Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02170:Eif2ak1'

282900

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02170

Quality Score

Status

Chromosome

Chromosomal Location

143803530-143839535 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143816278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 192 (H192L)

Ref Sequence

ENSEMBL: ENSMUSP00000098056 (fasta)

Gene Model

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

AlphaFold

Q9Z2R9

Predicted Effect

probably benign
Transcript: ENSMUST00000100487
AA Change: H192L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613
AA Change: H192L

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

Coding Region Coverage

Validation Efficiency

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
2610318N02Rik	G	A	16: 16,936,196 (GRCm39)	P176L	probably damaging	Het
4932414N04Rik	A	G	2: 68,561,467 (GRCm39)	M265V	probably benign	Het
A2ml1	T	C	6: 128,524,173 (GRCm39)	E1153G	possibly damaging	Het
Adam22	T	C	5: 8,184,845 (GRCm39)	T452A	probably benign	Het
Ambra1	A	G	2: 91,597,432 (GRCm39)	T56A	possibly damaging	Het
Atp1a4	A	G	1: 172,062,103 (GRCm39)	V674A	possibly damaging	Het
Ccnb1	A	T	13: 100,919,994 (GRCm39)	Y172*	probably null	Het
Chrdl2	A	T	7: 99,683,821 (GRCm39)	T416S	possibly damaging	Het
Col6a5	A	G	9: 105,805,621 (GRCm39)	L1095P	unknown	Het
Dhx16	T	C	17: 36,200,361 (GRCm39)	C901R	probably damaging	Het
Dip2c	A	G	13: 9,656,371 (GRCm39)	T732A	probably benign	Het
Dnah12	A	C	14: 26,495,069 (GRCm39)	I1376L	probably damaging	Het
Dock2	A	T	11: 34,217,949 (GRCm39)	L1207Q	probably damaging	Het
Evi5	T	A	5: 107,969,750 (GRCm39)	T54S	probably benign	Het
Fam151a	T	C	4: 106,592,795 (GRCm39)		probably null	Het
Fam98a	C	T	17: 75,847,187 (GRCm39)		probably null	Het
Frmd4a	G	A	2: 4,570,988 (GRCm39)	R306K	probably damaging	Het
Fxyd7	C	A	7: 30,744,432 (GRCm39)	V28L	possibly damaging	Het
Gabrb1	T	A	5: 72,294,073 (GRCm39)	I449K	probably damaging	Het
Gkn3	G	T	6: 87,360,493 (GRCm39)	D167E	possibly damaging	Het
Gm14496	A	T	2: 181,638,144 (GRCm39)	Y406F	probably damaging	Het
Gm8603	T	A	17: 13,737,073 (GRCm39)		noncoding transcript	Het
Hecw1	T	C	13: 14,438,743 (GRCm39)	N880S	possibly damaging	Het
Hivep2	C	A	10: 14,003,548 (GRCm39)	Q49K	possibly damaging	Het
Hscb	T	A	5: 110,987,492 (GRCm39)	S35C	probably damaging	Het
Hspa12a	T	G	19: 58,793,113 (GRCm39)	K357N	probably benign	Het
Kcnu1	A	T	8: 26,427,588 (GRCm39)	I302F	probably damaging	Het
Krtap5-3	T	A	7: 141,756,215 (GRCm39)	C351S	unknown	Het
Mvd	A	G	8: 123,164,747 (GRCm39)	V142A	probably benign	Het
Myo1f	A	T	17: 33,797,246 (GRCm39)	I143L	probably benign	Het
Ncoa7	T	A	10: 30,565,849 (GRCm39)	E599D	possibly damaging	Het
Nfasc	A	T	1: 132,538,104 (GRCm39)	C495*	probably null	Het
Nfx1	G	A	4: 41,018,019 (GRCm39)	G920E	probably damaging	Het
Nlrp4g	T	G	9: 124,348,980 (GRCm38)		noncoding transcript	Het
Nup85	T	A	11: 115,468,757 (GRCm39)	V200E	probably damaging	Het
Or2z2	T	A	11: 58,345,906 (GRCm39)	I290F	probably damaging	Het
Or5an1c	T	C	19: 12,218,120 (GRCm39)	M302V	probably benign	Het
Pask	T	C	1: 93,238,606 (GRCm39)	Q1293R	possibly damaging	Het
Ppfia2	T	A	10: 106,636,646 (GRCm39)	S232T	probably benign	Het
Prr12	G	A	7: 44,695,612 (GRCm39)	R1285W	unknown	Het
Rimoc1	C	T	15: 4,015,848 (GRCm39)	V239I	probably benign	Het
Rxylt1	A	T	10: 121,930,548 (GRCm39)	D126E	probably damaging	Het
Slc1a1	T	A	19: 28,880,153 (GRCm39)	F278I	possibly damaging	Het
Sos1	G	T	17: 80,705,719 (GRCm39)	T1284N	probably damaging	Het
Sp2	T	A	11: 96,847,036 (GRCm39)	Q475L	probably damaging	Het
Spmip2	C	A	3: 79,356,741 (GRCm39)		probably benign	Het
Spmip2	C	A	3: 79,356,742 (GRCm39)		probably benign	Het
Sspo	A	T	6: 48,444,917 (GRCm39)	T2134S	possibly damaging	Het
Tbx1	C	A	16: 18,401,552 (GRCm39)	A300S	probably benign	Het
Uap1	A	C	1: 169,994,281 (GRCm39)	V65G	probably benign	Het
Ubr2	G	A	17: 47,278,123 (GRCm39)	T738I	probably benign	Het
Uvrag	A	T	7: 98,758,297 (GRCm39)	Y81*	probably null	Het
Vmn2r116	T	G	17: 23,603,907 (GRCm39)	I44S	probably benign	Het
Xkr8	A	T	4: 132,455,688 (GRCm39)	Y228*	probably null	Het
Zbtb20	A	G	16: 43,430,025 (GRCm39)	I106V	possibly damaging	Het
Zc3h7a	C	T	16: 10,964,259 (GRCm39)	S683N	probably benign	Het
Zfp146	A	T	7: 29,861,905 (GRCm39)	C46S	possibly damaging	Het
Zfp871	T	C	17: 32,994,662 (GRCm39)	E152G	possibly damaging	Het
Zfp90	T	C	8: 107,146,156 (GRCm39)	V57A	probably damaging	Het
Zhx3	A	T	2: 160,621,718 (GRCm39)	N816K	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
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
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

Posted On

2015-04-16