Incidental Mutation 'R2245:Ccdc158'
| ID |
240622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc158
|
| Ensembl Gene |
ENSMUSG00000050050 |
| Gene Name |
coiled-coil domain containing 158 |
| Synonyms |
4932413O14Rik |
| MMRRC Submission |
040245-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R2245 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 92757811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050952]
[ENSMUST00000060930]
[ENSMUST00000202332]
|
| AlphaFold |
Q8CDI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050952
|
| SMART Domains |
Protein: ENSMUSP00000054322
Gene: ENSMUSG00000047963
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
CBM_2
|
243 |
334 |
2.81e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060930
|
| SMART Domains |
Protein: ENSMUSP00000063050
Gene: ENSMUSG00000050050
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136004
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202332
|
| SMART Domains |
Protein: ENSMUSP00000144467
Gene: ENSMUSG00000047963
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
68 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
G |
7: 82,099,308 (GRCm39) |
Q154R |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,438,234 (GRCm39) |
L1520P |
probably benign |
Het |
| Brd1 |
A |
G |
15: 88,574,063 (GRCm39) |
|
probably null |
Het |
| Cep350 |
C |
A |
1: 155,754,766 (GRCm39) |
V1950F |
probably benign |
Het |
| Csnk1d |
A |
G |
11: 120,863,229 (GRCm39) |
I237T |
probably damaging |
Het |
| Ddah2 |
T |
C |
17: 35,280,561 (GRCm39) |
L234P |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ephb1 |
A |
C |
9: 101,873,973 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myadml2 |
A |
T |
11: 120,538,656 (GRCm39) |
F60I |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,399,925 (GRCm39) |
V2893A |
probably damaging |
Het |
| Ntn1 |
A |
G |
11: 68,276,120 (GRCm39) |
V276A |
probably benign |
Het |
| Or11h6 |
T |
A |
14: 50,880,062 (GRCm39) |
I102N |
probably damaging |
Het |
| Or4c111 |
A |
T |
2: 88,843,493 (GRCm39) |
I305K |
probably benign |
Het |
| Or7a39 |
A |
G |
10: 78,715,765 (GRCm39) |
Y253C |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,527,551 (GRCm39) |
Y1962C |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,315,080 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,626,009 (GRCm39) |
S1676P |
unknown |
Het |
| Prpf40b |
A |
G |
15: 99,203,047 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,576,345 (GRCm39) |
D305G |
probably benign |
Het |
| Rdh16f2 |
A |
G |
10: 127,712,145 (GRCm39) |
K201E |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 82,991,691 (GRCm39) |
Y439C |
possibly damaging |
Het |
| Son |
G |
T |
16: 91,444,848 (GRCm39) |
|
probably null |
Het |
| Specc1 |
T |
C |
11: 62,022,713 (GRCm39) |
L710P |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,061,524 (GRCm39) |
D592G |
possibly damaging |
Het |
| Tmem237 |
A |
T |
1: 59,147,863 (GRCm39) |
D209E |
probably damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,423 (GRCm39) |
T659A |
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,388 (GRCm39) |
I734N |
probably damaging |
Het |
| Wdr7 |
A |
T |
18: 64,057,980 (GRCm39) |
I1270F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATGCCACTGAGTATTAGTAAC -3'
(R):5'- GTTTGGTGTCTAGCTGACCC -3'
Sequencing Primer
(F):5'- CCACTGAGTATTAGTAACATGCTTAC -3'
(R):5'- GGTGTCTAGCTGACCCATATAGTC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation