Incidental Mutation 'IGL01434:Eif3c'
| ID |
84269 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eif3c
|
| Ensembl Gene |
ENSMUSG00000030738 |
| Gene Name |
eukaryotic translation initiation factor 3, subunit C |
| Synonyms |
110kDa, Xs, 3230401O13Rik, NIPIL(A3), Xsl, Eif3s8 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126146083-126165538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126155582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 562
(I562T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032992]
|
| AlphaFold |
Q8R1B4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032992
AA Change: I562T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: I562T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
Pfam:eIF-3c_N
|
29 |
703 |
9.6e-267 |
PFAM |
|
PINT
|
776 |
864 |
9.7e-27 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutations in this gene result in a range of abnormal limb development, including polydactyly, and white coat spotting. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
G |
7: 119,380,297 (GRCm39) |
|
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,051,472 (GRCm39) |
N864S |
probably damaging |
Het |
| Anapc7 |
A |
G |
5: 122,576,279 (GRCm39) |
D302G |
probably benign |
Het |
| Atm |
A |
T |
9: 53,419,107 (GRCm39) |
C782S |
probably benign |
Het |
| Bicdl1 |
G |
A |
5: 115,808,215 (GRCm39) |
Q37* |
probably null |
Het |
| Cabin1 |
T |
C |
10: 75,561,420 (GRCm39) |
D1027G |
possibly damaging |
Het |
| Cbl |
T |
C |
9: 44,075,503 (GRCm39) |
I364V |
probably damaging |
Het |
| Ccer1 |
T |
C |
10: 97,529,459 (GRCm39) |
S41P |
unknown |
Het |
| Cenpf |
G |
A |
1: 189,390,065 (GRCm39) |
Q1256* |
probably null |
Het |
| Copa |
T |
A |
1: 171,947,128 (GRCm39) |
I1093N |
probably benign |
Het |
| Cped1 |
C |
T |
6: 22,017,004 (GRCm39) |
L118F |
probably damaging |
Het |
| Cplane2 |
T |
C |
4: 140,945,964 (GRCm39) |
V169A |
probably benign |
Het |
| Cstdc4 |
T |
A |
16: 36,006,777 (GRCm39) |
V37E |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,731 (GRCm39) |
H626R |
probably benign |
Het |
| Ears2 |
G |
A |
7: 121,662,311 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,769,090 (GRCm39) |
Y685C |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,320,700 (GRCm39) |
V108A |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,982 (GRCm39) |
K321E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,120,285 (GRCm39) |
G306R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,614,306 (GRCm39) |
Y138C |
probably damaging |
Het |
| Lhcgr |
A |
G |
17: 89,049,865 (GRCm39) |
Y554H |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 50,350,956 (GRCm39) |
K534N |
probably benign |
Het |
| Nob1 |
A |
G |
8: 108,151,360 (GRCm39) |
|
probably benign |
Het |
| Or13a17 |
G |
A |
7: 140,271,531 (GRCm39) |
A238T |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,914,385 (GRCm39) |
P60L |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,531,451 (GRCm39) |
E1358G |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,029,566 (GRCm39) |
T997A |
probably benign |
Het |
| Slc9a9 |
T |
A |
9: 94,901,247 (GRCm39) |
N393K |
possibly damaging |
Het |
| Sohlh2 |
T |
C |
3: 55,102,582 (GRCm39) |
S206P |
probably damaging |
Het |
| Stard10 |
G |
A |
7: 100,971,187 (GRCm39) |
V125M |
probably benign |
Het |
| Tff2 |
G |
T |
17: 31,362,240 (GRCm39) |
|
probably null |
Het |
| Tha1 |
T |
C |
11: 117,759,425 (GRCm39) |
T355A |
probably benign |
Het |
| Tmem120a |
G |
T |
5: 135,765,864 (GRCm39) |
F127L |
possibly damaging |
Het |
| Tmem41b |
A |
G |
7: 109,577,909 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,515,302 (GRCm39) |
D1028G |
probably benign |
Het |
|
| Other mutations in Eif3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00970:Eif3c
|
APN |
7 |
126,158,180 (GRCm39) |
missense |
probably benign |
|
|
IGL01380:Eif3c
|
APN |
7 |
126,163,585 (GRCm39) |
intron |
probably benign |
|
|
IGL01534:Eif3c
|
APN |
7 |
126,156,867 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02493:Eif3c
|
APN |
7 |
126,158,073 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02544:Eif3c
|
APN |
7 |
126,146,784 (GRCm39) |
nonsense |
probably null |
|
|
IGL02821:Eif3c
|
APN |
7 |
126,157,831 (GRCm39) |
missense |
probably benign |
|
|
IGL02963:Eif3c
|
APN |
7 |
126,155,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0194:Eif3c
|
UTSW |
7 |
126,157,795 (GRCm39) |
unclassified |
probably benign |
|
|
R0421:Eif3c
|
UTSW |
7 |
126,162,884 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1486:Eif3c
|
UTSW |
7 |
126,163,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2378:Eif3c
|
UTSW |
7 |
126,151,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4135:Eif3c
|
UTSW |
7 |
126,165,471 (GRCm39) |
unclassified |
probably benign |
|
|
R4223:Eif3c
|
UTSW |
7 |
126,165,471 (GRCm39) |
unclassified |
probably benign |
|
|
R4225:Eif3c
|
UTSW |
7 |
126,165,471 (GRCm39) |
unclassified |
probably benign |
|
|
R4898:Eif3c
|
UTSW |
7 |
126,156,626 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5144:Eif3c
|
UTSW |
7 |
126,162,238 (GRCm39) |
missense |
probably benign |
|
|
R5246:Eif3c
|
UTSW |
7 |
126,156,410 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5845:Eif3c
|
UTSW |
7 |
126,163,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6495:Eif3c
|
UTSW |
7 |
126,146,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6884:Eif3c
|
UTSW |
7 |
126,156,051 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7236:Eif3c
|
UTSW |
7 |
126,151,495 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7691:Eif3c
|
UTSW |
7 |
126,151,162 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7744:Eif3c
|
UTSW |
7 |
126,158,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Eif3c
|
UTSW |
7 |
126,162,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Eif3c
|
UTSW |
7 |
126,147,069 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8779:Eif3c
|
UTSW |
7 |
126,162,900 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8827:Eif3c
|
UTSW |
7 |
126,157,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Eif3c
|
UTSW |
7 |
126,155,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9394:Eif3c
|
UTSW |
7 |
126,156,550 (GRCm39) |
missense |
probably benign |
|
|
R9711:Eif3c
|
UTSW |
7 |
126,146,674 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
X0065:Eif3c
|
UTSW |
7 |
126,151,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-11 |
Incidental Mutation