Mutagenetix > Incidental Mutations

Incidental Mutation 'R7525:Eif2ak1'

582913

Institutional Source

Beutler Lab

Gene Symbol

Eif2ak1

Ensembl Gene

ENSMUSG00000029613

Gene Name

eukaryotic translation initiation factor 2 alpha kinase 1

Synonyms

Hri

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R7525 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143817788-143904251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143886898 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 388 (S388P)

Ref Sequence

ENSEMBL: ENSMUSP00000098056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079624] [ENSMUST00000100487] [ENSMUST00000110717] [ENSMUST00000110718]

Predicted Effect

probably benign
Transcript: ENSMUST00000079624

SMART Domains

Protein: ENSMUSP00000078571
Gene: ENSMUSG00000029607

Domain	Start	End	E-Value	Type
ANK	36	61	2.55e2	SMART
ANK	65	118	8.5e2	SMART
ANK	124	153	1.27e-2	SMART
ANK	157	186	7.95e-4	SMART
ANK	191	230	3.74e0	SMART
ANK	234	263	3.46e-4	SMART
Blast:ANK	267	300	4e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000100487
AA Change: S388P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613
AA Change: S388P

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: ENSMUST00000110717

SMART Domains

Protein: ENSMUSP00000106345
Gene: ENSMUSG00000029607

Domain	Start	End	E-Value	Type
Blast:ANK	28	57	6e-11	BLAST
ANK	78	103	1.6e0	SMART
ANK	107	160	5.6e0	SMART
ANK	166	195	8.4e-5	SMART
ANK	199	228	5.3e-6	SMART
ANK	233	272	2.4e-2	SMART
ANK	276	305	2.3e-6	SMART
Blast:ANK	309	342	5e-11	BLAST

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,183,355	T998A	probably damaging	Het
AI314180	A	G	4: 58,847,038	I508T	possibly damaging	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Akt3	T	A	1: 177,020,107	K465*	probably null	Het
Ankar	T	C	1: 72,688,641	D371G	probably benign	Het
Ankib1	T	G	5: 3,755,734	N178H	possibly damaging	Het
Arhgap10	A	G	8: 77,420,070		probably null	Het
Arhgef4	A	G	1: 34,809,704	D286G	probably damaging	Het
Bsdc1	A	T	4: 129,461,684		probably benign	Het
Camk4	T	C	18: 33,185,032	V414A	probably benign	Het
Cyp2d9	T	A	15: 82,454,092	V139E	possibly damaging	Het
Dhrs13	C	A	11: 78,032,434	N21K	unknown	Het
Dopey1	C	T	9: 86,506,290	A439V	probably damaging	Het
Dpy19l4	G	A	4: 11,317,160	Q13*	probably null	Het
Emilin2	T	C	17: 71,274,979	S251G	probably benign	Het
Eml4	T	A	17: 83,445,950	L350Q	probably damaging	Het
Fblim1	A	T	4: 141,590,080	L98H	probably damaging	Het
Fcrl6	T	A	1: 172,597,672	N264I	probably benign	Het
Gm13124	A	G	4: 144,565,010	F42S	probably damaging	Het
Gzme	A	C	14: 56,119,333	D57E	probably benign	Het
H2-D1	A	G	17: 35,265,933	T257A	probably damaging	Het
Hectd4	C	A	5: 121,343,665	D3092E	possibly damaging	Het
Hrc	A	G	7: 45,336,379	E318G	probably benign	Het
Hspbp1	A	G	7: 4,663,436	L315P	probably damaging	Het
Insr	A	T	8: 3,192,642	Y591N	probably damaging	Het
Lrch4	T	A	5: 137,639,465	I582N	probably damaging	Het
Lrit2	A	G	14: 37,072,493	K505E	possibly damaging	Het
Lrp1b	A	T	2: 40,657,416	N4251K		Het
Mfsd13a	T	C	19: 46,369,277	F290S	probably damaging	Het
Mgam	T	G	6: 40,766,020	N1791K	probably benign	Het
Mroh7	A	T	4: 106,709,702	I450N	probably benign	Het
Mylk	G	A	16: 34,988,987	M1771I	probably benign	Het
Olfr1335	A	T	4: 118,809,494	F123L	probably damaging	Het
Olfr26	A	T	9: 38,855,238	M59L	possibly damaging	Het
Olfr612	A	T	7: 103,539,131	C34*	probably null	Het
Olfr972	T	A	9: 39,874,139	L288*	probably null	Het
Parp14	A	T	16: 35,857,491	H702Q	probably benign	Het
Pcdhga1	T	C	18: 37,662,228	L95P	probably damaging	Het
Pcsk5	T	C	19: 17,642,590	T373A	probably damaging	Het
Pdzph1	A	G	17: 58,967,341	V836A	possibly damaging	Het
Pgap1	T	A	1: 54,530,922	N322I	probably benign	Het
Pikfyve	C	T	1: 65,244,426	R741*	probably null	Het
Pip4k2c	A	G	10: 127,208,904	S80P	probably damaging	Het
Plekhh3	A	G	11: 101,166,619	F271L	probably damaging	Het
Prkdc	A	T	16: 15,672,327	Y565F	probably damaging	Het
Prom2	T	C	2: 127,532,781	R612G	probably benign	Het
Psap	T	C	10: 60,299,474	V303A	probably benign	Het
Ptch1	C	T	13: 63,511,714	R1375H	probably benign	Het
Slc24a3	A	C	2: 145,613,530	K446N	probably benign	Het
Slc39a12	T	A	2: 14,494,461	M661K	probably benign	Het
Slc6a16	T	C	7: 45,259,113	L39P	probably benign	Het
Syne1	T	G	10: 5,185,559		probably null	Het
Taar8c	T	C	10: 24,101,866	N16S	probably benign	Het
Tmem98	A	G	11: 80,817,518	T105A	probably damaging	Het
Tmub1	T	A	5: 24,446,013	Y216F	probably damaging	Het
Trim16	T	G	11: 62,820,754	C84G	probably damaging	Het
Ttn	T	A	2: 76,731,229	K28978*	probably null	Het
Usp38	A	G	8: 81,014,246	V64A	probably damaging	Het
Vmn2r63	A	T	7: 42,926,982	F469Y	possibly damaging	Het
Vmn2r74	A	G	7: 85,961,302	W61R	probably benign	Het
Whamm	G	T	7: 81,593,850	G607C	probably damaging	Het
Xkr6	G	T	14: 63,819,161	V430F	probably benign	Het
Zfp398	A	G	6: 47,865,818	D268G	probably benign	Het

Other mutations in Eif2ak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Eif2ak1	APN	5	143889470	missense	probably damaging	0.99
IGL02170:Eif2ak1	APN	5	143879460	missense	probably benign	0.01
IGL02472:Eif2ak1	APN	5	143884883	missense	probably benign	0.00
IGL02898:Eif2ak1	APN	5	143889452	missense	probably damaging	1.00
IGL03078:Eif2ak1	APN	5	143873769	missense	probably benign	0.02
PIT4520001:Eif2ak1	UTSW	5	143899209	nonsense	probably null
R0523:Eif2ak1	UTSW	5	143882166	missense	probably damaging	1.00
R0755:Eif2ak1	UTSW	5	143884924	missense	possibly damaging	0.94
R1128:Eif2ak1	UTSW	5	143899176	unclassified	probably null
R1203:Eif2ak1	UTSW	5	143883979	missense	probably benign	0.00
R1445:Eif2ak1	UTSW	5	143873899	splice site	probably benign
R1474:Eif2ak1	UTSW	5	143871967	missense	probably damaging	1.00
R1972:Eif2ak1	UTSW	5	143884714	missense	probably benign	0.04
R3885:Eif2ak1	UTSW	5	143884661	missense	probably benign	0.21
R3889:Eif2ak1	UTSW	5	143884661	missense	probably benign	0.21
R4754:Eif2ak1	UTSW	5	143901803	missense	probably damaging	0.99
R4971:Eif2ak1	UTSW	5	143882168	missense	probably damaging	1.00
R5007:Eif2ak1	UTSW	5	143873880	missense	probably benign
R5487:Eif2ak1	UTSW	5	143897163	critical splice acceptor site	probably null
R5505:Eif2ak1	UTSW	5	143817990	missense	probably benign
R5808:Eif2ak1	UTSW	5	143883994	missense	probably benign	0.21
R5888:Eif2ak1	UTSW	5	143886915	missense	probably damaging	1.00
R6290:Eif2ak1	UTSW	5	143884799	missense	probably benign	0.34
R6322:Eif2ak1	UTSW	5	143899095	missense	probably benign	0.05
R6475:Eif2ak1	UTSW	5	143818010	unclassified	probably null
R7343:Eif2ak1	UTSW	5	143877671	missense	probably damaging	1.00
R7554:Eif2ak1	UTSW	5	143879478	missense	probably damaging	1.00
R7659:Eif2ak1	UTSW	5	143889462	missense	probably damaging	1.00
X0027:Eif2ak1	UTSW	5	143879435	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTTAGGAGACTTTAGGCAGC -3'
(R):5'- CTGGTTTCCACACATATGCAGATGA -3'

Sequencing Primer
(F):5'- AGACTTTAGGCAGCAGTTAGTC -3'
(R):5'- CTAGGTGACTCTAGATCCTGTCAAG -3'

Posted On

2019-10-17