Incidental Mutation 'R8534:Ccdc187'
ID |
659137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc187
|
Ensembl Gene |
ENSMUSG00000048038 |
Gene Name |
coiled-coil domain containing 187 |
Synonyms |
4932418E24Rik |
MMRRC Submission |
068503-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R8534 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26161659-26184569 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26165577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 860
(S860P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054283
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057224]
[ENSMUST00000217256]
[ENSMUST00000227200]
|
AlphaFold |
Q8C5V8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057224
AA Change: S860P
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000054283 Gene: ENSMUSG00000048038 AA Change: S860P
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: S860P
|
Predicted Effect |
unknown
Transcript: ENSMUST00000227200
AA Change: S899P
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
A |
C |
2: 19,545,153 (GRCm39) |
L100R |
probably damaging |
Het |
6820408C15Rik |
A |
G |
2: 152,283,182 (GRCm39) |
D282G |
probably damaging |
Het |
Abcb11 |
G |
T |
2: 69,154,190 (GRCm39) |
N125K |
possibly damaging |
Het |
Acbd7 |
A |
T |
2: 3,341,750 (GRCm39) |
D71V |
probably damaging |
Het |
Adgrb1 |
A |
T |
15: 74,415,357 (GRCm39) |
T646S |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,534,887 (GRCm39) |
Y5793H |
probably benign |
Het |
Agmo |
A |
G |
12: 37,302,538 (GRCm39) |
D125G |
probably damaging |
Het |
Ahrr |
A |
G |
13: 74,368,799 (GRCm39) |
S125P |
probably damaging |
Het |
B020011L13Rik |
C |
A |
1: 117,729,034 (GRCm39) |
H180Q |
probably benign |
Het |
Cbfa2t3 |
T |
C |
8: 123,365,653 (GRCm39) |
D219G |
probably damaging |
Het |
Ceacam5 |
A |
T |
7: 17,484,671 (GRCm39) |
Q471L |
probably benign |
Het |
Cyp2c54 |
A |
C |
19: 40,036,030 (GRCm39) |
D293E |
probably damaging |
Het |
Dnah1 |
G |
T |
14: 31,023,805 (GRCm39) |
N962K |
probably benign |
Het |
Dst |
C |
T |
1: 34,229,388 (GRCm39) |
T2002I |
probably benign |
Het |
Elavl1 |
A |
T |
8: 4,339,864 (GRCm39) |
N239K |
probably benign |
Het |
Elmod3 |
A |
G |
6: 72,543,667 (GRCm39) |
F375L |
probably benign |
Het |
G6pc2 |
T |
A |
2: 69,050,469 (GRCm39) |
N31K |
probably benign |
Het |
Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
Gm6569 |
G |
T |
15: 73,711,673 (GRCm39) |
|
probably benign |
Het |
Insig1 |
C |
T |
5: 28,280,116 (GRCm39) |
S236L |
probably damaging |
Het |
Itih4 |
A |
T |
14: 30,622,979 (GRCm39) |
N882I |
probably benign |
Het |
Kmt5a |
C |
A |
5: 124,598,635 (GRCm39) |
D309E |
probably benign |
Het |
Kndc1 |
C |
A |
7: 139,503,669 (GRCm39) |
T991N |
probably benign |
Het |
Lingo1 |
T |
A |
9: 56,528,353 (GRCm39) |
T79S |
probably benign |
Het |
Myh4 |
A |
T |
11: 67,134,335 (GRCm39) |
E330V |
probably benign |
Het |
Nlrx1 |
A |
G |
9: 44,174,070 (GRCm39) |
V377A |
probably benign |
Het |
Npy5r |
C |
A |
8: 67,134,688 (GRCm39) |
G35V |
probably benign |
Het |
Or5b102 |
T |
A |
19: 13,041,432 (GRCm39) |
I219N |
probably damaging |
Het |
Or7g33 |
C |
T |
9: 19,448,605 (GRCm39) |
G207D |
possibly damaging |
Het |
Pabpn1l |
T |
C |
8: 123,349,358 (GRCm39) |
T20A |
probably benign |
Het |
Pcf11 |
A |
G |
7: 92,302,432 (GRCm39) |
V1226A |
probably benign |
Het |
Per2 |
G |
A |
1: 91,351,659 (GRCm39) |
T949M |
probably benign |
Het |
Phc1 |
G |
A |
6: 122,315,539 (GRCm39) |
|
probably benign |
Het |
Pias2 |
A |
G |
18: 77,185,083 (GRCm39) |
I55V |
possibly damaging |
Het |
Pik3r2 |
A |
T |
8: 71,227,312 (GRCm39) |
S104T |
probably benign |
Het |
Pip |
T |
C |
6: 41,828,421 (GRCm39) |
V85A |
probably benign |
Het |
Pms2 |
T |
C |
5: 143,860,445 (GRCm39) |
V86A |
probably benign |
Het |
Potefam1 |
G |
A |
2: 111,058,380 (GRCm39) |
P138S |
possibly damaging |
Het |
Rab44 |
A |
G |
17: 29,363,547 (GRCm39) |
|
probably null |
Het |
Rrbp1 |
A |
G |
2: 143,830,095 (GRCm39) |
S691P |
probably damaging |
Het |
Ruvbl2 |
A |
T |
7: 45,079,118 (GRCm39) |
|
probably null |
Het |
Setbp1 |
T |
C |
18: 78,826,542 (GRCm39) |
D1357G |
possibly damaging |
Het |
Slc12a6 |
T |
A |
2: 112,174,312 (GRCm39) |
I476N |
probably damaging |
Het |
Slc1a1 |
C |
T |
19: 28,882,746 (GRCm39) |
P337S |
probably damaging |
Het |
Slc35b3 |
T |
A |
13: 39,128,566 (GRCm39) |
T174S |
probably benign |
Het |
Slc4a4 |
A |
T |
5: 89,283,581 (GRCm39) |
I467F |
probably damaging |
Het |
Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
Spink14 |
G |
A |
18: 44,164,079 (GRCm39) |
|
probably null |
Het |
Spmap2l |
T |
A |
5: 77,207,325 (GRCm39) |
I361N |
probably damaging |
Het |
Tmem59 |
T |
C |
4: 107,043,082 (GRCm39) |
|
probably null |
Het |
Tnr |
G |
A |
1: 159,746,585 (GRCm39) |
E1235K |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,869,459 (GRCm39) |
R2015S |
probably benign |
Het |
Tsnaxip1 |
A |
G |
8: 106,565,370 (GRCm39) |
E132G |
probably damaging |
Het |
Vps54 |
A |
G |
11: 21,227,706 (GRCm39) |
N93S |
probably benign |
Het |
Wdr17 |
T |
G |
8: 55,101,265 (GRCm39) |
I994L |
probably benign |
Het |
Zfat |
G |
T |
15: 68,037,696 (GRCm39) |
H926Q |
probably damaging |
Het |
Zfp2 |
C |
T |
11: 50,791,627 (GRCm39) |
E139K |
possibly damaging |
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 |
R6803:Ccdc187
|
UTSW |
2 |
26,179,791 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
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'- GTCTGTGTCCTCTAGGCTAACAC -3'
(R):5'- TGGTGACAATAGCTGATGCTC -3'
Sequencing Primer
(F):5'- TGTGTCCTCTAGGCTAACACTAAGAC -3'
(R):5'- ACAGGCCATAGCTGTCTTG -3'
|
Posted On |
2021-01-18 |