Mutagenetix > Incidental Mutation

Incidental Mutation 'R8341:Eif2ak1'

644889

Institutional Source

Beutler Lab

Gene Symbol

Eif2ak1

Ensembl Gene

ENSMUSG00000029613

Gene Name

eukaryotic translation initiation factor 2 alpha kinase 1

Synonyms

Hri

MMRRC Submission

067865-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R8341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143803530-143839535 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143821755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 357 (D357V)

Ref Sequence

ENSEMBL: ENSMUSP00000098056 (fasta)

Gene Model

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

AlphaFold

Q9Z2R9

Predicted Effect

probably benign
Transcript: ENSMUST00000100487
AA Change: D357V

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613
AA Change: D357V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,845,876 (GRCm39)	I915F	probably damaging	Het
Adam11	C	A	11: 102,667,362 (GRCm39)	H641N	probably damaging	Het
Amfr	A	G	8: 94,725,806 (GRCm39)	S192P	probably damaging	Het
Ano9	T	A	7: 140,682,247 (GRCm39)	N676I	possibly damaging	Het
Arfgef1	C	T	1: 10,224,553 (GRCm39)	V1428I	probably benign	Het
B3gnt9	C	T	8: 105,980,497 (GRCm39)	R297H	probably benign	Het
Bace2	C	T	16: 97,158,108 (GRCm39)	A36V	possibly damaging	Het
C1s1	C	T	6: 124,508,115 (GRCm39)	A625T	probably damaging	Het
Camkmt	T	C	17: 85,747,008 (GRCm39)	L251P	probably damaging	Het
Ceacam15	C	A	7: 16,405,928 (GRCm39)	V208F	probably benign	Het
Clp1	T	C	2: 84,554,117 (GRCm39)	K351E	probably damaging	Het
Csmd3	T	C	15: 47,561,547 (GRCm39)	Y1343C		Het
Cubn	C	A	2: 13,433,535 (GRCm39)	G1125V	probably damaging	Het
Dpp4	C	T	2: 62,178,234 (GRCm39)	V633I	probably benign	Het
Fez1	T	C	9: 36,787,605 (GRCm39)	M370T	possibly damaging	Het
Frk	G	A	10: 34,462,279 (GRCm39)	E257K	probably damaging	Het
Gm7579	T	A	7: 141,765,856 (GRCm39)	C87*	probably null	Het
Henmt1	T	C	3: 108,865,908 (GRCm39)	V211A	probably damaging	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Ints9	T	A	14: 65,273,863 (GRCm39)	V556E	probably benign	Het
Itprid2	A	T	2: 79,488,062 (GRCm39)	K715I	probably damaging	Het
Klhl41	T	C	2: 69,500,868 (GRCm39)	S110P	probably benign	Het
Klrk1	T	C	6: 129,599,663 (GRCm39)		probably benign	Het
Kmt2e	A	T	5: 23,704,451 (GRCm39)	S1215C	probably damaging	Het
Lyn	T	C	4: 3,743,304 (GRCm39)		probably null	Het
Map2k5	T	A	9: 63,246,380 (GRCm39)	N116Y	probably damaging	Het
Map3k13	G	T	16: 21,740,334 (GRCm39)	E554*	probably null	Het
Map6	A	G	7: 98,917,647 (GRCm39)	E140G	possibly damaging	Het
Mpv17	A	C	5: 31,311,447 (GRCm39)		probably null	Het
Myo1c	C	T	11: 75,562,253 (GRCm39)	P883S	probably benign	Het
Myo7b	T	C	18: 32,116,979 (GRCm39)	M914V	probably benign	Het
Olfm2	C	T	9: 20,583,918 (GRCm39)		probably null	Het
Or2b4	G	A	17: 38,116,543 (GRCm39)	C169Y	probably damaging	Het
Osbpl7	T	G	11: 96,950,989 (GRCm39)	L612R	probably damaging	Het
Polq	A	T	16: 36,892,133 (GRCm39)	M2012L	possibly damaging	Het
Ppp1r7	G	A	1: 93,274,000 (GRCm39)	D59N	probably benign	Het
Ppp4r3c2	A	T	X: 88,798,322 (GRCm39)	K718M	probably damaging	Het
Ptbp1	A	C	10: 79,699,045 (GRCm39)	E534D	probably benign	Het
Qser1	A	G	2: 104,619,820 (GRCm39)	Y241H	probably damaging	Het
Rbx1	T	C	15: 81,358,078 (GRCm39)	L88P	probably damaging	Het
Rft1	T	C	14: 30,411,838 (GRCm39)	L462P	probably damaging	Het
Serpinb9f	T	A	13: 33,511,290 (GRCm39)	L77*	probably null	Het
Shisa9	T	C	16: 11,815,015 (GRCm39)	M221T	possibly damaging	Het
Slc12a2	T	G	18: 58,012,281 (GRCm39)	F135V	possibly damaging	Het
Slc23a1	C	T	18: 35,755,588 (GRCm39)	G436E	probably damaging	Het
Slc44a2	T	C	9: 21,253,495 (GRCm39)	F88L	probably benign	Het
Snx21	A	G	2: 164,633,805 (GRCm39)	E197G	probably damaging	Het
Srarp	T	C	4: 141,160,707 (GRCm39)	D42G	possibly damaging	Het
St6galnac1	T	A	11: 116,659,714 (GRCm39)	M200L	probably benign	Het
Stambpl1	A	T	19: 34,211,401 (GRCm39)	Q154L	probably benign	Het
Szt2	G	T	4: 118,250,033 (GRCm39)	R492S	possibly damaging	Het
Thbs3	G	A	3: 89,132,698 (GRCm39)	R880Q	probably benign	Het
Tnks	A	T	8: 35,340,199 (GRCm39)	L473H	probably damaging	Het
Ttc4	A	G	4: 106,522,893 (GRCm39)	S342P	probably benign	Het
Uckl1	T	A	2: 181,211,512 (GRCm39)	M463L	probably benign	Het
Unc80	T	C	1: 66,688,192 (GRCm39)	S2397P	possibly damaging	Het
Vmn2r73	T	A	7: 85,507,128 (GRCm39)	H728L	probably benign	Het
Vsig10l	T	C	7: 43,113,378 (GRCm39)	V110A	probably damaging	Het
Zgrf1	T	A	3: 127,354,564 (GRCm39)	L61*	probably null	Het
Zswim5	A	G	4: 116,843,989 (GRCm39)	Y1009C	probably damaging	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
R3889: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
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'- TTTGCTGAACTCACCCCAG -3'
(R):5'- CCACACTGAGTCCATGAGAC -3'

Sequencing Primer
(F):5'- AAAACCTTTTGGGGAGTCTGAG -3'
(R):5'- TGAGACTAAACAGAAGAAAACCCATG -3'

Posted On

2020-09-02