Incidental Mutation 'R5487:Eif2ak1'
ID |
501058 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif2ak1
|
Ensembl Gene |
ENSMUSG00000029613 |
Gene Name |
eukaryotic translation initiation factor 2 alpha kinase 1 |
Synonyms |
Hri |
MMRRC Submission |
043048-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R5487 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
143803530-143839535 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 143833981 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079624]
[ENSMUST00000100487]
[ENSMUST00000100487]
[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 null
Transcript: ENSMUST00000100487
|
SMART Domains |
Protein: ENSMUSP00000098056 Gene: ENSMUSG00000029613
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 null
Transcript: ENSMUST00000100487
|
SMART Domains |
Protein: ENSMUSP00000098056 Gene: ENSMUSG00000029613
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 null
Transcript: ENSMUST00000100487
|
SMART Domains |
Protein: ENSMUSP00000098056 Gene: ENSMUSG00000029613
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: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,844,340 (GRCm39) |
V959A |
probably damaging |
Het |
Alg3 |
A |
T |
16: 20,426,530 (GRCm39) |
I115N |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,888,733 (GRCm39) |
D204G |
probably benign |
Het |
Camta1 |
C |
A |
4: 151,229,211 (GRCm39) |
E540D |
possibly damaging |
Het |
Cblc |
T |
C |
7: 19,518,733 (GRCm39) |
T413A |
probably benign |
Het |
Ccdc122 |
T |
A |
14: 77,329,119 (GRCm39) |
H57Q |
probably benign |
Het |
Ccdc85a |
A |
T |
11: 28,526,768 (GRCm39) |
L280* |
probably null |
Het |
Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
Dnaaf3 |
T |
C |
7: 4,526,864 (GRCm39) |
|
probably null |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Ecpas |
T |
C |
4: 58,809,421 (GRCm39) |
D1651G |
probably benign |
Het |
Erich4 |
A |
G |
7: 25,314,664 (GRCm39) |
M83T |
probably benign |
Het |
Fbxo24 |
C |
T |
5: 137,617,094 (GRCm39) |
G331E |
possibly damaging |
Het |
Fzd4 |
A |
G |
7: 89,056,615 (GRCm39) |
I221V |
probably benign |
Het |
G6pc2 |
T |
C |
2: 69,056,921 (GRCm39) |
V189A |
probably damaging |
Het |
Gm10663 |
A |
C |
8: 65,527,686 (GRCm39) |
E1A |
probably null |
Het |
Gm4871 |
C |
A |
5: 144,967,199 (GRCm39) |
E178D |
probably damaging |
Het |
Igdcc3 |
A |
G |
9: 65,088,866 (GRCm39) |
E415G |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,733,272 (GRCm39) |
|
probably benign |
Het |
Krba1 |
T |
C |
6: 48,380,973 (GRCm39) |
V103A |
probably damaging |
Het |
Lcat |
T |
C |
8: 106,666,296 (GRCm39) |
K409E |
probably benign |
Het |
Lrriq4 |
C |
A |
3: 30,714,144 (GRCm39) |
N497K |
probably benign |
Het |
Mical2 |
A |
G |
7: 111,919,842 (GRCm39) |
T451A |
probably damaging |
Het |
Noxo1 |
C |
T |
17: 24,917,291 (GRCm39) |
|
probably benign |
Het |
Oas1a |
A |
G |
5: 121,045,490 (GRCm39) |
I17T |
probably damaging |
Het |
Otog |
A |
T |
7: 45,938,192 (GRCm39) |
Y1967F |
probably benign |
Het |
Pcdha9 |
A |
T |
18: 37,132,703 (GRCm39) |
N591Y |
probably damaging |
Het |
Plxna4 |
A |
G |
6: 32,494,218 (GRCm39) |
Y133H |
probably damaging |
Het |
Pou5f2 |
T |
C |
13: 78,173,118 (GRCm39) |
L20P |
probably benign |
Het |
Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
Sema3b |
A |
T |
9: 107,478,161 (GRCm39) |
M408K |
probably damaging |
Het |
Serpinf2 |
G |
A |
11: 75,324,031 (GRCm39) |
T332I |
probably damaging |
Het |
Tmbim1 |
A |
G |
1: 74,332,164 (GRCm39) |
V121A |
probably benign |
Het |
Tph2 |
C |
T |
10: 114,955,779 (GRCm39) |
G338D |
probably damaging |
Het |
Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
T |
2: 76,642,896 (GRCm39) |
V13247M |
probably damaging |
Het |
Uty |
C |
T |
Y: 1,174,825 (GRCm39) |
G192R |
probably damaging |
Het |
Vmn2r65 |
G |
T |
7: 84,595,529 (GRCm39) |
P385Q |
possibly damaging |
Het |
Wdfy3 |
G |
A |
5: 101,984,140 (GRCm39) |
R3489W |
probably damaging |
Het |
Zfp750 |
A |
G |
11: 121,404,558 (GRCm39) |
S106P |
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 |
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 |
|
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'- AAAACGTTCCTCAGCGGCC -3'
(R):5'- AGGACATGTTCAACTAGGTCTCTTTT -3'
Sequencing Primer
(F):5'- AGGCCTTGATAACCTTGGAC -3'
(R):5'- TCTGGATGATGTCTGCAC -3'
|
Posted On |
2017-12-01 |