Incidental Mutation 'R1128:Eif2ak1'
| ID |
96387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2ak1
|
| Ensembl Gene |
ENSMUSG00000029613 |
| Gene Name |
eukaryotic translation initiation factor 2 alpha kinase 1 |
| Synonyms |
Hri |
| MMRRC Submission |
039201-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R1128 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
143803530-143839535 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 143835994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031613]
[ENSMUST00000079624]
[ENSMUST00000100483]
[ENSMUST00000100487]
[ENSMUST00000110717]
[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 null
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 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: G562W
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613
AA Change: G562W
| 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: 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 null
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: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Amhr2 |
A |
T |
15: 102,361,256 (GRCm39) |
Q402L |
probably benign |
Het |
| Brip1 |
A |
T |
11: 85,955,763 (GRCm39) |
L917M |
possibly damaging |
Het |
| Dennd5a |
G |
A |
7: 109,520,541 (GRCm39) |
R415* |
probably null |
Het |
| Golga4 |
G |
A |
9: 118,377,852 (GRCm39) |
A458T |
probably benign |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Ift88 |
C |
T |
14: 57,754,476 (GRCm39) |
R762* |
probably null |
Het |
| Kansl2 |
A |
T |
15: 98,431,566 (GRCm39) |
C28* |
probably null |
Het |
| Lct |
T |
C |
1: 128,229,046 (GRCm39) |
R816G |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,919,769 (GRCm39) |
N6809S |
probably null |
Het |
| Pak6 |
A |
G |
2: 118,526,990 (GRCm39) |
T662A |
probably benign |
Het |
| Pglyrp3 |
T |
C |
3: 91,935,479 (GRCm39) |
F243S |
probably benign |
Het |
| Rab44 |
T |
C |
17: 29,359,435 (GRCm39) |
V541A |
possibly damaging |
Het |
| Slc39a6 |
G |
T |
18: 24,718,349 (GRCm39) |
H569Q |
probably damaging |
Het |
| Slc4a7 |
T |
C |
14: 14,733,832 (GRCm38) |
S87P |
probably damaging |
Het |
| Spocd1 |
T |
C |
4: 129,850,599 (GRCm39) |
V875A |
possibly damaging |
Het |
| Tspan17 |
A |
G |
13: 54,942,984 (GRCm39) |
D146G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCTCTGGGTATCAAAGGGATG -3'
(R):5'- AGTTCAAGTCTGCAATCCCAGCAC -3'
Sequencing Primer
(F):5'- GAGACTGTACTGTTAGACATGCCC -3'
(R):5'- attaataaaaCTATCATCGGGGTGGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation