Incidental Mutation 'IGL02939:Ccdc178'
| ID |
365948 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02939
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
21943954-22304453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22253775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 155
(C155S)
|
| 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: C155S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: C155S
| 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: C155S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: C155S
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6ap1 |
A |
G |
X: 73,340,924 (GRCm39) |
D47G |
probably benign |
Het |
| Atr |
T |
C |
9: 95,747,314 (GRCm39) |
F199L |
probably benign |
Het |
| Bivm |
C |
A |
1: 44,182,120 (GRCm39) |
H443N |
probably benign |
Het |
| Btnl2 |
A |
T |
17: 34,580,043 (GRCm39) |
H192L |
probably benign |
Het |
| Celsr1 |
C |
A |
15: 85,785,673 (GRCm39) |
V2934L |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,726,652 (GRCm39) |
S3294P |
probably damaging |
Het |
| Ddx10 |
T |
A |
9: 53,115,579 (GRCm39) |
E585V |
possibly damaging |
Het |
| Elapor2 |
T |
C |
5: 9,511,478 (GRCm39) |
Y947H |
probably damaging |
Het |
| Eps15l1 |
A |
T |
8: 73,138,606 (GRCm39) |
|
probably benign |
Het |
| Erlin1 |
G |
T |
19: 44,051,491 (GRCm39) |
T70K |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,534,964 (GRCm39) |
|
probably null |
Het |
| Fam124a |
G |
A |
14: 62,793,368 (GRCm39) |
|
probably null |
Het |
| Fam53a |
T |
C |
5: 33,765,103 (GRCm39) |
D201G |
probably damaging |
Het |
| Fgf14 |
C |
T |
14: 124,369,891 (GRCm39) |
G136D |
possibly damaging |
Het |
| Gdi2 |
A |
T |
13: 3,614,623 (GRCm39) |
T323S |
probably benign |
Het |
| Gemin5 |
A |
T |
11: 58,047,556 (GRCm39) |
N339K |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,364,522 (GRCm39) |
E286G |
probably benign |
Het |
| Golga4 |
A |
C |
9: 118,363,700 (GRCm39) |
K233T |
probably damaging |
Het |
| Gosr1 |
A |
G |
11: 76,641,732 (GRCm39) |
|
probably benign |
Het |
| Haus8 |
A |
G |
8: 71,708,361 (GRCm39) |
|
probably benign |
Het |
| Itgb3bp |
T |
C |
4: 99,690,373 (GRCm39) |
T49A |
probably null |
Het |
| Ldlrad4 |
A |
G |
18: 68,387,585 (GRCm39) |
D299G |
probably damaging |
Het |
| Lpo |
A |
G |
11: 87,706,004 (GRCm39) |
M273T |
possibly damaging |
Het |
| Map3k4 |
T |
A |
17: 12,491,036 (GRCm39) |
S132C |
probably damaging |
Het |
| Mycbp2 |
T |
G |
14: 103,414,715 (GRCm39) |
T2566P |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,536,284 (GRCm39) |
E1255G |
probably null |
Het |
| Nop56 |
A |
T |
2: 130,120,117 (GRCm39) |
K157N |
probably damaging |
Het |
| Or10g9 |
C |
T |
9: 39,912,194 (GRCm39) |
E110K |
probably benign |
Het |
| Or6c1 |
A |
T |
10: 129,517,857 (GRCm39) |
Y250* |
probably null |
Het |
| Pcdh15 |
A |
G |
10: 74,340,648 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,172,074 (GRCm39) |
H557R |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,181,787 (GRCm39) |
Q64* |
probably null |
Het |
| Ppp2r3c |
G |
A |
12: 55,345,192 (GRCm39) |
|
probably benign |
Het |
| Rgmb |
C |
T |
17: 16,027,755 (GRCm39) |
M321I |
probably benign |
Het |
| Rnf31 |
T |
C |
14: 55,833,131 (GRCm39) |
S363P |
probably benign |
Het |
| Sap18b |
T |
A |
8: 96,552,329 (GRCm39) |
M113K |
probably benign |
Het |
| Scara3 |
T |
A |
14: 66,169,105 (GRCm39) |
M171L |
probably benign |
Het |
| Slc9a2 |
T |
G |
1: 40,781,863 (GRCm39) |
M364R |
probably damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,666,368 (GRCm39) |
W180* |
probably null |
Het |
| Stat6 |
T |
A |
10: 127,482,809 (GRCm39) |
M10K |
probably benign |
Het |
| Sun1 |
T |
C |
5: 139,221,243 (GRCm39) |
|
probably benign |
Het |
| Tead2 |
T |
C |
7: 44,869,858 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
T |
G |
7: 64,964,638 (GRCm39) |
E844D |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,206,411 (GRCm39) |
S295P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,612,756 (GRCm39) |
R17108C |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,711,664 (GRCm39) |
|
probably null |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,545 (GRCm39) |
H326L |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,250,840 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
A |
G |
2: 77,242,403 (GRCm39) |
S439P |
probably benign |
Het |
| Zfp597 |
G |
A |
16: 3,683,805 (GRCm39) |
S317L |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,946,214 (GRCm39) |
D1081G |
probably damaging |
Het |
| Zfp93 |
C |
T |
7: 23,974,509 (GRCm39) |
H165Y |
possibly damaging |
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 |
|
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 |
|
R8670:Ccdc178
|
UTSW |
18 |
22,230,719 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation