Incidental Mutation 'IGL03108:Eif3a'
ID |
419070 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eif3a
|
Ensembl Gene |
ENSMUSG00000024991 |
Gene Name |
eukaryotic translation initiation factor 3, subunit A |
Synonyms |
Eif3, Csma, Eif3s10, A830012B05Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
IGL03108
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
60749555-60779096 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 60770747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 33
(D33E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025955]
|
AlphaFold |
P23116 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025955
AA Change: D33E
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000025955 Gene: ENSMUSG00000024991 AA Change: D33E
Domain | Start | End | E-Value | Type |
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
PINT
|
426 |
506 |
5.69e-18 |
SMART |
SCOP:d1f5aa2
|
563 |
711 |
5e-3 |
SMART |
coiled coil region
|
772 |
880 |
N/A |
INTRINSIC |
low complexity region
|
919 |
947 |
N/A |
INTRINSIC |
low complexity region
|
951 |
976 |
N/A |
INTRINSIC |
internal_repeat_2
|
978 |
991 |
1.01e-8 |
PROSPERO |
low complexity region
|
993 |
1007 |
N/A |
INTRINSIC |
low complexity region
|
1013 |
1027 |
N/A |
INTRINSIC |
low complexity region
|
1033 |
1057 |
N/A |
INTRINSIC |
low complexity region
|
1064 |
1089 |
N/A |
INTRINSIC |
internal_repeat_1
|
1090 |
1111 |
6.2e-12 |
PROSPERO |
internal_repeat_2
|
1099 |
1112 |
1.01e-8 |
PROSPERO |
internal_repeat_1
|
1110 |
1131 |
6.2e-12 |
PROSPERO |
low complexity region
|
1146 |
1173 |
N/A |
INTRINSIC |
low complexity region
|
1176 |
1206 |
N/A |
INTRINSIC |
low complexity region
|
1221 |
1260 |
N/A |
INTRINSIC |
low complexity region
|
1265 |
1297 |
N/A |
INTRINSIC |
low complexity region
|
1301 |
1314 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(36) : Targeted, other(2) Gene trapped(34) |
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
A |
13: 81,707,648 (GRCm39) |
V1253F |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,557,574 (GRCm39) |
W296R |
probably damaging |
Het |
Armh3 |
G |
A |
19: 45,808,792 (GRCm39) |
T633I |
probably damaging |
Het |
Btbd3 |
T |
C |
2: 138,126,043 (GRCm39) |
V409A |
possibly damaging |
Het |
C130050O18Rik |
A |
T |
5: 139,400,820 (GRCm39) |
D291V |
probably damaging |
Het |
Catsper3 |
A |
G |
13: 55,955,848 (GRCm39) |
N318D |
probably benign |
Het |
Chd1 |
T |
A |
17: 15,945,543 (GRCm39) |
D22E |
possibly damaging |
Het |
Chrnb2 |
G |
A |
3: 89,670,681 (GRCm39) |
|
probably benign |
Het |
Col24a1 |
G |
A |
3: 145,029,162 (GRCm39) |
G550D |
probably damaging |
Het |
Cryl1 |
T |
C |
14: 57,550,534 (GRCm39) |
D110G |
probably damaging |
Het |
Deaf1 |
A |
G |
7: 140,902,874 (GRCm39) |
I150T |
probably damaging |
Het |
Fabp12 |
C |
A |
3: 10,315,114 (GRCm39) |
G78C |
probably benign |
Het |
Fat1 |
A |
G |
8: 45,476,651 (GRCm39) |
D1899G |
probably damaging |
Het |
Galnt13 |
G |
A |
2: 54,744,660 (GRCm39) |
V120I |
probably benign |
Het |
Ganab |
G |
A |
19: 8,889,840 (GRCm39) |
A635T |
probably damaging |
Het |
Gm17509 |
G |
A |
13: 117,357,380 (GRCm39) |
|
probably benign |
Het |
Gstm3 |
A |
T |
3: 107,875,080 (GRCm39) |
|
probably null |
Het |
Hfm1 |
T |
A |
5: 107,043,800 (GRCm39) |
|
probably benign |
Het |
Hoxd13 |
A |
C |
2: 74,500,440 (GRCm39) |
D327A |
probably damaging |
Het |
Ints4 |
G |
T |
7: 97,140,137 (GRCm39) |
|
probably null |
Het |
Kcna10 |
A |
T |
3: 107,102,259 (GRCm39) |
T297S |
probably benign |
Het |
Ldb2 |
G |
A |
5: 44,699,057 (GRCm39) |
T127I |
probably damaging |
Het |
Mapk7 |
T |
C |
11: 61,382,498 (GRCm39) |
D68G |
probably damaging |
Het |
Msh3 |
A |
T |
13: 92,357,596 (GRCm39) |
|
probably benign |
Het |
Muc6 |
A |
G |
7: 141,217,402 (GRCm39) |
S2359P |
possibly damaging |
Het |
Mup6 |
A |
T |
4: 60,005,990 (GRCm39) |
I161F |
possibly damaging |
Het |
Nup160 |
G |
A |
2: 90,534,169 (GRCm39) |
V665I |
probably benign |
Het |
Or13a22 |
A |
G |
7: 140,073,034 (GRCm39) |
N161S |
possibly damaging |
Het |
Or14a258 |
T |
C |
7: 86,034,929 (GRCm39) |
Y313C |
possibly damaging |
Het |
Or4e5 |
T |
A |
14: 52,727,533 (GRCm39) |
D296V |
probably damaging |
Het |
Otog |
G |
A |
7: 45,900,762 (GRCm39) |
V352I |
probably damaging |
Het |
Oxct1 |
T |
A |
15: 4,064,764 (GRCm39) |
V34D |
probably benign |
Het |
Pcdhb21 |
T |
A |
18: 37,648,944 (GRCm39) |
|
probably null |
Het |
Pcdhb8 |
T |
G |
18: 37,490,299 (GRCm39) |
V659G |
probably damaging |
Het |
Plxnb2 |
T |
C |
15: 89,042,234 (GRCm39) |
N1590S |
probably benign |
Het |
Rnf168 |
G |
T |
16: 32,097,099 (GRCm39) |
R56L |
possibly damaging |
Het |
Scn8a |
C |
T |
15: 100,872,496 (GRCm39) |
P362S |
probably benign |
Het |
Slc1a3 |
T |
A |
15: 8,668,562 (GRCm39) |
I468F |
probably damaging |
Het |
Slc39a14 |
G |
A |
14: 70,556,368 (GRCm39) |
R3W |
probably damaging |
Het |
Slc7a6 |
T |
A |
8: 106,921,149 (GRCm39) |
N373K |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,080,087 (GRCm39) |
S1955P |
possibly damaging |
Het |
Stat5a |
T |
A |
11: 100,753,965 (GRCm39) |
Y98* |
probably null |
Het |
Thsd7b |
G |
T |
1: 130,138,013 (GRCm39) |
G1564C |
probably damaging |
Het |
Zc3h13 |
T |
C |
14: 75,569,206 (GRCm39) |
V1351A |
possibly damaging |
Het |
|
Other mutations in Eif3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00485:Eif3a
|
APN |
19 |
60,758,328 (GRCm39) |
missense |
unknown |
|
IGL00981:Eif3a
|
APN |
19 |
60,755,049 (GRCm39) |
missense |
unknown |
|
IGL01650:Eif3a
|
APN |
19 |
60,762,434 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01926:Eif3a
|
APN |
19 |
60,758,399 (GRCm39) |
missense |
unknown |
|
IGL02100:Eif3a
|
APN |
19 |
60,755,442 (GRCm39) |
splice site |
probably benign |
|
IGL02316:Eif3a
|
APN |
19 |
60,760,076 (GRCm39) |
splice site |
probably benign |
|
IGL02444:Eif3a
|
APN |
19 |
60,762,045 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02552:Eif3a
|
APN |
19 |
60,751,664 (GRCm39) |
unclassified |
probably benign |
|
IGL02797:Eif3a
|
APN |
19 |
60,761,164 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Eif3a
|
UTSW |
19 |
60,763,728 (GRCm39) |
critical splice donor site |
probably benign |
|
FR4548:Eif3a
|
UTSW |
19 |
60,763,729 (GRCm39) |
critical splice donor site |
probably benign |
|
FR4737:Eif3a
|
UTSW |
19 |
60,763,727 (GRCm39) |
critical splice donor site |
probably benign |
|
FR4976:Eif3a
|
UTSW |
19 |
60,763,729 (GRCm39) |
critical splice donor site |
probably benign |
|
G5538:Eif3a
|
UTSW |
19 |
60,770,340 (GRCm39) |
missense |
probably damaging |
0.97 |
R0054:Eif3a
|
UTSW |
19 |
60,755,264 (GRCm39) |
missense |
unknown |
|
R0054:Eif3a
|
UTSW |
19 |
60,755,264 (GRCm39) |
missense |
unknown |
|
R1483:Eif3a
|
UTSW |
19 |
60,757,164 (GRCm39) |
missense |
unknown |
|
R1636:Eif3a
|
UTSW |
19 |
60,770,343 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1748:Eif3a
|
UTSW |
19 |
60,755,236 (GRCm39) |
missense |
unknown |
|
R1857:Eif3a
|
UTSW |
19 |
60,770,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R1858:Eif3a
|
UTSW |
19 |
60,770,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Eif3a
|
UTSW |
19 |
60,769,954 (GRCm39) |
missense |
probably benign |
0.19 |
R2034:Eif3a
|
UTSW |
19 |
60,750,568 (GRCm39) |
unclassified |
probably benign |
|
R2099:Eif3a
|
UTSW |
19 |
60,752,551 (GRCm39) |
unclassified |
probably benign |
|
R2140:Eif3a
|
UTSW |
19 |
60,763,832 (GRCm39) |
splice site |
probably benign |
|
R2434:Eif3a
|
UTSW |
19 |
60,752,488 (GRCm39) |
unclassified |
probably benign |
|
R2940:Eif3a
|
UTSW |
19 |
60,762,115 (GRCm39) |
missense |
probably benign |
0.22 |
R4630:Eif3a
|
UTSW |
19 |
60,766,424 (GRCm39) |
missense |
probably benign |
0.41 |
R4630:Eif3a
|
UTSW |
19 |
60,758,366 (GRCm39) |
missense |
unknown |
|
R4926:Eif3a
|
UTSW |
19 |
60,751,656 (GRCm39) |
unclassified |
probably benign |
|
R5366:Eif3a
|
UTSW |
19 |
60,767,971 (GRCm39) |
missense |
probably benign |
0.12 |
R6003:Eif3a
|
UTSW |
19 |
60,755,319 (GRCm39) |
missense |
unknown |
|
R6082:Eif3a
|
UTSW |
19 |
60,760,568 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6256:Eif3a
|
UTSW |
19 |
60,759,464 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7056:Eif3a
|
UTSW |
19 |
60,751,500 (GRCm39) |
splice site |
probably null |
|
R7365:Eif3a
|
UTSW |
19 |
60,755,082 (GRCm39) |
missense |
unknown |
|
R7922:Eif3a
|
UTSW |
19 |
60,764,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R8076:Eif3a
|
UTSW |
19 |
60,762,363 (GRCm39) |
missense |
probably damaging |
0.97 |
R8169:Eif3a
|
UTSW |
19 |
60,750,628 (GRCm39) |
missense |
unknown |
|
R8246:Eif3a
|
UTSW |
19 |
60,767,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R8474:Eif3a
|
UTSW |
19 |
60,767,929 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8546:Eif3a
|
UTSW |
19 |
60,755,208 (GRCm39) |
missense |
unknown |
|
R8964:Eif3a
|
UTSW |
19 |
60,751,630 (GRCm39) |
missense |
unknown |
|
R9071:Eif3a
|
UTSW |
19 |
60,751,634 (GRCm39) |
missense |
unknown |
|
R9290:Eif3a
|
UTSW |
19 |
60,765,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R9484:Eif3a
|
UTSW |
19 |
60,755,006 (GRCm39) |
missense |
unknown |
|
R9780:Eif3a
|
UTSW |
19 |
60,766,398 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Eif3a
|
UTSW |
19 |
60,770,340 (GRCm39) |
missense |
probably damaging |
0.97 |
X0066:Eif3a
|
UTSW |
19 |
60,750,731 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2016-08-02 |