Incidental Mutation 'R4225:Eif3c'
| ID |
320006 |
| 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 |
041045-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4225 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126146083-126165538 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to G
at 126165471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032992]
[ENSMUST00000084589]
[ENSMUST00000180459]
[ENSMUST00000205949]
|
| AlphaFold |
Q8R1B4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032992
|
| SMART Domains |
Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
| 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 |
probably benign
Transcript: ENSMUST00000084589
|
| SMART Domains |
Protein: ENSMUSP00000081636
Gene: ENSMUSG00000030720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN3
|
37 |
438 |
3.5e-215 |
PFAM |
|
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
100% (38/38) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,085,106 (GRCm39) |
I569V |
possibly damaging |
Het |
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,288,343 (GRCm39) |
D471G |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,607,789 (GRCm39) |
V240A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,983,932 (GRCm39) |
M3374T |
unknown |
Het |
| Ccdc66 |
A |
G |
14: 27,212,736 (GRCm39) |
L529P |
probably damaging |
Het |
| Ctif |
A |
G |
18: 75,568,308 (GRCm39) |
I610T |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,847,027 (GRCm39) |
Y512N |
probably damaging |
Het |
| Esyt1 |
T |
C |
10: 128,356,517 (GRCm39) |
Y376C |
probably damaging |
Het |
| Gba2 |
A |
T |
4: 43,569,464 (GRCm39) |
|
probably benign |
Het |
| Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,814,735 (GRCm39) |
E2696G |
probably damaging |
Het |
| Itgal |
A |
T |
7: 126,904,484 (GRCm39) |
K319M |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Lrig1 |
T |
A |
6: 94,599,639 (GRCm39) |
I348F |
probably damaging |
Het |
| Mc3r |
G |
A |
2: 172,090,954 (GRCm39) |
V59M |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,422,431 (GRCm39) |
K575R |
probably benign |
Het |
| Musk |
A |
T |
4: 58,373,240 (GRCm39) |
M714L |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,181,732 (GRCm39) |
|
probably null |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,812,497 (GRCm39) |
I3810T |
possibly damaging |
Het |
| Pou2f1 |
T |
C |
1: 165,738,889 (GRCm39) |
I177V |
possibly damaging |
Het |
| Rb1 |
T |
C |
14: 73,506,631 (GRCm39) |
M373V |
possibly damaging |
Het |
| Ric1 |
A |
G |
19: 29,580,131 (GRCm39) |
N1311D |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,366,771 (GRCm39) |
Y84H |
probably damaging |
Het |
| Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,781 (GRCm39) |
F86L |
probably damaging |
Het |
| Spdya |
G |
A |
17: 71,869,519 (GRCm39) |
V105I |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
| Stpg2 |
G |
A |
3: 138,921,053 (GRCm39) |
R86Q |
probably damaging |
Het |
| Tdrd6 |
C |
T |
17: 43,936,864 (GRCm39) |
D1395N |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,951 (GRCm39) |
I649N |
probably damaging |
Het |
| Zcchc18 |
A |
T |
X: 135,895,415 (GRCm39) |
N10I |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTCACTGTTTGCCGTAG -3'
(R):5'- GCCACTGGGAATTGTAGTTATTTAG -3'
Sequencing Primer
(F):5'- GTTTGGTGACGAGCTCCTCC -3'
(R):5'- GGAATTGTAGTTATTTAGCGCATTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation