Incidental Mutation 'R1481:Ccdc178'
| ID |
164410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc178
|
| Ensembl Gene |
ENSMUSG00000024306 |
| Gene Name |
coiled coil domain containing 178 |
| Synonyms |
4921528I01Rik |
| MMRRC Submission |
039534-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1481 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
21810897-22171396 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 22105621 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 313
(G313D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025160]
[ENSMUST00000115837]
|
| AlphaFold |
Q8CDV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025160
AA Change: G313D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: G313D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
157 |
204 |
N/A |
INTRINSIC |
|
coiled coil region
|
226 |
266 |
N/A |
INTRINSIC |
|
coiled coil region
|
292 |
404 |
N/A |
INTRINSIC |
|
coiled coil region
|
514 |
541 |
N/A |
INTRINSIC |
|
coiled coil region
|
570 |
631 |
N/A |
INTRINSIC |
|
coiled coil region
|
665 |
705 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
732 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115837
AA Change: G313D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: G313D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
157 |
204 |
N/A |
INTRINSIC |
|
coiled coil region
|
226 |
266 |
N/A |
INTRINSIC |
|
coiled coil region
|
292 |
404 |
N/A |
INTRINSIC |
|
coiled coil region
|
514 |
541 |
N/A |
INTRINSIC |
|
coiled coil region
|
570 |
631 |
N/A |
INTRINSIC |
|
coiled coil region
|
665 |
705 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
732 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef5 |
A |
G |
6: 43,274,634 (GRCm38) |
H773R |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,008,434 (GRCm38) |
V3365A |
probably damaging |
Het |
| Bmp3 |
G |
A |
5: 98,872,470 (GRCm38) |
V251M |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,101,948 (GRCm38) |
|
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 115,012,633 (GRCm38) |
I129F |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,782,385 (GRCm38) |
Q120R |
possibly damaging |
Het |
| Ckb |
T |
C |
12: 111,671,262 (GRCm38) |
H145R |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,117,663 (GRCm38) |
N336K |
probably damaging |
Het |
| Coil |
T |
A |
11: 88,974,060 (GRCm38) |
C38S |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,143,882 (GRCm38) |
V133A |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,887,810 (GRCm38) |
E943G |
probably damaging |
Het |
| Cyp2c54 |
C |
T |
19: 40,047,588 (GRCm38) |
D293N |
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 27,121,877 (GRCm38) |
S72P |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,551,866 (GRCm38) |
|
probably null |
Het |
| Dock6 |
T |
C |
9: 21,820,622 (GRCm38) |
T1158A |
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,672,643 (GRCm38) |
V469I |
probably benign |
Het |
| Efcab14 |
A |
G |
4: 115,756,517 (GRCm38) |
T221A |
probably benign |
Het |
| Ehbp1 |
T |
C |
11: 22,006,782 (GRCm38) |
*1207W |
probably null |
Het |
| Eln |
T |
C |
5: 134,706,572 (GRCm38) |
K786E |
probably damaging |
Het |
| Fyb1 |
C |
T |
15: 6,619,647 (GRCm38) |
P385S |
probably benign |
Het |
| Galr1 |
A |
G |
18: 82,405,741 (GRCm38) |
I137T |
possibly damaging |
Het |
| Gcm1 |
A |
T |
9: 78,059,717 (GRCm38) |
K73* |
probably null |
Het |
| Gemin5 |
T |
C |
11: 58,141,654 (GRCm38) |
N775D |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,613,850 (GRCm38) |
H147Y |
probably damaging |
Het |
| Gm10754 |
G |
T |
10: 97,682,227 (GRCm38) |
|
probably benign |
Het |
| Gpr37 |
T |
C |
6: 25,669,138 (GRCm38) |
D569G |
probably damaging |
Het |
| Grina |
T |
A |
15: 76,249,089 (GRCm38) |
Y286N |
probably damaging |
Het |
| Gtf3c1 |
C |
A |
7: 125,693,138 (GRCm38) |
|
probably null |
Het |
| Kcnc4 |
C |
T |
3: 107,448,218 (GRCm38) |
V305M |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,778,275 (GRCm38) |
F724L |
probably benign |
Het |
| Kpnb1 |
T |
C |
11: 97,178,310 (GRCm38) |
Y249C |
probably damaging |
Het |
| Krt6b |
T |
C |
15: 101,678,374 (GRCm38) |
T269A |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,221,634 (GRCm38) |
K1555E |
probably damaging |
Het |
| Maneal |
T |
C |
4: 124,861,857 (GRCm38) |
Y104C |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,431,171 (GRCm38) |
T1681A |
unknown |
Het |
| Mettl17 |
T |
C |
14: 51,890,703 (GRCm38) |
L272P |
probably benign |
Het |
| Mib2 |
T |
A |
4: 155,656,999 (GRCm38) |
S357C |
probably benign |
Het |
| Mmp19 |
C |
A |
10: 128,798,178 (GRCm38) |
T316K |
possibly damaging |
Het |
| Mroh9 |
C |
T |
1: 163,026,509 (GRCm38) |
G774E |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,205,499 (GRCm38) |
|
probably benign |
Het |
| Ncor2 |
C |
A |
5: 125,027,138 (GRCm38) |
E963* |
probably null |
Het |
| Nol6 |
T |
A |
4: 41,123,596 (GRCm38) |
T51S |
probably benign |
Het |
| Nsun3 |
A |
T |
16: 62,735,369 (GRCm38) |
C265S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 32,034,466 (GRCm38) |
S1669F |
probably damaging |
Het |
| Nutm2 |
T |
A |
13: 50,469,481 (GRCm38) |
N71K |
probably damaging |
Het |
| Or10a5 |
T |
G |
7: 107,036,149 (GRCm38) |
L5R |
probably benign |
Het |
| Or5p73 |
C |
T |
7: 108,465,960 (GRCm38) |
T212I |
probably benign |
Het |
| Orc3 |
T |
A |
4: 34,607,228 (GRCm38) |
E34V |
possibly damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,442,836 (GRCm38) |
L89Q |
probably damaging |
Het |
| Polr3a |
A |
T |
14: 24,452,548 (GRCm38) |
V1241E |
probably null |
Het |
| Prpf39 |
C |
T |
12: 65,053,314 (GRCm38) |
P135S |
probably damaging |
Het |
| Psrc1 |
T |
C |
3: 108,384,993 (GRCm38) |
V34A |
probably benign |
Het |
| Rab27a |
G |
A |
9: 73,082,402 (GRCm38) |
V52M |
probably benign |
Het |
| Rassf9 |
A |
G |
10: 102,546,034 (GRCm38) |
T424A |
probably benign |
Het |
| Ripor3 |
G |
T |
2: 168,000,377 (GRCm38) |
R61S |
possibly damaging |
Het |
| Ryr3 |
C |
T |
2: 112,636,522 (GRCm38) |
|
probably benign |
Het |
| Samd4b |
C |
T |
7: 28,414,010 (GRCm38) |
G177R |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 78,783,301 (GRCm38) |
V1366M |
probably benign |
Het |
| Smad1 |
G |
A |
8: 79,343,730 (GRCm38) |
A393V |
probably benign |
Het |
| Tctn2 |
T |
C |
5: 124,607,763 (GRCm38) |
|
noncoding transcript |
Het |
| Tmem45a |
A |
T |
16: 56,811,602 (GRCm38) |
F218I |
possibly damaging |
Het |
| Tpte |
A |
T |
8: 22,355,471 (GRCm38) |
R512S |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,129,759 (GRCm38) |
L22* |
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,737,130 (GRCm38) |
N1792D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,945,616 (GRCm38) |
M1694T |
probably damaging |
Het |
| Vmn1r181 |
T |
A |
7: 23,984,712 (GRCm38) |
W201R |
probably damaging |
Het |
| Wdr74 |
C |
T |
19: 8,738,228 (GRCm38) |
L198F |
possibly damaging |
Het |
| Zfp560 |
T |
C |
9: 20,348,790 (GRCm38) |
T259A |
probably benign |
Het |
|
| Other mutations in Ccdc178 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Ccdc178
|
APN |
18 |
21,844,911 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL00743:Ccdc178
|
APN |
18 |
22,145,444 (GRCm38) |
splice site |
probably benign |
|
|
IGL00906:Ccdc178
|
APN |
18 |
22,135,168 (GRCm38) |
nonsense |
probably null |
|
|
IGL01352:Ccdc178
|
APN |
18 |
22,018,974 (GRCm38) |
splice site |
probably benign |
|
|
IGL01553:Ccdc178
|
APN |
18 |
21,915,006 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01607:Ccdc178
|
APN |
18 |
22,067,721 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01733:Ccdc178
|
APN |
18 |
22,024,812 (GRCm38) |
splice site |
probably benign |
|
|
IGL01795:Ccdc178
|
APN |
18 |
22,019,118 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01996:Ccdc178
|
APN |
18 |
22,097,756 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02939:Ccdc178
|
APN |
18 |
22,120,718 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03213:Ccdc178
|
APN |
18 |
22,120,691 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL03253:Ccdc178
|
APN |
18 |
21,845,011 (GRCm38) |
nonsense |
probably null |
|
|
IGL03331:Ccdc178
|
APN |
18 |
21,811,583 (GRCm38) |
splice site |
probably null |
|
|
PIT4520001:Ccdc178
|
UTSW |
18 |
22,067,413 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0121:Ccdc178
|
UTSW |
18 |
21,845,024 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0153:Ccdc178
|
UTSW |
18 |
22,150,435 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0364:Ccdc178
|
UTSW |
18 |
21,915,062 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0604:Ccdc178
|
UTSW |
18 |
22,067,443 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0709:Ccdc178
|
UTSW |
18 |
22,067,662 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0961:Ccdc178
|
UTSW |
18 |
22,019,041 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R1029:Ccdc178
|
UTSW |
18 |
22,097,725 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1456:Ccdc178
|
UTSW |
18 |
22,150,424 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1596:Ccdc178
|
UTSW |
18 |
22,020,873 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R1739:Ccdc178
|
UTSW |
18 |
22,097,723 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1838:Ccdc178
|
UTSW |
18 |
22,067,638 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2214:Ccdc178
|
UTSW |
18 |
21,914,990 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R2401:Ccdc178
|
UTSW |
18 |
22,131,414 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2679:Ccdc178
|
UTSW |
18 |
21,811,556 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3051:Ccdc178
|
UTSW |
18 |
22,135,131 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3150:Ccdc178
|
UTSW |
18 |
22,067,652 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3151:Ccdc178
|
UTSW |
18 |
21,811,561 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3177:Ccdc178
|
UTSW |
18 |
22,067,652 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3277:Ccdc178
|
UTSW |
18 |
22,067,652 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3903:Ccdc178
|
UTSW |
18 |
22,023,095 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R4184:Ccdc178
|
UTSW |
18 |
22,024,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4258:Ccdc178
|
UTSW |
18 |
22,017,335 (GRCm38) |
splice site |
probably null |
|
|
R4319:Ccdc178
|
UTSW |
18 |
22,033,543 (GRCm38) |
nonsense |
probably null |
|
|
R4321:Ccdc178
|
UTSW |
18 |
22,033,543 (GRCm38) |
nonsense |
probably null |
|
|
R4323:Ccdc178
|
UTSW |
18 |
22,033,543 (GRCm38) |
nonsense |
probably null |
|
|
R4509:Ccdc178
|
UTSW |
18 |
22,067,392 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4672:Ccdc178
|
UTSW |
18 |
22,150,444 (GRCm38) |
nonsense |
probably null |
|
|
R5078:Ccdc178
|
UTSW |
18 |
22,067,628 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5099:Ccdc178
|
UTSW |
18 |
22,105,591 (GRCm38) |
missense |
probably benign |
|
|
R5679:Ccdc178
|
UTSW |
18 |
22,067,429 (GRCm38) |
missense |
probably benign |
|
|
R5683:Ccdc178
|
UTSW |
18 |
22,130,122 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6120:Ccdc178
|
UTSW |
18 |
22,097,728 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6318:Ccdc178
|
UTSW |
18 |
22,120,534 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6717:Ccdc178
|
UTSW |
18 |
22,020,889 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6853:Ccdc178
|
UTSW |
18 |
22,109,876 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6980:Ccdc178
|
UTSW |
18 |
22,105,563 (GRCm38) |
missense |
probably benign |
|
|
R7019:Ccdc178
|
UTSW |
18 |
22,150,438 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7246:Ccdc178
|
UTSW |
18 |
22,109,754 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7322:Ccdc178
|
UTSW |
18 |
22,105,549 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7340:Ccdc178
|
UTSW |
18 |
22,017,461 (GRCm38) |
missense |
probably benign |
0.17 |
|
R7371:Ccdc178
|
UTSW |
18 |
22,130,138 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8003:Ccdc178
|
UTSW |
18 |
21,844,887 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8371:Ccdc178
|
UTSW |
18 |
21,811,504 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8670:Ccdc178
|
UTSW |
18 |
22,097,662 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8695:Ccdc178
|
UTSW |
18 |
22,024,752 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8885:Ccdc178
|
UTSW |
18 |
22,067,664 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9504:Ccdc178
|
UTSW |
18 |
22,105,651 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9518:Ccdc178
|
UTSW |
18 |
22,145,459 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
X0063:Ccdc178
|
UTSW |
18 |
21,844,912 (GRCm38) |
missense |
probably benign |
0.12 |
|
Z1177:Ccdc178
|
UTSW |
18 |
22,109,731 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCAGGCGACAGGGAGATACATTG -3'
(R):5'- AGGAAGACAGAACCCTATTCCCTTAGC -3'
Sequencing Primer
(F):5'- CAGGGAGATACATTGCTTTTATGCC -3'
(R):5'- TCCCTTAGCTGTACACATTTAGAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation