Incidental Mutation 'R6717:Ccdc178'
| ID |
529455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc178
|
| Ensembl Gene |
ENSMUSG00000024306 |
| Gene Name |
coiled coil domain containing 178 |
| Synonyms |
4921528I01Rik |
| MMRRC Submission |
044835-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6717 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
21943954-22304453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22153946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 621
(V621E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025160]
[ENSMUST00000115837]
|
| AlphaFold |
Q8CDV0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025160
AA Change: V621E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: V621E
| 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 damaging
Transcript: ENSMUST00000115837
AA Change: V621E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: V621E
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
C |
T |
5: 4,114,086 (GRCm39) |
L3122F |
probably damaging |
Het |
| Atp6v1b1 |
A |
T |
6: 83,730,632 (GRCm39) |
|
probably null |
Het |
| Cfap126 |
T |
C |
1: 170,941,671 (GRCm39) |
|
probably null |
Het |
| Cog2 |
T |
C |
8: 125,252,488 (GRCm39) |
I64T |
probably damaging |
Het |
| Dhx9 |
A |
C |
1: 153,349,210 (GRCm39) |
|
probably null |
Het |
| Efcab7 |
A |
G |
4: 99,761,931 (GRCm39) |
D407G |
possibly damaging |
Het |
| Eif2b5 |
G |
T |
16: 20,324,033 (GRCm39) |
G459C |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,793,765 (GRCm39) |
E1168G |
probably damaging |
Het |
| Flnc |
AGCTGTCAAGTATGCTG |
AGCTG |
6: 29,450,901 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
G |
5: 150,419,777 (GRCm39) |
T980A |
probably benign |
Het |
| Gabbr2 |
A |
G |
4: 46,787,574 (GRCm39) |
V363A |
possibly damaging |
Het |
| Ggt6 |
T |
A |
11: 72,328,346 (GRCm39) |
L244* |
probably null |
Het |
| Gprc6a |
T |
A |
10: 51,491,233 (GRCm39) |
I768F |
probably damaging |
Het |
| Grk1 |
G |
A |
8: 13,466,237 (GRCm39) |
M560I |
probably benign |
Het |
| Hapln4 |
G |
A |
8: 70,537,740 (GRCm39) |
E145K |
probably damaging |
Het |
| Hoxd9 |
C |
T |
2: 74,528,733 (GRCm39) |
P112S |
probably benign |
Het |
| Ly6g6f |
T |
A |
17: 35,304,550 (GRCm39) |
M1L |
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,644,383 (GRCm39) |
T849A |
probably benign |
Het |
| Mob4 |
A |
T |
1: 55,175,872 (GRCm39) |
M39L |
possibly damaging |
Het |
| Mrgpre |
A |
T |
7: 143,335,260 (GRCm39) |
L81Q |
probably damaging |
Het |
| Mst1 |
T |
C |
9: 107,957,774 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
T |
7: 141,411,559 (GRCm39) |
R1502* |
probably null |
Het |
| Or4b13 |
T |
A |
2: 90,082,868 (GRCm39) |
I155L |
probably benign |
Het |
| Or5ap2 |
T |
A |
2: 85,680,567 (GRCm39) |
I257N |
probably damaging |
Het |
| Or9e1 |
T |
C |
11: 58,732,113 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pdc |
A |
G |
1: 150,208,769 (GRCm39) |
D84G |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,114,523 (GRCm39) |
N443D |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,341,401 (GRCm39) |
W85R |
unknown |
Het |
| Pramel31 |
G |
T |
4: 144,089,227 (GRCm39) |
V182L |
probably benign |
Het |
| Rfc1 |
G |
A |
5: 65,459,347 (GRCm39) |
Q190* |
probably null |
Het |
| Rfc1 |
A |
G |
5: 65,470,304 (GRCm39) |
S68P |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,452,317 (GRCm39) |
V432A |
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,273,018 (GRCm39) |
S204P |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,162,631 (GRCm39) |
E205G |
probably damaging |
Het |
| Slc2a8 |
A |
C |
2: 32,866,189 (GRCm39) |
M277R |
probably damaging |
Het |
| Slc4a1 |
T |
C |
11: 102,245,249 (GRCm39) |
Y566C |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,331,262 (GRCm39) |
N185S |
probably benign |
Het |
| Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,157,482 (GRCm39) |
|
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,926,823 (GRCm39) |
T279S |
possibly damaging |
Het |
| Taok3 |
A |
G |
5: 117,379,015 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,599,561 (GRCm39) |
T516A |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,641,093 (GRCm39) |
L1088Q |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,485 (GRCm39) |
M879L |
probably benign |
Het |
| Tnk2 |
A |
G |
16: 32,489,687 (GRCm39) |
E322G |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,433,302 (GRCm39) |
V2081A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,624,753 (GRCm39) |
|
probably null |
Het |
| Zfp105 |
T |
C |
9: 122,759,373 (GRCm39) |
V348A |
possibly damaging |
Het |
| Zswim2 |
T |
C |
2: 83,745,753 (GRCm39) |
R562G |
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 |
|
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 |
|
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'- GTGTATGCAGAGCCCATTTAGAAAG -3'
(R):5'- ACGTCCCATGTCTTAGATGATTC -3'
Sequencing Primer
(F):5'- TGCAGAGCCCATTTAGAAAGAACAG -3'
(R):5'- CCTAGAACTCATAGGCTGTGATC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation