Mutagenetix > Incidental Mutation

Incidental Mutation 'R3889:Eif2ak1'

310182

Institutional Source

Beutler Lab

Gene Symbol

Eif2ak1

Ensembl Gene

ENSMUSG00000029613

Gene Name

eukaryotic translation initiation factor 2 alpha kinase 1

Synonyms

Hri

MMRRC Submission

040801-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R3889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143803530-143839535 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143821479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 265 (Q265L)

Ref Sequence

ENSEMBL: ENSMUSP00000098056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100487]

AlphaFold

Q9Z2R9

Predicted Effect

probably benign
Transcript: ENSMUST00000100487
AA Change: Q265L

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613
AA Change: Q265L

Domain	Start	End	E-Value	Type
low complexity region	12	28	N/A	INTRINSIC
low complexity region	62	81	N/A	INTRINSIC
Pfam:Pkinase_Tyr	167	242	5.6e-6	PFAM
Pfam:Pkinase	167	257	1.9e-15	PFAM
low complexity region	314	320	N/A	INTRINSIC
Pfam:Pkinase	365	580	1.3e-31	PFAM
Pfam:Pkinase_Tyr	373	578	1.9e-19	PFAM
coiled coil region	585	619	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140013

Meta Mutation Damage Score

0.1578

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

94% (51/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit enlarged heart size and abnormal red blood cell development, morphology, and physiology with macrocytic anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	A	1: 85,868,273 (GRCm39)		probably null	Het
7530416G11Rik	A	G	15: 85,378,292 (GRCm39)	F117S	unknown	Het
Adamts5	A	G	16: 85,665,009 (GRCm39)	W652R	probably damaging	Het
Adamtsl4	G	T	3: 95,588,167 (GRCm39)	Q607K	probably damaging	Het
Atm	T	C	9: 53,417,936 (GRCm39)		probably benign	Het
Atp6v0a2	G	A	5: 124,777,203 (GRCm39)	R168Q	probably damaging	Het
B930094E09Rik	G	A	18: 31,742,742 (GRCm39)	S59N	unknown	Het
Baiap2l1	T	C	5: 144,215,345 (GRCm39)	T387A	possibly damaging	Het
Cct3	A	T	3: 88,228,334 (GRCm39)	Q472L	probably benign	Het
Chd3	C	T	11: 69,250,011 (GRCm39)	E623K	probably damaging	Het
Cps1	C	A	1: 67,204,659 (GRCm39)	T493K	possibly damaging	Het
Dclre1a	A	T	19: 56,533,752 (GRCm39)	C263S	probably benign	Het
Dmxl1	T	A	18: 50,011,326 (GRCm39)	M1161K	probably damaging	Het
Elp1	G	A	4: 56,759,852 (GRCm39)	R1138C	probably damaging	Het
Epha3	A	G	16: 63,431,327 (GRCm39)	F526L	probably damaging	Het
Etl4	C	T	2: 20,534,772 (GRCm39)	Q76*	probably null	Het
Fat2	C	A	11: 55,172,589 (GRCm39)	G2708V	probably damaging	Het
Fgd6	G	A	10: 93,925,499 (GRCm39)	E853K	probably damaging	Het
Fn1	T	C	1: 71,679,465 (GRCm39)	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,765,483 (GRCm39)	H179R	unknown	Het
Fsd1	A	G	17: 56,300,893 (GRCm39)	K251E	probably benign	Het
Gjc3	T	A	5: 137,956,105 (GRCm39)	N60I	possibly damaging	Het
Gpc5	T	C	14: 115,607,472 (GRCm39)	M358T	probably benign	Het
H6pd	T	A	4: 150,080,230 (GRCm39)	Y197F	possibly damaging	Het
Hip1r	C	T	5: 124,139,854 (GRCm39)	R986*	probably null	Het
Igkv9-120	A	G	6: 68,027,362 (GRCm39)	D92G	probably damaging	Het
Il6	A	G	5: 30,223,066 (GRCm39)	K128E	possibly damaging	Het
Irf4	T	C	13: 30,945,473 (GRCm39)		probably benign	Het
Lcor	T	A	19: 41,546,795 (GRCm39)	S126R	probably damaging	Het
Ltbp2	A	G	12: 84,831,681 (GRCm39)		probably benign	Het
Pcmt1	C	T	10: 7,524,814 (GRCm39)		probably null	Het
Plekhm2	C	T	4: 141,369,301 (GRCm39)		probably benign	Het
Prkca	C	T	11: 107,870,066 (GRCm39)	G450R	probably damaging	Het
Psme3	C	A	11: 101,210,282 (GRCm39)	P82T	probably damaging	Het
Rgs11	T	C	17: 26,426,561 (GRCm39)	I262T	probably damaging	Het
Rreb1	G	T	13: 38,077,941 (GRCm39)	R51L	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Serpina1e	A	T	12: 103,917,132 (GRCm39)	V179E	probably damaging	Het
Sgo2b	T	C	8: 64,380,777 (GRCm39)	Q685R	possibly damaging	Het
Slc15a2	A	G	16: 36,602,666 (GRCm39)	F65S	probably damaging	Het
Slc25a45	C	T	19: 5,930,661 (GRCm39)		probably benign	Het
Snapc4	G	A	2: 26,255,510 (GRCm39)	Q1005*	probably null	Het
Spen	A	G	4: 141,205,192 (GRCm39)	V1145A	unknown	Het
Stub1	T	C	17: 26,050,276 (GRCm39)		probably benign	Het
Taar8a	A	G	10: 23,952,923 (GRCm39)	I176V	probably benign	Het
Tacr2	G	A	10: 62,100,865 (GRCm39)	C325Y	probably damaging	Het
Tbc1d17	T	A	7: 44,495,362 (GRCm39)	H154L	probably damaging	Het
Tll1	A	T	8: 64,658,258 (GRCm39)	C54S	possibly damaging	Het
Tpsb2	G	A	17: 25,586,457 (GRCm39)	V181I	probably damaging	Het
Trak1	A	G	9: 121,274,939 (GRCm39)	N146S	probably null	Het
Vmn1r177	T	C	7: 23,565,289 (GRCm39)	I196V	possibly damaging	Het
Zfp820	T	C	17: 22,037,877 (GRCm39)	I484V	probably benign	Het

Other mutations in Eif2ak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Eif2ak1	APN	5	143,826,288 (GRCm39)	missense	probably damaging	0.99
IGL02170:Eif2ak1	APN	5	143,816,278 (GRCm39)	missense	probably benign	0.01
IGL02472:Eif2ak1	APN	5	143,821,701 (GRCm39)	missense	probably benign	0.00
IGL02898:Eif2ak1	APN	5	143,826,270 (GRCm39)	missense	probably damaging	1.00
IGL03078:Eif2ak1	APN	5	143,810,587 (GRCm39)	missense	probably benign	0.02
PIT4520001:Eif2ak1	UTSW	5	143,836,027 (GRCm39)	nonsense	probably null
R0523:Eif2ak1	UTSW	5	143,818,984 (GRCm39)	missense	probably damaging	1.00
R0755:Eif2ak1	UTSW	5	143,821,742 (GRCm39)	missense	possibly damaging	0.94
R1128:Eif2ak1	UTSW	5	143,835,994 (GRCm39)	splice site	probably null
R1203:Eif2ak1	UTSW	5	143,820,797 (GRCm39)	missense	probably benign	0.00
R1445:Eif2ak1	UTSW	5	143,810,717 (GRCm39)	splice site	probably benign
R1474:Eif2ak1	UTSW	5	143,808,785 (GRCm39)	missense	probably damaging	1.00
R1972:Eif2ak1	UTSW	5	143,821,532 (GRCm39)	missense	probably benign	0.04
R3885:Eif2ak1	UTSW	5	143,821,479 (GRCm39)	missense	probably benign	0.21
R4754:Eif2ak1	UTSW	5	143,838,621 (GRCm39)	missense	probably damaging	0.99
R4971:Eif2ak1	UTSW	5	143,818,986 (GRCm39)	missense	probably damaging	1.00
R5007:Eif2ak1	UTSW	5	143,810,698 (GRCm39)	missense	probably benign
R5487:Eif2ak1	UTSW	5	143,833,981 (GRCm39)	critical splice acceptor site	probably null
R5505:Eif2ak1	UTSW	5	143,803,745 (GRCm39)	missense	probably benign
R5808:Eif2ak1	UTSW	5	143,820,812 (GRCm39)	missense	probably benign	0.21
R5888:Eif2ak1	UTSW	5	143,823,733 (GRCm39)	missense	probably damaging	1.00
R6290:Eif2ak1	UTSW	5	143,821,617 (GRCm39)	missense	probably benign	0.34
R6322:Eif2ak1	UTSW	5	143,835,913 (GRCm39)	missense	probably benign	0.05
R6475:Eif2ak1	UTSW	5	143,803,765 (GRCm39)	splice site	probably null
R7343:Eif2ak1	UTSW	5	143,814,489 (GRCm39)	missense	probably damaging	1.00
R7525:Eif2ak1	UTSW	5	143,823,716 (GRCm39)	missense	probably damaging	1.00
R7554:Eif2ak1	UTSW	5	143,816,296 (GRCm39)	missense	probably damaging	1.00
R7659:Eif2ak1	UTSW	5	143,826,280 (GRCm39)	missense	probably damaging	1.00
R8341:Eif2ak1	UTSW	5	143,821,755 (GRCm39)	missense	probably benign	0.34
R8537:Eif2ak1	UTSW	5	143,835,887 (GRCm39)	missense	probably damaging	1.00
R8808:Eif2ak1	UTSW	5	143,816,264 (GRCm39)	missense	probably damaging	1.00
R9062:Eif2ak1	UTSW	5	143,803,548 (GRCm39)	start gained	probably benign
R9748:Eif2ak1	UTSW	5	143,819,031 (GRCm39)	missense	probably damaging	0.99
X0027:Eif2ak1	UTSW	5	143,816,253 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTGAATGCTGCCCAGATTTG -3'
(R):5'- GGACGATTCACTTTCACTGC -3'

Sequencing Primer
(F):5'- TTAAGACAGTGTCCCATGTAGCGC -3'
(R):5'- GCTGTTCCTGACCACTAAGTTGG -3'

Posted On

2015-04-17