Incidental Mutation 'R2378:Eif3c'
| ID |
248348 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2378 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126146083-126165538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126151497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 609
(R609H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032992]
|
| AlphaFold |
Q8R1B4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032992
AA Change: R609H
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: R609H
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.1%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AK157302 |
T |
C |
13: 21,679,732 (GRCm39) |
I86T |
possibly damaging |
Het |
| Akr1cl |
A |
T |
1: 65,061,147 (GRCm39) |
M124K |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,304,319 (GRCm39) |
L745P |
possibly damaging |
Het |
| B3gnt9 |
G |
A |
8: 105,981,116 (GRCm39) |
R91C |
probably damaging |
Het |
| Capg |
C |
T |
6: 72,532,474 (GRCm39) |
P13L |
probably benign |
Het |
| Ephb3 |
A |
G |
16: 21,036,993 (GRCm39) |
H152R |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,228,042 (GRCm39) |
D580G |
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,059,918 (GRCm39) |
Y97H |
probably damaging |
Het |
| Ip6k2 |
A |
G |
9: 108,673,500 (GRCm39) |
|
probably null |
Het |
| Itih2 |
T |
A |
2: 10,099,698 (GRCm39) |
D907V |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,510,537 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
A |
G |
3: 153,569,114 (GRCm39) |
C732R |
probably damaging |
Het |
| Mtss2 |
T |
C |
8: 111,464,981 (GRCm39) |
F474L |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,459,876 (GRCm39) |
E1175G |
probably damaging |
Het |
| Pgm3 |
A |
T |
9: 86,444,720 (GRCm39) |
C272S |
probably damaging |
Het |
| R3hcc1l |
T |
A |
19: 42,551,912 (GRCm39) |
I303N |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Spsb3 |
A |
G |
17: 25,105,924 (GRCm39) |
|
probably benign |
Het |
| Tgfbr2 |
G |
A |
9: 115,959,018 (GRCm39) |
T132I |
probably benign |
Het |
| Tpp2 |
A |
T |
1: 44,038,925 (GRCm39) |
E223V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,719,794 (GRCm39) |
|
probably benign |
Het |
| Vmn2r102 |
T |
G |
17: 19,914,930 (GRCm39) |
L832V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGCTCCAGGTTGATGTG -3'
(R):5'- TGAAGCCTTTACCAAGCCTCC -3'
Sequencing Primer
(F):5'- CCAGGTTGATGTGCAGGTGAAAG -3'
(R):5'- TGCTGGGATTTGAACTCAGAACC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation