Incidental Mutation 'R0024:Eif2ak3'
| ID |
18693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2ak3
|
| Ensembl Gene |
ENSMUSG00000031668 |
| Gene Name |
eukaryotic translation initiation factor 2 alpha kinase 3 |
| Synonyms |
PERK |
| MMRRC Submission |
038319-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.680)
|
| Stock # |
R0024 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
70821499-70882229 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70869340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 676
(T676A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034093]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034093
AA Change: T676A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000034093
Gene: ENSMUSG00000031668
AA Change: T676A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
589 |
662 |
1.6e-6 |
PFAM |
|
Pfam:Pkinase
|
589 |
673 |
3.2e-12 |
PFAM |
|
Pfam:Pkinase
|
839 |
1075 |
1.9e-38 |
PFAM |
|
Pfam:Pkinase_Tyr
|
859 |
1073 |
5.8e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159401
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161316
|
| Meta Mutation Damage Score |
0.0892 |
| Coding Region Coverage |
- 1x: 79.2%
- 3x: 69.7%
- 10x: 44.0%
- 20x: 23.5%
|
| Validation Efficiency |
95% (75/79) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in a similar gene in human are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutant mice develop exocrine pancreatic insufficiency and progressive diabetes mellitus. They are growth retarded, hyperglycemic, exhibit increased cell death in the pancreas, have decreased numbers of pancreatic beta cells and about half diebefore weaning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
C |
8: 84,454,913 (GRCm39) |
T260A |
probably damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,580,001 (GRCm39) |
T2067M |
probably damaging |
Het |
| Akip1 |
T |
C |
7: 109,303,345 (GRCm39) |
S63P |
probably benign |
Het |
| Ankrd34c |
G |
A |
9: 89,611,580 (GRCm39) |
P254S |
possibly damaging |
Het |
| Aqp8 |
T |
C |
7: 123,066,663 (GRCm39) |
I256T |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,933,334 (GRCm39) |
V308A |
probably benign |
Het |
| Astn1 |
G |
A |
1: 158,511,785 (GRCm39) |
S1209N |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,576,818 (GRCm39) |
|
probably benign |
Het |
| Bbx |
T |
A |
16: 50,045,281 (GRCm39) |
M427L |
probably benign |
Het |
| Cadm4 |
T |
C |
7: 24,202,169 (GRCm39) |
L336P |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,372 (GRCm39) |
M281V |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,123,866 (GRCm39) |
H1131R |
probably damaging |
Het |
| Dll3 |
A |
G |
7: 27,999,586 (GRCm39) |
|
probably benign |
Het |
| Dscam |
G |
A |
16: 96,394,585 (GRCm39) |
R1906* |
probably null |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Entpd5 |
T |
C |
12: 84,420,507 (GRCm39) |
M428T |
probably benign |
Het |
| Fry |
T |
G |
5: 150,304,268 (GRCm39) |
S553A |
probably benign |
Het |
| Gls2 |
G |
A |
10: 128,035,125 (GRCm39) |
R86H |
probably damaging |
Het |
| Gm14340 |
T |
A |
2: 180,466,043 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9457 |
A |
C |
8: 4,863,131 (GRCm39) |
|
noncoding transcript |
Het |
| Hfm1 |
T |
C |
5: 107,004,790 (GRCm39) |
K1179E |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,401,687 (GRCm39) |
T473A |
probably benign |
Het |
| Krt34 |
A |
T |
11: 99,931,863 (GRCm39) |
C119S |
probably benign |
Het |
| Krt6a |
A |
G |
15: 101,599,150 (GRCm39) |
|
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,875,828 (GRCm39) |
T164A |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,955,109 (GRCm39) |
Y701N |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,133,399 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
A |
G |
2: 135,204,345 (GRCm39) |
S900G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,326,303 (GRCm39) |
I79N |
possibly damaging |
Het |
| Prpf31 |
C |
A |
7: 3,639,658 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rsc1a1 |
T |
C |
4: 141,412,583 (GRCm39) |
K110E |
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,025,537 (GRCm39) |
|
probably benign |
Het |
| Slc24a2 |
T |
C |
4: 86,946,477 (GRCm39) |
|
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,688,956 (GRCm39) |
|
probably benign |
Het |
| Sugct |
G |
A |
13: 17,032,454 (GRCm39) |
H433Y |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,295,264 (GRCm39) |
I310M |
probably damaging |
Het |
| Tpm3 |
C |
A |
3: 89,994,756 (GRCm39) |
|
probably null |
Het |
| Ttc27 |
T |
C |
17: 75,077,259 (GRCm39) |
F385L |
possibly damaging |
Het |
| Utrn |
A |
G |
10: 12,281,755 (GRCm39) |
V3301A |
probably benign |
Het |
|
| Other mutations in Eif2ak3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01386:Eif2ak3
|
APN |
6 |
70,869,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02069:Eif2ak3
|
APN |
6 |
70,873,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02197:Eif2ak3
|
APN |
6 |
70,878,441 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL03150:Eif2ak3
|
APN |
6 |
70,869,420 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0130:Eif2ak3
|
UTSW |
6 |
70,858,716 (GRCm39) |
splice site |
probably benign |
|
|
R0394:Eif2ak3
|
UTSW |
6 |
70,862,202 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0699:Eif2ak3
|
UTSW |
6 |
70,869,514 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1648:Eif2ak3
|
UTSW |
6 |
70,860,615 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1708:Eif2ak3
|
UTSW |
6 |
70,864,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1953:Eif2ak3
|
UTSW |
6 |
70,869,538 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2062:Eif2ak3
|
UTSW |
6 |
70,881,181 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2875:Eif2ak3
|
UTSW |
6 |
70,860,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4260:Eif2ak3
|
UTSW |
6 |
70,866,497 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4357:Eif2ak3
|
UTSW |
6 |
70,861,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4786:Eif2ak3
|
UTSW |
6 |
70,869,602 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4801:Eif2ak3
|
UTSW |
6 |
70,864,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4802:Eif2ak3
|
UTSW |
6 |
70,864,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5194:Eif2ak3
|
UTSW |
6 |
70,835,462 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5260:Eif2ak3
|
UTSW |
6 |
70,870,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5710:Eif2ak3
|
UTSW |
6 |
70,860,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5724:Eif2ak3
|
UTSW |
6 |
70,853,824 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6089:Eif2ak3
|
UTSW |
6 |
70,873,918 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6656:Eif2ak3
|
UTSW |
6 |
70,860,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6940:Eif2ak3
|
UTSW |
6 |
70,869,386 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6949:Eif2ak3
|
UTSW |
6 |
70,855,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6958:Eif2ak3
|
UTSW |
6 |
70,869,667 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7168:Eif2ak3
|
UTSW |
6 |
70,858,610 (GRCm39) |
missense |
probably benign |
|
|
R7627:Eif2ak3
|
UTSW |
6 |
70,869,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8322:Eif2ak3
|
UTSW |
6 |
70,855,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Eif2ak3
|
UTSW |
6 |
70,858,535 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8729:Eif2ak3
|
UTSW |
6 |
70,821,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8924:Eif2ak3
|
UTSW |
6 |
70,870,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Eif2ak3
|
UTSW |
6 |
70,860,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9156:Eif2ak3
|
UTSW |
6 |
70,860,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9171:Eif2ak3
|
UTSW |
6 |
70,835,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Eif2ak3
|
UTSW |
6 |
70,841,511 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-03-25 |
Incidental Mutation