Incidental Mutation 'R4344:Ccdc187'
| ID |
324248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc187
|
| Ensembl Gene |
ENSMUSG00000048038 |
| Gene Name |
coiled-coil domain containing 187 |
| Synonyms |
4932418E24Rik |
| MMRRC Submission |
041101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4344 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26243469-26294557 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26280669 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 599
(K599I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057224]
[ENSMUST00000217256]
[ENSMUST00000227200]
|
| AlphaFold |
Q8C5V8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057224
AA Change: K599I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: K599I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
557 |
N/A |
INTRINSIC |
|
coiled coil region
|
605 |
632 |
N/A |
INTRINSIC |
|
coiled coil region
|
717 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217256
AA Change: K599I
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000227200
AA Change: K638I
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
G |
T |
1: 25,826,748 (GRCm38) |
R5S |
possibly damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,060,991 (GRCm38) |
L316F |
possibly damaging |
Het |
| Ccn5 |
G |
A |
2: 163,828,986 (GRCm38) |
V138M |
probably damaging |
Het |
| Cd38 |
A |
C |
5: 43,869,089 (GRCm38) |
I72L |
probably benign |
Het |
| Cep19 |
C |
T |
16: 32,107,065 (GRCm38) |
T97M |
probably damaging |
Het |
| Ces2a |
T |
G |
8: 104,737,134 (GRCm38) |
D159E |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,374,490 (GRCm38) |
A917V |
probably damaging |
Het |
| Dennd6b |
G |
A |
15: 89,188,663 (GRCm38) |
A196V |
probably benign |
Het |
| Dlgap3 |
T |
C |
4: 127,214,348 (GRCm38) |
S475P |
possibly damaging |
Het |
| Doc2a |
C |
T |
7: 126,851,149 (GRCm38) |
P156S |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,261,552 (GRCm38) |
|
probably null |
Het |
| Fbf1 |
A |
G |
11: 116,147,742 (GRCm38) |
V851A |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,444,826 (GRCm38) |
V1031F |
probably benign |
Het |
| Gm5878 |
G |
A |
6: 85,125,651 (GRCm38) |
R31* |
probably null |
Het |
| Klk1b8 |
C |
A |
7: 43,945,762 (GRCm38) |
|
probably benign |
Het |
| Lmcd1 |
T |
A |
6: 112,288,007 (GRCm38) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,698,466 (GRCm38) |
I2750K |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,770,292 (GRCm38) |
N2958S |
possibly damaging |
Het |
| Plod3 |
G |
C |
5: 136,988,146 (GRCm38) |
A50P |
probably benign |
Het |
| Ppp1r16b |
G |
A |
2: 158,749,186 (GRCm38) |
V163I |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,768,022 (GRCm38) |
W2475R |
probably damaging |
Het |
| Rad54l |
C |
T |
4: 116,097,354 (GRCm38) |
C684Y |
probably damaging |
Het |
| Ralgds |
T |
C |
2: 28,552,095 (GRCm38) |
L96P |
probably damaging |
Het |
| Rasef |
T |
A |
4: 73,745,089 (GRCm38) |
H167L |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,555,542 (GRCm38) |
F165L |
possibly damaging |
Het |
| Slc38a9 |
T |
C |
13: 112,729,215 (GRCm38) |
I482T |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,459,427 (GRCm38) |
|
probably null |
Het |
| Trpm3 |
A |
T |
19: 22,897,697 (GRCm38) |
S568C |
probably damaging |
Het |
| Ttc39c |
T |
A |
18: 12,728,610 (GRCm38) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,811,243 (GRCm38) |
L5176Q |
possibly damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,139,723 (GRCm38) |
V195E |
probably damaging |
Het |
| Vmn2r22 |
C |
T |
6: 123,637,797 (GRCm38) |
G278D |
probably damaging |
Het |
| Yme1l1 |
G |
A |
2: 23,173,061 (GRCm38) |
A215T |
probably benign |
Het |
| Zmynd15 |
C |
T |
11: 70,461,068 (GRCm38) |
R38* |
probably null |
Het |
|
| Other mutations in Ccdc187 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01868:Ccdc187
|
APN |
2 |
26,280,948 (GRCm38) |
missense |
probably benign |
|
|
IGL02989:Ccdc187
|
APN |
2 |
26,276,431 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL03017:Ccdc187
|
APN |
2 |
26,280,966 (GRCm38) |
missense |
probably benign |
|
|
IGL03059:Ccdc187
|
APN |
2 |
26,294,241 (GRCm38) |
missense |
probably null |
1.00 |
|
IGL03117:Ccdc187
|
APN |
2 |
26,287,968 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0026:Ccdc187
|
UTSW |
2 |
26,281,353 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0144:Ccdc187
|
UTSW |
2 |
26,276,203 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1078:Ccdc187
|
UTSW |
2 |
26,294,377 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1226:Ccdc187
|
UTSW |
2 |
26,276,121 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1624:Ccdc187
|
UTSW |
2 |
26,281,075 (GRCm38) |
missense |
probably benign |
|
|
R1733:Ccdc187
|
UTSW |
2 |
26,293,658 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1851:Ccdc187
|
UTSW |
2 |
26,276,068 (GRCm38) |
missense |
probably benign |
0.17 |
|
R2304:Ccdc187
|
UTSW |
2 |
26,281,017 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4278:Ccdc187
|
UTSW |
2 |
26,282,227 (GRCm38) |
intron |
probably benign |
|
|
R5151:Ccdc187
|
UTSW |
2 |
26,293,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5416:Ccdc187
|
UTSW |
2 |
26,276,092 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5537:Ccdc187
|
UTSW |
2 |
26,276,225 (GRCm38) |
missense |
probably benign |
0.32 |
|
R5761:Ccdc187
|
UTSW |
2 |
26,276,092 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5762:Ccdc187
|
UTSW |
2 |
26,276,092 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5865:Ccdc187
|
UTSW |
2 |
26,293,368 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5925:Ccdc187
|
UTSW |
2 |
26,293,581 (GRCm38) |
missense |
probably benign |
|
|
R6261:Ccdc187
|
UTSW |
2 |
26,276,203 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6803:Ccdc187
|
UTSW |
2 |
26,289,779 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6888:Ccdc187
|
UTSW |
2 |
26,289,734 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6958:Ccdc187
|
UTSW |
2 |
26,289,719 (GRCm38) |
missense |
probably benign |
|
|
R7006:Ccdc187
|
UTSW |
2 |
26,281,090 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7358:Ccdc187
|
UTSW |
2 |
26,255,995 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7818:Ccdc187
|
UTSW |
2 |
26,276,174 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R8048:Ccdc187
|
UTSW |
2 |
26,293,514 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8327:Ccdc187
|
UTSW |
2 |
26,280,618 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8353:Ccdc187
|
UTSW |
2 |
26,276,446 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8425:Ccdc187
|
UTSW |
2 |
26,281,536 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8453:Ccdc187
|
UTSW |
2 |
26,276,446 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8461:Ccdc187
|
UTSW |
2 |
26,293,802 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8534:Ccdc187
|
UTSW |
2 |
26,275,565 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R8694:Ccdc187
|
UTSW |
2 |
26,275,493 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8745:Ccdc187
|
UTSW |
2 |
26,280,514 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8958:Ccdc187
|
UTSW |
2 |
26,275,565 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8972:Ccdc187
|
UTSW |
2 |
26,281,067 (GRCm38) |
missense |
probably benign |
|
|
R9214:Ccdc187
|
UTSW |
2 |
26,293,397 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9454:Ccdc187
|
UTSW |
2 |
26,276,102 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9542:Ccdc187
|
UTSW |
2 |
26,255,918 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9562:Ccdc187
|
UTSW |
2 |
26,293,686 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9565:Ccdc187
|
UTSW |
2 |
26,293,686 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9601:Ccdc187
|
UTSW |
2 |
26,253,433 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9702:Ccdc187
|
UTSW |
2 |
26,282,210 (GRCm38) |
missense |
unknown |
|
|
R9727:Ccdc187
|
UTSW |
2 |
26,281,192 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9790:Ccdc187
|
UTSW |
2 |
26,281,215 (GRCm38) |
missense |
probably benign |
|
|
R9791:Ccdc187
|
UTSW |
2 |
26,281,215 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Ccdc187
|
UTSW |
2 |
26,281,507 (GRCm38) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATACCCCAGACTGCATGG -3'
(R):5'- AGTAATTCTTTTGTGCAGAGGTCC -3'
Sequencing Primer
(F):5'- TGGGAACAAAAGTGACGATGCC -3'
(R):5'- TTTGTGCAGAGGTCCAGTCCC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation