Mutagenetix > Incidental Mutation

Incidental Mutation 'R4754:Eif2ak1'

357795

Institutional Source

Beutler Lab

Gene Symbol

Eif2ak1

Ensembl Gene

ENSMUSG00000029613

Gene Name

eukaryotic translation initiation factor 2 alpha kinase 1

Synonyms

Hri

Accession Numbers

Essential gene?

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

Stock #

R4754 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143803530-143839535 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143838621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 592 (M592V)

Ref Sequence

ENSEMBL: ENSMUSP00000098056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031613] [ENSMUST00000100483] [ENSMUST00000100487] [ENSMUST00000110718]

AlphaFold

Q9Z2R9

Predicted Effect

probably benign
Transcript: ENSMUST00000031613

SMART Domains

Protein: ENSMUSP00000031613
Gene: ENSMUSG00000029610

Domain	Start	End	E-Value	Type
Pfam:AIMP2_LysRS_bd	1	44	8.3e-26	PFAM
low complexity region	133	142	N/A	INTRINSIC
Pfam:GST_C_3	231	308	2.5e-10	PFAM
Pfam:GST_C	242	310	5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100483

SMART Domains

Protein: ENSMUSP00000098052
Gene: ENSMUSG00000029610

Domain	Start	End	E-Value	Type
low complexity region	93	102	N/A	INTRINSIC
Pfam:GST_C_3	185	268	1.1e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100487
AA Change: M592V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613
AA Change: M592V

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

probably benign
Transcript: ENSMUST00000110718

SMART Domains

Protein: ENSMUSP00000106346
Gene: ENSMUSG00000029607

Domain	Start	End	E-Value	Type
ANK	35	60	2.55e2	SMART
ANK	64	117	8.5e2	SMART
ANK	123	152	1.27e-2	SMART
ANK	156	185	7.95e-4	SMART
ANK	190	229	3.74e0	SMART
ANK	233	262	3.46e-4	SMART
Blast:ANK	266	299	4e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149473

Meta Mutation Damage Score

0.0836

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (107/109)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,856,837 (GRCm39)	Y63C	probably damaging	Het
Abcb4	C	A	5: 8,960,717 (GRCm39)	F266L	probably damaging	Het
Adam8	A	T	7: 139,564,693 (GRCm39)	I681N	possibly damaging	Het
Adgrf3	T	A	5: 30,402,615 (GRCm39)		probably null	Het
Ang2	A	G	14: 51,432,974 (GRCm39)	V136A	probably damaging	Het
Ankar	C	T	1: 72,737,853 (GRCm39)	G110R	probably damaging	Het
Ap3b1	T	C	13: 94,540,468 (GRCm39)	L130P	probably damaging	Het
Apc2	T	G	10: 80,150,192 (GRCm39)	W1749G	probably benign	Het
Asb2	T	C	12: 103,290,096 (GRCm39)	N565S	possibly damaging	Het
B3gnt7	C	A	1: 86,233,279 (GRCm39)	T58K	probably benign	Het
Bltp1	C	T	3: 37,076,615 (GRCm39)	Q3663*	probably null	Het
Brpf1	T	A	6: 113,297,408 (GRCm39)	N876K	possibly damaging	Het
Ccdc157	T	C	11: 4,098,994 (GRCm39)	I69V	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 104,912,410 (GRCm39)	I555F	probably damaging	Het
Cfap73	T	C	5: 120,767,729 (GRCm39)	D274G	probably damaging	Het
Chd5	T	A	4: 152,462,203 (GRCm39)	I1310N	probably damaging	Het
Ckap2	T	A	8: 22,658,911 (GRCm39)	I611F	possibly damaging	Het
Cpeb2	A	G	5: 43,443,200 (GRCm39)	I964V	possibly damaging	Het
Ctbp2	C	A	7: 132,625,287 (GRCm39)		probably null	Het
Dhrs2	A	T	14: 55,476,205 (GRCm39)	I142F	probably damaging	Het
Dnah5	T	A	15: 28,421,101 (GRCm39)		probably null	Het
Dst	T	C	1: 34,251,390 (GRCm39)	S1822P	probably damaging	Het
Ect2	T	C	3: 27,181,112 (GRCm39)	K581E	probably damaging	Het
Edem1	C	T	6: 108,818,658 (GRCm39)	T222M	probably damaging	Het
Endou	T	G	15: 97,624,420 (GRCm39)	D49A	probably damaging	Het
Ensa	A	G	3: 95,529,865 (GRCm39)		probably benign	Het
Evc2	G	T	5: 37,544,375 (GRCm39)	R708L	probably damaging	Het
Fam120b	T	A	17: 15,643,224 (GRCm39)	C668S	probably damaging	Het
Fam135a	A	T	1: 24,067,835 (GRCm39)	C798*	probably null	Het
Fam135b	T	C	15: 71,334,800 (GRCm39)	D798G	probably benign	Het
Fshb	A	C	2: 106,887,627 (GRCm39)	*131E	probably null	Het
G3bp2	C	T	5: 92,202,768 (GRCm39)	V441M	possibly damaging	Het
Galnt6	A	T	15: 100,597,105 (GRCm39)	F354I	probably damaging	Het
Gm1123	C	A	9: 98,905,293 (GRCm39)		probably null	Het
Gm1123	A	T	9: 98,905,294 (GRCm39)		probably null	Het
Gm15130	T	C	2: 110,973,207 (GRCm39)	N115S	unknown	Het
Gm7104	A	G	12: 88,252,765 (GRCm39)		noncoding transcript	Het
Gm9762	A	T	3: 78,873,728 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,756,173 (GRCm39)	T505A	probably damaging	Het
Grip2	A	G	6: 91,756,163 (GRCm39)	V508A	probably damaging	Het
Haus4	A	G	14: 54,787,349 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,408,488 (GRCm39)	D4571E	probably benign	Het
Hnrnpk	T	A	13: 58,546,950 (GRCm39)		probably benign	Het
Ica1l	T	C	1: 60,067,321 (GRCm39)	Y23C	probably damaging	Het
Kansl2-ps	A	G	7: 72,322,881 (GRCm39)		noncoding transcript	Het
Kcnma1	T	C	14: 23,413,904 (GRCm39)	D833G	probably damaging	Het
Kmt2e	A	T	5: 23,687,439 (GRCm39)	I430F	possibly damaging	Het
Lama2	C	A	10: 26,994,527 (GRCm39)	R1794L	possibly damaging	Het
Mcpt1	T	A	14: 56,256,137 (GRCm39)	F59I	probably damaging	Het
Mib2	G	T	4: 155,739,822 (GRCm39)	T783K	possibly damaging	Het
Nlrp4g	T	C	9: 124,349,788 (GRCm38)		noncoding transcript	Het
Nudt16l2	A	T	9: 105,021,592 (GRCm39)	F151L	probably benign	Het
Obscn	T	C	11: 58,926,869 (GRCm39)	I6352V	possibly damaging	Het
Or2j6	C	T	7: 139,980,072 (GRCm39)	A296T	probably damaging	Het
Or4a72	A	T	2: 89,405,391 (GRCm39)	H226Q	probably benign	Het
Or4k1	T	A	14: 50,377,490 (GRCm39)	N202I	possibly damaging	Het
Or4k1	T	G	14: 50,377,491 (GRCm39)	N202H	probably benign	Het
Or52a5	T	C	7: 103,426,875 (GRCm39)	I226V	probably benign	Het
Or5b125-ps1	T	A	19: 13,056,225 (GRCm39)		noncoding transcript	Het
Pcdh10	G	A	3: 45,335,072 (GRCm39)	R462H	probably damaging	Het
Pcdhga12	C	A	18: 37,899,604 (GRCm39)	N145K	probably damaging	Het
Pik3r6	T	A	11: 68,435,601 (GRCm39)	L613Q	probably damaging	Het
Pknox2	T	C	9: 36,821,016 (GRCm39)	D282G	probably damaging	Het
Plod2	T	G	9: 92,488,584 (GRCm39)	Y624*	probably null	Het
Prkd3	C	A	17: 79,264,043 (GRCm39)	V684F	probably damaging	Het
Ptpn1	T	A	2: 167,816,080 (GRCm39)	V198D	probably damaging	Het
Ptpn12	G	T	5: 21,203,587 (GRCm39)	P397Q	probably benign	Het
Rad1	C	A	15: 10,493,212 (GRCm39)		probably benign	Het
Rasl11a	A	G	5: 146,783,825 (GRCm39)	D90G	probably benign	Het
Rnf181	A	G	6: 72,337,543 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,587,984 (GRCm39)	I2652M	possibly damaging	Het
Siglecg	C	T	7: 43,061,295 (GRCm39)		probably benign	Het
Slc22a3	T	C	17: 12,726,082 (GRCm39)	S44G	probably benign	Het
Slc38a1	A	T	15: 96,474,663 (GRCm39)	F463I	probably damaging	Het
Smg1	A	T	7: 117,755,954 (GRCm39)		probably benign	Het
Syk	T	C	13: 52,766,295 (GRCm39)		probably benign	Het
Tasor	A	T	14: 27,183,052 (GRCm39)	I504L	probably benign	Het
Tbc1d5	T	C	17: 51,107,193 (GRCm39)	I454M	probably benign	Het
Tmed6	C	A	8: 107,790,362 (GRCm39)	D146Y	probably damaging	Het
Tmem132e	A	T	11: 82,335,677 (GRCm39)	K828*	probably null	Het
Tmprss15	A	T	16: 78,851,012 (GRCm39)	S294T	probably damaging	Het
Trp53bp1	A	G	2: 121,038,360 (GRCm39)	S1493P	probably damaging	Het
Tshb	A	T	3: 102,685,491 (GRCm39)	I46N	probably damaging	Het
Tspan11	T	C	6: 127,915,183 (GRCm39)	V99A	probably benign	Het
Ttn	T	C	2: 76,545,905 (GRCm39)	T24176A	probably benign	Het
Vmn1r8	T	C	6: 57,012,952 (GRCm39)	M1T	probably null	Het
Vmn2r104	A	T	17: 20,261,030 (GRCm39)	Y464*	probably null	Het
Vmn2r110	T	C	17: 20,816,458 (GRCm39)	T22A	probably benign	Het
Vmn2r17	T	A	5: 109,600,715 (GRCm39)	I671K	probably damaging	Het
Zbtb21	T	C	16: 97,752,466 (GRCm39)	N606D	probably damaging	Het
Zfy2	A	T	Y: 2,121,477 (GRCm39)	S139T	probably benign	Het
Zkscan17	G	A	11: 59,393,851 (GRCm39)	R156*	probably null	Het
Zp2	A	G	7: 119,737,541 (GRCm39)	V248A	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
R3889:Eif2ak1	UTSW	5	143,821,479 (GRCm39)	missense	probably benign	0.21
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'- GGAAGACACCCAATGAGCTG -3'
(R):5'- CCTCACTAAGGGTTGGAAATGTAC -3'

Sequencing Primer
(F):5'- CCAATGAGCTGCAGACATAATCTTTG -3'
(R):5'- CACTAAGGGTTGGAAATGTACATTCC -3'

Posted On

2015-11-11