Incidental Mutation 'IGL01650:Eif3a'
ID |
102814 |
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 # |
IGL01650
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
60749555-60779096 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 60762434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 450
(I450F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025955]
|
AlphaFold |
P23116 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025955
AA Change: I450F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025955 Gene: ENSMUSG00000024991 AA Change: I450F
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl1 |
A |
G |
7: 76,070,067 (GRCm39) |
D281G |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,180,127 (GRCm39) |
E236G |
probably damaging |
Het |
Bltp1 |
G |
A |
3: 37,046,822 (GRCm39) |
|
probably benign |
Het |
Btbd3 |
A |
T |
2: 138,126,025 (GRCm39) |
D334V |
probably damaging |
Het |
Cabp4 |
T |
C |
19: 4,189,323 (GRCm39) |
E78G |
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,287,280 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,270,089 (GRCm39) |
Y600C |
unknown |
Het |
Cpne4 |
A |
G |
9: 104,778,710 (GRCm39) |
D167G |
probably damaging |
Het |
Enpp2 |
T |
A |
15: 54,783,329 (GRCm39) |
Y10F |
probably benign |
Het |
Fam227a |
A |
T |
15: 79,518,274 (GRCm39) |
H339Q |
possibly damaging |
Het |
Far2 |
C |
A |
6: 148,074,985 (GRCm39) |
T406K |
possibly damaging |
Het |
Fmo1 |
A |
G |
1: 162,661,153 (GRCm39) |
S377P |
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,821,430 (GRCm39) |
S5721N |
probably benign |
Het |
Gatb |
T |
C |
3: 85,520,791 (GRCm39) |
I300T |
possibly damaging |
Het |
Gpam |
T |
C |
19: 55,070,132 (GRCm39) |
N375D |
probably benign |
Het |
Gsdma |
G |
T |
11: 98,564,513 (GRCm39) |
D331Y |
probably damaging |
Het |
Kif13b |
T |
C |
14: 65,002,594 (GRCm39) |
V1073A |
probably benign |
Het |
Mfsd4b1 |
T |
A |
10: 39,879,115 (GRCm39) |
M261L |
probably benign |
Het |
Nav1 |
A |
T |
1: 135,382,498 (GRCm39) |
D1321E |
probably damaging |
Het |
Or4f59 |
A |
G |
2: 111,872,720 (GRCm39) |
I219T |
possibly damaging |
Het |
Or52j3 |
A |
G |
7: 102,836,286 (GRCm39) |
I159M |
probably benign |
Het |
Or6c69 |
A |
G |
10: 129,747,550 (GRCm39) |
V199A |
probably benign |
Het |
Or6c76b |
T |
A |
10: 129,692,936 (GRCm39) |
L183Q |
probably damaging |
Het |
Or8g32 |
G |
T |
9: 39,305,252 (GRCm39) |
S55I |
probably damaging |
Het |
Ppp1r10 |
G |
T |
17: 36,242,053 (GRCm39) |
R857L |
unknown |
Het |
Prune2 |
T |
A |
19: 17,145,656 (GRCm39) |
I2752N |
possibly damaging |
Het |
Pxdn |
T |
C |
12: 30,052,400 (GRCm39) |
I859T |
probably benign |
Het |
Ros1 |
T |
C |
10: 52,031,075 (GRCm39) |
D510G |
probably damaging |
Het |
Sema3g |
C |
A |
14: 30,943,744 (GRCm39) |
P208H |
probably benign |
Het |
Smcr8 |
T |
C |
11: 60,669,010 (GRCm39) |
F53L |
probably damaging |
Het |
Tnfsf13b |
A |
T |
8: 10,081,411 (GRCm39) |
I219F |
probably damaging |
Het |
Vmn1r62 |
T |
C |
7: 5,679,024 (GRCm39) |
V235A |
probably damaging |
Het |
Vmn2r44 |
C |
A |
7: 8,383,103 (GRCm39) |
|
probably null |
Het |
Zkscan7 |
A |
G |
9: 122,723,892 (GRCm39) |
D287G |
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 |
|
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 |
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 |
2014-01-21 |