Incidental Mutation 'R0740:Ccdc60'
| ID |
70654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc60
|
| Ensembl Gene |
ENSMUSG00000043913 |
| Gene Name |
coiled-coil domain containing 60 |
| Synonyms |
|
| MMRRC Submission |
038921-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R0740 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
116263640-116427059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116328135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 110
(R110W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050178]
[ENSMUST00000086483]
|
| AlphaFold |
Q8C4J0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050178
AA Change: R110W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000049912
Gene: ENSMUSG00000043913
AA Change: R110W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4698
|
60 |
535 |
6.3e-225 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086483
AA Change: R110W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083671
Gene: ENSMUSG00000043913
AA Change: R110W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
81 |
95 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc3 |
G |
T |
11: 101,223,158 (GRCm39) |
V465L |
probably benign |
Het |
| C2cd5 |
T |
A |
6: 142,981,989 (GRCm39) |
N625I |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,824,243 (GRCm39) |
F43L |
possibly damaging |
Het |
| Crabp2 |
A |
G |
3: 87,859,443 (GRCm39) |
K31R |
probably benign |
Het |
| Get1 |
G |
C |
16: 95,946,798 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,439,082 (GRCm39) |
F220L |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,610,791 (GRCm39) |
|
probably null |
Het |
| Rragc |
A |
G |
4: 123,818,556 (GRCm39) |
K257R |
probably damaging |
Het |
| Scml4 |
T |
C |
10: 42,806,559 (GRCm39) |
F149S |
probably damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,827,531 (GRCm39) |
K178R |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,977,623 (GRCm39) |
V224D |
probably damaging |
Het |
| Zfp964 |
G |
T |
8: 70,115,828 (GRCm39) |
D143Y |
probably damaging |
Het |
|
| Other mutations in Ccdc60 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02838:Ccdc60
|
APN |
5 |
116,272,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03095:Ccdc60
|
APN |
5 |
116,284,274 (GRCm39) |
splice site |
probably benign |
|
|
IGL03235:Ccdc60
|
APN |
5 |
116,269,205 (GRCm39) |
missense |
probably benign |
|
|
R0630:Ccdc60
|
UTSW |
5 |
116,274,440 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0959:Ccdc60
|
UTSW |
5 |
116,318,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1061:Ccdc60
|
UTSW |
5 |
116,310,527 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1760:Ccdc60
|
UTSW |
5 |
116,310,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1940:Ccdc60
|
UTSW |
5 |
116,264,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Ccdc60
|
UTSW |
5 |
116,284,243 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2190:Ccdc60
|
UTSW |
5 |
116,295,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3856:Ccdc60
|
UTSW |
5 |
116,310,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Ccdc60
|
UTSW |
5 |
116,310,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Ccdc60
|
UTSW |
5 |
116,426,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6169:Ccdc60
|
UTSW |
5 |
116,275,131 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6379:Ccdc60
|
UTSW |
5 |
116,269,082 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7081:Ccdc60
|
UTSW |
5 |
116,264,146 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8554:Ccdc60
|
UTSW |
5 |
116,328,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Ccdc60
|
UTSW |
5 |
116,328,153 (GRCm39) |
missense |
probably benign |
|
|
R9213:Ccdc60
|
UTSW |
5 |
116,328,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Ccdc60
|
UTSW |
5 |
116,269,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ccdc60
|
UTSW |
5 |
116,426,768 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACCAGCAAGGTTTCCTCTGTCCC -3'
(R):5'- TCCAGCTTCCTGATCCAGTGTGTG -3'
Sequencing Primer
(F):5'- GGCAGAAGATTCTACACTTAAGGTC -3'
(R):5'- CCTGATCCAGTGTGTGAAGATAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation