Incidental Mutation 'R3736:Ccdc158'
ID |
270114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc158
|
Ensembl Gene |
ENSMUSG00000050050 |
Gene Name |
coiled-coil domain containing 158 |
Synonyms |
4932413O14Rik |
MMRRC Submission |
040723-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R3736 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 92780283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 930
(L930R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063050
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060930]
|
AlphaFold |
Q8CDI6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060930
AA Change: L930R
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000063050 Gene: ENSMUSG00000050050 AA Change: L930R
Domain | Start | End | E-Value | Type |
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212060
|
Meta Mutation Damage Score |
0.1315 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
G |
A |
7: 29,273,996 (GRCm39) |
|
noncoding transcript |
Het |
Acot12 |
T |
A |
13: 91,932,465 (GRCm39) |
I487N |
probably benign |
Het |
Acox3 |
A |
G |
5: 35,768,497 (GRCm39) |
K686R |
probably benign |
Het |
Adgrf2 |
T |
C |
17: 43,021,903 (GRCm39) |
E307G |
probably benign |
Het |
Ang2 |
G |
A |
14: 51,433,113 (GRCm39) |
R90* |
probably null |
Het |
Ankrd11 |
A |
T |
8: 123,618,524 (GRCm39) |
V1776D |
probably damaging |
Het |
Atp12a |
G |
A |
14: 56,611,884 (GRCm39) |
V353I |
possibly damaging |
Het |
Bbs7 |
A |
G |
3: 36,661,819 (GRCm39) |
Y127H |
possibly damaging |
Het |
C8a |
T |
C |
4: 104,674,812 (GRCm39) |
E509G |
probably benign |
Het |
Ccdc162 |
T |
C |
10: 41,465,564 (GRCm39) |
|
probably null |
Het |
Cep170b |
A |
T |
12: 112,707,438 (GRCm39) |
I395F |
probably damaging |
Het |
Cimip2c |
A |
T |
5: 30,639,442 (GRCm39) |
Y123F |
probably benign |
Het |
Clcn3 |
T |
A |
8: 61,436,686 (GRCm39) |
|
probably benign |
Het |
Ctps1 |
T |
C |
4: 120,400,943 (GRCm39) |
T459A |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,332,836 (GRCm39) |
R503S |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,598,109 (GRCm39) |
V1767I |
probably benign |
Het |
Evi5 |
A |
T |
5: 107,966,849 (GRCm39) |
V224D |
probably damaging |
Het |
F8 |
G |
A |
X: 74,254,981 (GRCm39) |
P2138S |
probably damaging |
Het |
Helq |
T |
G |
5: 100,938,054 (GRCm39) |
D464A |
possibly damaging |
Het |
Irag1 |
A |
G |
7: 110,523,170 (GRCm39) |
V297A |
probably benign |
Het |
Irag2 |
G |
A |
6: 145,106,596 (GRCm39) |
|
probably benign |
Het |
Kcnk10 |
A |
G |
12: 98,456,171 (GRCm39) |
V203A |
probably benign |
Het |
Lef1 |
C |
T |
3: 130,984,715 (GRCm39) |
P160S |
possibly damaging |
Het |
Lyn |
G |
T |
4: 3,745,330 (GRCm39) |
W78C |
probably damaging |
Het |
Med12l |
T |
A |
3: 58,998,916 (GRCm39) |
H614Q |
probably damaging |
Het |
Mogs |
C |
A |
6: 83,093,757 (GRCm39) |
T242K |
possibly damaging |
Het |
Morc3 |
T |
A |
16: 93,671,700 (GRCm39) |
V910E |
probably damaging |
Het |
Ncapg |
A |
T |
5: 45,853,469 (GRCm39) |
Q906L |
probably benign |
Het |
Nup210l |
A |
G |
3: 90,027,320 (GRCm39) |
Y234C |
probably damaging |
Het |
Olr1 |
T |
A |
6: 129,476,838 (GRCm39) |
|
probably benign |
Het |
Or5p76 |
A |
G |
7: 108,122,626 (GRCm39) |
V177A |
possibly damaging |
Het |
Osmr |
A |
T |
15: 6,851,561 (GRCm39) |
Y656N |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,631,427 (GRCm39) |
F1161I |
probably damaging |
Het |
Poc5 |
A |
G |
13: 96,533,324 (GRCm39) |
S151G |
probably damaging |
Het |
Rmnd5a |
T |
C |
6: 71,373,846 (GRCm39) |
D316G |
possibly damaging |
Het |
Shroom3 |
T |
C |
5: 93,112,303 (GRCm39) |
V1888A |
possibly damaging |
Het |
Shtn1 |
A |
T |
19: 59,010,700 (GRCm39) |
S256T |
probably benign |
Het |
Sptlc2 |
G |
A |
12: 87,388,339 (GRCm39) |
A381V |
probably benign |
Het |
Suclg2 |
T |
A |
6: 95,474,677 (GRCm39) |
I363F |
probably damaging |
Het |
Tas2r134 |
C |
A |
2: 51,517,786 (GRCm39) |
N88K |
probably damaging |
Het |
Tbc1d32 |
A |
G |
10: 56,005,189 (GRCm39) |
Y815H |
probably damaging |
Het |
Tnrc6b |
G |
C |
15: 80,773,364 (GRCm39) |
|
probably benign |
Het |
Vti1a |
T |
A |
19: 55,369,364 (GRCm39) |
|
probably null |
Het |
Zfp273 |
T |
A |
13: 67,973,626 (GRCm39) |
C251* |
probably null |
Het |
Zfp683 |
C |
A |
4: 133,784,742 (GRCm39) |
Q330K |
probably benign |
Het |
Zfpm1 |
G |
A |
8: 123,050,475 (GRCm39) |
C117Y |
possibly damaging |
Het |
Zscan4d |
T |
C |
7: 10,896,803 (GRCm39) |
N189S |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTTTCTGGACTGAATGAGCAC -3'
(R):5'- CCTGTGCGCTGCAATTAAAC -3'
Sequencing Primer
(F):5'- TGGACTGAATGAGCACTCTTTC -3'
(R):5'- CGCTGCAATTAAACCATCATTTATTC -3'
|
Posted On |
2015-03-18 |