Incidental Mutation 'R9394:Eif3c'
ID |
710741 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9394 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126146083-126165538 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 126156550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 432
(F432L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032992]
|
AlphaFold |
Q8R1B4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032992
AA Change: F432L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000032992 Gene: ENSMUSG00000030738 AA Change: F432L
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: 99.7%
- 20x: 99.2%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
G |
4: 86,135,225 (GRCm39) |
D78G |
|
Het |
Adgrv1 |
A |
G |
13: 81,624,767 (GRCm39) |
V3734A |
possibly damaging |
Het |
Alpk1 |
T |
A |
3: 127,466,187 (GRCm39) |
E1106D |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,145,006 (GRCm39) |
Y639C |
probably damaging |
Het |
Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
Arfgef2 |
G |
A |
2: 166,676,469 (GRCm39) |
V119I |
probably benign |
Het |
Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
Cfap52 |
A |
G |
11: 67,815,921 (GRCm39) |
*621R |
probably null |
Het |
Dis3l |
T |
C |
9: 64,225,017 (GRCm39) |
I427V |
probably benign |
Het |
Dscaml1 |
G |
A |
9: 45,661,354 (GRCm39) |
V1751I |
possibly damaging |
Het |
Iars1 |
A |
G |
13: 49,883,536 (GRCm39) |
N1110S |
probably benign |
Het |
Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
Igfbpl1 |
A |
T |
4: 45,826,792 (GRCm39) |
M1K |
probably null |
Het |
Igkv3-1 |
T |
A |
6: 70,680,953 (GRCm39) |
Y51N |
probably benign |
Het |
Kcnq2 |
A |
T |
2: 180,724,217 (GRCm39) |
I600K |
probably benign |
Het |
Madd |
G |
A |
2: 91,000,199 (GRCm39) |
T569M |
probably benign |
Het |
Mapk7 |
A |
T |
11: 61,381,858 (GRCm39) |
H351Q |
probably damaging |
Het |
Met |
A |
C |
6: 17,513,395 (GRCm39) |
Y415S |
probably damaging |
Het |
Mmd2 |
A |
T |
5: 142,555,239 (GRCm39) |
V151D |
probably damaging |
Het |
Nacad |
T |
C |
11: 6,549,390 (GRCm39) |
D1267G |
probably damaging |
Het |
Or10g1 |
A |
G |
14: 52,647,570 (GRCm39) |
V253A |
probably damaging |
Het |
Or2l13 |
A |
C |
16: 19,306,421 (GRCm39) |
T278P |
possibly damaging |
Het |
Or2m13 |
A |
G |
16: 19,226,019 (GRCm39) |
V249A |
probably benign |
Het |
Or5w12 |
T |
C |
2: 87,502,094 (GRCm39) |
I206V |
probably benign |
Het |
Osbpl8 |
C |
T |
10: 111,127,375 (GRCm39) |
R820* |
probably null |
Het |
Oxsr1 |
C |
A |
9: 119,151,134 (GRCm39) |
E3* |
probably null |
Het |
Plekhg3 |
A |
G |
12: 76,623,862 (GRCm39) |
D1035G |
probably damaging |
Het |
Prune2 |
C |
T |
19: 16,981,053 (GRCm39) |
T70I |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,291,698 (GRCm39) |
L235S |
probably damaging |
Het |
Rasal1 |
A |
C |
5: 120,816,746 (GRCm39) |
S761R |
probably benign |
Het |
Rigi |
T |
C |
4: 40,213,831 (GRCm39) |
N609S |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,511,856 (GRCm39) |
S566G |
probably damaging |
Het |
Rnf123 |
T |
C |
9: 107,942,905 (GRCm39) |
H611R |
probably damaging |
Het |
Rpl35rt |
T |
C |
1: 156,193,793 (GRCm39) |
V49A |
probably benign |
Het |
Scn5a |
T |
A |
9: 119,324,682 (GRCm39) |
N1382I |
probably damaging |
Het |
Sgcb |
T |
C |
5: 73,801,653 (GRCm39) |
I71V |
probably benign |
Het |
Slc6a20a |
C |
A |
9: 123,507,805 (GRCm39) |
V23L |
probably damaging |
Het |
Slc7a1 |
A |
G |
5: 148,270,712 (GRCm39) |
W585R |
probably damaging |
Het |
Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
Tom1l2 |
T |
C |
11: 60,132,715 (GRCm39) |
T403A |
probably benign |
Het |
Trpm1 |
G |
T |
7: 63,918,480 (GRCm39) |
A1491S |
probably benign |
Het |
Ttn |
A |
C |
2: 76,707,058 (GRCm39) |
D9044E |
unknown |
Het |
Ube3a |
A |
T |
7: 58,921,960 (GRCm39) |
K111* |
probably null |
Het |
Wee2 |
A |
G |
6: 40,433,878 (GRCm39) |
H264R |
probably damaging |
Het |
Zdhhc23 |
T |
A |
16: 43,791,826 (GRCm39) |
I316F |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,254,600 (GRCm39) |
E1398G |
probably damaging |
Het |
Zfp612 |
C |
A |
8: 110,810,993 (GRCm39) |
P57T |
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 |
|
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 |
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'- ACCTTGGGAGTGAGGATCAG -3'
(R):5'- CAGCCTTGTGTATTGAAGGTCC -3'
Sequencing Primer
(F):5'- CCTTGGGAGTGAGGATCAGTATTTTG -3'
(R):5'- GAAAGGGTTCTTTAGAAACGTCACTG -3'
|
Posted On |
2022-04-18 |