Incidental Mutation 'R3150:Ccdc178'
| ID |
271653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc178
|
| Ensembl Gene |
ENSMUSG00000024306 |
| Gene Name |
coiled coil domain containing 178 |
| Synonyms |
4921528I01Rik |
| MMRRC Submission |
040602-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3150 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
21943954-22304453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 22200709 bp (GRCm39)
|
| 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: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
A |
T |
4: 63,313,590 (GRCm39) |
S178T |
possibly damaging |
Het |
| Cabin1 |
A |
G |
10: 75,492,745 (GRCm39) |
L1850P |
probably damaging |
Het |
| Ces1g |
C |
T |
8: 94,052,444 (GRCm39) |
V282I |
probably benign |
Het |
| Col4a3 |
T |
G |
1: 82,634,858 (GRCm39) |
|
probably null |
Het |
| Crat |
C |
T |
2: 30,303,871 (GRCm39) |
|
probably null |
Het |
| Csf2ra |
C |
A |
19: 61,215,758 (GRCm39) |
A16S |
possibly damaging |
Het |
| Cspg4b |
A |
T |
13: 113,488,294 (GRCm39) |
Q105H |
probably damaging |
Het |
| Cyp4f18 |
T |
C |
8: 72,747,044 (GRCm39) |
D317G |
possibly damaging |
Het |
| Ddb1 |
T |
A |
19: 10,590,346 (GRCm39) |
M291K |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,853,620 (GRCm39) |
T1528N |
probably benign |
Het |
| Gfod2 |
C |
T |
8: 106,443,853 (GRCm39) |
G230D |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,868,410 (GRCm39) |
S257P |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Hnrnph1 |
T |
A |
11: 50,276,619 (GRCm39) |
V439E |
probably benign |
Het |
| Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,202,336 (GRCm39) |
T189M |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,029,653 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nmral1 |
G |
A |
16: 4,534,333 (GRCm39) |
T36I |
probably damaging |
Het |
| Or4c1 |
C |
T |
2: 89,133,562 (GRCm39) |
V125M |
possibly damaging |
Het |
| Or5b119 |
A |
G |
19: 13,456,824 (GRCm39) |
V246A |
probably damaging |
Het |
| Or7e169 |
A |
G |
9: 19,757,510 (GRCm39) |
I135T |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,798,765 (GRCm39) |
R2691L |
probably benign |
Het |
| Ppp2r2a |
G |
A |
14: 67,261,214 (GRCm39) |
R169W |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,334,488 (GRCm39) |
|
probably null |
Het |
| Robo1 |
C |
T |
16: 72,767,157 (GRCm39) |
P443L |
possibly damaging |
Het |
| Rtn4 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
11: 29,643,308 (GRCm39) |
|
probably benign |
Het |
| Shprh |
A |
G |
10: 11,045,774 (GRCm39) |
H865R |
probably damaging |
Het |
| Spats1 |
A |
T |
17: 45,775,480 (GRCm39) |
S15T |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,220,327 (GRCm39) |
T216A |
probably benign |
Het |
| Sry |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
Y: 2,662,944 (GRCm39) |
|
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,333,022 (GRCm39) |
A902V |
probably damaging |
Het |
| Usp22 |
T |
C |
11: 61,051,407 (GRCm39) |
Q312R |
probably damaging |
Het |
| Vmn2r32 |
T |
C |
7: 7,475,554 (GRCm39) |
Y443C |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,813,360 (GRCm39) |
D3274E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,971,095 (GRCm39) |
N167K |
possibly damaging |
Het |
| Xpo5 |
A |
G |
17: 46,553,173 (GRCm39) |
|
probably null |
Het |
| Zswim7 |
A |
T |
11: 62,164,611 (GRCm39) |
I43N |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
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 |
|
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 |
|
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'- GGCGTCTTTTGAAACATTAGAAAGC -3'
(R):5'- AGTCAGTGCTCACTATGGAAAC -3'
Sequencing Primer
(F):5'- ACATTAGAAAGCTCAATATCCCATG -3'
(R):5'- GTGCTCACTATGGAAACTACATAAAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation