Incidental Mutation 'IGL02544:Eif3c'
ID |
297737 |
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 # |
IGL02544
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
126146083-126165538 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 126146784 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 799
(S799*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032992]
|
AlphaFold |
Q8R1B4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032992
AA Change: S799*
|
SMART Domains |
Protein: ENSMUSP00000032992 Gene: ENSMUSG00000030738 AA Change: S799*
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
C |
5: 77,049,961 (GRCm39) |
S12A |
probably benign |
Het |
Abcb5 |
A |
T |
12: 118,870,003 (GRCm39) |
|
probably benign |
Het |
Acap3 |
G |
A |
4: 155,976,867 (GRCm39) |
E6K |
possibly damaging |
Het |
Ano3 |
A |
T |
2: 110,488,594 (GRCm39) |
I946K |
possibly damaging |
Het |
Arid1a |
A |
G |
4: 133,409,059 (GRCm39) |
V1816A |
unknown |
Het |
Cacna1c |
C |
T |
6: 118,728,440 (GRCm39) |
G335R |
probably damaging |
Het |
Ccnh |
C |
A |
13: 85,350,460 (GRCm39) |
Y118* |
probably null |
Het |
Cep76 |
C |
T |
18: 67,768,020 (GRCm39) |
|
probably benign |
Het |
Cyp2c65 |
T |
C |
19: 39,079,082 (GRCm39) |
V387A |
probably damaging |
Het |
Dapk1 |
T |
G |
13: 60,899,031 (GRCm39) |
S834A |
probably benign |
Het |
Ddx39a |
T |
C |
8: 84,449,402 (GRCm39) |
S367P |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,681,091 (GRCm39) |
I474T |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,876,069 (GRCm39) |
R2579H |
probably benign |
Het |
Dnajc16 |
T |
C |
4: 141,491,958 (GRCm39) |
N622D |
probably damaging |
Het |
Fbxo9 |
A |
G |
9: 77,994,541 (GRCm39) |
Y259H |
probably damaging |
Het |
Fpr-rs4 |
A |
T |
17: 18,242,473 (GRCm39) |
H160L |
probably benign |
Het |
Galc |
A |
T |
12: 98,197,701 (GRCm39) |
V336D |
probably benign |
Het |
Matcap1 |
C |
T |
8: 106,010,092 (GRCm39) |
V286M |
probably benign |
Het |
Mfrp |
T |
C |
9: 44,014,091 (GRCm39) |
L153P |
probably damaging |
Het |
Mtx1 |
C |
A |
3: 89,117,703 (GRCm39) |
W30L |
probably damaging |
Het |
Mysm1 |
A |
T |
4: 94,840,543 (GRCm39) |
D624E |
probably damaging |
Het |
Naa16 |
A |
G |
14: 79,573,260 (GRCm39) |
F837L |
probably damaging |
Het |
Or10ag56 |
C |
T |
2: 87,139,471 (GRCm39) |
R113C |
possibly damaging |
Het |
Or1j17 |
A |
G |
2: 36,578,848 (GRCm39) |
Y278C |
probably damaging |
Het |
Or2ag1 |
T |
C |
7: 106,313,742 (GRCm39) |
I49V |
probably benign |
Het |
Or5h25 |
A |
T |
16: 58,930,507 (GRCm39) |
H155Q |
probably damaging |
Het |
Pde4d |
G |
T |
13: 109,877,057 (GRCm39) |
D137Y |
probably damaging |
Het |
Pik3r1 |
G |
T |
13: 101,823,784 (GRCm39) |
R534S |
probably damaging |
Het |
Pira12 |
T |
A |
7: 3,900,185 (GRCm39) |
Y139F |
probably damaging |
Het |
Plekha5 |
A |
C |
6: 140,535,454 (GRCm39) |
E239A |
possibly damaging |
Het |
Psap |
G |
T |
10: 60,136,405 (GRCm39) |
|
probably benign |
Het |
Rap2b |
T |
C |
3: 61,272,560 (GRCm39) |
F28S |
probably damaging |
Het |
Rfc5 |
A |
T |
5: 117,524,931 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,815,024 (GRCm39) |
D175N |
probably benign |
Het |
Sbno1 |
T |
G |
5: 124,542,046 (GRCm39) |
I370L |
probably damaging |
Het |
Slc17a6 |
T |
A |
7: 51,315,903 (GRCm39) |
C390* |
probably null |
Het |
Srsf7 |
A |
T |
17: 80,511,620 (GRCm39) |
|
probably benign |
Het |
Tbc1d10c |
C |
T |
19: 4,237,959 (GRCm39) |
D272N |
probably benign |
Het |
Tll2 |
A |
G |
19: 41,124,404 (GRCm39) |
F204L |
probably damaging |
Het |
Tmc1 |
T |
A |
19: 20,884,327 (GRCm39) |
T38S |
probably benign |
Het |
Tmem184b |
A |
T |
15: 79,250,007 (GRCm39) |
I256K |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Trip11 |
G |
A |
12: 101,859,780 (GRCm39) |
R365W |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,142,429 (GRCm39) |
P1339S |
probably damaging |
Het |
Vmn2r83 |
T |
A |
10: 79,317,293 (GRCm39) |
|
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 |
|
IGL01434:Eif3c
|
APN |
7 |
126,155,582 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
2015-04-16 |