Incidental Mutation 'R3885:Eif2ak1'
ID |
308708 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif2ak1
|
Ensembl Gene |
ENSMUSG00000029613 |
Gene Name |
eukaryotic translation initiation factor 2 alpha kinase 1 |
Synonyms |
Hri |
MMRRC Submission |
040905-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R3885 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
143803530-143839535 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 143821479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 265
(Q265L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100487]
|
AlphaFold |
Q9Z2R9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100487
AA Change: Q265L
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000098056 Gene: ENSMUSG00000029613 AA Change: Q265L
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
|
Meta Mutation Damage Score |
0.1578 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
95% (40/42) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak8 |
G |
A |
2: 28,623,897 (GRCm39) |
V161I |
possibly damaging |
Het |
Ank3 |
A |
T |
10: 69,734,866 (GRCm39) |
I792F |
probably damaging |
Het |
B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
Boc |
T |
C |
16: 44,307,976 (GRCm39) |
|
probably benign |
Het |
Bptf |
G |
A |
11: 106,965,339 (GRCm39) |
T1170M |
probably damaging |
Het |
Ccdc85a |
T |
A |
11: 28,526,677 (GRCm39) |
E310D |
probably benign |
Het |
Cfap221 |
A |
G |
1: 119,881,876 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
Eif2s1 |
T |
A |
12: 78,927,999 (GRCm39) |
I225N |
probably damaging |
Het |
Ephb2 |
C |
T |
4: 136,498,345 (GRCm39) |
G245S |
probably damaging |
Het |
Exoc4 |
T |
C |
6: 33,243,066 (GRCm39) |
|
probably null |
Het |
Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
Gck |
T |
C |
11: 5,860,318 (GRCm39) |
Y108C |
probably damaging |
Het |
Gjc3 |
T |
A |
5: 137,956,105 (GRCm39) |
N60I |
possibly damaging |
Het |
Gm5145 |
A |
T |
17: 20,791,272 (GRCm39) |
T217S |
probably benign |
Het |
Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
Gpr150 |
T |
C |
13: 76,204,657 (GRCm39) |
Q96R |
probably damaging |
Het |
H2ac22 |
A |
G |
13: 21,971,039 (GRCm39) |
L117P |
probably damaging |
Het |
H2ac8 |
G |
T |
13: 23,755,053 (GRCm39) |
T77K |
possibly damaging |
Het |
Itga2 |
A |
T |
13: 115,005,835 (GRCm39) |
H448Q |
probably benign |
Het |
Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
Lrch2 |
C |
G |
X: 146,256,003 (GRCm39) |
A437P |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,051,967 (GRCm39) |
I262V |
probably damaging |
Het |
Mgst3 |
G |
T |
1: 167,200,131 (GRCm39) |
Q135K |
probably benign |
Het |
Nrxn1 |
T |
A |
17: 90,930,899 (GRCm39) |
T766S |
probably damaging |
Het |
Or11j4 |
A |
T |
14: 50,630,326 (GRCm39) |
I38F |
probably benign |
Het |
Ovch2 |
A |
G |
7: 107,395,775 (GRCm39) |
I81T |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rictor |
A |
T |
15: 6,789,091 (GRCm39) |
N236Y |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
Senp7 |
A |
G |
16: 56,006,442 (GRCm39) |
E922G |
probably damaging |
Het |
Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
Slitrk5 |
T |
A |
14: 111,917,229 (GRCm39) |
C284* |
probably null |
Het |
Steap4 |
G |
T |
5: 8,030,494 (GRCm39) |
R450L |
probably damaging |
Het |
Usp40 |
A |
T |
1: 87,894,991 (GRCm39) |
L843Q |
probably damaging |
Het |
Vmn2r97 |
C |
T |
17: 19,148,596 (GRCm39) |
L164F |
possibly damaging |
Het |
Wiz |
G |
T |
17: 32,576,012 (GRCm39) |
A798E |
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 |
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 |
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'- GAATGCTGCCCAGATTTGAC -3'
(R):5'- GGACGATTCACTTTCACTGC -3'
Sequencing Primer
(F):5'- TTAAGACAGTGTCCCATGTAGCGC -3'
(R):5'- GCTGTTCCTGACCACTAAGTTGG -3'
|
Posted On |
2015-04-17 |