Incidental Mutation 'R1697:Eif4g1'
| ID |
192360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif4g1
|
| Ensembl Gene |
ENSMUSG00000045983 |
| Gene Name |
eukaryotic translation initiation factor 4, gamma 1 |
| Synonyms |
E030015G23Rik |
| MMRRC Submission |
039730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R1697 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
20668313-20692884 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20679780 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 422
(V422A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044783]
[ENSMUST00000073840]
[ENSMUST00000115457]
[ENSMUST00000115460]
[ENSMUST00000115461]
[ENSMUST00000115463]
[ENSMUST00000128594]
[ENSMUST00000128840]
[ENSMUST00000136713]
[ENSMUST00000143939]
[ENSMUST00000150333]
[ENSMUST00000142344]
[ENSMUST00000156226]
[ENSMUST00000140576]
[ENSMUST00000154950]
[ENSMUST00000151679]
[ENSMUST00000231618]
[ENSMUST00000154594]
[ENSMUST00000141034]
|
| AlphaFold |
Q6NZJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044783
AA Change: V429A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047678
Gene: ENSMUSG00000045983
AA Change: V429A
| 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: V422A
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073506
Gene: ENSMUSG00000045983
AA Change: V422A
| 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 |
noncoding transcript
Transcript: ENSMUST00000104051
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115457
AA Change: V382A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111117
Gene: ENSMUSG00000045983
AA Change: V382A
| 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: V429A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111120
Gene: ENSMUSG00000045983
AA Change: V429A
| 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: V422A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111121
Gene: ENSMUSG00000045983
AA Change: V422A
| 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: V422A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111123
Gene: ENSMUSG00000045983
AA Change: V422A
| 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 |
probably damaging
Transcript: ENSMUST00000128594
AA Change: V258A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144594
Gene: ENSMUSG00000045983
AA Change: V258A
| 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 |
probably benign
Transcript: ENSMUST00000128840
|
| SMART Domains |
Protein: ENSMUSP00000143861
Gene: ENSMUSG00000045983
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1LJ2|D
|
85 |
112 |
5e-13 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136713
|
| SMART Domains |
Protein: ENSMUSP00000143999
Gene: ENSMUSG00000045983
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1LJ2|D
|
85 |
112 |
3e-13 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143939
AA Change: V132A
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144320
Gene: ENSMUSG00000045983
AA Change: V132A
| 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 |
possibly damaging
Transcript: ENSMUST00000150333
AA Change: V363A
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144107
Gene: ENSMUSG00000045983
AA Change: V363A
| 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 |
probably damaging
Transcript: ENSMUST00000142344
AA Change: V422A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116029
Gene: ENSMUSG00000045983
AA Change: V422A
| 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 |
noncoding transcript
Transcript: ENSMUST00000137690
|
| 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: ENSMUST00000231598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231477
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140576
|
| SMART Domains |
Protein: ENSMUSP00000117587
Gene: ENSMUSG00000045983
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
41 |
N/A |
INTRINSIC |
|
PDB:1LJ2|D
|
129 |
156 |
3e-12 |
PDB |
|
| 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: ENSMUST00000151679
|
| SMART Domains |
Protein: ENSMUSP00000120698
Gene: ENSMUSG00000045983
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
34 |
N/A |
INTRINSIC |
|
PDB:1LJ2|D
|
132 |
159 |
8e-13 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231618
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154594
|
| SMART Domains |
Protein: ENSMUSP00000144233
Gene: ENSMUSG00000045983
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1LJ2|D
|
8 |
35 |
3e-12 |
PDB |
|
low complexity region
|
89 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141034
|
| SMART Domains |
Protein: ENSMUSP00000120035
Gene: ENSMUSG00000045983
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
81 |
N/A |
INTRINSIC |
|
PDB:4F02|F
|
175 |
200 |
4e-11 |
PDB |
|
| Meta Mutation Damage Score |
0.0635 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
99% (67/68) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 60,845,114 |
D250E |
probably damaging |
Het |
| 4930571K23Rik |
A |
G |
7: 125,369,029 |
|
noncoding transcript |
Het |
| 9530053A07Rik |
T |
A |
7: 28,154,347 |
C1579S |
probably damaging |
Het |
| Acsl3 |
T |
C |
1: 78,705,397 |
|
probably benign |
Het |
| Acsl6 |
C |
A |
11: 54,329,966 |
T244K |
probably damaging |
Het |
| Adam26b |
T |
A |
8: 43,520,963 |
N334I |
probably damaging |
Het |
| Adgrl4 |
C |
T |
3: 151,517,611 |
T608M |
probably damaging |
Het |
| Aldh2 |
A |
G |
5: 121,578,341 |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,622,454 |
T1890A |
possibly damaging |
Het |
| C87977 |
A |
C |
4: 144,208,592 |
I193S |
probably damaging |
Het |
| Capn7 |
C |
T |
14: 31,360,160 |
T441M |
probably damaging |
Het |
| Cd9 |
A |
T |
6: 125,464,404 |
C85S |
probably damaging |
Het |
| Chrm3 |
T |
C |
13: 9,878,758 |
T81A |
probably damaging |
Het |
| Ctif |
A |
G |
18: 75,624,305 |
|
probably benign |
Het |
| Dcc |
T |
A |
18: 71,370,737 |
D950V |
probably damaging |
Het |
| Enthd1 |
A |
G |
15: 80,452,923 |
S437P |
probably damaging |
Het |
| Fads1 |
A |
G |
19: 10,194,100 |
|
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,944,880 |
I3869L |
probably benign |
Het |
| Fbxw5 |
T |
A |
2: 25,502,461 |
V85E |
possibly damaging |
Het |
| Fem1b |
T |
C |
9: 62,797,174 |
D268G |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,408,988 |
L1772P |
probably damaging |
Het |
| Gm9573 |
A |
C |
17: 35,620,648 |
|
probably benign |
Het |
| Gm9833 |
G |
A |
3: 10,089,553 |
V461I |
possibly damaging |
Het |
| Gtf3a |
C |
A |
5: 146,951,913 |
Q145K |
possibly damaging |
Het |
| Hacl1 |
T |
C |
14: 31,621,000 |
|
probably null |
Het |
| Herc2 |
T |
A |
7: 56,153,905 |
F2229L |
probably benign |
Het |
| Hs3st4 |
A |
T |
7: 124,396,857 |
I249L |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,809,770 |
Y7* |
probably null |
Het |
| Klk1b1 |
T |
A |
7: 43,970,326 |
M103K |
probably benign |
Het |
| Krt5 |
A |
G |
15: 101,710,585 |
V287A |
probably benign |
Het |
| Lgals12 |
T |
A |
19: 7,604,165 |
Q59L |
possibly damaging |
Het |
| Loxl4 |
A |
G |
19: 42,604,940 |
V264A |
possibly damaging |
Het |
| Lrmp |
A |
G |
6: 145,137,615 |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,822,683 |
D3099G |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 121,007,408 |
T169I |
possibly damaging |
Het |
| Myh7b |
A |
C |
2: 155,620,134 |
S317R |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,245,813 |
I210N |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,214,059 |
|
probably null |
Het |
| Nupl1 |
A |
T |
14: 60,244,670 |
|
probably benign |
Het |
| Olfr152 |
T |
A |
2: 87,782,585 |
I15N |
possibly damaging |
Het |
| Olfr190 |
A |
G |
16: 59,074,907 |
Y58H |
probably damaging |
Het |
| Olfr331 |
A |
T |
11: 58,501,676 |
S293R |
probably damaging |
Het |
| Olfr346 |
C |
T |
2: 36,688,247 |
L82F |
probably damaging |
Het |
| Olfr769 |
T |
C |
10: 129,111,868 |
T186A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 125,850,348 |
Y982H |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,702,225 |
L312P |
probably damaging |
Het |
| Plekhm1 |
G |
A |
11: 103,376,884 |
P754S |
probably damaging |
Het |
| Ppp2r5c |
T |
A |
12: 110,545,623 |
L145* |
probably null |
Het |
| Ppp2r5c |
T |
A |
12: 110,561,472 |
|
probably benign |
Het |
| Proser3 |
T |
C |
7: 30,540,021 |
M553V |
probably benign |
Het |
| Shf |
G |
A |
2: 122,368,682 |
P51S |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,824,688 |
D664E |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,996,565 |
A99T |
probably benign |
Het |
| Stim1 |
T |
G |
7: 102,354,506 |
C49G |
probably damaging |
Het |
| Stk32c |
T |
C |
7: 139,121,824 |
I238V |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,063,177 |
G1236R |
possibly damaging |
Het |
| Tfb2m |
T |
A |
1: 179,544,899 |
E133V |
probably null |
Het |
| Tmem209 |
A |
T |
6: 30,497,868 |
C143S |
probably benign |
Het |
| Tnr |
T |
G |
1: 159,852,030 |
N191K |
probably benign |
Het |
| Vars |
C |
T |
17: 34,998,222 |
A419T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,548,060 |
S819G |
probably benign |
Het |
| Wls |
T |
C |
3: 159,897,358 |
V136A |
probably benign |
Het |
| Ybx2 |
C |
T |
11: 69,940,061 |
S217L |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 30,057,354 |
D37G |
probably benign |
Het |
|
| Other mutations in Eif4g1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00584:Eif4g1
|
APN |
16 |
20686754 |
intron |
probably benign |
|
|
IGL00707:Eif4g1
|
APN |
16 |
20689014 |
missense |
probably damaging |
1.00 |
|
IGL00950:Eif4g1
|
APN |
16 |
20683628 |
missense |
probably damaging |
1.00 |
|
IGL01397:Eif4g1
|
APN |
16 |
20679675 |
missense |
probably damaging |
0.98 |
|
IGL01657:Eif4g1
|
APN |
16 |
20682216 |
missense |
possibly damaging |
0.94 |
|
IGL01875:Eif4g1
|
APN |
16 |
20681040 |
missense |
probably damaging |
0.96 |
|
IGL02728:Eif4g1
|
APN |
16 |
20686752 |
intron |
probably benign |
|
|
IGL03155:Eif4g1
|
APN |
16 |
20692417 |
missense |
probably damaging |
1.00 |
|
IGL03339:Eif4g1
|
APN |
16 |
20680984 |
missense |
possibly damaging |
0.72 |
|
R0032:Eif4g1
|
UTSW |
16 |
20685898 |
missense |
probably damaging |
1.00 |
|
R0032:Eif4g1
|
UTSW |
16 |
20685898 |
missense |
probably damaging |
1.00 |
|
R0138:Eif4g1
|
UTSW |
16 |
20675345 |
missense |
probably damaging |
0.99 |
|
R0556:Eif4g1
|
UTSW |
16 |
20675794 |
missense |
probably damaging |
0.99 |
|
R0576:Eif4g1
|
UTSW |
16 |
20684068 |
missense |
probably damaging |
0.98 |
|
R1424:Eif4g1
|
UTSW |
16 |
20678942 |
missense |
probably benign |
0.03 |
|
R1469:Eif4g1
|
UTSW |
16 |
20680008 |
missense |
possibly damaging |
0.86 |
|
R1469:Eif4g1
|
UTSW |
16 |
20680008 |
missense |
possibly damaging |
0.86 |
|
R1487:Eif4g1
|
UTSW |
16 |
20678873 |
unclassified |
probably benign |
|
|
R1659:Eif4g1
|
UTSW |
16 |
20681061 |
missense |
probably damaging |
0.99 |
|
R1848:Eif4g1
|
UTSW |
16 |
20681867 |
missense |
probably damaging |
1.00 |
|
R1855:Eif4g1
|
UTSW |
16 |
20687161 |
missense |
possibly damaging |
0.77 |
|
R1865:Eif4g1
|
UTSW |
16 |
20678648 |
missense |
probably damaging |
0.99 |
|
R3001:Eif4g1
|
UTSW |
16 |
20692384 |
missense |
probably damaging |
1.00 |
|
R3002:Eif4g1
|
UTSW |
16 |
20692384 |
missense |
probably damaging |
1.00 |
|
R4402:Eif4g1
|
UTSW |
16 |
20678843 |
unclassified |
probably benign |
|
|
R4477:Eif4g1
|
UTSW |
16 |
20678843 |
unclassified |
probably benign |
|
|
R4478:Eif4g1
|
UTSW |
16 |
20678843 |
unclassified |
probably benign |
|
|
R4479:Eif4g1
|
UTSW |
16 |
20678843 |
unclassified |
probably benign |
|
|
R4480:Eif4g1
|
UTSW |
16 |
20678843 |
unclassified |
probably benign |
|
|
R4623:Eif4g1
|
UTSW |
16 |
20681345 |
unclassified |
probably benign |
|
|
R4658:Eif4g1
|
UTSW |
16 |
20685934 |
missense |
possibly damaging |
0.78 |
|
R4751:Eif4g1
|
UTSW |
16 |
20686515 |
missense |
possibly damaging |
0.89 |
|
R4859:Eif4g1
|
UTSW |
16 |
20682173 |
missense |
probably benign |
0.44 |
|
R5267:Eif4g1
|
UTSW |
16 |
20685533 |
missense |
probably damaging |
0.99 |
|
R5376:Eif4g1
|
UTSW |
16 |
20683827 |
missense |
probably damaging |
1.00 |
|
R5560:Eif4g1
|
UTSW |
16 |
20686895 |
missense |
probably benign |
|
|
R5719:Eif4g1
|
UTSW |
16 |
20689011 |
missense |
probably damaging |
1.00 |
|
R6632:Eif4g1
|
UTSW |
16 |
20685520 |
missense |
probably damaging |
0.99 |
|
R6849:Eif4g1
|
UTSW |
16 |
20680745 |
missense |
probably benign |
0.08 |
|
R7134:Eif4g1
|
UTSW |
16 |
20681502 |
missense |
probably damaging |
1.00 |
|
R7793:Eif4g1
|
UTSW |
16 |
20688614 |
missense |
probably benign |
0.00 |
|
R7861:Eif4g1
|
UTSW |
16 |
20679702 |
missense |
probably benign |
|
|
R8309:Eif4g1
|
UTSW |
16 |
20688828 |
missense |
probably benign |
0.19 |
|
R8365:Eif4g1
|
UTSW |
16 |
20683527 |
missense |
probably damaging |
1.00 |
|
R8726:Eif4g1
|
UTSW |
16 |
20675482 |
missense |
probably damaging |
1.00 |
|
R8778:Eif4g1
|
UTSW |
16 |
20673446 |
intron |
probably benign |
|
|
R9604:Eif4g1
|
UTSW |
16 |
20681505 |
missense |
possibly damaging |
0.90 |
|
R9658:Eif4g1
|
UTSW |
16 |
20684113 |
missense |
probably benign |
0.01 |
|
R9779:Eif4g1
|
UTSW |
16 |
20679501 |
missense |
probably damaging |
0.97 |
|
X0062:Eif4g1
|
UTSW |
16 |
20684501 |
missense |
probably damaging |
1.00 |
|
X0065:Eif4g1
|
UTSW |
16 |
20682726 |
missense |
probably damaging |
1.00 |
|
Z1176:Eif4g1
|
UTSW |
16 |
20673408 |
intron |
probably benign |
|
|
Z1177:Eif4g1
|
UTSW |
16 |
20683905 |
missense |
probably benign |
0.06 |
|
Z1177:Eif4g1
|
UTSW |
16 |
20686366 |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGCCTCACAAGGTTGAAACTC -3'
(R):5'- AGCTGCTGCCACCTCTAAATTCTG -3'
Sequencing Primer
(F):5'- ATGAGCCCAATGGCGTG -3'
(R):5'- TGCCACCTCTAAATTCTGAGACAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation