Incidental Mutation 'R3277:Ccdc178'
| ID |
475862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc178
|
| Ensembl Gene |
ENSMUSG00000024306 |
| Gene Name |
coiled coil domain containing 178 |
| Synonyms |
4921528I01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3277 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
21810897-22171396 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 22067652 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 416
(A416E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025160]
[ENSMUST00000115837]
|
| AlphaFold |
Q8CDV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025160
AA Change: A416E
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: A416E
| 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: A416E
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: A416E
| 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 |
0.1466 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,472,100 |
R553G |
possibly damaging |
Het |
| Adarb2 |
A |
G |
13: 8,752,627 |
N646S |
probably damaging |
Het |
| Adcy8 |
C |
T |
15: 64,699,159 |
G1242S |
probably benign |
Het |
| Ano9 |
T |
A |
7: 141,104,124 |
T543S |
probably damaging |
Het |
| Btnl10 |
A |
G |
11: 58,922,390 |
K282E |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,169,676 |
D330G |
probably damaging |
Het |
| Cdx2 |
A |
T |
5: 147,303,192 |
S225T |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,911,359 |
I843M |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,437,964 |
|
probably null |
Het |
| Cyp4f18 |
T |
C |
8: 71,993,200 |
D317G |
possibly damaging |
Het |
| Dennd4a |
G |
T |
9: 64,888,993 |
R767L |
probably damaging |
Het |
| Dgkb |
G |
A |
12: 38,084,217 |
V41M |
probably damaging |
Het |
| Duox1 |
T |
C |
2: 122,340,116 |
Y1206H |
probably damaging |
Het |
| Dync1i1 |
T |
C |
6: 5,972,211 |
|
probably null |
Het |
| Fbxw2 |
T |
C |
2: 34,822,750 |
T100A |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 28,091,661 |
H782Q |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,214,888 |
Q1455L |
unknown |
Het |
| Frrs1 |
T |
C |
3: 116,899,224 |
F49S |
probably damaging |
Het |
| Gli3 |
A |
T |
13: 15,725,982 |
Q1318L |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 41,288,380 |
E362G |
probably benign |
Het |
| Gm7104 |
A |
T |
12: 88,285,728 |
|
noncoding transcript |
Het |
| Gpatch2l |
A |
G |
12: 86,244,315 |
T91A |
possibly damaging |
Het |
| Hacd4 |
T |
C |
4: 88,437,510 |
H46R |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 56,153,428 |
V2175A |
probably benign |
Het |
| Hey1 |
T |
C |
3: 8,664,891 |
S169G |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,128,969 |
T437K |
probably benign |
Het |
| Hlf |
T |
C |
11: 90,345,835 |
K199E |
probably damaging |
Het |
| Hpgd |
C |
A |
8: 56,298,413 |
A92E |
probably damaging |
Het |
| Hsp90aa1 |
T |
A |
12: 110,695,680 |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,695,681 |
|
probably null |
Het |
| Itgad |
C |
A |
7: 128,190,981 |
H651N |
possibly damaging |
Het |
| Itgav |
A |
G |
2: 83,776,542 |
D409G |
probably damaging |
Het |
| Kif2a |
A |
G |
13: 106,976,756 |
I455T |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,692,077 |
C51Y |
probably damaging |
Het |
| Lamc3 |
G |
T |
2: 31,908,625 |
G448C |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,276,480 |
G425D |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,359,278 |
|
probably null |
Het |
| Mag |
C |
T |
7: 30,901,648 |
|
probably null |
Het |
| Mdh1b |
G |
A |
1: 63,711,531 |
T426M |
possibly damaging |
Het |
| Nr1h4 |
G |
A |
10: 89,478,788 |
T282I |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,930,752 |
E26K |
possibly damaging |
Het |
| Olfr1231 |
C |
T |
2: 89,303,218 |
V125M |
possibly damaging |
Het |
| Olfr1412 |
A |
G |
1: 92,588,813 |
N161S |
probably benign |
Het |
| Olfr552 |
T |
C |
7: 102,604,576 |
V74A |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,735,389 |
L307P |
probably damaging |
Het |
| Parp9 |
T |
C |
16: 35,948,208 |
S20P |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,113,264 |
F963L |
probably damaging |
Het |
| Pwp1 |
C |
T |
10: 85,882,079 |
L294F |
probably benign |
Het |
| Radil |
A |
G |
5: 142,506,856 |
L339P |
probably damaging |
Het |
| Raver1 |
G |
A |
9: 21,079,277 |
P316S |
possibly damaging |
Het |
| Rell1 |
A |
G |
5: 63,926,987 |
|
probably null |
Het |
| Rxrg |
A |
G |
1: 167,635,700 |
D257G |
possibly damaging |
Het |
| Sema4c |
C |
T |
1: 36,549,879 |
R722H |
possibly damaging |
Het |
| Sgk1 |
C |
T |
10: 21,996,601 |
R171W |
probably damaging |
Het |
| Spata7 |
A |
G |
12: 98,637,598 |
N75D |
possibly damaging |
Het |
| Ttc23l |
A |
G |
15: 10,547,232 |
F99L |
possibly damaging |
Het |
| Unc13a |
A |
C |
8: 71,629,695 |
C1642G |
probably benign |
Het |
| Usp36 |
C |
T |
11: 118,276,759 |
|
probably null |
Het |
| Wrn |
A |
G |
8: 33,317,554 |
M292T |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 87,782,331 |
Y462H |
probably damaging |
Het |
| Zscan5b |
T |
A |
7: 6,231,346 |
Y124N |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 13,277,270 |
T51A |
possibly damaging |
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 |
|
R1481:Ccdc178
|
UTSW |
18 |
22,105,621 (GRCm38) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Posted On |
2017-05-11 |
Incidental Mutation