Incidental Mutation 'IGL02472:Eif2ak1'
ID |
294778 |
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 # |
IGL02472
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
143803530-143839535 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143821701 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 339
(H339R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100487]
|
AlphaFold |
Q9Z2R9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100487
AA Change: H339R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000098056 Gene: ENSMUSG00000029613 AA Change: H339R
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
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
A |
G |
15: 76,834,578 (GRCm39) |
N158S |
probably damaging |
Het |
Ankrd17 |
A |
C |
5: 90,412,010 (GRCm39) |
L1285V |
probably damaging |
Het |
Atp8b2 |
G |
A |
3: 89,861,546 (GRCm39) |
T267I |
probably damaging |
Het |
Becn1 |
C |
T |
11: 101,182,224 (GRCm39) |
G115D |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Chd6 |
A |
C |
2: 160,826,372 (GRCm39) |
|
probably benign |
Het |
Col22a1 |
A |
G |
15: 71,699,602 (GRCm39) |
|
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnm2 |
A |
G |
9: 21,397,004 (GRCm39) |
I494V |
possibly damaging |
Het |
Dock2 |
T |
A |
11: 34,199,801 (GRCm39) |
E1416D |
probably benign |
Het |
Espnl |
C |
T |
1: 91,268,256 (GRCm39) |
P294L |
probably benign |
Het |
Ftmt |
T |
A |
18: 52,464,912 (GRCm39) |
I76N |
possibly damaging |
Het |
Gorasp2 |
T |
G |
2: 70,506,803 (GRCm39) |
|
probably benign |
Het |
Hadhb |
T |
A |
5: 30,389,061 (GRCm39) |
M468K |
possibly damaging |
Het |
Hfm1 |
A |
G |
5: 107,021,794 (GRCm39) |
|
probably benign |
Het |
Inpp5j |
T |
C |
11: 3,445,338 (GRCm39) |
|
probably benign |
Het |
Ipo7 |
T |
A |
7: 109,640,060 (GRCm39) |
F288I |
probably damaging |
Het |
Kcnv1 |
T |
A |
15: 44,972,519 (GRCm39) |
K455* |
probably null |
Het |
Kdm5a |
A |
G |
6: 120,383,691 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,747,958 (GRCm39) |
S3122F |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,490,817 (GRCm39) |
I440V |
probably benign |
Het |
Mib2 |
T |
A |
4: 155,741,203 (GRCm39) |
I545F |
probably damaging |
Het |
Nav2 |
C |
T |
7: 49,195,789 (GRCm39) |
P1055L |
probably damaging |
Het |
Or4c10b |
T |
A |
2: 89,711,755 (GRCm39) |
I195N |
probably benign |
Het |
Or5v1b |
C |
A |
17: 37,841,640 (GRCm39) |
F257L |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,609,270 (GRCm39) |
L65Q |
probably damaging |
Het |
Polr1g |
T |
C |
7: 19,093,030 (GRCm39) |
D50G |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,627,623 (GRCm39) |
I396V |
possibly damaging |
Het |
Ryr1 |
A |
T |
7: 28,740,269 (GRCm39) |
N3917K |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,582,658 (GRCm39) |
T80A |
probably damaging |
Het |
Sema3f |
C |
T |
9: 107,564,935 (GRCm39) |
E307K |
probably damaging |
Het |
Serpinb9b |
A |
T |
13: 33,223,953 (GRCm39) |
|
probably benign |
Het |
Siglec15 |
T |
A |
18: 78,086,832 (GRCm39) |
K342N |
possibly damaging |
Het |
Slc2a12 |
T |
C |
10: 22,541,054 (GRCm39) |
F303S |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,400,505 (GRCm39) |
V705A |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,423,383 (GRCm39) |
|
probably benign |
Het |
Tm6sf1 |
A |
T |
7: 81,525,572 (GRCm39) |
|
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,899,119 (GRCm39) |
Y269C |
probably damaging |
Het |
Txndc2 |
A |
G |
17: 65,944,971 (GRCm39) |
I402T |
possibly damaging |
Het |
Ube4b |
A |
G |
4: 149,471,536 (GRCm39) |
|
probably null |
Het |
Usp28 |
T |
A |
9: 48,949,069 (GRCm39) |
Y863N |
possibly damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,058,960 (GRCm39) |
I534V |
probably benign |
Het |
Wdr89 |
A |
T |
12: 75,679,743 (GRCm39) |
D170E |
probably damaging |
Het |
Zfp280d |
C |
A |
9: 72,208,993 (GRCm39) |
N74K |
probably damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
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 |
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 |
2015-04-16 |