Incidental Mutation 'IGL02457:Ccdc158'
| ID |
294428 |
| 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 # |
IGL02457
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 92797907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 411
(I411S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060930]
[ENSMUST00000150359]
[ENSMUST00000151180]
|
| AlphaFold |
Q8CDI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060930
AA Change: I411S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063050
Gene: ENSMUSG00000050050
AA Change: I411S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150359
|
| SMART Domains |
Protein: ENSMUSP00000123259
Gene: ENSMUSG00000050050
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC158
|
1 |
346 |
1.5e-220 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151180
|
| SMART Domains |
Protein: ENSMUSP00000117894
Gene: ENSMUSG00000050050
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
A |
G |
2: 181,136,127 (GRCm39) |
D343G |
probably benign |
Het |
| Acot10 |
T |
C |
15: 20,666,229 (GRCm39) |
S171G |
possibly damaging |
Het |
| Actr3b |
T |
C |
5: 26,054,160 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
T |
C |
7: 66,677,562 (GRCm39) |
M492T |
probably damaging |
Het |
| Akap4 |
A |
C |
X: 6,943,707 (GRCm39) |
N670T |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,894,299 (GRCm39) |
S55P |
possibly damaging |
Het |
| Bend3 |
A |
T |
10: 43,385,946 (GRCm39) |
E113V |
probably damaging |
Het |
| Cfap97 |
G |
T |
8: 46,623,315 (GRCm39) |
C235F |
possibly damaging |
Het |
| Chil4 |
T |
C |
3: 106,121,715 (GRCm39) |
N45D |
probably benign |
Het |
| Cripto |
C |
T |
9: 110,771,691 (GRCm39) |
C32Y |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,079,690 (GRCm39) |
V1131A |
probably damaging |
Het |
| Defb38 |
T |
C |
8: 19,076,552 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,866,860 (GRCm39) |
W2260R |
probably damaging |
Het |
| Ecsit |
A |
G |
9: 21,989,500 (GRCm39) |
S14P |
probably damaging |
Het |
| Eif3l |
T |
C |
15: 78,962,296 (GRCm39) |
F106L |
probably benign |
Het |
| Erich5 |
G |
T |
15: 34,470,999 (GRCm39) |
G76V |
probably damaging |
Het |
| Evpl |
A |
G |
11: 116,120,939 (GRCm39) |
L432P |
possibly damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,765,808 (GRCm39) |
F698L |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,428,470 (GRCm39) |
S2866T |
probably damaging |
Het |
| Fuca1 |
G |
A |
4: 135,662,073 (GRCm39) |
V334I |
probably benign |
Het |
| Hprt1 |
T |
A |
X: 52,091,010 (GRCm39) |
H60Q |
probably benign |
Het |
| Kirrel2 |
T |
C |
7: 30,152,165 (GRCm39) |
N481S |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lilrb4b |
T |
A |
10: 51,357,334 (GRCm39) |
Y57N |
probably benign |
Het |
| Lix1l |
A |
G |
3: 96,521,792 (GRCm39) |
Y126C |
probably damaging |
Het |
| Lox |
T |
C |
18: 52,654,388 (GRCm39) |
D347G |
probably damaging |
Het |
| Mak16 |
C |
T |
8: 31,654,753 (GRCm39) |
R147Q |
possibly damaging |
Het |
| Ndst2 |
G |
A |
14: 20,779,622 (GRCm39) |
A206V |
possibly damaging |
Het |
| Or1ak2 |
A |
T |
2: 36,827,760 (GRCm39) |
I210F |
probably damaging |
Het |
| Or2q1 |
T |
A |
6: 42,795,176 (GRCm39) |
I257N |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,627,771 (GRCm39) |
M225V |
probably benign |
Het |
| Pofut1 |
C |
T |
2: 153,090,516 (GRCm39) |
Q137* |
probably null |
Het |
| Polr2a |
T |
C |
11: 69,634,076 (GRCm39) |
|
probably benign |
Het |
| Prdm5 |
T |
A |
6: 65,858,100 (GRCm39) |
L388Q |
probably damaging |
Het |
| Rad51c |
A |
G |
11: 87,271,681 (GRCm39) |
S344P |
possibly damaging |
Het |
| Scart1 |
G |
A |
7: 139,800,308 (GRCm39) |
G30S |
probably benign |
Het |
| Sdk1 |
C |
T |
5: 141,938,771 (GRCm39) |
P398L |
probably damaging |
Het |
| Sec63 |
G |
A |
10: 42,677,729 (GRCm39) |
|
probably benign |
Het |
| Sgo1 |
A |
T |
17: 53,983,989 (GRCm39) |
L463Q |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,198,002 (GRCm39) |
L291P |
probably damaging |
Het |
| Smarcb1 |
T |
C |
10: 75,757,205 (GRCm39) |
T9A |
probably benign |
Het |
| Sp3 |
A |
G |
2: 72,801,813 (GRCm39) |
W67R |
probably damaging |
Het |
| Ssxb9 |
A |
C |
X: 21,041,234 (GRCm39) |
S23A |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,292,167 (GRCm39) |
L1367S |
probably damaging |
Het |
| Tbc1d23 |
T |
A |
16: 56,990,754 (GRCm39) |
I690F |
probably damaging |
Het |
| Tmed5 |
A |
T |
5: 108,272,416 (GRCm39) |
S227R |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,613,803 (GRCm39) |
S814T |
probably benign |
Het |
| Trbv2 |
C |
T |
6: 41,024,905 (GRCm39) |
T107I |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,803,155 (GRCm39) |
V866A |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,804,762 (GRCm39) |
K905* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,539,654 (GRCm39) |
V34444A |
probably benign |
Het |
| Vmn1r86 |
C |
T |
7: 12,836,707 (GRCm39) |
M56I |
probably benign |
Het |
| Vmn2r17 |
A |
C |
5: 109,601,012 (GRCm39) |
D770A |
probably damaging |
Het |
| Wnk4 |
T |
C |
11: 101,160,389 (GRCm39) |
|
probably benign |
Het |
| Xaf1 |
T |
C |
11: 72,194,257 (GRCm39) |
M46T |
possibly damaging |
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 |
|
IGL01722:Ccdc158
|
APN |
5 |
92,810,598 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02250:Ccdc158
|
APN |
5 |
92,756,337 (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 |
2015-04-16 |
Incidental Mutation