
Gxylt2	A	G	6: 100,727,416 (GRCm39)	T177A	probably benign	Het
Hnmt	G	A	2: 23,893,880 (GRCm39)	L205F	possibly damaging	Het
Ikbkb	A	T	8: 23,172,740 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,578,337 (GRCm39)	S391G	probably benign	Het
Kif26a	C	T	12: 112,140,286 (GRCm39)	T505M	probably damaging	Het
Kif3b	A	T	2: 153,159,460 (GRCm39)	K420N	probably benign	Het
Kmt2a	A	G	9: 44,730,294 (GRCm39)	V3341A	unknown	Het
Lce1i	T	C	3: 92,685,081 (GRCm39)	K32E	unknown	Het
Lmf1	A	G	17: 25,881,514 (GRCm39)	Y521C	probably damaging	Het
Mki67	C	T	7: 135,305,913 (GRCm39)	C655Y	probably damaging	Het
Morc3	T	A	16: 93,667,401 (GRCm39)	V593E	probably benign	Het
Muc16	A	G	9: 18,497,314 (GRCm39)	F6613L	probably benign	Het
Naip1	G	A	13: 100,563,101 (GRCm39)	T688I	probably benign	Het
Or2n1d	T	A	17: 38,646,540 (GRCm39)	L164*	probably null	Het
Otop2	T	A	11: 115,214,503 (GRCm39)	C87S	probably benign	Het
Picalm	T	A	7: 89,810,484 (GRCm39)	L97*	probably null	Het
Pik3c2g	T	A	6: 139,606,768 (GRCm39)	W272R	probably damaging	Het
Plekhg4	G	A	8: 106,101,398 (GRCm39)	G20R	unknown	Het
Ppp1r35	G	A	5: 137,777,304 (GRCm39)	A17T	unknown	Het
Ppp2r5e	A	T	12: 75,509,167 (GRCm39)	Y371N	possibly damaging	Het
Rexo1	T	C	10: 80,386,872 (GRCm39)	E62G	probably damaging	Het
Rtl1	T	C	12: 109,556,973 (GRCm39)	E1622G	probably damaging	Het
Ryr1	T	C	7: 28,723,600 (GRCm39)	E4181G	probably damaging	Het
Saxo1	C	A	4: 86,397,132 (GRCm39)	M135I	probably benign	Het
Shank2	C	A	7: 143,964,183 (GRCm39)	P597Q	possibly damaging	Het
Shld2	G	A	14: 33,971,245 (GRCm39)	Q547*	probably null	Het
Slc44a1	G	A	4: 53,542,389 (GRCm39)	V308I	probably benign	Het
Slc6a21	A	G	7: 44,937,785 (GRCm39)	H367R	probably benign	Het
Snx11	G	T	11: 96,660,023 (GRCm39)	T222K	probably benign	Het
Snx4	C	T	16: 33,112,228 (GRCm39)	Q388*	probably null	Het
Sulf1	T	C	1: 12,918,622 (GRCm39)	L831P	probably damaging	Het
Ugt2a3	A	T	5: 87,485,018 (GRCm39)	V2D		Het
Unc5c	T	C	3: 141,494,683 (GRCm39)	V406A	possibly damaging	Het
Unc5d	A	C	8: 29,365,639 (GRCm39)	N115K	probably damaging	Het
Usp28	C	A	9: 48,947,026 (GRCm39)	T819N	probably damaging	Het
Usp42	T	C	5: 143,702,704 (GRCm39)	D639G	possibly damaging	Het
Vmn2r102	T	A	17: 19,897,564 (GRCm39)	M193K	possibly damaging	Het
Vmn2r12	A	G	5: 109,239,823 (GRCm39)	Y247H	probably damaging	Het
Vps13d	T	C	4: 144,822,814 (GRCm39)	D2989G		Het
Vsig2	A	G	9: 37,455,335 (GRCm39)	E295G	probably benign	Het
Wdfy3	T	A	5: 102,055,333 (GRCm39)	N1579I	probably benign	Het
Zfp521	T	C	18: 13,980,173 (GRCm39)	D80G	possibly damaging	Het
Zfp663	A	C	2: 165,195,607 (GRCm39)	L204R	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
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
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
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'- GGCTTTCACTCAAACATGTCATG -3'
(R):5'- GACATCAGCAATACACATCATTTGC -3'

Sequencing Primer
(F):5'- ACATGTCATGTTTCATGGTTTTAGC -3'
(R):5'- ACATCATTTGCAGGCCGTAG -3'

Posted On

2022-07-18