Incidental Mutation 'R6803:Ccdc187'
| ID |
533415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc187
|
| Ensembl Gene |
ENSMUSG00000048038 |
| Gene Name |
coiled-coil domain containing 187 |
| Synonyms |
4932418E24Rik |
| MMRRC Submission |
044916-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R6803 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26161659-26184569 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26179791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 223
(T223S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057224]
[ENSMUST00000217256]
[ENSMUST00000227200]
|
| AlphaFold |
Q8C5V8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057224
AA Change: T223S
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: T223S
| 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: T223S
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000227200
AA Change: T223S
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg9 |
A |
C |
9: 50,700,860 (GRCm39) |
D210A |
probably benign |
Het |
| As3mt |
T |
G |
19: 46,698,020 (GRCm39) |
M120R |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,988,340 (GRCm39) |
S270C |
probably null |
Het |
| Car5a |
A |
C |
8: 122,650,504 (GRCm39) |
|
probably null |
Het |
| Cel |
T |
C |
2: 28,448,060 (GRCm39) |
N322S |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,802,279 (GRCm39) |
E2185G |
possibly damaging |
Het |
| Clcnkb |
T |
C |
4: 141,132,639 (GRCm39) |
T597A |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,068,060 (GRCm39) |
Y24C |
possibly damaging |
Het |
| Cog3 |
A |
G |
14: 75,941,479 (GRCm39) |
S817P |
probably benign |
Het |
| Col8a2 |
A |
G |
4: 126,205,793 (GRCm39) |
Y601C |
probably damaging |
Het |
| Cpm |
G |
T |
10: 117,512,002 (GRCm39) |
|
probably null |
Het |
| Cpt2 |
T |
C |
4: 107,769,861 (GRCm39) |
N79S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,016,198 (GRCm39) |
T314A |
probably benign |
Het |
| Dnm1 |
C |
A |
2: 32,202,766 (GRCm39) |
V46F |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,908,083 (GRCm39) |
V2640M |
probably damaging |
Het |
| Fbxl2 |
A |
T |
9: 113,813,617 (GRCm39) |
C296S |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,802,637 (GRCm39) |
T1522A |
probably benign |
Het |
| Foxl2 |
A |
C |
9: 98,837,985 (GRCm39) |
K91T |
probably damaging |
Het |
| Hdac11 |
G |
T |
6: 91,143,247 (GRCm39) |
R131L |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 106,993,766 (GRCm39) |
I723V |
probably benign |
Het |
| Klhl33 |
A |
G |
14: 51,134,192 (GRCm39) |
L150P |
probably damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,647,261 (GRCm39) |
H65R |
probably damaging |
Het |
| Larp7 |
T |
C |
3: 127,330,685 (GRCm39) |
|
probably null |
Het |
| Ldlrad3 |
T |
C |
2: 101,943,892 (GRCm39) |
D60G |
possibly damaging |
Het |
| Mlip |
A |
T |
9: 77,097,663 (GRCm39) |
H177Q |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,730 (GRCm39) |
D298G |
probably benign |
Het |
| Npas2 |
A |
C |
1: 39,375,130 (GRCm39) |
S483R |
probably benign |
Het |
| Nrg3 |
C |
A |
14: 38,733,957 (GRCm39) |
E310* |
probably null |
Het |
| Omg |
T |
A |
11: 79,393,094 (GRCm39) |
T255S |
possibly damaging |
Het |
| Or2y12 |
T |
A |
11: 49,426,432 (GRCm39) |
L140H |
probably damaging |
Het |
| Or56b1b |
G |
T |
7: 108,164,620 (GRCm39) |
D127E |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,340,626 (GRCm39) |
D578G |
probably damaging |
Het |
| Pygo1 |
A |
G |
9: 72,850,267 (GRCm39) |
K39E |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,089,994 (GRCm39) |
D66G |
probably damaging |
Het |
| Samd9l |
A |
T |
6: 3,375,446 (GRCm39) |
I605K |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,505,970 (GRCm39) |
S593P |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,552,210 (GRCm39) |
V545A |
probably benign |
Het |
| Speer4f1 |
T |
A |
5: 17,684,388 (GRCm39) |
|
probably null |
Het |
| Spem1 |
T |
C |
11: 69,711,974 (GRCm39) |
E230G |
possibly damaging |
Het |
| Sphkap |
A |
G |
1: 83,258,231 (GRCm39) |
F171L |
probably damaging |
Het |
| Tbc1d13 |
T |
C |
2: 30,025,522 (GRCm39) |
|
probably benign |
Het |
| Tmem222 |
A |
T |
4: 132,994,154 (GRCm39) |
N206K |
probably benign |
Het |
| Trnau1ap |
C |
T |
4: 132,049,081 (GRCm39) |
V41M |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,769,387 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,766,368 (GRCm39) |
|
probably null |
Het |
| Uox |
T |
G |
3: 146,318,264 (GRCm39) |
V55G |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,755,960 (GRCm39) |
I11F |
possibly damaging |
Het |
| Wasf2 |
T |
C |
4: 132,922,220 (GRCm39) |
|
probably null |
Het |
| Wdr97 |
A |
G |
15: 76,240,776 (GRCm39) |
Y488C |
probably damaging |
Het |
| Zbtb4 |
T |
C |
11: 69,669,454 (GRCm39) |
S726P |
possibly damaging |
Het |
| Zfp534 |
C |
T |
4: 147,758,926 (GRCm39) |
C581Y |
probably damaging |
Het |
| Zfp551 |
A |
T |
7: 12,151,108 (GRCm39) |
C100* |
probably null |
Het |
|
| Other mutations in Ccdc187 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01868:Ccdc187
|
APN |
2 |
26,170,960 (GRCm39) |
missense |
probably benign |
|
|
IGL02989:Ccdc187
|
APN |
2 |
26,166,443 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03017:Ccdc187
|
APN |
2 |
26,170,978 (GRCm39) |
missense |
probably benign |
|
|
IGL03059:Ccdc187
|
APN |
2 |
26,184,253 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03117:Ccdc187
|
APN |
2 |
26,177,980 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0026:Ccdc187
|
UTSW |
2 |
26,171,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0144:Ccdc187
|
UTSW |
2 |
26,166,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1078:Ccdc187
|
UTSW |
2 |
26,184,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1226:Ccdc187
|
UTSW |
2 |
26,166,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1624:Ccdc187
|
UTSW |
2 |
26,171,087 (GRCm39) |
missense |
probably benign |
|
|
R1733:Ccdc187
|
UTSW |
2 |
26,183,670 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1851:Ccdc187
|
UTSW |
2 |
26,166,080 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2304:Ccdc187
|
UTSW |
2 |
26,171,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4278:Ccdc187
|
UTSW |
2 |
26,172,239 (GRCm39) |
intron |
probably benign |
|
|
R4344:Ccdc187
|
UTSW |
2 |
26,170,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5151:Ccdc187
|
UTSW |
2 |
26,183,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Ccdc187
|
UTSW |
2 |
26,166,104 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5537:Ccdc187
|
UTSW |
2 |
26,166,237 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5761:Ccdc187
|
UTSW |
2 |
26,166,104 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5762:Ccdc187
|
UTSW |
2 |
26,166,104 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5865:Ccdc187
|
UTSW |
2 |
26,183,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5925:Ccdc187
|
UTSW |
2 |
26,183,593 (GRCm39) |
missense |
probably benign |
|
|
R6261:Ccdc187
|
UTSW |
2 |
26,166,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6888:Ccdc187
|
UTSW |
2 |
26,179,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6958:Ccdc187
|
UTSW |
2 |
26,179,731 (GRCm39) |
missense |
probably benign |
|
|
R7006:Ccdc187
|
UTSW |
2 |
26,171,102 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7358:Ccdc187
|
UTSW |
2 |
26,146,007 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7818:Ccdc187
|
UTSW |
2 |
26,166,186 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8048:Ccdc187
|
UTSW |
2 |
26,183,526 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8327:Ccdc187
|
UTSW |
2 |
26,170,630 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8353:Ccdc187
|
UTSW |
2 |
26,166,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8425:Ccdc187
|
UTSW |
2 |
26,171,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8453:Ccdc187
|
UTSW |
2 |
26,166,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8461:Ccdc187
|
UTSW |
2 |
26,183,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8534:Ccdc187
|
UTSW |
2 |
26,165,577 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8694:Ccdc187
|
UTSW |
2 |
26,165,505 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8745:Ccdc187
|
UTSW |
2 |
26,170,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8958:Ccdc187
|
UTSW |
2 |
26,165,577 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8972:Ccdc187
|
UTSW |
2 |
26,171,079 (GRCm39) |
missense |
probably benign |
|
|
R9214:Ccdc187
|
UTSW |
2 |
26,183,409 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9454:Ccdc187
|
UTSW |
2 |
26,166,114 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9542:Ccdc187
|
UTSW |
2 |
26,145,930 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9562:Ccdc187
|
UTSW |
2 |
26,183,698 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9565:Ccdc187
|
UTSW |
2 |
26,183,698 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9601:Ccdc187
|
UTSW |
2 |
26,143,445 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9702:Ccdc187
|
UTSW |
2 |
26,172,222 (GRCm39) |
missense |
unknown |
|
|
R9727:Ccdc187
|
UTSW |
2 |
26,171,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9790:Ccdc187
|
UTSW |
2 |
26,171,227 (GRCm39) |
missense |
probably benign |
|
|
R9791:Ccdc187
|
UTSW |
2 |
26,171,227 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ccdc187
|
UTSW |
2 |
26,171,519 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTTGGGAGGCAGAGCATAAG -3'
(R):5'- CAGAGCAAGATGTTTGTGCTGG -3'
Sequencing Primer
(F):5'- GAGCATAAGAACCCAGACTCCTAGG -3'
(R):5'- GTGCGACTTTTAAATCACAATGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation