Incidental Mutation 'IGL02898:Eif2ak1'
| ID |
363487 |
| 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)
|
| Stock # |
IGL02898
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143803530-143839535 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 143826270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 428
(V428I)
|
| 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: V428I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613
AA Change: V428I
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,178,065 (GRCm39) |
|
probably benign |
Het |
| Brd3 |
A |
G |
2: 27,349,753 (GRCm39) |
S267P |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,946,468 (GRCm39) |
T425A |
probably benign |
Het |
| Caskin1 |
A |
T |
17: 24,721,383 (GRCm39) |
E544D |
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,630,905 (GRCm39) |
Q58* |
probably null |
Het |
| Fez2 |
A |
G |
17: 78,692,184 (GRCm39) |
I345T |
probably benign |
Het |
| Focad |
A |
T |
4: 88,310,234 (GRCm39) |
M1388L |
probably benign |
Het |
| Gfer |
T |
C |
17: 24,914,921 (GRCm39) |
R41G |
probably benign |
Het |
| Gm9956 |
C |
T |
10: 56,621,350 (GRCm39) |
S4L |
unknown |
Het |
| Krtap6-1 |
G |
A |
16: 88,828,643 (GRCm39) |
G13D |
unknown |
Het |
| Megf8 |
A |
G |
7: 25,045,933 (GRCm39) |
E1492G |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,221,197 (GRCm39) |
I909V |
probably damaging |
Het |
| Or11g25 |
T |
A |
14: 50,723,643 (GRCm39) |
S243T |
probably damaging |
Het |
| Or1e21 |
T |
A |
11: 73,344,561 (GRCm39) |
H159L |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,959,562 (GRCm39) |
E717G |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,527,605 (GRCm39) |
I319M |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,617,583 (GRCm39) |
|
probably benign |
Het |
| Plekho1 |
T |
A |
3: 95,899,493 (GRCm39) |
H100L |
probably damaging |
Het |
| Prr30 |
T |
G |
14: 101,435,917 (GRCm39) |
D215A |
probably benign |
Het |
| Prss52 |
C |
T |
14: 64,351,115 (GRCm39) |
A300V |
possibly damaging |
Het |
| Ralgps2 |
C |
A |
1: 156,645,314 (GRCm39) |
K514N |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,472 (GRCm39) |
I463T |
probably damaging |
Het |
| Sars1 |
A |
T |
3: 108,336,579 (GRCm39) |
F268Y |
probably damaging |
Het |
| Sidt1 |
C |
T |
16: 44,102,858 (GRCm39) |
R289Q |
possibly damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,940,023 (GRCm39) |
Y140F |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,956,805 (GRCm39) |
V539A |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,058,676 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,008,702 (GRCm39) |
D1944G |
probably benign |
Het |
| Spata1 |
C |
T |
3: 146,181,094 (GRCm39) |
R288Q |
possibly damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,778,507 (GRCm39) |
*233W |
probably null |
Het |
| Ttc3 |
T |
A |
16: 94,220,285 (GRCm39) |
V536E |
probably damaging |
Het |
| V1rd19 |
A |
C |
7: 23,702,854 (GRCm39) |
T107P |
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 |
|
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 |
2015-12-18 |
Incidental Mutation