Incidental Mutation 'R0523:Eif2ak4'
| ID |
48673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2ak4
|
| Ensembl Gene |
ENSMUSG00000005102 |
| Gene Name |
eukaryotic translation initiation factor 2 alpha kinase 4 |
| Synonyms |
GCN2 |
| MMRRC Submission |
038716-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0523 (G1)
|
| Quality Score |
145 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
118219099-118305715 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 118272577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005233]
[ENSMUST00000005233]
[ENSMUST00000005233]
[ENSMUST00000102527]
[ENSMUST00000102527]
[ENSMUST00000102527]
[ENSMUST00000110869]
[ENSMUST00000110869]
[ENSMUST00000110869]
[ENSMUST00000110870]
[ENSMUST00000110870]
[ENSMUST00000110870]
[ENSMUST00000110872]
[ENSMUST00000110872]
[ENSMUST00000110872]
[ENSMUST00000110874]
[ENSMUST00000110874]
[ENSMUST00000110874]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005233
|
| SMART Domains |
Protein: ENSMUSP00000005233
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
RWD
|
25 |
137 |
3.42e-38 |
SMART |
|
coiled coil region
|
146 |
205 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
323 |
538 |
4.6e-27 |
PFAM |
|
Pfam:Pkinase_Tyr
|
326 |
535 |
5.5e-18 |
PFAM |
|
Pfam:Pkinase
|
589 |
663 |
1.7e-11 |
PFAM |
|
Pfam:Pkinase_Tyr
|
589 |
663 |
1.2e-5 |
PFAM |
|
low complexity region
|
728 |
738 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
781 |
1000 |
2.6e-38 |
PFAM |
|
Pfam:Pkinase_Tyr
|
786 |
998 |
1.8e-18 |
PFAM |
|
Pfam:tRNA-synt_His
|
1054 |
1380 |
5.7e-18 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1392 |
1647 |
5.8e-17 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000005233
|
| SMART Domains |
Protein: ENSMUSP00000005233
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
RWD
|
25 |
137 |
3.42e-38 |
SMART |
|
coiled coil region
|
146 |
205 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
323 |
538 |
4.6e-27 |
PFAM |
|
Pfam:Pkinase_Tyr
|
326 |
535 |
5.5e-18 |
PFAM |
|
Pfam:Pkinase
|
589 |
663 |
1.7e-11 |
PFAM |
|
Pfam:Pkinase_Tyr
|
589 |
663 |
1.2e-5 |
PFAM |
|
low complexity region
|
728 |
738 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
781 |
1000 |
2.6e-38 |
PFAM |
|
Pfam:Pkinase_Tyr
|
786 |
998 |
1.8e-18 |
PFAM |
|
Pfam:tRNA-synt_His
|
1054 |
1380 |
5.7e-18 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1392 |
1647 |
5.8e-17 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000005233
|
| SMART Domains |
Protein: ENSMUSP00000005233
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
RWD
|
25 |
137 |
3.42e-38 |
SMART |
|
coiled coil region
|
146 |
205 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
323 |
538 |
4.6e-27 |
PFAM |
|
Pfam:Pkinase_Tyr
|
326 |
535 |
5.5e-18 |
PFAM |
|
Pfam:Pkinase
|
589 |
663 |
1.7e-11 |
PFAM |
|
Pfam:Pkinase_Tyr
|
589 |
663 |
1.2e-5 |
PFAM |
|
low complexity region
|
728 |
738 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
781 |
1000 |
2.6e-38 |
PFAM |
|
Pfam:Pkinase_Tyr
|
786 |
998 |
1.8e-18 |
PFAM |
|
Pfam:tRNA-synt_His
|
1054 |
1380 |
5.7e-18 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1392 |
1647 |
5.8e-17 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102527
|
| SMART Domains |
Protein: ENSMUSP00000099586
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
34 |
93 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
211 |
426 |
1.6e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
215 |
423 |
6.8e-18 |
PFAM |
|
Pfam:Pkinase_Tyr
|
477 |
551 |
1.2e-5 |
PFAM |
|
Pfam:Pkinase
|
477 |
552 |
3.9e-11 |
PFAM |
|
low complexity region
|
616 |
626 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
647 |
888 |
9.4e-42 |
PFAM |
|
Pfam:Pkinase_Tyr
|
672 |
886 |
1.4e-19 |
PFAM |
|
Pfam:tRNA-synt_His
|
941 |
1268 |
4.8e-19 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1280 |
1535 |
1e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102527
|
| SMART Domains |
Protein: ENSMUSP00000099586
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
34 |
93 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
211 |
426 |
1.6e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
215 |
423 |
6.8e-18 |
PFAM |
|
Pfam:Pkinase_Tyr
|
477 |
551 |
1.2e-5 |
PFAM |
|
Pfam:Pkinase
|
477 |
552 |
3.9e-11 |
PFAM |
|
low complexity region
|
616 |
626 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
647 |
888 |
9.4e-42 |
PFAM |
|
Pfam:Pkinase_Tyr
|
672 |
886 |
1.4e-19 |
PFAM |
|
Pfam:tRNA-synt_His
|
941 |
1268 |
4.8e-19 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1280 |
1535 |
1e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102527
|
| SMART Domains |
Protein: ENSMUSP00000099586
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
34 |
93 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
211 |
426 |
1.6e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
215 |
423 |
6.8e-18 |
PFAM |
|
Pfam:Pkinase_Tyr
|
477 |
551 |
1.2e-5 |
PFAM |
|
Pfam:Pkinase
|
477 |
552 |
3.9e-11 |
PFAM |
|
low complexity region
|
616 |
626 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
647 |
888 |
9.4e-42 |
PFAM |
|
Pfam:Pkinase_Tyr
|
672 |
886 |
1.4e-19 |
PFAM |
|
Pfam:tRNA-synt_His
|
941 |
1268 |
4.8e-19 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1280 |
1535 |
1e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110869
|
| SMART Domains |
Protein: ENSMUSP00000106493
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
15 |
199 |
2.3e-32 |
PFAM |
|
Pfam:Pkinase_Tyr
|
16 |
198 |
3.1e-13 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110869
|
| SMART Domains |
Protein: ENSMUSP00000106493
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
15 |
199 |
2.3e-32 |
PFAM |
|
Pfam:Pkinase_Tyr
|
16 |
198 |
3.1e-13 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110869
|
| SMART Domains |
Protein: ENSMUSP00000106493
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
15 |
199 |
2.3e-32 |
PFAM |
|
Pfam:Pkinase_Tyr
|
16 |
198 |
3.1e-13 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110870
|
| SMART Domains |
Protein: ENSMUSP00000106494
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
45 |
260 |
3.3e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
47 |
257 |
1.3e-17 |
PFAM |
|
Pfam:Pkinase_Tyr
|
311 |
385 |
2.5e-5 |
PFAM |
|
Pfam:Pkinase
|
311 |
386 |
8e-11 |
PFAM |
|
low complexity region
|
450 |
460 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
481 |
722 |
1.9e-41 |
PFAM |
|
Pfam:Pkinase_Tyr
|
506 |
720 |
2.8e-19 |
PFAM |
|
Pfam:tRNA-synt_His
|
775 |
1102 |
8.7e-19 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1114 |
1369 |
1.9e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110870
|
| SMART Domains |
Protein: ENSMUSP00000106494
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
45 |
260 |
3.3e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
47 |
257 |
1.3e-17 |
PFAM |
|
Pfam:Pkinase_Tyr
|
311 |
385 |
2.5e-5 |
PFAM |
|
Pfam:Pkinase
|
311 |
386 |
8e-11 |
PFAM |
|
low complexity region
|
450 |
460 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
481 |
722 |
1.9e-41 |
PFAM |
|
Pfam:Pkinase_Tyr
|
506 |
720 |
2.8e-19 |
PFAM |
|
Pfam:tRNA-synt_His
|
775 |
1102 |
8.7e-19 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1114 |
1369 |
1.9e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110870
|
| SMART Domains |
Protein: ENSMUSP00000106494
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
45 |
260 |
3.3e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
47 |
257 |
1.3e-17 |
PFAM |
|
Pfam:Pkinase_Tyr
|
311 |
385 |
2.5e-5 |
PFAM |
|
Pfam:Pkinase
|
311 |
386 |
8e-11 |
PFAM |
|
low complexity region
|
450 |
460 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
481 |
722 |
1.9e-41 |
PFAM |
|
Pfam:Pkinase_Tyr
|
506 |
720 |
2.8e-19 |
PFAM |
|
Pfam:tRNA-synt_His
|
775 |
1102 |
8.7e-19 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1114 |
1369 |
1.9e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110872
|
| SMART Domains |
Protein: ENSMUSP00000106496
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
25 |
84 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
202 |
417 |
3.8e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
206 |
414 |
1.6e-17 |
PFAM |
|
Pfam:Pkinase_Tyr
|
468 |
542 |
2.8e-5 |
PFAM |
|
Pfam:Pkinase
|
468 |
543 |
9.1e-11 |
PFAM |
|
low complexity region
|
607 |
617 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
638 |
879 |
2.2e-41 |
PFAM |
|
Pfam:Pkinase_Tyr
|
663 |
877 |
3.3e-19 |
PFAM |
|
Pfam:tRNA-synt_His
|
932 |
1259 |
1.1e-18 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1271 |
1526 |
2.2e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110872
|
| SMART Domains |
Protein: ENSMUSP00000106496
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
25 |
84 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
202 |
417 |
3.8e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
206 |
414 |
1.6e-17 |
PFAM |
|
Pfam:Pkinase_Tyr
|
468 |
542 |
2.8e-5 |
PFAM |
|
Pfam:Pkinase
|
468 |
543 |
9.1e-11 |
PFAM |
|
low complexity region
|
607 |
617 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
638 |
879 |
2.2e-41 |
PFAM |
|
Pfam:Pkinase_Tyr
|
663 |
877 |
3.3e-19 |
PFAM |
|
Pfam:tRNA-synt_His
|
932 |
1259 |
1.1e-18 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1271 |
1526 |
2.2e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110872
|
| SMART Domains |
Protein: ENSMUSP00000106496
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
25 |
84 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
202 |
417 |
3.8e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
206 |
414 |
1.6e-17 |
PFAM |
|
Pfam:Pkinase_Tyr
|
468 |
542 |
2.8e-5 |
PFAM |
|
Pfam:Pkinase
|
468 |
543 |
9.1e-11 |
PFAM |
|
low complexity region
|
607 |
617 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
638 |
879 |
2.2e-41 |
PFAM |
|
Pfam:Pkinase_Tyr
|
663 |
877 |
3.3e-19 |
PFAM |
|
Pfam:tRNA-synt_His
|
932 |
1259 |
1.1e-18 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1271 |
1526 |
2.2e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110874
|
| SMART Domains |
Protein: ENSMUSP00000106498
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RWD
|
8 |
56 |
6.4e-8 |
PFAM |
|
coiled coil region
|
68 |
127 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
245 |
460 |
1.1e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
247 |
457 |
4.2e-18 |
PFAM |
|
Pfam:Pkinase_Tyr
|
511 |
585 |
7.8e-6 |
PFAM |
|
Pfam:Pkinase
|
511 |
586 |
2.5e-11 |
PFAM |
|
low complexity region
|
650 |
660 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
681 |
922 |
6.2e-42 |
PFAM |
|
Pfam:Pkinase_Tyr
|
706 |
920 |
9.3e-20 |
PFAM |
|
Pfam:tRNA-synt_His
|
975 |
1302 |
3.8e-19 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1314 |
1569 |
5.4e-17 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110874
|
| SMART Domains |
Protein: ENSMUSP00000106498
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RWD
|
8 |
56 |
6.4e-8 |
PFAM |
|
coiled coil region
|
68 |
127 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
245 |
460 |
1.1e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
247 |
457 |
4.2e-18 |
PFAM |
|
Pfam:Pkinase_Tyr
|
511 |
585 |
7.8e-6 |
PFAM |
|
Pfam:Pkinase
|
511 |
586 |
2.5e-11 |
PFAM |
|
low complexity region
|
650 |
660 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
681 |
922 |
6.2e-42 |
PFAM |
|
Pfam:Pkinase_Tyr
|
706 |
920 |
9.3e-20 |
PFAM |
|
Pfam:tRNA-synt_His
|
975 |
1302 |
3.8e-19 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1314 |
1569 |
5.4e-17 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110874
|
| SMART Domains |
Protein: ENSMUSP00000106498
Gene: ENSMUSG00000005102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RWD
|
8 |
56 |
6.4e-8 |
PFAM |
|
coiled coil region
|
68 |
127 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
245 |
460 |
1.1e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
247 |
457 |
4.2e-18 |
PFAM |
|
Pfam:Pkinase_Tyr
|
511 |
585 |
7.8e-6 |
PFAM |
|
Pfam:Pkinase
|
511 |
586 |
2.5e-11 |
PFAM |
|
low complexity region
|
650 |
660 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
681 |
922 |
6.2e-42 |
PFAM |
|
Pfam:Pkinase_Tyr
|
706 |
920 |
9.3e-20 |
PFAM |
|
Pfam:tRNA-synt_His
|
975 |
1302 |
3.8e-19 |
PFAM |
|
Pfam:HGTP_anticodon2
|
1314 |
1569 |
5.4e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for a null allele have altered feeding behavior, synaptic plasticity and dendritic cell function. Homozygotes for another null allele show enhanced muscle loss and morbidity after amino acid deprivation. Homozygotes for an ENU-induced allele show higher susceptibility to viral infection. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(8) : Targeted(3) Gene trapped(4) Chemically induced(1)
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,535,289 (GRCm39) |
D807G |
possibly damaging |
Het |
| Actl9 |
T |
A |
17: 33,652,323 (GRCm39) |
W128R |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,492,924 (GRCm39) |
I562V |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,715,200 (GRCm39) |
E79D |
probably benign |
Het |
| Apobec1 |
T |
A |
6: 122,558,504 (GRCm39) |
I84F |
probably damaging |
Het |
| Atp6v1b2 |
T |
C |
8: 69,562,637 (GRCm39) |
F458L |
possibly damaging |
Het |
| Bco2 |
A |
T |
9: 50,445,926 (GRCm39) |
V490E |
probably damaging |
Het |
| Catsperg1 |
G |
A |
7: 28,884,615 (GRCm39) |
|
probably benign |
Het |
| Cdc37 |
T |
C |
9: 21,054,292 (GRCm39) |
K111R |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,744,745 (GRCm39) |
|
probably benign |
Het |
| Cfap91 |
G |
A |
16: 38,148,736 (GRCm39) |
P231S |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,223,870 (GRCm39) |
Y878N |
probably damaging |
Het |
| Cpox |
T |
A |
16: 58,495,608 (GRCm39) |
C308* |
probably null |
Het |
| Cracdl |
A |
T |
1: 37,683,710 (GRCm39) |
M1K |
probably null |
Het |
| Ctnna3 |
T |
G |
10: 64,511,688 (GRCm39) |
M626R |
probably damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,727,873 (GRCm39) |
E93G |
probably benign |
Het |
| Cyp2s1 |
G |
A |
7: 25,505,475 (GRCm39) |
R330W |
probably damaging |
Het |
| Diaph1 |
C |
T |
18: 37,989,553 (GRCm39) |
V860I |
possibly damaging |
Het |
| Dicer1 |
A |
G |
12: 104,668,750 (GRCm39) |
S1311P |
probably damaging |
Het |
| Dpyd |
G |
A |
3: 118,692,852 (GRCm39) |
R332K |
probably benign |
Het |
| E130308A19Rik |
G |
A |
4: 59,719,716 (GRCm39) |
R416H |
probably damaging |
Het |
| Eef1d |
T |
C |
15: 75,775,005 (GRCm39) |
D218G |
probably benign |
Het |
| Eif2ak1 |
T |
C |
5: 143,818,984 (GRCm39) |
V215A |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,365,099 (GRCm39) |
S583P |
possibly damaging |
Het |
| Garin5b |
A |
G |
7: 4,762,392 (GRCm39) |
S246P |
possibly damaging |
Het |
| Grid2ip |
C |
A |
5: 143,358,798 (GRCm39) |
Q29K |
possibly damaging |
Het |
| Htr1f |
A |
T |
16: 64,746,262 (GRCm39) |
N343K |
probably damaging |
Het |
| Hvcn1 |
T |
C |
5: 122,354,428 (GRCm39) |
|
probably null |
Het |
| Igf2r |
T |
C |
17: 12,910,951 (GRCm39) |
I1956V |
probably benign |
Het |
| Impdh2 |
A |
T |
9: 108,439,018 (GRCm39) |
|
probably null |
Het |
| Impdh2 |
C |
T |
9: 108,439,019 (GRCm39) |
T96I |
possibly damaging |
Het |
| Lactb |
C |
G |
9: 66,877,974 (GRCm39) |
G285A |
probably benign |
Het |
| Lrrc43 |
T |
C |
5: 123,639,305 (GRCm39) |
S445P |
probably damaging |
Het |
| Mapk12 |
T |
G |
15: 89,019,848 (GRCm39) |
M120L |
probably benign |
Het |
| Mroh8 |
C |
G |
2: 157,065,956 (GRCm39) |
A669P |
probably damaging |
Het |
| Mrpl38 |
A |
C |
11: 116,022,844 (GRCm39) |
H373Q |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,071,728 (GRCm39) |
V740A |
probably damaging |
Het |
| Naprt |
A |
G |
15: 75,764,314 (GRCm39) |
F300S |
probably damaging |
Het |
| Ncam2 |
T |
C |
16: 81,258,531 (GRCm39) |
I271T |
probably damaging |
Het |
| Nek4 |
A |
G |
14: 30,701,995 (GRCm39) |
T582A |
probably benign |
Het |
| Notch2 |
C |
T |
3: 97,978,286 (GRCm39) |
T89I |
probably benign |
Het |
| Notch2 |
G |
A |
3: 98,018,914 (GRCm39) |
R692H |
probably benign |
Het |
| Nt5c3 |
A |
T |
6: 56,860,666 (GRCm39) |
N296K |
probably damaging |
Het |
| Nt5c3b |
T |
A |
11: 100,327,036 (GRCm39) |
I87F |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,904,209 (GRCm39) |
Q555R |
unknown |
Het |
| Or2ag17 |
A |
G |
7: 106,389,533 (GRCm39) |
V225A |
probably damaging |
Het |
| Or5p69 |
A |
T |
7: 107,967,438 (GRCm39) |
H247L |
probably damaging |
Het |
| Or9g19 |
T |
A |
2: 85,600,273 (GRCm39) |
S43T |
probably benign |
Het |
| P3h1 |
C |
A |
4: 119,098,727 (GRCm39) |
Q410K |
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,172,078 (GRCm39) |
V44A |
possibly damaging |
Het |
| Pde1c |
T |
A |
6: 56,151,926 (GRCm39) |
L252F |
probably damaging |
Het |
| Pdzd7 |
T |
A |
19: 45,024,529 (GRCm39) |
T497S |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,155,552 (GRCm39) |
T253A |
probably damaging |
Het |
| Pipox |
T |
C |
11: 77,782,965 (GRCm39) |
E79G |
probably damaging |
Het |
| Pole |
G |
T |
5: 110,451,459 (GRCm39) |
M829I |
probably damaging |
Het |
| Ppp1r12c |
A |
T |
7: 4,492,771 (GRCm39) |
L156Q |
probably damaging |
Het |
| Psme2b |
T |
G |
11: 48,836,609 (GRCm39) |
T113P |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,416,081 (GRCm39) |
I1739T |
possibly damaging |
Het |
| Qser1 |
T |
C |
2: 104,620,021 (GRCm39) |
T174A |
probably damaging |
Het |
| Rcor3 |
T |
G |
1: 191,814,736 (GRCm39) |
D81A |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,724,045 (GRCm39) |
V785A |
probably benign |
Het |
| Rnf11 |
T |
C |
4: 109,314,119 (GRCm39) |
D90G |
probably benign |
Het |
| Sh3tc1 |
GCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCC |
5: 35,881,410 (GRCm39) |
|
probably benign |
Het |
| Smad2 |
T |
A |
18: 76,395,623 (GRCm39) |
S21T |
probably benign |
Het |
| Smc4 |
A |
G |
3: 68,933,221 (GRCm39) |
D639G |
probably damaging |
Het |
| Smtn |
A |
T |
11: 3,474,664 (GRCm39) |
S716T |
possibly damaging |
Het |
| Smug1 |
G |
T |
15: 103,064,136 (GRCm39) |
Q262K |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,428,794 (GRCm39) |
G403V |
probably benign |
Het |
| Tas2r131 |
A |
G |
6: 132,934,414 (GRCm39) |
F132L |
possibly damaging |
Het |
| Tgm3 |
T |
C |
2: 129,886,582 (GRCm39) |
|
probably null |
Het |
| Tigd2 |
C |
T |
6: 59,187,358 (GRCm39) |
T75M |
probably benign |
Het |
| Tnfrsf13b |
T |
C |
11: 61,038,413 (GRCm39) |
V232A |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trim47 |
A |
G |
11: 115,998,716 (GRCm39) |
L301S |
probably damaging |
Het |
| Trim75 |
G |
A |
8: 65,436,442 (GRCm39) |
H3Y |
probably benign |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Tsbp1 |
G |
T |
17: 34,664,473 (GRCm39) |
|
probably null |
Het |
| Ttc29 |
G |
C |
8: 79,003,466 (GRCm39) |
L227F |
probably benign |
Het |
| Ttc39d |
G |
A |
17: 80,523,886 (GRCm39) |
D182N |
possibly damaging |
Het |
| Ttll10 |
T |
A |
4: 156,129,818 (GRCm39) |
R164* |
probably null |
Het |
| Ufsp2 |
T |
A |
8: 46,449,780 (GRCm39) |
D447E |
probably benign |
Het |
| Ugt2b37 |
T |
A |
5: 87,399,691 (GRCm39) |
L272F |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,472,196 (GRCm39) |
V833A |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,989,165 (GRCm39) |
T308A |
probably benign |
Het |
| Zfp933 |
G |
A |
4: 147,910,919 (GRCm39) |
Q226* |
probably null |
Het |
|
| Other mutations in Eif2ak4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Eif2ak4
|
APN |
2 |
118,294,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00806:Eif2ak4
|
APN |
2 |
118,271,647 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01343:Eif2ak4
|
APN |
2 |
118,252,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01796:Eif2ak4
|
APN |
2 |
118,276,785 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02263:Eif2ak4
|
APN |
2 |
118,292,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02391:Eif2ak4
|
APN |
2 |
118,251,272 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02516:Eif2ak4
|
APN |
2 |
118,266,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02603:Eif2ak4
|
APN |
2 |
118,280,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02731:Eif2ak4
|
APN |
2 |
118,219,295 (GRCm39) |
missense |
probably benign |
|
|
IGL02928:Eif2ak4
|
APN |
2 |
118,303,168 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02947:Eif2ak4
|
APN |
2 |
118,261,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03191:Eif2ak4
|
APN |
2 |
118,252,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03202:Eif2ak4
|
APN |
2 |
118,231,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03235:Eif2ak4
|
APN |
2 |
118,273,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03375:Eif2ak4
|
APN |
2 |
118,252,799 (GRCm39) |
missense |
probably benign |
0.08 |
|
absurdum
|
UTSW |
2 |
118,251,291 (GRCm39) |
nonsense |
probably null |
|
|
Ad
|
UTSW |
2 |
118,266,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
atchoum
|
UTSW |
2 |
118,231,134 (GRCm39) |
splice site |
probably benign |
|
|
reductio
|
UTSW |
2 |
118,266,639 (GRCm39) |
splice site |
probably null |
|
|
PIT4520001:Eif2ak4
|
UTSW |
2 |
118,292,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0023:Eif2ak4
|
UTSW |
2 |
118,293,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Eif2ak4
|
UTSW |
2 |
118,294,410 (GRCm39) |
splice site |
probably null |
|
|
R0482:Eif2ak4
|
UTSW |
2 |
118,292,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Eif2ak4
|
UTSW |
2 |
118,261,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0578:Eif2ak4
|
UTSW |
2 |
118,305,472 (GRCm39) |
splice site |
probably benign |
|
|
R0615:Eif2ak4
|
UTSW |
2 |
118,266,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1300:Eif2ak4
|
UTSW |
2 |
118,294,464 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1531:Eif2ak4
|
UTSW |
2 |
118,273,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Eif2ak4
|
UTSW |
2 |
118,261,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1866:Eif2ak4
|
UTSW |
2 |
118,303,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Eif2ak4
|
UTSW |
2 |
118,278,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Eif2ak4
|
UTSW |
2 |
118,292,238 (GRCm39) |
nonsense |
probably null |
|
|
R2011:Eif2ak4
|
UTSW |
2 |
118,261,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2046:Eif2ak4
|
UTSW |
2 |
118,281,889 (GRCm39) |
splice site |
probably benign |
|
|
R2122:Eif2ak4
|
UTSW |
2 |
118,286,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Eif2ak4
|
UTSW |
2 |
118,252,604 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2126:Eif2ak4
|
UTSW |
2 |
118,252,604 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2193:Eif2ak4
|
UTSW |
2 |
118,252,747 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2259:Eif2ak4
|
UTSW |
2 |
118,286,264 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2513:Eif2ak4
|
UTSW |
2 |
118,257,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3798:Eif2ak4
|
UTSW |
2 |
118,304,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Eif2ak4
|
UTSW |
2 |
118,261,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3900:Eif2ak4
|
UTSW |
2 |
118,305,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4375:Eif2ak4
|
UTSW |
2 |
118,258,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4423:Eif2ak4
|
UTSW |
2 |
118,269,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4589:Eif2ak4
|
UTSW |
2 |
118,247,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4734:Eif2ak4
|
UTSW |
2 |
118,252,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5173:Eif2ak4
|
UTSW |
2 |
118,238,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5367:Eif2ak4
|
UTSW |
2 |
118,266,639 (GRCm39) |
splice site |
probably null |
|
|
R5471:Eif2ak4
|
UTSW |
2 |
118,304,613 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5528:Eif2ak4
|
UTSW |
2 |
118,258,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5634:Eif2ak4
|
UTSW |
2 |
118,292,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Eif2ak4
|
UTSW |
2 |
118,273,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5756:Eif2ak4
|
UTSW |
2 |
118,293,221 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5779:Eif2ak4
|
UTSW |
2 |
118,243,444 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5807:Eif2ak4
|
UTSW |
2 |
118,219,332 (GRCm39) |
missense |
probably benign |
|
|
R6045:Eif2ak4
|
UTSW |
2 |
118,219,296 (GRCm39) |
nonsense |
probably null |
|
|
R6187:Eif2ak4
|
UTSW |
2 |
118,287,638 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6193:Eif2ak4
|
UTSW |
2 |
118,231,081 (GRCm39) |
start gained |
probably benign |
|
|
R6468:Eif2ak4
|
UTSW |
2 |
118,266,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6555:Eif2ak4
|
UTSW |
2 |
118,258,350 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6616:Eif2ak4
|
UTSW |
2 |
118,285,326 (GRCm39) |
nonsense |
probably null |
|
|
R6737:Eif2ak4
|
UTSW |
2 |
118,292,749 (GRCm39) |
frame shift |
probably null |
|
|
R6956:Eif2ak4
|
UTSW |
2 |
118,252,748 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7075:Eif2ak4
|
UTSW |
2 |
118,251,291 (GRCm39) |
nonsense |
probably null |
|
|
R7109:Eif2ak4
|
UTSW |
2 |
118,235,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7228:Eif2ak4
|
UTSW |
2 |
118,287,638 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7441:Eif2ak4
|
UTSW |
2 |
118,302,377 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7555:Eif2ak4
|
UTSW |
2 |
118,247,764 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7567:Eif2ak4
|
UTSW |
2 |
118,280,795 (GRCm39) |
missense |
probably benign |
|
|
R8004:Eif2ak4
|
UTSW |
2 |
118,247,775 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8063:Eif2ak4
|
UTSW |
2 |
118,241,382 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8092:Eif2ak4
|
UTSW |
2 |
118,272,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8195:Eif2ak4
|
UTSW |
2 |
118,280,819 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8306:Eif2ak4
|
UTSW |
2 |
118,287,656 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8470:Eif2ak4
|
UTSW |
2 |
118,293,207 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8671:Eif2ak4
|
UTSW |
2 |
118,252,667 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8693:Eif2ak4
|
UTSW |
2 |
118,262,718 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8714:Eif2ak4
|
UTSW |
2 |
118,292,765 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8744:Eif2ak4
|
UTSW |
2 |
118,261,474 (GRCm39) |
nonsense |
probably null |
|
|
R8813:Eif2ak4
|
UTSW |
2 |
118,278,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8917:Eif2ak4
|
UTSW |
2 |
118,287,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Eif2ak4
|
UTSW |
2 |
118,258,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Eif2ak4
|
UTSW |
2 |
118,271,701 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9189:Eif2ak4
|
UTSW |
2 |
118,258,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9231:Eif2ak4
|
UTSW |
2 |
118,271,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9268:Eif2ak4
|
UTSW |
2 |
118,271,701 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9321:Eif2ak4
|
UTSW |
2 |
118,292,798 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9512:Eif2ak4
|
UTSW |
2 |
118,293,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9569:Eif2ak4
|
UTSW |
2 |
118,251,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9658:Eif2ak4
|
UTSW |
2 |
118,269,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Eif2ak4
|
UTSW |
2 |
118,247,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9757:Eif2ak4
|
UTSW |
2 |
118,269,398 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9766:Eif2ak4
|
UTSW |
2 |
118,261,313 (GRCm39) |
nonsense |
probably null |
|
|
X0061:Eif2ak4
|
UTSW |
2 |
118,298,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2013-06-12 |
Incidental Mutation