Incidental Mutation 'R2214:Ccdc178'
ID |
241052 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc178
|
Ensembl Gene |
ENSMUSG00000024306 |
Gene Name |
coiled coil domain containing 178 |
Synonyms |
4921528I01Rik |
MMRRC Submission |
040216-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2214 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
21943954-22304453 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22048047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 781
(D781G)
|
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: D781G
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000025160 Gene: ENSMUSG00000024306 AA Change: D781G
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: D781G
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000111503 Gene: ENSMUSG00000024306 AA Change: D781G
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
T |
C |
16: 30,926,946 (GRCm39) |
Y516C |
probably benign |
Het |
Adam22 |
C |
T |
5: 8,186,805 (GRCm39) |
|
probably null |
Het |
Akap8l |
T |
C |
17: 32,557,799 (GRCm39) |
|
probably null |
Het |
Casr |
T |
C |
16: 36,336,120 (GRCm39) |
Y63C |
probably damaging |
Het |
Col9a1 |
C |
A |
1: 24,247,283 (GRCm39) |
P168Q |
probably damaging |
Het |
Dnm2 |
T |
C |
9: 21,397,019 (GRCm39) |
|
probably null |
Het |
Dst |
C |
T |
1: 34,310,482 (GRCm39) |
T6325M |
probably damaging |
Het |
Ercc4 |
C |
A |
16: 12,927,888 (GRCm39) |
D19E |
probably damaging |
Het |
Gm1110 |
C |
A |
9: 26,813,786 (GRCm39) |
V198L |
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,396 (GRCm39) |
|
noncoding transcript |
Het |
Grm7 |
A |
T |
6: 111,335,958 (GRCm39) |
I790F |
probably damaging |
Het |
Habp2 |
A |
G |
19: 56,306,249 (GRCm39) |
D445G |
possibly damaging |
Het |
Kat7 |
G |
A |
11: 95,166,631 (GRCm39) |
T517I |
probably damaging |
Het |
Kbtbd11 |
T |
A |
8: 15,079,178 (GRCm39) |
D592E |
possibly damaging |
Het |
Lgals8 |
T |
A |
13: 12,469,713 (GRCm39) |
Q82L |
probably benign |
Het |
Lmtk3 |
A |
G |
7: 45,444,277 (GRCm39) |
|
probably benign |
Het |
Map2 |
A |
T |
1: 66,459,345 (GRCm39) |
D1530V |
probably damaging |
Het |
Map2k6 |
G |
A |
11: 110,387,167 (GRCm39) |
V180I |
probably damaging |
Het |
Map3k5 |
T |
A |
10: 19,902,035 (GRCm39) |
|
probably null |
Het |
Mtor |
A |
G |
4: 148,623,327 (GRCm39) |
E2059G |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,673,953 (GRCm39) |
D660G |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,488,803 (GRCm39) |
V658E |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,953,487 (GRCm39) |
S1090T |
possibly damaging |
Het |
Nhlrc3 |
T |
C |
3: 53,363,875 (GRCm39) |
H217R |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,166,520 (GRCm39) |
I118F |
probably damaging |
Het |
Or14a259 |
T |
A |
7: 86,013,414 (GRCm39) |
I44F |
probably benign |
Het |
Or1e29 |
A |
T |
11: 73,667,655 (GRCm39) |
L166* |
probably null |
Het |
Or4p20 |
C |
T |
2: 88,253,461 (GRCm39) |
V303M |
probably benign |
Het |
Paxip1 |
T |
C |
5: 27,947,499 (GRCm39) |
Y1053C |
probably damaging |
Het |
Pfkfb4 |
T |
A |
9: 108,834,677 (GRCm39) |
F117I |
probably benign |
Het |
Pp2d1 |
T |
C |
17: 53,822,424 (GRCm39) |
Y214C |
probably benign |
Het |
Prr7 |
C |
A |
13: 55,620,613 (GRCm39) |
S207* |
probably null |
Het |
Ptprh |
T |
A |
7: 4,555,921 (GRCm39) |
Q715L |
possibly damaging |
Het |
Rasgrp1 |
A |
T |
2: 117,115,646 (GRCm39) |
D647E |
probably damaging |
Het |
Rnf20 |
T |
A |
4: 49,648,344 (GRCm39) |
M384K |
possibly damaging |
Het |
Rps6kb1 |
A |
T |
11: 86,424,896 (GRCm39) |
C37S |
possibly damaging |
Het |
Serpinb9f |
C |
A |
13: 33,518,592 (GRCm39) |
T364K |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,285,075 (GRCm39) |
A641T |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,035,719 (GRCm39) |
|
probably benign |
Het |
Stag3 |
C |
T |
5: 138,299,528 (GRCm39) |
S849L |
possibly damaging |
Het |
Syt15 |
A |
T |
14: 33,944,989 (GRCm39) |
S179C |
probably damaging |
Het |
Tapbp |
T |
C |
17: 34,139,300 (GRCm39) |
F90L |
possibly damaging |
Het |
Timm23 |
A |
T |
14: 31,920,944 (GRCm39) |
D49E |
probably damaging |
Het |
Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
Tmem174 |
A |
C |
13: 98,773,757 (GRCm39) |
S24R |
possibly damaging |
Het |
Tmem63a |
A |
G |
1: 180,788,679 (GRCm39) |
S339G |
probably benign |
Het |
Tsc22d2 |
A |
G |
3: 58,323,627 (GRCm39) |
Y173C |
probably damaging |
Het |
Ubap2 |
A |
G |
4: 41,199,714 (GRCm39) |
|
probably null |
Het |
Upp1 |
T |
A |
11: 9,086,033 (GRCm39) |
V290E |
probably benign |
Het |
Uqcc4 |
T |
C |
17: 25,403,699 (GRCm39) |
V13A |
probably benign |
Het |
Usp17lb |
A |
T |
7: 104,490,639 (GRCm39) |
M96K |
probably benign |
Het |
Wdr20rt |
A |
G |
12: 65,274,187 (GRCm39) |
E449G |
probably damaging |
Het |
Zkscan8 |
A |
T |
13: 21,705,082 (GRCm39) |
S286T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCATGTAGAACACTCTCTCAG -3'
(R):5'- AACTAAGGAGCTTGTTGGTGTCAAG -3'
Sequencing Primer
(F):5'- CTCTCTCAGAGGCAAAGGGAAG -3'
(R):5'- TCAAGCACACATTTTCCATTATTTTG -3'
|
Posted On |
2014-10-15 |