Incidental Mutation 'IGL00425:Ccdc159'
| ID |
6188 |
| 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 # |
IGL00425
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21838767-21847168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21840765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 111
(S111P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006403]
[ENSMUST00000046831]
[ENSMUST00000170304]
[ENSMUST00000213698]
[ENSMUST00000214569]
[ENSMUST00000214734]
[ENSMUST00000216710]
|
| AlphaFold |
Q8C963 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006403
AA Change: S103P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000006403
Gene: ENSMUSG00000006241
AA Change: S103P
| 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 |
possibly damaging
Transcript: ENSMUST00000170304
AA Change: S111P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126474
Gene: ENSMUSG00000006241
AA Change: S111P
| 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 |
possibly damaging
Transcript: ENSMUST00000214734
AA Change: S111P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215650
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217589
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216710
|
| 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 |
|---|
| Adam2 |
C |
T |
14: 66,311,498 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
A |
T |
4: 129,912,865 (GRCm39) |
H1373L |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,977,547 (GRCm39) |
S599P |
probably damaging |
Het |
| Atp9b |
G |
A |
18: 80,961,103 (GRCm39) |
|
probably benign |
Het |
| Baiap2 |
A |
G |
11: 119,872,836 (GRCm39) |
T125A |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,404,550 (GRCm39) |
S1114P |
probably damaging |
Het |
| Cd177 |
T |
A |
7: 24,459,176 (GRCm39) |
T78S |
possibly damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,321,709 (GRCm39) |
|
probably null |
Het |
| Cdkl3 |
C |
A |
11: 51,920,683 (GRCm39) |
T462K |
probably benign |
Het |
| Chid1 |
A |
C |
7: 141,102,609 (GRCm39) |
L208R |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,542,342 (GRCm39) |
S487P |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,709,748 (GRCm39) |
L1816Q |
unknown |
Het |
| Dido1 |
A |
G |
2: 180,325,782 (GRCm39) |
S469P |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,734,826 (GRCm39) |
N935D |
probably benign |
Het |
| Fbxw2 |
A |
G |
2: 34,702,961 (GRCm39) |
I184T |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,253,620 (GRCm39) |
I32V |
possibly damaging |
Het |
| Hycc2 |
A |
T |
1: 58,579,412 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
G |
A |
12: 119,153,561 (GRCm39) |
T318I |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,781,236 (GRCm39) |
S703G |
probably benign |
Het |
| Kif26b |
A |
T |
1: 178,743,866 (GRCm39) |
S1321C |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,529,717 (GRCm39) |
N415S |
possibly damaging |
Het |
| Megf10 |
C |
A |
18: 57,373,700 (GRCm39) |
A166D |
probably damaging |
Het |
| Mrm3 |
T |
G |
11: 76,135,319 (GRCm39) |
S177A |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,539,368 (GRCm39) |
F2011S |
probably benign |
Het |
| Nipal1 |
C |
T |
5: 72,816,067 (GRCm39) |
S30L |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,068,447 (GRCm39) |
Y895H |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,500,559 (GRCm39) |
N495D |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,548,182 (GRCm39) |
|
probably null |
Het |
| Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,835,663 (GRCm39) |
D40G |
probably benign |
Het |
| Serhl |
A |
T |
15: 82,989,838 (GRCm39) |
D192V |
possibly damaging |
Het |
| Slc12a5 |
C |
T |
2: 164,825,201 (GRCm39) |
A461V |
probably damaging |
Het |
| Tomm34 |
A |
T |
2: 163,900,582 (GRCm39) |
|
probably benign |
Het |
| Zfp54 |
A |
G |
17: 21,650,559 (GRCm39) |
N45D |
probably damaging |
Het |
|
| Other mutations in Ccdc159 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02322:Ccdc159
|
APN |
9 |
21,840,669 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03156:Ccdc159
|
APN |
9 |
21,840,771 (GRCm39) |
missense |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation