Incidental Mutation 'IGL03156:Ccdc159'
| ID |
411278 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc159
|
| Ensembl Gene |
ENSMUSG00000006241 |
| Gene Name |
coiled-coil domain containing 159 |
| Synonyms |
2510048L02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03156
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21838767-21847168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 21840771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 113
(V113L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006403]
[ENSMUST00000046831]
[ENSMUST00000170304]
[ENSMUST00000213698]
[ENSMUST00000214569]
[ENSMUST00000214734]
[ENSMUST00000216710]
|
| AlphaFold |
Q8C963 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006403
AA Change: V105L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006403
Gene: ENSMUSG00000006241
AA Change: V105L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
52 |
N/A |
INTRINSIC |
|
coiled coil region
|
152 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
227 |
N/A |
INTRINSIC |
|
coiled coil region
|
261 |
288 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046831
|
| SMART Domains |
Protein: ENSMUSP00000048832
Gene: ENSMUSG00000040883
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4149
|
17 |
119 |
1.2e-27 |
PFAM |
|
transmembrane domain
|
164 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170304
AA Change: V113L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126474
Gene: ENSMUSG00000006241
AA Change: V113L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
|
coiled coil region
|
160 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
269 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213698
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214569
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214734
AA Change: V113L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215650
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217263
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,023,074 (GRCm39) |
I70T |
possibly damaging |
Het |
| Acot11 |
A |
G |
4: 106,611,333 (GRCm39) |
Y365H |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,544 (GRCm39) |
V947A |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,733,788 (GRCm39) |
D3035G |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,719,672 (GRCm39) |
I433F |
probably damaging |
Het |
| Cntn5 |
T |
C |
9: 9,673,882 (GRCm39) |
Y740C |
probably damaging |
Het |
| Dennd5a |
C |
A |
7: 109,518,462 (GRCm39) |
|
probably benign |
Het |
| Des |
G |
A |
1: 75,339,640 (GRCm39) |
E333K |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,644,983 (GRCm39) |
R1018G |
probably damaging |
Het |
| Eif2b2 |
G |
T |
12: 85,266,495 (GRCm39) |
A54S |
probably damaging |
Het |
| Gm7276 |
C |
T |
18: 77,273,299 (GRCm39) |
|
probably benign |
Het |
| Hsbp1l1 |
A |
G |
18: 80,278,734 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
G |
A |
13: 49,856,655 (GRCm39) |
G303S |
possibly damaging |
Het |
| Il18r1 |
A |
G |
1: 40,537,528 (GRCm39) |
E431G |
possibly damaging |
Het |
| Lrrc14b |
A |
G |
13: 74,512,023 (GRCm39) |
V19A |
probably benign |
Het |
| Map1lc3a |
T |
A |
2: 155,118,929 (GRCm39) |
I31N |
probably damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,083,114 (GRCm39) |
I102K |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,945,722 (GRCm39) |
Y4163C |
probably damaging |
Het |
| Or5p6 |
T |
A |
7: 107,631,558 (GRCm39) |
|
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,070 (GRCm39) |
T632A |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,030,757 (GRCm39) |
D12G |
possibly damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,174,595 (GRCm39) |
L71P |
possibly damaging |
Het |
| Ptgs2 |
T |
G |
1: 149,981,228 (GRCm39) |
F504V |
probably damaging |
Het |
| Rimbp2 |
T |
G |
5: 128,848,821 (GRCm39) |
R908S |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,743,096 (GRCm39) |
N268S |
probably damaging |
Het |
| Sap30l |
T |
C |
11: 57,696,994 (GRCm39) |
|
probably null |
Het |
| Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,158 (GRCm39) |
Y158C |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,148,286 (GRCm39) |
D148E |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,379,451 (GRCm39) |
D232G |
probably benign |
Het |
| Zan |
T |
A |
5: 137,462,201 (GRCm39) |
T993S |
unknown |
Het |
| Zfp236 |
G |
A |
18: 82,698,827 (GRCm39) |
L85F |
probably damaging |
Het |
| Zfp352 |
G |
A |
4: 90,112,324 (GRCm39) |
D155N |
possibly damaging |
Het |
| Zfp867 |
T |
C |
11: 59,355,834 (GRCm39) |
|
probably benign |
Het |
| Zmiz2 |
T |
C |
11: 6,349,536 (GRCm39) |
F399L |
probably damaging |
Het |
|
| Other mutations in Ccdc159 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Ccdc159
|
APN |
9 |
21,840,765 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02322:Ccdc159
|
APN |
9 |
21,840,669 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03382:Ccdc159
|
APN |
9 |
21,842,992 (GRCm39) |
splice site |
probably null |
|
|
R1622:Ccdc159
|
UTSW |
9 |
21,840,666 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2076:Ccdc159
|
UTSW |
9 |
21,840,802 (GRCm39) |
splice site |
probably null |
|
|
R3905:Ccdc159
|
UTSW |
9 |
21,845,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4083:Ccdc159
|
UTSW |
9 |
21,840,699 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4625:Ccdc159
|
UTSW |
9 |
21,840,762 (GRCm39) |
missense |
probably benign |
|
|
R4700:Ccdc159
|
UTSW |
9 |
21,839,027 (GRCm39) |
splice site |
probably null |
|
|
R5004:Ccdc159
|
UTSW |
9 |
21,844,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5743:Ccdc159
|
UTSW |
9 |
21,840,686 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6245:Ccdc159
|
UTSW |
9 |
21,846,864 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7263:Ccdc159
|
UTSW |
9 |
21,843,007 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8171:Ccdc159
|
UTSW |
9 |
21,845,007 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8477:Ccdc159
|
UTSW |
9 |
21,844,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Ccdc159
|
UTSW |
9 |
21,845,051 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9649:Ccdc159
|
UTSW |
9 |
21,840,672 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Posted On |
2016-08-02 |
Incidental Mutation