Incidental Mutation 'R6884:Eif3c'
| ID |
536842 |
| 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 |
044979-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6884 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126146083-126165538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126156051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 473
(D473G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032992]
|
| AlphaFold |
Q8R1B4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032992
AA Change: D473G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: D473G
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,323,407 (GRCm39) |
|
probably benign |
Het |
| Abca5 |
C |
T |
11: 110,220,043 (GRCm39) |
V8M |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,741,863 (GRCm39) |
D736E |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,050,324 (GRCm39) |
D1072G |
probably benign |
Het |
| Cacna1i |
C |
T |
15: 80,259,010 (GRCm39) |
R1240C |
probably damaging |
Het |
| Ccdc40 |
A |
T |
11: 119,133,565 (GRCm39) |
E568D |
possibly damaging |
Het |
| Col12a1 |
C |
T |
9: 79,547,091 (GRCm39) |
G2247E |
possibly damaging |
Het |
| Dapk3 |
T |
A |
10: 81,027,588 (GRCm39) |
|
probably null |
Het |
| Dcaf13 |
T |
C |
15: 38,986,635 (GRCm39) |
W136R |
probably damaging |
Het |
| Dip2a |
C |
A |
10: 76,108,366 (GRCm39) |
|
probably null |
Het |
| Erich2 |
G |
A |
2: 70,339,505 (GRCm39) |
R20H |
possibly damaging |
Het |
| Gcnt7 |
T |
C |
2: 172,296,125 (GRCm39) |
N233S |
probably damaging |
Het |
| Gdpd4 |
G |
T |
7: 97,621,382 (GRCm39) |
L208F |
probably damaging |
Het |
| Gm10269 |
T |
A |
18: 20,815,932 (GRCm39) |
Q30L |
possibly damaging |
Het |
| Gm7298 |
A |
T |
6: 121,737,480 (GRCm39) |
I295F |
possibly damaging |
Het |
| Htr7 |
A |
G |
19: 35,941,779 (GRCm39) |
|
probably null |
Het |
| Ing1 |
A |
G |
8: 11,611,916 (GRCm39) |
Y118C |
probably damaging |
Het |
| Krtap16-1 |
C |
T |
11: 99,877,284 (GRCm39) |
W40* |
probably null |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,467 (GRCm39) |
D51E |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,986 (GRCm39) |
Q2513L |
probably benign |
Het |
| Morf4l1 |
A |
T |
9: 89,976,532 (GRCm39) |
N265K |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,952,904 (GRCm39) |
D299G |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,745,197 (GRCm39) |
G55R |
probably damaging |
Het |
| Myb |
T |
A |
10: 21,028,431 (GRCm39) |
K144I |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,709,875 (GRCm39) |
I587T |
possibly damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,135,374 (GRCm39) |
S288G |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,969,128 (GRCm39) |
Y2700H |
probably damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,345 (GRCm39) |
V247A |
probably benign |
Het |
| Or6c3 |
T |
A |
10: 129,309,023 (GRCm39) |
F154Y |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,536,574 (GRCm39) |
D90G |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,022,627 (GRCm39) |
F315L |
possibly damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Ret |
T |
C |
6: 118,132,362 (GRCm39) |
D1026G |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,303,096 (GRCm39) |
Q143L |
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,272,910 (GRCm39) |
E210G |
probably benign |
Het |
| Serpina1b |
T |
A |
12: 103,698,712 (GRCm39) |
T46S |
probably benign |
Het |
| Serpinb9e |
A |
T |
13: 33,435,609 (GRCm39) |
H14L |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,059,652 (GRCm39) |
S1003P |
possibly damaging |
Het |
| Slc25a25 |
A |
C |
2: 32,310,674 (GRCm39) |
V168G |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,238,726 (GRCm39) |
T261A |
possibly damaging |
Het |
| Spocd1 |
T |
C |
4: 129,849,197 (GRCm39) |
|
probably benign |
Het |
| Tmem222 |
A |
T |
4: 132,995,514 (GRCm39) |
Y178N |
probably damaging |
Het |
| Top1mt |
C |
T |
15: 75,535,893 (GRCm39) |
E470K |
probably benign |
Het |
| Traj42 |
T |
C |
14: 54,413,290 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
C |
12: 91,504,876 (GRCm39) |
Y13H |
probably damaging |
Het |
| Uvssa |
A |
G |
5: 33,566,461 (GRCm39) |
|
probably null |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,633 (GRCm39) |
V159I |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,213 (GRCm39) |
T700S |
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 |
|
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 |
|
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'- AGATTACCAAGTACTCTCACCTTTG -3'
(R):5'- AGTGCTAGAGTTACAGGCTCTG -3'
Sequencing Primer
(F):5'- CACCTTTGAGGATCCTTCAGGAG -3'
(R):5'- TTTCAGATACTCCCCTAACAGTGAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation