Incidental Mutation 'IGL01722:Ccdc158'
| ID |
105142 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc158
|
| Ensembl Gene |
ENSMUSG00000050050 |
| Gene Name |
coiled-coil domain containing 158 |
| Synonyms |
4932413O14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
IGL01722
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92810598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 97
(N97D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060930]
[ENSMUST00000150359]
[ENSMUST00000151180]
|
| AlphaFold |
Q8CDI6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060930
AA Change: N97D
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000063050
Gene: ENSMUSG00000050050
AA Change: N97D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150359
AA Change: N97D
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123259
Gene: ENSMUSG00000050050
AA Change: N97D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC158
|
1 |
346 |
1.5e-220 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151180
AA Change: N97D
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117894
Gene: ENSMUSG00000050050
AA Change: N97D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
71 |
105 |
N/A |
INTRINSIC |
|
coiled coil region
|
127 |
166 |
N/A |
INTRINSIC |
|
coiled coil region
|
244 |
343 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
T |
A |
2: 58,173,561 (GRCm39) |
|
probably benign |
Het |
| Alb |
G |
A |
5: 90,618,698 (GRCm39) |
|
probably null |
Het |
| Ankrd9 |
A |
G |
12: 110,943,797 (GRCm39) |
V46A |
probably damaging |
Het |
| Apol11a |
A |
T |
15: 77,401,307 (GRCm39) |
M265L |
probably benign |
Het |
| Cobl |
T |
G |
11: 12,203,987 (GRCm39) |
H823P |
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,279,908 (GRCm39) |
H90Q |
probably benign |
Het |
| Dpagt1 |
T |
C |
9: 44,238,899 (GRCm39) |
F73S |
possibly damaging |
Het |
| Dph3 |
C |
T |
14: 31,807,417 (GRCm39) |
E20K |
possibly damaging |
Het |
| Fbxl13 |
G |
T |
5: 21,695,412 (GRCm39) |
T660K |
possibly damaging |
Het |
| Gask1a |
G |
A |
9: 121,794,149 (GRCm39) |
S101N |
possibly damaging |
Het |
| Glt6d1 |
T |
C |
2: 25,684,431 (GRCm39) |
T192A |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,560,358 (GRCm39) |
V649I |
probably benign |
Het |
| Mta3 |
T |
C |
17: 84,063,072 (GRCm39) |
Y4H |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,292,956 (GRCm39) |
L369P |
probably damaging |
Het |
| Or2y1 |
G |
T |
11: 49,385,793 (GRCm39) |
L144F |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,351 (GRCm39) |
C26R |
probably benign |
Het |
| Paxx |
T |
C |
2: 25,350,277 (GRCm39) |
D110G |
probably damaging |
Het |
| Pcyox1 |
T |
G |
6: 86,365,735 (GRCm39) |
D493A |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,535,976 (GRCm39) |
E560G |
probably benign |
Het |
| Rnf6 |
A |
G |
5: 146,147,036 (GRCm39) |
F661L |
probably benign |
Het |
| Sema4a |
T |
C |
3: 88,345,491 (GRCm39) |
K531E |
probably benign |
Het |
| Svs5 |
T |
C |
2: 164,079,446 (GRCm39) |
K154E |
possibly damaging |
Het |
| Tbx4 |
A |
T |
11: 85,802,769 (GRCm39) |
Q242L |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,886,488 (GRCm39) |
I570F |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,059,322 (GRCm39) |
M908K |
possibly damaging |
Het |
| Trmo |
A |
G |
4: 46,386,092 (GRCm39) |
|
probably null |
Het |
| Usp8 |
T |
A |
2: 126,600,072 (GRCm39) |
L997Q |
probably damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,890 (GRCm39) |
R176G |
probably benign |
Het |
| Vps52 |
T |
A |
17: 34,180,589 (GRCm39) |
Y308* |
probably null |
Het |
|
| Other mutations in Ccdc158 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Ccdc158
|
APN |
5 |
92,805,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00926:Ccdc158
|
APN |
5 |
92,798,626 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01533:Ccdc158
|
APN |
5 |
92,757,815 (GRCm39) |
splice site |
probably null |
|
|
IGL01551:Ccdc158
|
APN |
5 |
92,814,620 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01591:Ccdc158
|
APN |
5 |
92,809,900 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02250:Ccdc158
|
APN |
5 |
92,756,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02457:Ccdc158
|
APN |
5 |
92,797,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02570:Ccdc158
|
APN |
5 |
92,796,885 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02951:Ccdc158
|
APN |
5 |
92,797,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03275:Ccdc158
|
APN |
5 |
92,777,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0238:Ccdc158
|
UTSW |
5 |
92,809,977 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0238:Ccdc158
|
UTSW |
5 |
92,809,977 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0747:Ccdc158
|
UTSW |
5 |
92,781,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1219:Ccdc158
|
UTSW |
5 |
92,802,040 (GRCm39) |
splice site |
probably benign |
|
|
R1480:Ccdc158
|
UTSW |
5 |
92,796,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Ccdc158
|
UTSW |
5 |
92,798,647 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2172:Ccdc158
|
UTSW |
5 |
92,780,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2245:Ccdc158
|
UTSW |
5 |
92,757,811 (GRCm39) |
unclassified |
probably benign |
|
|
R3004:Ccdc158
|
UTSW |
5 |
92,796,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3147:Ccdc158
|
UTSW |
5 |
92,805,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3693:Ccdc158
|
UTSW |
5 |
92,757,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3694:Ccdc158
|
UTSW |
5 |
92,757,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3735:Ccdc158
|
UTSW |
5 |
92,780,283 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3736:Ccdc158
|
UTSW |
5 |
92,780,283 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3912:Ccdc158
|
UTSW |
5 |
92,796,794 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4026:Ccdc158
|
UTSW |
5 |
92,791,666 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4080:Ccdc158
|
UTSW |
5 |
92,771,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4463:Ccdc158
|
UTSW |
5 |
92,782,159 (GRCm39) |
missense |
probably null |
0.99 |
|
R4483:Ccdc158
|
UTSW |
5 |
92,781,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4859:Ccdc158
|
UTSW |
5 |
92,781,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5016:Ccdc158
|
UTSW |
5 |
92,805,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5050:Ccdc158
|
UTSW |
5 |
92,814,738 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5372:Ccdc158
|
UTSW |
5 |
92,780,419 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5427:Ccdc158
|
UTSW |
5 |
92,796,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5847:Ccdc158
|
UTSW |
5 |
92,775,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5966:Ccdc158
|
UTSW |
5 |
92,797,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6106:Ccdc158
|
UTSW |
5 |
92,775,325 (GRCm39) |
missense |
probably benign |
|
|
R6185:Ccdc158
|
UTSW |
5 |
92,814,713 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6562:Ccdc158
|
UTSW |
5 |
92,810,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6743:Ccdc158
|
UTSW |
5 |
92,810,005 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6815:Ccdc158
|
UTSW |
5 |
92,760,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6914:Ccdc158
|
UTSW |
5 |
92,809,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6975:Ccdc158
|
UTSW |
5 |
92,814,579 (GRCm39) |
nonsense |
probably null |
|
|
R7252:Ccdc158
|
UTSW |
5 |
92,798,647 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7477:Ccdc158
|
UTSW |
5 |
92,798,555 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7782:Ccdc158
|
UTSW |
5 |
92,793,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8014:Ccdc158
|
UTSW |
5 |
92,796,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8018:Ccdc158
|
UTSW |
5 |
92,771,260 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8028:Ccdc158
|
UTSW |
5 |
92,782,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Ccdc158
|
UTSW |
5 |
92,809,871 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ccdc158
|
UTSW |
5 |
92,756,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation