Incidental Mutation 'R1865:Eif4g1'
ID |
208667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif4g1
|
Ensembl Gene |
ENSMUSG00000045983 |
Gene Name |
eukaryotic translation initiation factor 4, gamma 1 |
Synonyms |
E030015G23Rik |
MMRRC Submission |
039888-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R1865 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
20491457-20511633 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20497398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 202
(T202A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073506
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044783]
[ENSMUST00000073840]
[ENSMUST00000115457]
[ENSMUST00000115460]
[ENSMUST00000115461]
[ENSMUST00000115463]
[ENSMUST00000128594]
[ENSMUST00000141034]
[ENSMUST00000151679]
[ENSMUST00000154594]
[ENSMUST00000142344]
[ENSMUST00000128840]
[ENSMUST00000140576]
[ENSMUST00000136713]
[ENSMUST00000150333]
[ENSMUST00000143939]
[ENSMUST00000156226]
[ENSMUST00000154950]
[ENSMUST00000231618]
|
AlphaFold |
Q6NZJ6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044783
AA Change: T209A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000047678 Gene: ENSMUSG00000045983 AA Change: T209A
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
81 |
N/A |
INTRINSIC |
PDB:1LJ2|D
|
179 |
206 |
1e-10 |
PDB |
low complexity region
|
260 |
286 |
N/A |
INTRINSIC |
low complexity region
|
436 |
457 |
N/A |
INTRINSIC |
low complexity region
|
464 |
487 |
N/A |
INTRINSIC |
Blast:MIF4G
|
638 |
683 |
7e-9 |
BLAST |
low complexity region
|
685 |
707 |
N/A |
INTRINSIC |
MIF4G
|
765 |
993 |
5.14e-72 |
SMART |
low complexity region
|
1035 |
1047 |
N/A |
INTRINSIC |
low complexity region
|
1092 |
1106 |
N/A |
INTRINSIC |
low complexity region
|
1157 |
1178 |
N/A |
INTRINSIC |
low complexity region
|
1186 |
1201 |
N/A |
INTRINSIC |
MA3
|
1242 |
1354 |
3.83e-39 |
SMART |
low complexity region
|
1441 |
1452 |
N/A |
INTRINSIC |
eIF5C
|
1508 |
1595 |
3.78e-33 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073840
AA Change: T202A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000073506 Gene: ENSMUSG00000045983 AA Change: T202A
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
74 |
N/A |
INTRINSIC |
PDB:1LJ2|D
|
172 |
199 |
1e-10 |
PDB |
low complexity region
|
253 |
279 |
N/A |
INTRINSIC |
low complexity region
|
429 |
450 |
N/A |
INTRINSIC |
low complexity region
|
457 |
480 |
N/A |
INTRINSIC |
Blast:MIF4G
|
631 |
676 |
7e-9 |
BLAST |
low complexity region
|
678 |
700 |
N/A |
INTRINSIC |
MIF4G
|
758 |
986 |
5.14e-72 |
SMART |
low complexity region
|
1028 |
1040 |
N/A |
INTRINSIC |
low complexity region
|
1085 |
1099 |
N/A |
INTRINSIC |
low complexity region
|
1150 |
1171 |
N/A |
INTRINSIC |
low complexity region
|
1179 |
1194 |
N/A |
INTRINSIC |
MA3
|
1235 |
1347 |
3.83e-39 |
SMART |
low complexity region
|
1434 |
1445 |
N/A |
INTRINSIC |
eIF5C
|
1501 |
1588 |
3.78e-33 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115457
AA Change: T162A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111117 Gene: ENSMUSG00000045983 AA Change: T162A
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
34 |
N/A |
INTRINSIC |
PDB:1LJ2|D
|
132 |
159 |
9e-11 |
PDB |
low complexity region
|
213 |
239 |
N/A |
INTRINSIC |
low complexity region
|
389 |
410 |
N/A |
INTRINSIC |
low complexity region
|
417 |
440 |
N/A |
INTRINSIC |
Blast:MIF4G
|
591 |
636 |
7e-9 |
BLAST |
low complexity region
|
638 |
660 |
N/A |
INTRINSIC |
MIF4G
|
718 |
946 |
5.14e-72 |
SMART |
low complexity region
|
988 |
1000 |
N/A |
INTRINSIC |
low complexity region
|
1045 |
1059 |
N/A |
INTRINSIC |
low complexity region
|
1110 |
1131 |
N/A |
INTRINSIC |
low complexity region
|
1139 |
1154 |
N/A |
INTRINSIC |
MA3
|
1195 |
1307 |
3.83e-39 |
SMART |
low complexity region
|
1394 |
1405 |
N/A |
INTRINSIC |
eIF5C
|
1461 |
1548 |
3.78e-33 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115460
AA Change: T209A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111120 Gene: ENSMUSG00000045983 AA Change: T209A
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
81 |
N/A |
INTRINSIC |
PDB:1LJ2|D
|
179 |
206 |
1e-10 |
PDB |
low complexity region
|
260 |
286 |
N/A |
INTRINSIC |
low complexity region
|
436 |
457 |
N/A |
INTRINSIC |
low complexity region
|
464 |
487 |
N/A |
INTRINSIC |
Blast:MIF4G
|
638 |
683 |
7e-9 |
BLAST |
low complexity region
|
685 |
707 |
N/A |
INTRINSIC |
MIF4G
|
765 |
993 |
5.14e-72 |
SMART |
low complexity region
|
1035 |
1047 |
N/A |
INTRINSIC |
low complexity region
|
1092 |
1106 |
N/A |
INTRINSIC |
low complexity region
|
1157 |
1178 |
N/A |
INTRINSIC |
low complexity region
|
1186 |
1201 |
N/A |
INTRINSIC |
MA3
|
1242 |
1354 |
3.83e-39 |
SMART |
low complexity region
|
1441 |
1452 |
N/A |
INTRINSIC |
eIF5C
|
1508 |
1595 |
3.78e-33 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115461
AA Change: T202A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111121 Gene: ENSMUSG00000045983 AA Change: T202A
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
74 |
N/A |
INTRINSIC |
PDB:1LJ2|D
|
172 |
199 |
1e-10 |
PDB |
low complexity region
|
253 |
279 |
N/A |
INTRINSIC |
low complexity region
|
429 |
450 |
N/A |
INTRINSIC |
low complexity region
|
457 |
480 |
N/A |
INTRINSIC |
Blast:MIF4G
|
631 |
676 |
8e-9 |
BLAST |
low complexity region
|
678 |
693 |
N/A |
INTRINSIC |
MIF4G
|
759 |
987 |
5.14e-72 |
SMART |
low complexity region
|
1029 |
1041 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1100 |
N/A |
INTRINSIC |
low complexity region
|
1151 |
1172 |
N/A |
INTRINSIC |
low complexity region
|
1180 |
1195 |
N/A |
INTRINSIC |
MA3
|
1236 |
1348 |
3.83e-39 |
SMART |
low complexity region
|
1435 |
1446 |
N/A |
INTRINSIC |
eIF5C
|
1502 |
1589 |
3.78e-33 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115463
AA Change: T202A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000111123 Gene: ENSMUSG00000045983 AA Change: T202A
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
74 |
N/A |
INTRINSIC |
PDB:1LJ2|D
|
172 |
199 |
1e-10 |
PDB |
low complexity region
|
253 |
279 |
N/A |
INTRINSIC |
low complexity region
|
429 |
450 |
N/A |
INTRINSIC |
low complexity region
|
457 |
480 |
N/A |
INTRINSIC |
Blast:MIF4G
|
631 |
676 |
7e-9 |
BLAST |
low complexity region
|
678 |
700 |
N/A |
INTRINSIC |
MIF4G
|
758 |
986 |
5.14e-72 |
SMART |
low complexity region
|
1030 |
1036 |
N/A |
INTRINSIC |
low complexity region
|
1078 |
1092 |
N/A |
INTRINSIC |
low complexity region
|
1143 |
1164 |
N/A |
INTRINSIC |
low complexity region
|
1172 |
1187 |
N/A |
INTRINSIC |
MA3
|
1228 |
1340 |
3.83e-39 |
SMART |
low complexity region
|
1427 |
1438 |
N/A |
INTRINSIC |
eIF5C
|
1494 |
1581 |
3.78e-33 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128594
AA Change: T38A
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000144594 Gene: ENSMUSG00000045983 AA Change: T38A
Domain | Start | End | E-Value | Type |
PDB:1LJ2|D
|
8 |
35 |
5e-11 |
PDB |
low complexity region
|
89 |
115 |
N/A |
INTRINSIC |
low complexity region
|
265 |
286 |
N/A |
INTRINSIC |
low complexity region
|
293 |
316 |
N/A |
INTRINSIC |
Blast:MIF4G
|
467 |
512 |
4e-9 |
BLAST |
low complexity region
|
514 |
536 |
N/A |
INTRINSIC |
MIF4G
|
594 |
795 |
1.1e-52 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141034
AA Change: T199A
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000120035 Gene: ENSMUSG00000045983 AA Change: T199A
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
81 |
N/A |
INTRINSIC |
PDB:4F02|F
|
175 |
200 |
4e-11 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151679
AA Change: T162A
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000120698 Gene: ENSMUSG00000045983 AA Change: T162A
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
34 |
N/A |
INTRINSIC |
PDB:1LJ2|D
|
132 |
159 |
8e-13 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154594
AA Change: T38A
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000144233 Gene: ENSMUSG00000045983 AA Change: T38A
Domain | Start | End | E-Value | Type |
PDB:1LJ2|D
|
8 |
35 |
3e-12 |
PDB |
low complexity region
|
89 |
115 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142344
AA Change: T202A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000116029 Gene: ENSMUSG00000045983 AA Change: T202A
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
74 |
N/A |
INTRINSIC |
PDB:1LJ2|D
|
172 |
199 |
5e-11 |
PDB |
low complexity region
|
253 |
279 |
N/A |
INTRINSIC |
low complexity region
|
429 |
450 |
N/A |
INTRINSIC |
low complexity region
|
457 |
480 |
N/A |
INTRINSIC |
Blast:MIF4G
|
631 |
672 |
6e-8 |
BLAST |
low complexity region
|
678 |
693 |
N/A |
INTRINSIC |
MIF4G
|
759 |
958 |
5.49e-49 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128840
AA Change: T115A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143861 Gene: ENSMUSG00000045983 AA Change: T115A
Domain | Start | End | E-Value | Type |
PDB:1LJ2|D
|
85 |
112 |
5e-13 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140576
AA Change: T159A
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000117587 Gene: ENSMUSG00000045983 AA Change: T159A
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
41 |
N/A |
INTRINSIC |
PDB:1LJ2|D
|
129 |
156 |
3e-12 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136713
AA Change: T115A
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143999 Gene: ENSMUSG00000045983 AA Change: T115A
Domain | Start | End | E-Value | Type |
PDB:1LJ2|D
|
85 |
112 |
3e-13 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150333
AA Change: T143A
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144107 Gene: ENSMUSG00000045983 AA Change: T143A
Domain | Start | End | E-Value | Type |
PDB:1LJ2|D
|
113 |
140 |
5e-11 |
PDB |
low complexity region
|
194 |
220 |
N/A |
INTRINSIC |
low complexity region
|
370 |
391 |
N/A |
INTRINSIC |
low complexity region
|
398 |
421 |
N/A |
INTRINSIC |
Blast:MIF4G
|
572 |
613 |
9e-8 |
BLAST |
low complexity region
|
619 |
641 |
N/A |
INTRINSIC |
MIF4G
|
699 |
900 |
1.1e-52 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137690
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132320
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136106
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143939
|
SMART Domains |
Protein: ENSMUSP00000144320 Gene: ENSMUSG00000045983
Domain | Start | End | E-Value | Type |
low complexity region
|
139 |
160 |
N/A |
INTRINSIC |
low complexity region
|
167 |
190 |
N/A |
INTRINSIC |
Blast:MIF4G
|
341 |
386 |
6e-9 |
BLAST |
low complexity region
|
388 |
410 |
N/A |
INTRINSIC |
MIF4G
|
468 |
696 |
2.2e-74 |
SMART |
low complexity region
|
738 |
750 |
N/A |
INTRINSIC |
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
low complexity region
|
860 |
881 |
N/A |
INTRINSIC |
low complexity region
|
889 |
904 |
N/A |
INTRINSIC |
MA3
|
945 |
1057 |
1.7e-41 |
SMART |
low complexity region
|
1144 |
1155 |
N/A |
INTRINSIC |
eIF5C
|
1211 |
1298 |
1.8e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156226
|
SMART Domains |
Protein: ENSMUSP00000119215 Gene: ENSMUSG00000045983
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
74 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154950
|
SMART Domains |
Protein: ENSMUSP00000115230 Gene: ENSMUSG00000045983
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
81 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231618
|
Meta Mutation Damage Score |
0.1463 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.3%
|
Validation Efficiency |
98% (99/101) |
MGI Phenotype |
FUNCTION: This gene encodes a member of the eukaryotic translation initiation factors (eIF) that play important roles in translation initiation by mediating recruitment of additional initiation factors and providing a scaffold for ribosome/mRNA-bridging. Along with eIF4A and eIF4E, the encoded protein forms the eIF4F complex that bridges the 5' UTR with the polyadenylated 3' UTR resulting in mRNA circularization, enhanced translation initiation and mRNA stability. Through its association with eIF3, the encoded protein mediates recruitment of the 43S pre-initiation complex to mRNA. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes for this gene have been identified on chromosomes 2 and 13. [provided by RefSeq, Jan 2015] PHENOTYPE: Mice homozygous for an amino acid substitution (R1207H) are viable and fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 97 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012P17Rik |
A |
G |
1: 158,797,094 (GRCm39) |
|
noncoding transcript |
Het |
Aatk |
G |
A |
11: 119,901,048 (GRCm39) |
T1059M |
probably benign |
Het |
Adgrg2 |
G |
A |
X: 159,265,347 (GRCm39) |
M532I |
probably benign |
Het |
Agrn |
GCTCT |
GCTCTCT |
4: 156,250,976 (GRCm39) |
|
probably null |
Het |
Ahcyl2 |
G |
A |
6: 29,908,354 (GRCm39) |
V575M |
probably damaging |
Het |
Apobr |
A |
G |
7: 126,185,140 (GRCm39) |
D217G |
probably benign |
Het |
Aqp9 |
A |
C |
9: 71,019,658 (GRCm39) |
N267K |
probably benign |
Het |
Arap2 |
A |
G |
5: 62,855,606 (GRCm39) |
V610A |
probably damaging |
Het |
Arhgap21 |
T |
C |
2: 20,866,015 (GRCm39) |
E893G |
probably damaging |
Het |
Atn1 |
T |
C |
6: 124,722,259 (GRCm39) |
|
probably benign |
Het |
Bcl7a |
A |
T |
5: 123,494,032 (GRCm39) |
D68V |
probably damaging |
Het |
Cbl |
A |
C |
9: 44,075,462 (GRCm39) |
C394W |
probably damaging |
Het |
Ccdc18 |
T |
A |
5: 108,341,668 (GRCm39) |
D854E |
probably benign |
Het |
Ccdc93 |
A |
T |
1: 121,426,956 (GRCm39) |
E580V |
probably damaging |
Het |
Cd180 |
T |
A |
13: 102,842,517 (GRCm39) |
M521K |
probably benign |
Het |
Cd300ld2 |
T |
G |
11: 114,903,444 (GRCm39) |
|
probably benign |
Het |
Cdh10 |
T |
C |
15: 18,899,690 (GRCm39) |
F6L |
probably benign |
Het |
Cep78 |
A |
G |
19: 15,933,368 (GRCm39) |
S737P |
probably damaging |
Het |
Ces1f |
G |
T |
8: 94,000,893 (GRCm39) |
|
probably benign |
Het |
Clcn1 |
T |
A |
6: 42,282,475 (GRCm39) |
D442E |
probably damaging |
Het |
Col20a1 |
T |
C |
2: 180,657,606 (GRCm39) |
L1250P |
possibly damaging |
Het |
Crispld2 |
G |
A |
8: 120,737,306 (GRCm39) |
G19E |
probably benign |
Het |
Ctbp2 |
C |
T |
7: 132,592,283 (GRCm39) |
A849T |
probably benign |
Het |
Cts6 |
A |
G |
13: 61,349,393 (GRCm39) |
I105T |
probably benign |
Het |
Cul4a |
A |
G |
8: 13,192,589 (GRCm39) |
T617A |
possibly damaging |
Het |
Cyp2c68 |
G |
T |
19: 39,722,733 (GRCm39) |
R272S |
probably benign |
Het |
Cystm1 |
A |
G |
18: 36,499,729 (GRCm39) |
Y48C |
unknown |
Het |
Dach1 |
T |
A |
14: 98,077,645 (GRCm39) |
R579S |
possibly damaging |
Het |
Ddrgk1 |
A |
T |
2: 130,496,215 (GRCm39) |
I270N |
probably damaging |
Het |
Dhx32 |
A |
T |
7: 133,339,025 (GRCm39) |
C197S |
probably benign |
Het |
Dnah10 |
A |
C |
5: 124,909,590 (GRCm39) |
|
probably null |
Het |
Ecm2 |
T |
C |
13: 49,683,621 (GRCm39) |
V533A |
probably benign |
Het |
Ephb4 |
A |
T |
5: 137,361,572 (GRCm39) |
Q525L |
possibly damaging |
Het |
F2 |
T |
C |
2: 91,465,539 (GRCm39) |
D82G |
probably benign |
Het |
Fam184b |
G |
T |
5: 45,689,231 (GRCm39) |
N868K |
possibly damaging |
Het |
Fbxo25 |
A |
G |
8: 13,985,248 (GRCm39) |
T314A |
probably damaging |
Het |
Folh1 |
A |
G |
7: 86,375,114 (GRCm39) |
M624T |
possibly damaging |
Het |
Gabra5 |
G |
A |
7: 57,138,940 (GRCm39) |
R71* |
probably null |
Het |
Gmpr |
G |
T |
13: 45,696,101 (GRCm39) |
V278F |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,479,563 (GRCm39) |
C4634S |
probably damaging |
Het |
Hspa5 |
T |
C |
2: 34,664,553 (GRCm39) |
F336L |
probably damaging |
Het |
Igfbp4 |
G |
A |
11: 98,932,512 (GRCm39) |
G64R |
probably damaging |
Het |
Itch |
G |
A |
2: 155,010,666 (GRCm39) |
V45I |
probably damaging |
Het |
Itgb1 |
T |
A |
8: 129,446,938 (GRCm39) |
F484L |
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,338,997 (GRCm39) |
I2593V |
probably benign |
Het |
Kcnj8 |
T |
A |
6: 142,515,966 (GRCm39) |
H47L |
probably damaging |
Het |
Lcn2 |
T |
C |
2: 32,275,434 (GRCm39) |
T194A |
possibly damaging |
Het |
Mast4 |
A |
T |
13: 102,930,625 (GRCm39) |
V209D |
probably damaging |
Het |
Matn3 |
T |
A |
12: 9,002,041 (GRCm39) |
D84E |
probably damaging |
Het |
Mcm7 |
T |
A |
5: 138,168,637 (GRCm39) |
Q18L |
possibly damaging |
Het |
Mctp1 |
G |
A |
13: 76,533,267 (GRCm39) |
C205Y |
possibly damaging |
Het |
Megf11 |
A |
G |
9: 64,587,581 (GRCm39) |
T460A |
probably benign |
Het |
Mlh1 |
A |
T |
9: 111,086,092 (GRCm39) |
|
probably benign |
Het |
Mylk |
T |
A |
16: 34,732,600 (GRCm39) |
S627T |
probably benign |
Het |
Nat2 |
A |
G |
8: 67,954,204 (GRCm39) |
M105V |
possibly damaging |
Het |
Nav2 |
A |
G |
7: 49,197,943 (GRCm39) |
T2A |
possibly damaging |
Het |
Ndst3 |
A |
T |
3: 123,465,120 (GRCm39) |
I284N |
probably damaging |
Het |
Nfix |
A |
G |
8: 85,498,904 (GRCm39) |
V23A |
possibly damaging |
Het |
Nr2f1 |
T |
C |
13: 78,338,045 (GRCm39) |
Y200C |
probably damaging |
Het |
Or14a258 |
T |
C |
7: 86,035,769 (GRCm39) |
Y33C |
probably damaging |
Het |
Or2g25 |
T |
C |
17: 37,970,754 (GRCm39) |
I157V |
possibly damaging |
Het |
Or6b13 |
G |
A |
7: 139,782,285 (GRCm39) |
R133C |
probably damaging |
Het |
Or8d1b |
T |
C |
9: 38,887,200 (GRCm39) |
V76A |
probably benign |
Het |
Or8u8 |
T |
G |
2: 86,011,882 (GRCm39) |
D191A |
probably damaging |
Het |
Pcdhb21 |
T |
C |
18: 37,647,648 (GRCm39) |
V259A |
possibly damaging |
Het |
Phip |
A |
T |
9: 82,827,845 (GRCm39) |
V127E |
probably damaging |
Het |
Pik3r5 |
A |
G |
11: 68,383,318 (GRCm39) |
D379G |
probably damaging |
Het |
Pkdrej |
A |
T |
15: 85,704,525 (GRCm39) |
C470* |
probably null |
Het |
Plxnd1 |
A |
T |
6: 115,946,402 (GRCm39) |
|
probably null |
Het |
Polr1a |
G |
A |
6: 71,943,508 (GRCm39) |
V1248I |
probably damaging |
Het |
Pou3f2 |
A |
T |
4: 22,486,917 (GRCm39) |
C405* |
probably null |
Het |
Ppp1r3a |
A |
T |
6: 14,718,404 (GRCm39) |
S837T |
probably damaging |
Het |
Rest |
T |
A |
5: 77,428,745 (GRCm39) |
V388E |
probably damaging |
Het |
Rnft2 |
A |
T |
5: 118,370,540 (GRCm39) |
W220R |
probably damaging |
Het |
Rnpc3 |
A |
T |
3: 113,415,559 (GRCm39) |
Y107* |
probably null |
Het |
Senp8 |
G |
A |
9: 59,644,835 (GRCm39) |
S94F |
probably damaging |
Het |
Ski |
A |
G |
4: 155,306,698 (GRCm39) |
S94P |
possibly damaging |
Het |
Skint8 |
A |
G |
4: 111,794,192 (GRCm39) |
D194G |
probably damaging |
Het |
Slc35c2 |
C |
A |
2: 165,120,303 (GRCm39) |
R232L |
probably benign |
Het |
Slc43a3 |
T |
A |
2: 84,777,245 (GRCm39) |
V198D |
possibly damaging |
Het |
Slc8b1 |
A |
T |
5: 120,667,717 (GRCm39) |
N467I |
probably damaging |
Het |
Srbd1 |
A |
G |
17: 86,422,732 (GRCm39) |
|
probably benign |
Het |
Sstr3 |
T |
C |
15: 78,424,168 (GRCm39) |
H193R |
probably damaging |
Het |
Sv2c |
A |
C |
13: 96,113,283 (GRCm39) |
S555R |
probably benign |
Het |
Tagln3 |
A |
G |
16: 45,532,013 (GRCm39) |
V173A |
possibly damaging |
Het |
Tctn2 |
C |
A |
5: 124,757,143 (GRCm39) |
|
noncoding transcript |
Het |
Tfap2a |
G |
T |
13: 40,881,884 (GRCm39) |
H167Q |
probably damaging |
Het |
Tmem213 |
A |
G |
6: 38,086,487 (GRCm39) |
T48A |
possibly damaging |
Het |
Tmem30c |
A |
G |
16: 57,090,352 (GRCm39) |
|
probably benign |
Het |
Tmem37 |
A |
G |
1: 119,995,952 (GRCm39) |
S42P |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,922,431 (GRCm39) |
Q2415* |
probably null |
Het |
Ttyh1 |
T |
C |
7: 4,122,730 (GRCm39) |
L26P |
probably damaging |
Het |
Ubn2 |
T |
A |
6: 38,417,425 (GRCm39) |
D154E |
possibly damaging |
Het |
Vdac3 |
A |
T |
8: 23,070,553 (GRCm39) |
Y119* |
probably null |
Het |
Vmn2r58 |
T |
C |
7: 41,486,682 (GRCm39) |
I738V |
possibly damaging |
Het |
Zfp704 |
A |
G |
3: 9,539,551 (GRCm39) |
|
probably benign |
Het |
Znfx1 |
G |
A |
2: 166,880,729 (GRCm39) |
R352W |
probably damaging |
Het |
|
Other mutations in Eif4g1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00584:Eif4g1
|
APN |
16 |
20,505,504 (GRCm39) |
intron |
probably benign |
|
IGL00707:Eif4g1
|
APN |
16 |
20,507,764 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00950:Eif4g1
|
APN |
16 |
20,502,378 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01397:Eif4g1
|
APN |
16 |
20,498,425 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01657:Eif4g1
|
APN |
16 |
20,500,966 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01875:Eif4g1
|
APN |
16 |
20,499,790 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02728:Eif4g1
|
APN |
16 |
20,505,502 (GRCm39) |
intron |
probably benign |
|
IGL03155:Eif4g1
|
APN |
16 |
20,511,167 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03339:Eif4g1
|
APN |
16 |
20,499,734 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0032:Eif4g1
|
UTSW |
16 |
20,504,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R0032:Eif4g1
|
UTSW |
16 |
20,504,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R0138:Eif4g1
|
UTSW |
16 |
20,494,095 (GRCm39) |
missense |
probably damaging |
0.99 |
R0556:Eif4g1
|
UTSW |
16 |
20,494,544 (GRCm39) |
missense |
probably damaging |
0.99 |
R0576:Eif4g1
|
UTSW |
16 |
20,502,818 (GRCm39) |
missense |
probably damaging |
0.98 |
R1424:Eif4g1
|
UTSW |
16 |
20,497,692 (GRCm39) |
missense |
probably benign |
0.03 |
R1469:Eif4g1
|
UTSW |
16 |
20,498,758 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1469:Eif4g1
|
UTSW |
16 |
20,498,758 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1487:Eif4g1
|
UTSW |
16 |
20,497,623 (GRCm39) |
unclassified |
probably benign |
|
R1659:Eif4g1
|
UTSW |
16 |
20,499,811 (GRCm39) |
missense |
probably damaging |
0.99 |
R1697:Eif4g1
|
UTSW |
16 |
20,498,530 (GRCm39) |
missense |
probably damaging |
0.99 |
R1848:Eif4g1
|
UTSW |
16 |
20,500,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R1855:Eif4g1
|
UTSW |
16 |
20,505,911 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3001:Eif4g1
|
UTSW |
16 |
20,511,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R3002:Eif4g1
|
UTSW |
16 |
20,511,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R4402:Eif4g1
|
UTSW |
16 |
20,497,593 (GRCm39) |
unclassified |
probably benign |
|
R4477:Eif4g1
|
UTSW |
16 |
20,497,593 (GRCm39) |
unclassified |
probably benign |
|
R4478:Eif4g1
|
UTSW |
16 |
20,497,593 (GRCm39) |
unclassified |
probably benign |
|
R4479:Eif4g1
|
UTSW |
16 |
20,497,593 (GRCm39) |
unclassified |
probably benign |
|
R4480:Eif4g1
|
UTSW |
16 |
20,497,593 (GRCm39) |
unclassified |
probably benign |
|
R4623:Eif4g1
|
UTSW |
16 |
20,500,095 (GRCm39) |
unclassified |
probably benign |
|
R4658:Eif4g1
|
UTSW |
16 |
20,504,684 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4751:Eif4g1
|
UTSW |
16 |
20,505,265 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4859:Eif4g1
|
UTSW |
16 |
20,500,923 (GRCm39) |
missense |
probably benign |
0.44 |
R5267:Eif4g1
|
UTSW |
16 |
20,504,283 (GRCm39) |
missense |
probably damaging |
0.99 |
R5376:Eif4g1
|
UTSW |
16 |
20,502,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R5560:Eif4g1
|
UTSW |
16 |
20,505,645 (GRCm39) |
missense |
probably benign |
|
R5719:Eif4g1
|
UTSW |
16 |
20,507,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R6632:Eif4g1
|
UTSW |
16 |
20,504,270 (GRCm39) |
missense |
probably damaging |
0.99 |
R6849:Eif4g1
|
UTSW |
16 |
20,499,495 (GRCm39) |
missense |
probably benign |
0.08 |
R7134:Eif4g1
|
UTSW |
16 |
20,500,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R7793:Eif4g1
|
UTSW |
16 |
20,507,364 (GRCm39) |
missense |
probably benign |
0.00 |
R7861:Eif4g1
|
UTSW |
16 |
20,498,452 (GRCm39) |
missense |
probably benign |
|
R8309:Eif4g1
|
UTSW |
16 |
20,507,578 (GRCm39) |
missense |
probably benign |
0.19 |
R8365:Eif4g1
|
UTSW |
16 |
20,502,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R8726:Eif4g1
|
UTSW |
16 |
20,494,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R8778:Eif4g1
|
UTSW |
16 |
20,492,196 (GRCm39) |
intron |
probably benign |
|
R9604:Eif4g1
|
UTSW |
16 |
20,500,255 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9658:Eif4g1
|
UTSW |
16 |
20,502,863 (GRCm39) |
missense |
probably benign |
0.01 |
R9779:Eif4g1
|
UTSW |
16 |
20,498,251 (GRCm39) |
missense |
probably damaging |
0.97 |
X0062:Eif4g1
|
UTSW |
16 |
20,503,251 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Eif4g1
|
UTSW |
16 |
20,501,476 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Eif4g1
|
UTSW |
16 |
20,492,158 (GRCm39) |
intron |
probably benign |
|
Z1177:Eif4g1
|
UTSW |
16 |
20,505,116 (GRCm39) |
frame shift |
probably null |
|
Z1177:Eif4g1
|
UTSW |
16 |
20,502,655 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTCATGGGGTTTCTGGC -3'
(R):5'- TGAAGAGTTCCACACCCTTC -3'
Sequencing Primer
(F):5'- GGTTTCTGGCACCCACC -3'
(R):5'- AAGAGTTCCACACCCTTCTCTACTAG -3'
|
Posted On |
2014-06-30 |