Incidental Mutation 'IGL01551:Ccdc158'
ID |
93262 |
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 # |
IGL01551
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92814620 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 69
(Y69H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060930]
[ENSMUST00000150359]
[ENSMUST00000151180]
|
AlphaFold |
Q8CDI6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060930
AA Change: Y69H
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000063050 Gene: ENSMUSG00000050050 AA Change: Y69H
Domain | Start | End | E-Value | Type |
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150359
AA Change: Y69H
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000123259 Gene: ENSMUSG00000050050 AA Change: Y69H
Domain | Start | End | E-Value | Type |
Pfam:CCDC158
|
1 |
346 |
1.5e-220 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151180
AA Change: Y69H
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117894 Gene: ENSMUSG00000050050 AA Change: Y69H
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
G |
A |
10: 78,924,147 (GRCm39) |
S103L |
possibly damaging |
Het |
Acvr2a |
G |
A |
2: 48,787,071 (GRCm39) |
A389T |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,784,001 (GRCm39) |
S1037P |
probably damaging |
Het |
Adcyap1 |
A |
G |
17: 93,511,446 (GRCm39) |
Y140C |
probably damaging |
Het |
Ampd3 |
A |
G |
7: 110,404,183 (GRCm39) |
N569S |
probably damaging |
Het |
Bin1 |
G |
T |
18: 32,510,511 (GRCm39) |
V18L |
probably benign |
Het |
Ccdc70 |
A |
G |
8: 22,463,611 (GRCm39) |
R134G |
possibly damaging |
Het |
Cmtm2a |
A |
G |
8: 105,019,286 (GRCm39) |
V101A |
probably damaging |
Het |
Edar |
T |
C |
10: 58,441,860 (GRCm39) |
|
probably benign |
Het |
Gcc2 |
T |
C |
10: 58,134,691 (GRCm39) |
|
probably benign |
Het |
Gm10961 |
A |
G |
3: 107,540,281 (GRCm39) |
|
probably benign |
Het |
Hsd3b3 |
T |
C |
3: 98,649,216 (GRCm39) |
D369G |
probably benign |
Het |
Ifi202b |
T |
A |
1: 173,798,928 (GRCm39) |
K373N |
probably benign |
Het |
Khk |
C |
A |
5: 31,082,189 (GRCm39) |
H67N |
probably benign |
Het |
Kif7 |
T |
A |
7: 79,360,314 (GRCm39) |
|
probably null |
Het |
Mbd1 |
C |
T |
18: 74,402,614 (GRCm39) |
|
probably benign |
Het |
Mtor |
A |
G |
4: 148,556,494 (GRCm39) |
H968R |
probably damaging |
Het |
Nadk |
A |
G |
4: 155,673,157 (GRCm39) |
|
probably benign |
Het |
Or11g27 |
A |
G |
14: 50,771,618 (GRCm39) |
T250A |
probably benign |
Het |
Or2f1b |
A |
G |
6: 42,739,046 (GRCm39) |
D20G |
probably damaging |
Het |
Or5d40 |
A |
T |
2: 88,015,629 (GRCm39) |
H136L |
probably benign |
Het |
Otol1 |
T |
C |
3: 69,935,057 (GRCm39) |
F350L |
probably damaging |
Het |
Pramel22 |
T |
C |
4: 143,383,042 (GRCm39) |
N59S |
probably damaging |
Het |
Prkcg |
G |
A |
7: 3,352,342 (GRCm39) |
|
probably benign |
Het |
Rps6kc1 |
A |
T |
1: 190,505,837 (GRCm39) |
S1042T |
possibly damaging |
Het |
Rtn1 |
C |
T |
12: 72,263,709 (GRCm39) |
V741I |
possibly damaging |
Het |
Tor2a |
T |
A |
2: 32,650,595 (GRCm39) |
|
probably benign |
Het |
Vmn1r177 |
T |
C |
7: 23,565,688 (GRCm39) |
I63V |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,343,849 (GRCm39) |
D2030G |
probably benign |
Het |
Zfp326 |
T |
C |
5: 106,036,451 (GRCm39) |
S121P |
probably 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 |
|
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 |
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 |
2013-12-09 |