Incidental Mutation 'IGL02493:Eif3c'
| ID |
295711 |
| 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 # |
IGL02493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126146083-126165538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126158073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 294
(N294K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032992]
[ENSMUST00000180459]
[ENSMUST00000205949]
|
| AlphaFold |
Q8R1B4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032992
AA Change: N294K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: N294K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122504
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180459
|
| SMART Domains |
Protein: ENSMUSP00000138023
Gene: ENSMUSG00000030738
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205949
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
G |
15: 59,888,312 (GRCm39) |
S43R |
probably benign |
Het |
| Afap1l1 |
G |
T |
18: 61,870,594 (GRCm39) |
Q595K |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,483,402 (GRCm39) |
E202G |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,540,528 (GRCm39) |
V150A |
probably damaging |
Het |
| Bcas3 |
T |
C |
11: 85,386,708 (GRCm39) |
I381T |
probably damaging |
Het |
| Best3 |
A |
T |
10: 116,860,506 (GRCm39) |
R589W |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,959,054 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
C |
7: 7,287,243 (GRCm39) |
D728E |
probably damaging |
Het |
| Commd2 |
C |
A |
3: 57,559,080 (GRCm39) |
|
probably benign |
Het |
| Csrp1 |
T |
A |
1: 135,678,801 (GRCm39) |
F175L |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,570,789 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
G |
T |
17: 7,994,377 (GRCm39) |
P297Q |
unknown |
Het |
| Galnt13 |
A |
G |
2: 54,770,149 (GRCm39) |
I314V |
probably benign |
Het |
| Gimap6 |
T |
A |
6: 48,679,603 (GRCm39) |
K144N |
probably damaging |
Het |
| Gm10188 |
A |
T |
1: 132,157,143 (GRCm39) |
C74* |
probably null |
Het |
| Gpatch2 |
C |
T |
1: 186,965,325 (GRCm39) |
|
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,464,515 (GRCm39) |
M39K |
probably damaging |
Het |
| Has2 |
G |
T |
15: 56,531,320 (GRCm39) |
T465K |
probably damaging |
Het |
| Homer3 |
T |
A |
8: 70,742,721 (GRCm39) |
V144D |
probably benign |
Het |
| Ift140 |
A |
T |
17: 25,306,898 (GRCm39) |
K878* |
probably null |
Het |
| Ikbip |
A |
G |
10: 90,932,456 (GRCm39) |
N367D |
probably damaging |
Het |
| Immt |
T |
C |
6: 71,821,700 (GRCm39) |
|
probably benign |
Het |
| Isca1 |
A |
G |
13: 59,910,596 (GRCm39) |
V32A |
possibly damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,427,548 (GRCm39) |
N288K |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,268,936 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
T |
A |
6: 34,106,127 (GRCm39) |
D717E |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,417,647 (GRCm39) |
G1037E |
probably damaging |
Het |
| Man2a2 |
T |
A |
7: 80,019,363 (GRCm39) |
Q37L |
possibly damaging |
Het |
| Msh4 |
C |
T |
3: 153,583,545 (GRCm39) |
|
probably null |
Het |
| Mtf1 |
C |
T |
4: 124,715,112 (GRCm39) |
R246W |
probably damaging |
Het |
| Mvb12b |
A |
G |
2: 33,730,221 (GRCm39) |
S57P |
probably benign |
Het |
| Nat8f5 |
A |
G |
6: 85,794,544 (GRCm39) |
F139L |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,128,985 (GRCm39) |
F400L |
probably damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,708,390 (GRCm39) |
S248T |
possibly damaging |
Het |
| Oplah |
G |
A |
15: 76,185,155 (GRCm39) |
R853* |
probably null |
Het |
| Or5b98 |
T |
C |
19: 12,931,138 (GRCm39) |
F62L |
probably benign |
Het |
| Or5p57 |
A |
T |
7: 107,665,012 (GRCm39) |
M331K |
possibly damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,914,391 (GRCm39) |
|
probably null |
Het |
| Pskh1 |
G |
A |
8: 106,656,388 (GRCm39) |
V355I |
probably benign |
Het |
| Rab31 |
A |
T |
17: 66,024,547 (GRCm39) |
M44K |
possibly damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,910,849 (GRCm39) |
V329A |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,600,908 (GRCm39) |
Y76H |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,261,432 (GRCm39) |
|
probably null |
Het |
| Treh |
A |
T |
9: 44,594,246 (GRCm39) |
D164V |
possibly damaging |
Het |
| Trim6 |
A |
G |
7: 103,881,847 (GRCm39) |
Y366C |
probably benign |
Het |
| Ubr7 |
T |
C |
12: 102,734,479 (GRCm39) |
V251A |
probably benign |
Het |
| Vmn1r35 |
T |
A |
6: 66,656,463 (GRCm39) |
N69I |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,433,968 (GRCm39) |
L2255P |
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 |
|
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 |
2015-04-16 |
Incidental Mutation