Incidental Mutation 'R8670:Ccdc178'
| ID |
661132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc178
|
| Ensembl Gene |
ENSMUSG00000024306 |
| Gene Name |
coiled coil domain containing 178 |
| Synonyms |
4921528I01Rik |
| MMRRC Submission |
068525-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8670 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
21943954-22304453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22230719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 384
(E384G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025160]
[ENSMUST00000115837]
|
| AlphaFold |
Q8CDV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025160
AA Change: E384G
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: E384G
| 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 |
possibly damaging
Transcript: ENSMUST00000115837
AA Change: E384G
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: E384G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,966,424 (GRCm39) |
L403Q |
probably damaging |
Het |
| Actl11 |
T |
C |
9: 107,805,959 (GRCm39) |
F94S |
possibly damaging |
Het |
| Adam34 |
C |
T |
8: 44,105,126 (GRCm39) |
C173Y |
possibly damaging |
Het |
| Ankrd24 |
C |
T |
10: 81,465,526 (GRCm39) |
|
probably benign |
Het |
| Armh2 |
A |
G |
13: 24,930,240 (GRCm39) |
E162G |
probably benign |
Het |
| Atp12a |
A |
T |
14: 56,617,546 (GRCm39) |
D612V |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Cd82 |
T |
A |
2: 93,250,905 (GRCm39) |
T212S |
probably benign |
Het |
| Cdk17 |
T |
A |
10: 93,061,958 (GRCm39) |
L263* |
probably null |
Het |
| Cfap57 |
T |
G |
4: 118,472,122 (GRCm39) |
I86L |
possibly damaging |
Het |
| Chd5 |
T |
C |
4: 152,469,953 (GRCm39) |
M1842T |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,378,588 (GRCm39) |
F691S |
probably damaging |
Het |
| Cpvl |
A |
T |
6: 53,951,780 (GRCm39) |
M1K |
probably null |
Het |
| Cym |
T |
C |
3: 107,118,812 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
T |
C |
14: 86,893,835 (GRCm39) |
E1147G |
probably benign |
Het |
| Eif4g3 |
T |
G |
4: 137,885,823 (GRCm39) |
|
probably null |
Het |
| Esp3 |
A |
G |
17: 40,943,040 (GRCm39) |
D11G |
probably benign |
Het |
| Exoc1 |
A |
G |
5: 76,717,505 (GRCm39) |
Y865C |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,108,791 (GRCm39) |
Q273L |
probably damaging |
Het |
| Fuca1 |
G |
A |
4: 135,650,282 (GRCm39) |
V118I |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,478,542 (GRCm39) |
N417D |
probably benign |
Het |
| Il1rl1 |
A |
T |
1: 40,480,559 (GRCm39) |
I63F |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,741,349 (GRCm39) |
Y785C |
probably damaging |
Het |
| Kif5b |
A |
C |
18: 6,214,631 (GRCm39) |
S599A |
probably benign |
Het |
| Klhl22 |
T |
A |
16: 17,594,327 (GRCm39) |
I152N |
probably damaging |
Het |
| Mex3c |
GC |
G |
18: 73,722,776 (GRCm39) |
|
probably null |
Het |
| Muc21 |
T |
A |
17: 35,932,540 (GRCm39) |
T549S |
unknown |
Het |
| Or52n2c |
A |
T |
7: 104,574,419 (GRCm39) |
M184K |
probably damaging |
Het |
| Or8g2 |
A |
G |
9: 39,821,719 (GRCm39) |
I207V |
probably benign |
Het |
| Orc3 |
A |
T |
4: 34,572,529 (GRCm39) |
I633N |
probably damaging |
Het |
| Pclo |
G |
A |
5: 14,732,061 (GRCm39) |
R3521H |
unknown |
Het |
| Plec |
A |
G |
15: 76,061,726 (GRCm39) |
L2737P |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,159,186 (GRCm39) |
I813F |
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,207,621 (GRCm39) |
M517K |
probably damaging |
Het |
| Rab8a |
TA |
TAA |
8: 72,925,130 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,349,563 (GRCm39) |
L3808P |
|
Het |
| Scnn1b |
A |
G |
7: 121,498,472 (GRCm39) |
K4R |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,923,387 (GRCm39) |
S453P |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,784,849 (GRCm39) |
K165E |
probably damaging |
Het |
| Slc49a4 |
G |
T |
16: 35,556,005 (GRCm39) |
Q152K |
possibly damaging |
Het |
| Slco1a7 |
G |
A |
6: 141,711,468 (GRCm39) |
T81I |
possibly damaging |
Het |
| Smarce1 |
T |
C |
11: 99,101,098 (GRCm39) |
T345A |
possibly damaging |
Het |
| Spty2d1 |
T |
C |
7: 46,647,519 (GRCm39) |
N470S |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,776,587 (GRCm39) |
D763V |
probably damaging |
Het |
| Tbl1xr1 |
A |
T |
3: 22,245,164 (GRCm39) |
E171D |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,746 (GRCm39) |
I1392K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,739,774 (GRCm39) |
E827G |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,191,067 (GRCm39) |
Y185C |
probably damaging |
Het |
| Vmn2r18 |
C |
A |
5: 151,485,854 (GRCm39) |
D547Y |
probably damaging |
Het |
| Wdpcp |
T |
C |
11: 21,645,196 (GRCm39) |
V208A |
probably benign |
Het |
| Zfp322a |
T |
A |
13: 23,541,274 (GRCm39) |
Q156L |
possibly damaging |
Het |
| Zfp947 |
T |
C |
17: 22,364,687 (GRCm39) |
D329G |
probably benign |
Het |
|
| Other mutations in Ccdc178 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Ccdc178
|
APN |
18 |
21,977,968 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00743:Ccdc178
|
APN |
18 |
22,278,501 (GRCm39) |
splice site |
probably benign |
|
|
IGL00906:Ccdc178
|
APN |
18 |
22,268,225 (GRCm39) |
nonsense |
probably null |
|
|
IGL01352:Ccdc178
|
APN |
18 |
22,152,031 (GRCm39) |
splice site |
probably benign |
|
|
IGL01553:Ccdc178
|
APN |
18 |
22,048,063 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01607:Ccdc178
|
APN |
18 |
22,200,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01733:Ccdc178
|
APN |
18 |
22,157,869 (GRCm39) |
splice site |
probably benign |
|
|
IGL01795:Ccdc178
|
APN |
18 |
22,152,175 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01996:Ccdc178
|
APN |
18 |
22,230,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02939:Ccdc178
|
APN |
18 |
22,253,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03213:Ccdc178
|
APN |
18 |
22,253,748 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03253:Ccdc178
|
APN |
18 |
21,978,068 (GRCm39) |
nonsense |
probably null |
|
|
IGL03331:Ccdc178
|
APN |
18 |
21,944,640 (GRCm39) |
splice site |
probably null |
|
|
PIT4520001:Ccdc178
|
UTSW |
18 |
22,200,470 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0121:Ccdc178
|
UTSW |
18 |
21,978,081 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0153:Ccdc178
|
UTSW |
18 |
22,283,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0364:Ccdc178
|
UTSW |
18 |
22,048,119 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0604:Ccdc178
|
UTSW |
18 |
22,200,500 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0709:Ccdc178
|
UTSW |
18 |
22,200,719 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0961:Ccdc178
|
UTSW |
18 |
22,152,098 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1029:Ccdc178
|
UTSW |
18 |
22,230,782 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1456:Ccdc178
|
UTSW |
18 |
22,283,481 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1481:Ccdc178
|
UTSW |
18 |
22,238,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1596:Ccdc178
|
UTSW |
18 |
22,153,930 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1739:Ccdc178
|
UTSW |
18 |
22,230,780 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1838:Ccdc178
|
UTSW |
18 |
22,200,695 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2214:Ccdc178
|
UTSW |
18 |
22,048,047 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2401:Ccdc178
|
UTSW |
18 |
22,264,471 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2679:Ccdc178
|
UTSW |
18 |
21,944,613 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3051:Ccdc178
|
UTSW |
18 |
22,268,188 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3150:Ccdc178
|
UTSW |
18 |
22,200,709 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3151:Ccdc178
|
UTSW |
18 |
21,944,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3177:Ccdc178
|
UTSW |
18 |
22,200,709 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3277:Ccdc178
|
UTSW |
18 |
22,200,709 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3903:Ccdc178
|
UTSW |
18 |
22,156,152 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4184:Ccdc178
|
UTSW |
18 |
22,157,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4258:Ccdc178
|
UTSW |
18 |
22,150,392 (GRCm39) |
splice site |
probably null |
|
|
R4319:Ccdc178
|
UTSW |
18 |
22,166,600 (GRCm39) |
nonsense |
probably null |
|
|
R4321:Ccdc178
|
UTSW |
18 |
22,166,600 (GRCm39) |
nonsense |
probably null |
|
|
R4323:Ccdc178
|
UTSW |
18 |
22,166,600 (GRCm39) |
nonsense |
probably null |
|
|
R4509:Ccdc178
|
UTSW |
18 |
22,200,449 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4672:Ccdc178
|
UTSW |
18 |
22,283,501 (GRCm39) |
nonsense |
probably null |
|
|
R5078:Ccdc178
|
UTSW |
18 |
22,200,685 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5099:Ccdc178
|
UTSW |
18 |
22,238,648 (GRCm39) |
missense |
probably benign |
|
|
R5679:Ccdc178
|
UTSW |
18 |
22,200,486 (GRCm39) |
missense |
probably benign |
|
|
R5683:Ccdc178
|
UTSW |
18 |
22,263,179 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6120:Ccdc178
|
UTSW |
18 |
22,230,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6318:Ccdc178
|
UTSW |
18 |
22,253,591 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6717:Ccdc178
|
UTSW |
18 |
22,153,946 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6853:Ccdc178
|
UTSW |
18 |
22,242,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6980:Ccdc178
|
UTSW |
18 |
22,238,620 (GRCm39) |
missense |
probably benign |
|
|
R7019:Ccdc178
|
UTSW |
18 |
22,283,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7246:Ccdc178
|
UTSW |
18 |
22,242,811 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7322:Ccdc178
|
UTSW |
18 |
22,238,606 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7340:Ccdc178
|
UTSW |
18 |
22,150,518 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7371:Ccdc178
|
UTSW |
18 |
22,263,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8003:Ccdc178
|
UTSW |
18 |
21,977,944 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8371:Ccdc178
|
UTSW |
18 |
21,944,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8695:Ccdc178
|
UTSW |
18 |
22,157,809 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8885:Ccdc178
|
UTSW |
18 |
22,200,721 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9504:Ccdc178
|
UTSW |
18 |
22,238,708 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9518:Ccdc178
|
UTSW |
18 |
22,278,516 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0063:Ccdc178
|
UTSW |
18 |
21,977,969 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Ccdc178
|
UTSW |
18 |
22,242,788 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTCTCTTGAGTTGTCAAATCTC -3'
(R):5'- GAAATTTAGAACTGCTGTGGGATG -3'
Sequencing Primer
(F):5'- GTCAAATCTCTTCTGCTATTCAACAG -3'
(R):5'- CTGCTGTGGGATGGGAGAATTTTAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation