Incidental Mutation 'IGL02316:Eif3a'
| ID |
288049 |
| 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 # |
IGL02316
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
60749555-60779096 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 60760076 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199618
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(36) : Targeted, other(2) Gene trapped(34) |
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c13 |
G |
T |
13: 4,253,458 (GRCm39) |
|
probably benign |
Het |
| Arhgap26 |
C |
T |
18: 38,775,599 (GRCm39) |
|
noncoding transcript |
Het |
| Atp5f1b |
T |
C |
10: 127,920,178 (GRCm39) |
V108A |
probably benign |
Het |
| B230307C23Rik |
G |
A |
16: 97,809,850 (GRCm39) |
V9M |
probably damaging |
Het |
| Ccdc85c |
T |
A |
12: 108,177,829 (GRCm39) |
H321L |
probably damaging |
Het |
| Diaph3 |
A |
T |
14: 87,223,551 (GRCm39) |
M321K |
possibly damaging |
Het |
| Dicer1 |
G |
A |
12: 104,668,812 (GRCm39) |
A1290V |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,145,894 (GRCm39) |
T839M |
probably benign |
Het |
| Eml1 |
T |
C |
12: 108,501,018 (GRCm39) |
|
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,887,519 (GRCm39) |
Q769R |
probably damaging |
Het |
| Fam184a |
T |
G |
10: 53,514,335 (GRCm39) |
T426P |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,809,137 (GRCm39) |
H1819N |
probably benign |
Het |
| Gm6686 |
T |
A |
17: 15,786,500 (GRCm39) |
|
probably benign |
Het |
| Hadha |
T |
C |
5: 30,331,565 (GRCm39) |
S464G |
probably benign |
Het |
| Ighv5-17 |
A |
T |
12: 113,822,775 (GRCm39) |
C115* |
probably null |
Het |
| Jmjd6 |
T |
C |
11: 116,733,928 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Klrb1-ps1 |
G |
A |
6: 129,093,532 (GRCm39) |
|
noncoding transcript |
Het |
| Mgat1 |
T |
C |
11: 49,152,185 (GRCm39) |
Y223H |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,569,668 (GRCm39) |
S243P |
possibly damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,577 (GRCm39) |
L69P |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,879,744 (GRCm39) |
I2T |
probably benign |
Het |
| Or1j21 |
A |
T |
2: 36,683,632 (GRCm39) |
H128L |
probably damaging |
Het |
| Or1j4 |
C |
A |
2: 36,740,294 (GRCm39) |
P79T |
probably damaging |
Het |
| Or4p23 |
A |
G |
2: 88,577,187 (GRCm39) |
F15S |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,128,336 (GRCm39) |
D332E |
possibly damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,162,835 (GRCm39) |
I1143V |
probably benign |
Het |
| Rsl1 |
T |
A |
13: 67,325,120 (GRCm39) |
|
probably null |
Het |
| Scg2 |
A |
C |
1: 79,413,398 (GRCm39) |
L442V |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,610,828 (GRCm39) |
V530E |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,200,489 (GRCm39) |
I4655T |
possibly damaging |
Het |
| Zcwpw1 |
T |
C |
5: 137,808,272 (GRCm39) |
|
probably benign |
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 |
|
|
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