Incidental Mutation 'PIT4520001:Eif2ak1'
| ID |
555173 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4520001 (G1)
|
| Quality Score |
144.008 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
143803530-143839535 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 143836027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 573
(Q573*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031613]
[ENSMUST00000079624]
[ENSMUST00000100483]
[ENSMUST00000100487]
[ENSMUST00000110717]
[ENSMUST00000110718]
|
| AlphaFold |
Q9Z2R9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031613
|
| SMART Domains |
Protein: ENSMUSP00000031613
Gene: ENSMUSG00000029610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIMP2_LysRS_bd
|
1 |
44 |
8.3e-26 |
PFAM |
|
low complexity region
|
133 |
142 |
N/A |
INTRINSIC |
|
Pfam:GST_C_3
|
231 |
308 |
2.5e-10 |
PFAM |
|
Pfam:GST_C
|
242 |
310 |
5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079624
|
| SMART Domains |
Protein: ENSMUSP00000078571
Gene: ENSMUSG00000029607
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
36 |
61 |
2.55e2 |
SMART |
|
ANK
|
65 |
118 |
8.5e2 |
SMART |
|
ANK
|
124 |
153 |
1.27e-2 |
SMART |
|
ANK
|
157 |
186 |
7.95e-4 |
SMART |
|
ANK
|
191 |
230 |
3.74e0 |
SMART |
|
ANK
|
234 |
263 |
3.46e-4 |
SMART |
|
Blast:ANK
|
267 |
300 |
4e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100483
|
| SMART Domains |
Protein: ENSMUSP00000098052
Gene: ENSMUSG00000029610
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
102 |
N/A |
INTRINSIC |
|
Pfam:GST_C_3
|
185 |
268 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100487
AA Change: Q573*
|
| SMART Domains |
Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613
AA Change: Q573*
| 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 |
probably benign
Transcript: ENSMUST00000110717
|
| SMART Domains |
Protein: ENSMUSP00000106345
Gene: ENSMUSG00000029607
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
28 |
57 |
6e-11 |
BLAST |
|
ANK
|
78 |
103 |
1.6e0 |
SMART |
|
ANK
|
107 |
160 |
5.6e0 |
SMART |
|
ANK
|
166 |
195 |
8.4e-5 |
SMART |
|
ANK
|
199 |
228 |
5.3e-6 |
SMART |
|
ANK
|
233 |
272 |
2.4e-2 |
SMART |
|
ANK
|
276 |
305 |
2.3e-6 |
SMART |
|
Blast:ANK
|
309 |
342 |
5e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110718
|
| SMART Domains |
Protein: ENSMUSP00000106346
Gene: ENSMUSG00000029607
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
35 |
60 |
2.55e2 |
SMART |
|
ANK
|
64 |
117 |
8.5e2 |
SMART |
|
ANK
|
123 |
152 |
1.27e-2 |
SMART |
|
ANK
|
156 |
185 |
7.95e-4 |
SMART |
|
ANK
|
190 |
229 |
3.74e0 |
SMART |
|
ANK
|
233 |
262 |
3.46e-4 |
SMART |
|
Blast:ANK
|
266 |
299 |
4e-11 |
BLAST |
|
| Coding Region Coverage |
- 1x: 93.5%
- 3x: 91.1%
- 10x: 86.1%
- 20x: 75.5%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
A |
G |
11: 7,117,133 (GRCm39) |
N1000S |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,413,508 (GRCm39) |
D564G |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,207,390 (GRCm39) |
E12G |
probably benign |
Het |
| Arid1a |
C |
T |
4: 133,409,227 (GRCm39) |
S1375N |
unknown |
Het |
| Atp1a2 |
G |
A |
1: 172,106,941 (GRCm39) |
A793V |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,701,251 (GRCm39) |
Y369C |
probably benign |
Het |
| Catsperg2 |
A |
G |
7: 29,409,586 (GRCm39) |
Y536H |
possibly damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,200,470 (GRCm39) |
Y445H |
probably damaging |
Het |
| Cep170 |
G |
T |
1: 176,607,765 (GRCm39) |
N230K |
unknown |
Het |
| Cftr |
A |
G |
6: 18,277,842 (GRCm39) |
I977V |
probably benign |
Het |
| Chek2 |
A |
G |
5: 111,011,195 (GRCm39) |
Y331C |
probably damaging |
Het |
| Chst13 |
A |
T |
6: 90,286,167 (GRCm39) |
I265K |
probably benign |
Het |
| Coil |
T |
C |
11: 88,872,437 (GRCm39) |
M266T |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,945,456 (GRCm39) |
C28S |
unknown |
Het |
| Col3a1 |
T |
C |
1: 45,374,943 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,956,023 (GRCm39) |
V3395M |
probably benign |
Het |
| Cyp51 |
A |
G |
5: 4,151,200 (GRCm39) |
V143A |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,292,808 (GRCm39) |
I1344N |
probably damaging |
Het |
| Fhip1a |
G |
A |
3: 85,579,779 (GRCm39) |
Q809* |
probably null |
Het |
| Gen1 |
A |
G |
12: 11,291,509 (GRCm39) |
V825A |
probably benign |
Het |
| Gm28042 |
A |
T |
2: 119,870,148 (GRCm39) |
K696* |
probably null |
Het |
| Gm4952 |
A |
G |
19: 12,602,048 (GRCm39) |
Y152C |
probably benign |
Het |
| Hdac3 |
G |
A |
18: 38,074,817 (GRCm39) |
T308I |
probably damaging |
Het |
| Hpx |
T |
C |
7: 105,241,341 (GRCm39) |
T357A |
probably benign |
Het |
| Hscb |
A |
T |
5: 110,983,851 (GRCm39) |
Y139N |
probably damaging |
Het |
| Kcnk9 |
T |
A |
15: 72,384,332 (GRCm39) |
H282L |
probably benign |
Het |
| Kdm2b |
G |
A |
5: 123,079,110 (GRCm39) |
T287M |
probably damaging |
Het |
| Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,520,664 (GRCm39) |
N1815K |
probably benign |
Het |
| Ktn1 |
C |
T |
14: 47,923,774 (GRCm39) |
T511M |
probably damaging |
Het |
| Lrp1 |
C |
G |
10: 127,443,843 (GRCm39) |
Q141H |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,630,530 (GRCm39) |
V131A |
possibly damaging |
Het |
| Man1b1 |
T |
A |
2: 25,233,282 (GRCm39) |
H218Q |
probably damaging |
Het |
| Mapk8ip2 |
T |
A |
15: 89,344,900 (GRCm39) |
C766S |
probably damaging |
Het |
| Mfn1 |
A |
G |
3: 32,615,695 (GRCm39) |
N353D |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,692,907 (GRCm39) |
L474Q |
possibly damaging |
Het |
| Mtr |
T |
A |
13: 12,212,871 (GRCm39) |
R915* |
probably null |
Het |
| Myh6 |
C |
A |
14: 55,187,581 (GRCm39) |
V1263L |
probably benign |
Het |
| Nt5m |
C |
A |
11: 59,765,415 (GRCm39) |
L148M |
probably benign |
Het |
| Or4a67 |
A |
G |
2: 88,597,921 (GRCm39) |
V246A |
possibly damaging |
Het |
| Or51t4 |
A |
T |
7: 102,597,921 (GRCm39) |
D83V |
probably damaging |
Het |
| Or8k21 |
T |
C |
2: 86,145,142 (GRCm39) |
I163V |
possibly damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,789,818 (GRCm39) |
F811I |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,256,069 (GRCm39) |
S724P |
probably damaging |
Het |
| Pfdn5 |
C |
A |
15: 102,237,158 (GRCm39) |
D98E |
probably benign |
Het |
| Ptprs |
G |
A |
17: 56,721,980 (GRCm39) |
P1715S |
probably damaging |
Het |
| Rtkn2 |
T |
A |
10: 67,823,291 (GRCm39) |
L65Q |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,518,763 (GRCm39) |
R379H |
probably damaging |
Het |
| Scn5a |
G |
T |
9: 119,363,636 (GRCm39) |
D501E |
possibly damaging |
Het |
| Spn |
C |
A |
7: 126,735,611 (GRCm39) |
G299W |
probably damaging |
Het |
| St6galnac1 |
T |
C |
11: 116,660,175 (GRCm39) |
N46S |
probably benign |
Het |
| Stx19 |
A |
G |
16: 62,642,871 (GRCm39) |
D229G |
probably benign |
Het |
| Tmc6 |
A |
T |
11: 117,663,556 (GRCm39) |
M552K |
possibly damaging |
Het |
| Tnpo3 |
G |
C |
6: 29,555,221 (GRCm39) |
D787E |
possibly damaging |
Het |
| Tyw5 |
T |
C |
1: 57,427,674 (GRCm39) |
Y310C |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,434,871 (GRCm39) |
F611S |
probably damaging |
Het |
| Vmn2r49 |
C |
T |
7: 9,722,988 (GRCm39) |
M95I |
probably benign |
Het |
| Wfdc8 |
A |
G |
2: 164,445,223 (GRCm39) |
S131P |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,450,545 (GRCm39) |
M1597K |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCTGCTCGAGCTCTTTCAG -3'
(R):5'- GCAATCCCAGCACTTAAGAGG -3'
Sequencing Primer
(F):5'- CTTTCAGCCATTCGGGACAGAAATG -3'
(R):5'- TCCCAGCACTTAAGAGGTATAACAGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation