Incidental Mutation 'IGL02100:Eif3a'
| ID |
279725 |
| 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 # |
IGL02100
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
60749555-60779096 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 60755442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025955]
|
| AlphaFold |
P23116 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025955
|
| SMART Domains |
Protein: ENSMUSP00000025955
Gene: ENSMUSG00000024991
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
T |
3: 36,136,029 (GRCm39) |
Q347L |
probably null |
Het |
| Acvr2a |
T |
C |
2: 48,788,630 (GRCm39) |
|
probably benign |
Het |
| Ankrd28 |
T |
C |
14: 31,449,582 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,735,426 (GRCm39) |
Y498C |
probably damaging |
Het |
| Cdh3 |
G |
A |
8: 107,270,322 (GRCm39) |
V400I |
probably benign |
Het |
| Chrnb1 |
G |
T |
11: 69,684,281 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
A |
G |
6: 4,524,177 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
A |
G |
4: 96,124,793 (GRCm39) |
L35P |
probably damaging |
Het |
| Dennd2c |
G |
A |
3: 103,060,991 (GRCm39) |
S561N |
probably damaging |
Het |
| Dennd4a |
A |
T |
9: 64,816,988 (GRCm39) |
|
probably benign |
Het |
| Dnai4 |
A |
G |
4: 102,907,346 (GRCm39) |
C647R |
probably damaging |
Het |
| Dynll1 |
A |
C |
5: 115,436,852 (GRCm39) |
V58G |
probably damaging |
Het |
| Ercc6 |
T |
C |
14: 32,239,052 (GRCm39) |
S47P |
probably benign |
Het |
| Fam76b |
A |
G |
9: 13,755,416 (GRCm39) |
|
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,269,941 (GRCm39) |
|
probably benign |
Het |
| Gdi2 |
T |
C |
13: 3,606,373 (GRCm39) |
F140L |
probably benign |
Het |
| Gm28043 |
T |
C |
17: 29,910,400 (GRCm39) |
|
probably null |
Het |
| Gm5117 |
T |
A |
8: 32,227,412 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm6 |
G |
T |
3: 107,849,653 (GRCm39) |
N85K |
probably benign |
Het |
| Hip1r |
C |
T |
5: 124,137,006 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,839,706 (GRCm39) |
I671T |
probably benign |
Het |
| Insrr |
T |
G |
3: 87,718,927 (GRCm39) |
F961C |
probably damaging |
Het |
| Kbtbd8 |
T |
C |
6: 95,099,663 (GRCm39) |
Y314H |
probably damaging |
Het |
| Kif26b |
C |
A |
1: 178,743,512 (GRCm39) |
L756I |
probably damaging |
Het |
| Lcor |
G |
A |
19: 41,547,193 (GRCm39) |
R259Q |
possibly damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,129,689 (GRCm39) |
S449C |
probably damaging |
Het |
| Map1a |
T |
G |
2: 121,133,327 (GRCm39) |
L1381R |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,715,708 (GRCm39) |
V1992L |
possibly damaging |
Het |
| Pigp |
G |
A |
16: 94,165,626 (GRCm39) |
Q99* |
probably null |
Het |
| Pip4p2 |
T |
C |
4: 14,893,536 (GRCm39) |
I133T |
probably benign |
Het |
| Rgs8 |
A |
T |
1: 153,568,469 (GRCm39) |
|
probably null |
Het |
| Rnf170 |
T |
A |
8: 26,614,012 (GRCm39) |
L36H |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,599,807 (GRCm39) |
S1004G |
probably benign |
Het |
| Rpl10a-ps2 |
T |
C |
13: 8,990,779 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,752,759 (GRCm39) |
E1854V |
possibly damaging |
Het |
| Scn7a |
T |
G |
2: 66,505,843 (GRCm39) |
*1682S |
probably null |
Het |
| Sema3d |
A |
G |
5: 12,634,958 (GRCm39) |
T675A |
probably benign |
Het |
| Slc1a2 |
T |
C |
2: 102,586,434 (GRCm39) |
F346S |
probably damaging |
Het |
| St14 |
G |
T |
9: 31,011,426 (GRCm39) |
|
probably benign |
Het |
| Stard5 |
T |
C |
7: 83,289,653 (GRCm39) |
V173A |
possibly damaging |
Het |
| Taf1b |
A |
G |
12: 24,594,394 (GRCm39) |
Y309C |
possibly damaging |
Het |
| Tet1 |
T |
C |
10: 62,648,507 (GRCm39) |
N1975S |
possibly damaging |
Het |
| Them5 |
T |
A |
3: 94,251,782 (GRCm39) |
I131N |
probably damaging |
Het |
| Tnc |
A |
C |
4: 63,918,398 (GRCm39) |
V1171G |
possibly damaging |
Het |
| Ttc12 |
C |
A |
9: 49,351,482 (GRCm39) |
G672W |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,579,774 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
A |
G |
8: 107,624,807 (GRCm39) |
N92S |
probably benign |
Het |
| Was |
A |
T |
X: 7,956,554 (GRCm39) |
F38L |
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 |
|
|
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 |
|
IGL03108:Eif3a
|
APN |
19 |
60,770,747 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
2015-04-16 |
Incidental Mutation