Mutagenetix > Incidental Mutation

Incidental Mutation 'R5888:Eif2ak1'

457789

Institutional Source

Beutler Lab

Gene Symbol

Eif2ak1

Ensembl Gene

ENSMUSG00000029613

Gene Name

eukaryotic translation initiation factor 2 alpha kinase 1

Synonyms

Hri

MMRRC Submission

044089-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R5888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143817788-143904251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143886915 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 393 (I393M)

Ref Sequence

ENSEMBL: ENSMUSP00000098056 (fasta)

Gene Model

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

AlphaFold

Q9Z2R9

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: I393M

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

SMART Domains

Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613
AA Change: I393M

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

Meta Mutation Damage Score

0.2386

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

94% (96/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	C	15: 81,980,671	S38P	probably benign	Het
Adcy1	T	A	11: 7,139,095	V503E	possibly damaging	Het
Alk	C	A	17: 71,874,943	V1362L	probably damaging	Het
Ankrd55	T	A	13: 112,355,919	I208N	possibly damaging	Het
Asap2	T	A	12: 21,218,190	I319N	probably damaging	Het
Atp11b	T	C	3: 35,837,547	I1036T	probably benign	Het
B4gat1	T	C	19: 5,039,532	F186L	probably benign	Het
C3	T	A	17: 57,214,831	T1079S	probably damaging	Het
Cacul1	G	T	19: 60,537,464	T287K	possibly damaging	Het
Cbr3	G	C	16: 93,690,726	G266R	probably damaging	Het
Cd63	T	A	10: 128,912,291		probably null	Het
Chd7	G	A	4: 8,866,382	M851I	probably damaging	Het
Chst13	T	A	6: 90,309,572	H136L	probably benign	Het
Cyp2d22	T	C	15: 82,373,813	T179A	probably benign	Het
Dclre1b	A	T	3: 103,803,737	V286E	probably damaging	Het
Defb45	G	A	2: 152,593,234		probably benign	Het
Dlg1	T	C	16: 31,791,886		probably null	Het
Dock3	A	G	9: 107,023,803	V321A	probably benign	Het
Dytn	A	T	1: 63,677,237	V59E	possibly damaging	Het
Fam83g	A	T	11: 61,702,594	E318V	probably benign	Het
Fbxo34	T	A	14: 47,529,719	F179I	probably damaging	Het
Fmo5	T	A	3: 97,641,725	Y230N	probably benign	Het
Fzd9	T	G	5: 135,249,463		probably null	Het
Gata2	T	C	6: 88,200,740	S251P	probably benign	Het
Gigyf1	A	G	5: 137,525,697	D1043G	probably damaging	Het
Gm10260	G	A	13: 97,760,393	R66*	probably null	Het
Gm10322	T	A	10: 59,616,303	S81T	probably benign	Het
Gm11639	T	C	11: 104,721,401		probably benign	Het
Gm15517	A	T	7: 44,260,642		probably benign	Het
Haus4	T	C	14: 54,544,219	T232A	probably benign	Het
Hgfac	A	T	5: 35,045,407	H417L	probably damaging	Het
Iqgap2	T	C	13: 95,635,610	K1354E	possibly damaging	Het
Kcnk12	C	A	17: 87,746,649	R195L	probably benign	Het
Kcnn2	A	T	18: 45,592,345	I303F	probably damaging	Het
Kcnt1	T	C	2: 25,908,110	F879S	probably damaging	Het
Kndc1	T	C	7: 139,895,217	F11L	probably benign	Het
Kpna7	A	G	5: 144,989,795	F449S	probably damaging	Het
Krt77	G	T	15: 101,865,453	N255K	probably benign	Het
Lair1	A	T	7: 4,010,845	D134E	probably damaging	Het
Loxhd1	T	C	18: 77,402,515	V1318A	probably damaging	Het
March10	A	T	11: 105,402,146	V145D	possibly damaging	Het
Mcpt1	T	A	14: 56,019,512	M169K	probably benign	Het
Mdc1	T	A	17: 35,847,820	V364E	probably benign	Het
Mfsd11	T	C	11: 116,871,384	F270S	probably damaging	Het
Mfsd4b2	T	G	10: 39,922,035	D108A	probably benign	Het
Mink1	A	T	11: 70,610,059		probably benign	Het
Mmp25	T	C	17: 23,631,074	Y504C	probably damaging	Het
Ms4a13	C	T	19: 11,191,506	V52I	probably benign	Het
Msh4	C	T	3: 153,867,723		probably null	Het
Muc5b	T	G	7: 141,858,421	S1701R	unknown	Het
Naalad2	A	T	9: 18,330,641	S656T	probably benign	Het
Ncapd2	T	C	6: 125,187,089	Y64C	probably damaging	Het
Ncapg2	T	A	12: 116,425,800	S347T	possibly damaging	Het
Nipal4	T	C	11: 46,151,339	T172A	probably damaging	Het
Nrros	T	C	16: 32,143,087	K652R	probably benign	Het
Nrxn3	G	T	12: 89,512,085	A983S	possibly damaging	Het
Olfr1084	A	C	2: 86,639,144	L188R	probably damaging	Het
Olfr1187-ps1	T	C	2: 88,540,244		noncoding transcript	Het
Olfr1220	T	A	2: 89,097,925	M1L	probably damaging	Het
Olfr1249	T	A	2: 89,630,799	Y33F	probably damaging	Het
Olfr1283	T	C	2: 111,368,743	M37T	probably benign	Het
Olfr631	A	G	7: 103,929,032	T70A	possibly damaging	Het
Olfr938	A	T	9: 39,077,967	Y259*	probably null	Het
P2rx4	T	A	5: 122,719,165	S155T	probably benign	Het
P2rx4	T	G	5: 122,727,208	Y299D	probably damaging	Het
Pcsk6	A	T	7: 66,043,624	L7F	probably null	Het
Pdss2	T	C	10: 43,221,797		silent	Het
Pfkl	A	G	10: 77,991,370	V494A	possibly damaging	Het
Prep	G	T	10: 45,067,364	D12Y	possibly damaging	Het
Prg4	A	G	1: 150,452,350	F188S	probably damaging	Het
Ripor3	T	C	2: 167,997,287	Y98C	probably damaging	Het
Rnf216	T	A	5: 143,068,314		probably null	Het
Rnf24	A	G	2: 131,322,245		probably benign	Het
Scn3a	A	G	2: 65,497,398	M916T	probably benign	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Sh2b3	C	G	5: 121,829,021	R10P	possibly damaging	Het
Slc25a27	T	C	17: 43,649,694	D211G	probably damaging	Het
Slc36a4	A	T	9: 15,727,028	Y250F	probably damaging	Het
Slc4a1	T	A	11: 102,356,525	E448V	probably damaging	Het
Slit1	C	A	19: 41,743,296	C38F	probably damaging	Het
Spock3	T	A	8: 63,355,300	N410K	unknown	Het
Supt20	G	T	3: 54,712,207	W370L	probably benign	Het
Tas2r139	T	A	6: 42,141,496	N187K	probably damaging	Het
Tbc1d9b	G	A	11: 50,140,484	V111I	probably benign	Het
Thsd7b	T	A	1: 130,210,320	Y1578*	probably null	Het
Tln2	T	A	9: 67,229,403	I1267F	probably damaging	Het
Tnk2	G	A	16: 32,671,367	V363I	probably damaging	Het
Ttc32	A	G	12: 9,035,870	K139R	possibly damaging	Het
Vmn1r30	G	C	6: 58,435,565	T94S	possibly damaging	Het
Vmn1r90	G	A	7: 14,561,855	T106I	probably damaging	Het
Zfp677	T	A	17: 21,398,258	C526S	probably damaging	Het
Zfp831	T	G	2: 174,643,627	S32A	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	splice site	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
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	splice site	probably null
R7343:Eif2ak1	UTSW	5	143877671	missense	probably damaging	1.00
R7525:Eif2ak1	UTSW	5	143886898	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
R8341:Eif2ak1	UTSW	5	143884937	missense	probably benign	0.34
R8537:Eif2ak1	UTSW	5	143899069	missense	probably damaging	1.00
R8808:Eif2ak1	UTSW	5	143879446	missense	probably damaging	1.00
R9062:Eif2ak1	UTSW	5	143817793	start gained	probably benign
R9748:Eif2ak1	UTSW	5	143882213	missense	probably damaging	0.99
X0027:Eif2ak1	UTSW	5	143879435	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAGCAGTTAGTCATGGTGTC -3'
(R):5'- TGCAGATGAGCACATACCCAC -3'

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

Posted On

2017-02-15