Incidental Mutation 'R6417:Eif2ak2'
| ID |
518132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2ak2
|
| Ensembl Gene |
ENSMUSG00000024079 |
| Gene Name |
eukaryotic translation initiation factor 2-alpha kinase 2 |
| Synonyms |
Pkr, 2310047A08Rik, IFN-induced and double-stranded RNA-activated kinase, 4732414G15Rik, dsRNA-activated kinase, eIF-2 alpha, Prkr, Tik, eIF-2 alpha, IFN- type I-induced and dsRNA-activated kinase |
| MMRRC Submission |
044559-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6417 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
79159993-79190002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 79164048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 439
(L439R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024884]
|
| AlphaFold |
Q03963 |
| PDB Structure |
Solution structure of the second DSRM domain in Interferon-induced, double-stranded RNA-activated protein kinase [SOLUTION NMR]
Solution structure of the first DSRM domain in Interferon-induced, double-stranded RNA-activated protein kinase [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024884
AA Change: L439R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024884
Gene: ENSMUSG00000024079
AA Change: L439R
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
9 |
75 |
2.34e-20 |
SMART |
|
DSRM
|
96 |
161 |
7.66e-16 |
SMART |
|
low complexity region
|
169 |
196 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
242 |
500 |
4.6e-56 |
PFAM |
|
Pfam:Pkinase_Tyr
|
242 |
500 |
8e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169940
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.8%
|
| Validation Efficiency |
97% (30/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display altered susceptibility to viral infection. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted, knock-out(2) Gene trapped(5) |
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,996,351 (GRCm39) |
K1426E |
possibly damaging |
Het |
| Abra |
C |
T |
15: 41,729,452 (GRCm39) |
R316H |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,070 (GRCm39) |
T729S |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,579,269 (GRCm39) |
S560P |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,693,574 (GRCm39) |
V111I |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,696,549 (GRCm39) |
R2446C |
probably benign |
Het |
| Map3k10 |
A |
G |
7: 27,362,709 (GRCm39) |
F459S |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,048,054 (GRCm39) |
D914G |
probably damaging |
Het |
| Or4d10 |
T |
G |
19: 12,051,324 (GRCm39) |
K224T |
probably benign |
Het |
| Or5b24 |
A |
C |
19: 12,912,584 (GRCm39) |
T161P |
probably damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,890 (GRCm39) |
S253T |
probably benign |
Het |
| Or8b41 |
T |
G |
9: 38,054,611 (GRCm39) |
L55R |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,510 (GRCm39) |
C97* |
probably null |
Het |
| Pkd1l2 |
C |
T |
8: 117,740,638 (GRCm39) |
C2153Y |
probably damaging |
Het |
| Plk5 |
T |
C |
10: 80,199,906 (GRCm39) |
V471A |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,103,542 (GRCm39) |
I1906T |
probably damaging |
Het |
| Slc16a12 |
T |
C |
19: 34,650,097 (GRCm39) |
|
probably null |
Het |
| Slc25a23 |
T |
C |
17: 57,359,780 (GRCm39) |
I324V |
probably damaging |
Het |
| Sord |
A |
T |
2: 122,094,602 (GRCm39) |
K330M |
possibly damaging |
Het |
| Srp54b |
T |
A |
12: 55,296,855 (GRCm39) |
F184L |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcte1 |
A |
G |
17: 45,846,056 (GRCm39) |
E220G |
probably damaging |
Het |
| Tfrc |
C |
T |
16: 32,449,057 (GRCm39) |
T732I |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,297 (GRCm39) |
T696A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,542,619 (GRCm39) |
Y33456H |
possibly damaging |
Het |
| Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,773,938 (GRCm39) |
R1490W |
probably damaging |
Het |
| Wdr64 |
A |
T |
1: 175,553,956 (GRCm39) |
D162V |
probably damaging |
Het |
| Zfp959 |
G |
A |
17: 56,205,094 (GRCm39) |
G377D |
probably damaging |
Het |
| Zswim3 |
G |
A |
2: 164,662,653 (GRCm39) |
V378M |
probably damaging |
Het |
|
| Other mutations in Eif2ak2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00569:Eif2ak2
|
APN |
17 |
79,176,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01017:Eif2ak2
|
APN |
17 |
79,171,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01068:Eif2ak2
|
APN |
17 |
79,172,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Eif2ak2
|
UTSW |
17 |
79,176,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0038:Eif2ak2
|
UTSW |
17 |
79,171,384 (GRCm39) |
missense |
probably benign |
|
|
R0801:Eif2ak2
|
UTSW |
17 |
79,173,778 (GRCm39) |
nonsense |
probably null |
|
|
R1702:Eif2ak2
|
UTSW |
17 |
79,164,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Eif2ak2
|
UTSW |
17 |
79,171,392 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2159:Eif2ak2
|
UTSW |
17 |
79,181,447 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3405:Eif2ak2
|
UTSW |
17 |
79,166,068 (GRCm39) |
splice site |
probably benign |
|
|
R3406:Eif2ak2
|
UTSW |
17 |
79,166,068 (GRCm39) |
splice site |
probably benign |
|
|
R4355:Eif2ak2
|
UTSW |
17 |
79,165,963 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5135:Eif2ak2
|
UTSW |
17 |
79,173,774 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5145:Eif2ak2
|
UTSW |
17 |
79,183,633 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5336:Eif2ak2
|
UTSW |
17 |
79,181,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6195:Eif2ak2
|
UTSW |
17 |
79,178,662 (GRCm39) |
nonsense |
probably null |
|
|
R6233:Eif2ak2
|
UTSW |
17 |
79,178,662 (GRCm39) |
nonsense |
probably null |
|
|
R6737:Eif2ak2
|
UTSW |
17 |
79,171,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7108:Eif2ak2
|
UTSW |
17 |
79,165,965 (GRCm39) |
nonsense |
probably null |
|
|
R7238:Eif2ak2
|
UTSW |
17 |
79,173,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7830:Eif2ak2
|
UTSW |
17 |
79,173,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Eif2ak2
|
UTSW |
17 |
79,176,203 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7845:Eif2ak2
|
UTSW |
17 |
79,171,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8003:Eif2ak2
|
UTSW |
17 |
79,183,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8143:Eif2ak2
|
UTSW |
17 |
79,165,961 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9658:Eif2ak2
|
UTSW |
17 |
79,183,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9719:Eif2ak2
|
UTSW |
17 |
79,162,783 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTTCACTTACAACCAGAAGCC -3'
(R):5'- TGCCCAACTTCATGAGATCCAG -3'
Sequencing Primer
(F):5'- GAAGCCAATGTGGTCCCAC -3'
(R):5'- TCTGAGGCTCAACTAAGCAGTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation