Incidental Mutation 'IGL03275:Ccdc158'
ID |
415387 |
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: 0.187)
|
Stock # |
IGL03275
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 92777491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 941
(I941F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063050
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060930]
|
AlphaFold |
Q8CDI6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060930
AA Change: I941F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000063050 Gene: ENSMUSG00000050050 AA Change: I941F
Domain | Start | End | E-Value | Type |
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212060
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
T |
A |
8: 73,198,968 (GRCm39) |
L125H |
probably damaging |
Het |
2210408I21Rik |
A |
T |
13: 77,446,674 (GRCm39) |
T816S |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,415,033 (GRCm39) |
I1438N |
probably damaging |
Het |
Bicdl1 |
A |
G |
5: 115,869,219 (GRCm39) |
Y134H |
probably damaging |
Het |
Btnl1 |
A |
T |
17: 34,604,486 (GRCm39) |
K422N |
probably damaging |
Het |
Crnn |
A |
G |
3: 93,056,725 (GRCm39) |
K504E |
possibly damaging |
Het |
Csmd1 |
T |
A |
8: 16,207,106 (GRCm39) |
I1308L |
probably benign |
Het |
Cwf19l1 |
T |
C |
19: 44,111,696 (GRCm39) |
M246V |
probably benign |
Het |
Desi1 |
T |
A |
15: 81,887,963 (GRCm39) |
I36F |
probably damaging |
Het |
Foxf2 |
A |
G |
13: 31,810,514 (GRCm39) |
N151S |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,305,376 (GRCm39) |
V35A |
possibly damaging |
Het |
Ftdc1 |
T |
C |
16: 58,436,119 (GRCm39) |
Y68C |
probably damaging |
Het |
Gabrg3 |
T |
C |
7: 56,423,095 (GRCm39) |
Y201C |
probably damaging |
Het |
Grb10 |
T |
A |
11: 11,883,591 (GRCm39) |
T500S |
possibly damaging |
Het |
Hsdl2 |
A |
G |
4: 59,617,747 (GRCm39) |
*371W |
probably null |
Het |
Irf7 |
C |
A |
7: 140,845,059 (GRCm39) |
R49L |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,060,375 (GRCm39) |
|
probably benign |
Het |
Jam3 |
T |
C |
9: 27,012,545 (GRCm39) |
T201A |
probably damaging |
Het |
Msantd5f6 |
T |
A |
4: 73,321,653 (GRCm39) |
R127S |
possibly damaging |
Het |
Mst1 |
T |
C |
9: 107,961,587 (GRCm39) |
S606P |
possibly damaging |
Het |
Or5p59 |
T |
A |
7: 107,702,815 (GRCm39) |
C100S |
probably damaging |
Het |
Otog |
A |
G |
7: 45,955,654 (GRCm39) |
E2800G |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,427,004 (GRCm39) |
P292S |
probably damaging |
Het |
Rab10 |
A |
T |
12: 3,306,959 (GRCm39) |
Y79N |
probably damaging |
Het |
Rc3h1 |
T |
C |
1: 160,787,125 (GRCm39) |
|
probably null |
Het |
Slc2a3 |
C |
T |
6: 122,713,701 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
T |
C |
19: 4,782,689 (GRCm39) |
Y542H |
possibly damaging |
Het |
Tas2r110 |
T |
C |
6: 132,845,061 (GRCm39) |
F31L |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,666,143 (GRCm39) |
C222S |
probably benign |
Het |
Ttn |
A |
G |
2: 76,547,688 (GRCm39) |
S32161P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,775,451 (GRCm39) |
S1864P |
probably damaging |
Het |
Vmn1r228 |
A |
G |
17: 20,997,104 (GRCm39) |
I138T |
probably damaging |
Het |
Vmn2r10 |
T |
A |
5: 109,151,243 (GRCm39) |
T124S |
probably benign |
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 |
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 |
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 |
2016-08-02 |