Incidental Mutation 'IGL02963:Eif3c'
ID |
365443 |
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 # |
IGL02963
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
126146083-126165538 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126155992 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 493
(T493A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032992]
|
AlphaFold |
Q8R1B4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032992
AA Change: T493A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000032992 Gene: ENSMUSG00000030738 AA Change: T493A
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,603,503 (GRCm39) |
L565Q |
probably damaging |
Het |
Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
Arhgap44 |
A |
T |
11: 64,922,489 (GRCm39) |
I348N |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,165,758 (GRCm39) |
S1005P |
possibly damaging |
Het |
Ccn1 |
A |
G |
3: 145,353,630 (GRCm39) |
Y311H |
probably damaging |
Het |
Cdh20 |
T |
A |
1: 104,861,823 (GRCm39) |
M1K |
probably null |
Het |
Cfhr4 |
G |
A |
1: 139,659,334 (GRCm39) |
Q732* |
probably null |
Het |
Cpsf3 |
T |
C |
12: 21,352,423 (GRCm39) |
S387P |
probably damaging |
Het |
Cyp2j6 |
T |
C |
4: 96,406,421 (GRCm39) |
E450G |
probably damaging |
Het |
Dusp13b |
T |
C |
14: 21,783,875 (GRCm39) |
T147A |
possibly damaging |
Het |
Ell2 |
T |
C |
13: 75,917,762 (GRCm39) |
V564A |
possibly damaging |
Het |
Gtf2ird1 |
T |
G |
5: 134,418,541 (GRCm39) |
E478D |
probably benign |
Het |
Gys2 |
A |
T |
6: 142,395,154 (GRCm39) |
|
probably null |
Het |
H2-T3 |
T |
C |
17: 36,500,526 (GRCm39) |
T104A |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,296,105 (GRCm39) |
S567P |
probably damaging |
Het |
Kcnq3 |
A |
T |
15: 66,157,675 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
T |
C |
6: 39,120,164 (GRCm39) |
H935R |
probably damaging |
Het |
Lcat |
A |
T |
8: 106,666,588 (GRCm39) |
F311L |
probably damaging |
Het |
Manf |
A |
G |
9: 106,768,338 (GRCm39) |
S49P |
possibly damaging |
Het |
Med25 |
T |
C |
7: 44,541,680 (GRCm39) |
K37E |
probably damaging |
Het |
Ms4a4b |
T |
A |
19: 11,432,062 (GRCm39) |
I61K |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,418,001 (GRCm39) |
I3649T |
probably damaging |
Het |
Myo18a |
T |
G |
11: 77,732,844 (GRCm39) |
|
probably benign |
Het |
Ncoa4 |
T |
C |
14: 31,898,466 (GRCm39) |
C429R |
probably damaging |
Het |
Or14j2 |
A |
G |
17: 37,885,745 (GRCm39) |
S190P |
probably benign |
Het |
Pigk |
G |
T |
3: 152,472,098 (GRCm39) |
E337* |
probably null |
Het |
Pigz |
A |
T |
16: 31,763,353 (GRCm39) |
Y137F |
probably damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,814,286 (GRCm39) |
L339P |
probably damaging |
Het |
Rasa2 |
C |
A |
9: 96,452,838 (GRCm39) |
L349F |
probably damaging |
Het |
Reep4 |
A |
G |
14: 70,785,410 (GRCm39) |
S186G |
possibly damaging |
Het |
Rfx7 |
A |
G |
9: 72,524,898 (GRCm39) |
K696R |
probably benign |
Het |
Rnf220 |
A |
G |
4: 117,347,389 (GRCm39) |
F8L |
probably damaging |
Het |
Rprm |
T |
C |
2: 53,975,226 (GRCm39) |
T31A |
probably benign |
Het |
Sez6 |
T |
A |
11: 77,853,775 (GRCm39) |
L148Q |
possibly damaging |
Het |
Sh2d6 |
C |
T |
6: 72,494,584 (GRCm39) |
V96I |
probably benign |
Het |
Slc16a9 |
G |
T |
10: 70,102,966 (GRCm39) |
V81F |
probably damaging |
Het |
Slc9a9 |
T |
A |
9: 94,902,767 (GRCm39) |
|
probably null |
Het |
Sppl3 |
T |
A |
5: 115,199,662 (GRCm39) |
L22Q |
probably damaging |
Het |
Ssc5d |
T |
C |
7: 4,947,326 (GRCm39) |
S1227P |
probably benign |
Het |
Tbc1d1 |
T |
A |
5: 64,421,709 (GRCm39) |
V238E |
probably damaging |
Het |
Tmco6 |
G |
A |
18: 36,871,798 (GRCm39) |
|
probably null |
Het |
Tyr |
A |
G |
7: 87,133,205 (GRCm39) |
V287A |
probably benign |
Het |
Uvrag |
A |
T |
7: 98,555,697 (GRCm39) |
|
probably null |
Het |
Vmn1r167 |
A |
G |
7: 23,204,975 (GRCm39) |
S14P |
possibly damaging |
Het |
Vmn1r171 |
A |
G |
7: 23,332,113 (GRCm39) |
T113A |
possibly damaging |
Het |
Wnk4 |
A |
G |
11: 101,167,039 (GRCm39) |
|
probably benign |
Het |
Zan |
T |
C |
5: 137,454,512 (GRCm39) |
T1431A |
unknown |
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 |
IGL02544:Eif3c
|
APN |
7 |
126,146,784 (GRCm39) |
nonsense |
probably null |
|
IGL02821:Eif3c
|
APN |
7 |
126,157,831 (GRCm39) |
missense |
probably benign |
|
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 |
2015-12-18 |