Incidental Mutation 'R5144:Eif3c'
ID |
395049 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif3c
|
Ensembl Gene |
ENSMUSG00000030738 |
Gene Name |
eukaryotic translation initiation factor 3, subunit C |
Synonyms |
110kDa, Xs, 3230401O13Rik, NIPIL(A3), Xsl, Eif3s8 |
MMRRC Submission |
042728-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5144 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
126146083-126165538 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126162238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 195
(T195A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032992]
[ENSMUST00000180459]
[ENSMUST00000205949]
|
AlphaFold |
Q8R1B4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032992
AA Change: T195A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000032992 Gene: ENSMUSG00000030738 AA Change: T195A
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: ENSMUST00000083407
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122504
|
Predicted Effect |
unknown
Transcript: ENSMUST00000180459
AA Change: T195A
|
SMART Domains |
Protein: ENSMUSP00000138023 Gene: ENSMUSG00000030738 AA Change: T195A
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
|
Meta Mutation Damage Score |
0.0801 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
96% (47/49) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
T |
A |
2: 68,446,604 (GRCm39) |
|
probably benign |
Het |
Arpc2 |
A |
T |
1: 74,287,367 (GRCm39) |
K62N |
probably damaging |
Het |
B4galt5 |
C |
T |
2: 167,148,516 (GRCm39) |
E201K |
possibly damaging |
Het |
Bub1b |
C |
T |
2: 118,445,980 (GRCm39) |
T334M |
possibly damaging |
Het |
Ccdc71 |
T |
C |
9: 108,341,051 (GRCm39) |
V288A |
probably benign |
Het |
Cep350 |
G |
A |
1: 155,786,896 (GRCm39) |
R1444W |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,666,623 (GRCm39) |
L605P |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,766,482 (GRCm39) |
I1813F |
probably damaging |
Het |
Col9a1 |
A |
G |
1: 24,278,434 (GRCm39) |
I821V |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,088,847 (GRCm39) |
D43G |
probably damaging |
Het |
Depdc7 |
T |
C |
2: 104,560,598 (GRCm39) |
Y132C |
probably damaging |
Het |
Dppa2 |
T |
C |
16: 48,137,666 (GRCm39) |
V216A |
probably damaging |
Het |
Ect2l |
A |
T |
10: 18,020,325 (GRCm39) |
N598K |
probably benign |
Het |
Epg5 |
T |
C |
18: 78,058,895 (GRCm39) |
V1883A |
probably damaging |
Het |
Ino80c |
T |
A |
18: 24,241,935 (GRCm39) |
D150V |
probably benign |
Het |
Kcnb1 |
T |
A |
2: 166,947,864 (GRCm39) |
Y328F |
probably damaging |
Het |
Kcnj3 |
G |
A |
2: 55,337,059 (GRCm39) |
|
probably null |
Het |
Ncor1 |
T |
G |
11: 62,240,290 (GRCm39) |
S894R |
probably damaging |
Het |
Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
Nudt19 |
T |
C |
7: 35,254,650 (GRCm39) |
T194A |
probably benign |
Het |
Or1j4 |
A |
T |
2: 36,740,156 (GRCm39) |
T33S |
probably benign |
Het |
Or8b53 |
C |
T |
9: 38,667,689 (GRCm39) |
S235L |
possibly damaging |
Het |
Pappa2 |
T |
A |
1: 158,784,703 (GRCm39) |
R102S |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,950,021 (GRCm39) |
N1332S |
probably benign |
Het |
Plppr1 |
T |
A |
4: 49,319,800 (GRCm39) |
V142E |
possibly damaging |
Het |
Prdm6 |
C |
A |
18: 53,598,110 (GRCm39) |
|
probably benign |
Het |
Prm2 |
T |
A |
16: 10,609,732 (GRCm39) |
|
probably benign |
Het |
Prmt3 |
T |
C |
7: 49,435,883 (GRCm39) |
S155P |
possibly damaging |
Het |
Rars2 |
T |
C |
4: 34,656,793 (GRCm39) |
Y481H |
probably benign |
Het |
Rgs2 |
G |
A |
1: 143,877,437 (GRCm39) |
T206M |
probably benign |
Het |
Slc2a8 |
C |
T |
2: 32,871,785 (GRCm39) |
R56H |
probably damaging |
Het |
Spmip11 |
C |
A |
15: 98,483,148 (GRCm39) |
|
probably null |
Het |
Stk35 |
T |
A |
2: 129,652,855 (GRCm39) |
M452K |
probably damaging |
Het |
Tcf3 |
G |
A |
10: 80,251,071 (GRCm39) |
H454Y |
probably damaging |
Het |
Tgm3 |
C |
T |
2: 129,890,202 (GRCm39) |
S655F |
possibly damaging |
Het |
Tssc4 |
T |
G |
7: 142,623,770 (GRCm39) |
L26R |
probably damaging |
Het |
Utp11 |
A |
T |
4: 124,572,695 (GRCm39) |
|
probably benign |
Het |
Vmn1r237 |
C |
G |
17: 21,534,688 (GRCm39) |
A137G |
possibly damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vps8 |
T |
C |
16: 21,378,103 (GRCm39) |
L1038P |
probably damaging |
Het |
Wipf3 |
C |
T |
6: 54,462,660 (GRCm39) |
A290V |
probably damaging |
Het |
Zdhhc25 |
T |
G |
15: 88,485,259 (GRCm39) |
L198R |
probably damaging |
Het |
Zdhhc6 |
A |
T |
19: 55,302,998 (GRCm39) |
M1K |
probably null |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTCACCTAGTGTCTAACTCAC -3'
(R):5'- GCAGTCTGCAGATGAAGATGC -3'
Sequencing Primer
(F):5'- TCACTCTCTGAACCCAAGGG -3'
(R):5'- TGCAGAAAAGAATGAGGAAGACTCC -3'
|
Posted On |
2016-06-21 |