Incidental Mutation 'R5683:Ccdc178'
ID |
443208 |
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 # |
R5683 (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 A
at 22263179 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 143
(K143N)
|
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: K143N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000025160 Gene: ENSMUSG00000024306 AA Change: K143N
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: K143N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000111503 Gene: ENSMUSG00000024306 AA Change: K143N
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: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
A |
C |
11: 72,093,266 (GRCm39) |
M22R |
probably benign |
Het |
Acad11 |
A |
G |
9: 103,961,482 (GRCm39) |
E397G |
probably damaging |
Het |
Actrt3 |
A |
T |
3: 30,652,427 (GRCm39) |
D222E |
probably benign |
Het |
Akap11 |
A |
T |
14: 78,750,018 (GRCm39) |
S790T |
probably damaging |
Het |
Arhgap5 |
T |
A |
12: 52,566,369 (GRCm39) |
D1113E |
probably benign |
Het |
Arl2 |
C |
A |
19: 6,184,794 (GRCm39) |
R153L |
probably benign |
Het |
B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
Ccdc138 |
C |
A |
10: 58,376,641 (GRCm39) |
Q425K |
probably damaging |
Het |
Cd200r4 |
T |
A |
16: 44,653,311 (GRCm39) |
I73K |
probably benign |
Het |
Chaf1b |
A |
G |
16: 93,684,030 (GRCm39) |
K94E |
possibly damaging |
Het |
Cmtm2a |
T |
C |
8: 105,019,676 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Fnbp4 |
C |
A |
2: 90,583,206 (GRCm39) |
N277K |
probably damaging |
Het |
Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
Itsn1 |
T |
C |
16: 91,702,268 (GRCm39) |
Y37H |
probably benign |
Het |
Kdm8 |
A |
G |
7: 125,054,345 (GRCm39) |
Y16C |
possibly damaging |
Het |
Kif1b |
A |
T |
4: 149,306,718 (GRCm39) |
Y881N |
probably damaging |
Het |
Lhcgr |
C |
T |
17: 89,079,447 (GRCm39) |
V80I |
probably benign |
Het |
Lrriq1 |
T |
A |
10: 103,009,236 (GRCm39) |
L1082F |
probably damaging |
Het |
Met |
A |
G |
6: 17,571,743 (GRCm39) |
Y1354C |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,536,007 (GRCm39) |
L2859P |
possibly damaging |
Het |
Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
Nlrp4e |
T |
C |
7: 23,052,697 (GRCm39) |
I872T |
probably damaging |
Het |
Npnt |
A |
T |
3: 132,612,601 (GRCm39) |
|
probably null |
Het |
Nsd1 |
G |
A |
13: 55,393,961 (GRCm39) |
V521I |
probably benign |
Het |
Or2n1e |
G |
A |
17: 38,586,437 (GRCm39) |
M258I |
possibly damaging |
Het |
Pak6 |
T |
A |
2: 118,524,393 (GRCm39) |
Y469N |
probably damaging |
Het |
Parp4 |
C |
T |
14: 56,884,886 (GRCm39) |
R1322* |
probably null |
Het |
Pax6 |
T |
C |
2: 105,516,252 (GRCm39) |
Y177H |
probably benign |
Het |
Pcdhb4 |
A |
T |
18: 37,442,042 (GRCm39) |
T451S |
probably benign |
Het |
Pcdhgb5 |
A |
T |
18: 37,864,907 (GRCm39) |
D234V |
probably damaging |
Het |
Pramel11 |
A |
G |
4: 143,622,423 (GRCm39) |
S311P |
probably damaging |
Het |
Ralb |
G |
A |
1: 119,403,686 (GRCm39) |
A147V |
possibly damaging |
Het |
Rgs11 |
A |
G |
17: 26,424,155 (GRCm39) |
K196E |
probably benign |
Het |
Rnft1 |
A |
T |
11: 86,382,616 (GRCm39) |
T280S |
probably benign |
Het |
Slco4c1 |
G |
T |
1: 96,795,559 (GRCm39) |
H166Q |
probably damaging |
Het |
Sycp3 |
T |
C |
10: 88,308,797 (GRCm39) |
S248P |
probably damaging |
Het |
Tab2 |
A |
G |
10: 7,794,876 (GRCm39) |
|
probably null |
Het |
Tgm6 |
T |
C |
2: 129,980,875 (GRCm39) |
M224T |
probably damaging |
Het |
Topbp1 |
A |
T |
9: 103,190,003 (GRCm39) |
E193V |
possibly damaging |
Het |
Trim36 |
T |
C |
18: 46,302,359 (GRCm39) |
Y551C |
probably damaging |
Het |
Ttc17 |
T |
C |
2: 94,192,866 (GRCm39) |
Y628C |
probably damaging |
Het |
Vmn1r180 |
A |
C |
7: 23,652,635 (GRCm39) |
D266A |
possibly damaging |
Het |
Vmn2r104 |
T |
A |
17: 20,260,981 (GRCm39) |
K481* |
probably null |
Het |
Zc3hav1 |
A |
G |
6: 38,284,172 (GRCm39) |
V981A |
probably 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 |
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 |
|
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'- TCCAATGTCTGGTGCAGAAG -3'
(R):5'- CAGTAAGGTGACCACGTAAATGAC -3'
Sequencing Primer
(F):5'- TTAGCTGAGGACATGCTACCCAG -3'
(R):5'- GGTGACCACGTAAATGACATTTG -3'
|
Posted On |
2016-11-09 |