Incidental Mutation 'IGL03078:Eif2ak1'
| ID |
417773 |
| 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 # |
IGL03078
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143803530-143839535 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143810587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 99
(I99T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100487]
|
| AlphaFold |
Q9Z2R9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100487
AA Change: I99T
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613
AA Change: I99T
| 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 |
noncoding transcript
Transcript: ENSMUST00000140013
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154767
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,167,371 (GRCm39) |
K1482* |
probably null |
Het |
| Abtb3 |
C |
T |
10: 85,468,027 (GRCm39) |
A774V |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,253,244 (GRCm39) |
|
probably benign |
Het |
| Adamdec1 |
C |
T |
14: 68,806,299 (GRCm39) |
R392H |
possibly damaging |
Het |
| Anxa7 |
T |
C |
14: 20,506,624 (GRCm39) |
K439E |
probably damaging |
Het |
| Arap2 |
T |
A |
5: 62,890,408 (GRCm39) |
|
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,921,735 (GRCm39) |
E367G |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,291,905 (GRCm39) |
T3307A |
possibly damaging |
Het |
| Dnd1 |
T |
C |
18: 36,899,197 (GRCm39) |
E8G |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,783,994 (GRCm39) |
R833C |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,849,019 (GRCm39) |
S362P |
probably damaging |
Het |
| Hs3st4 |
A |
G |
7: 123,996,669 (GRCm39) |
E445G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,117,108 (GRCm39) |
T21A |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,698,291 (GRCm39) |
R594H |
probably damaging |
Het |
| Lsm14b |
T |
C |
2: 179,668,521 (GRCm39) |
I74T |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,081,256 (GRCm39) |
S1291T |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,117,335 (GRCm39) |
F923I |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,969,624 (GRCm39) |
|
probably null |
Het |
| Or51f1d |
T |
C |
7: 102,701,036 (GRCm39) |
F177S |
probably damaging |
Het |
| Or8b53 |
C |
T |
9: 38,667,541 (GRCm39) |
Q186* |
probably null |
Het |
| Piezo2 |
A |
C |
18: 63,203,146 (GRCm39) |
M1484R |
probably damaging |
Het |
| Rhoh |
T |
A |
5: 66,050,231 (GRCm39) |
V167D |
probably damaging |
Het |
| Rspo3 |
T |
C |
10: 29,380,657 (GRCm39) |
Y119C |
probably damaging |
Het |
| Scpep1 |
T |
A |
11: 88,826,657 (GRCm39) |
I260F |
possibly damaging |
Het |
| Slc15a3 |
T |
A |
19: 10,834,609 (GRCm39) |
F497I |
probably damaging |
Het |
| Stom |
T |
C |
2: 35,205,941 (GRCm39) |
K263E |
probably damaging |
Het |
| Taf4b |
C |
A |
18: 14,946,611 (GRCm39) |
A478E |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,600,594 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
C |
T |
5: 149,535,062 (GRCm39) |
A598V |
possibly 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 |
|
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 |
2016-08-02 |
Incidental Mutation