Incidental Mutation 'R6743:Ccdc158'
| ID |
532732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc158
|
| Ensembl Gene |
ENSMUSG00000050050 |
| Gene Name |
coiled-coil domain containing 158 |
| Synonyms |
4932413O14Rik |
| MMRRC Submission |
044860-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R6743 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92810005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 168
(S168G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060930]
[ENSMUST00000150359]
[ENSMUST00000151180]
|
| AlphaFold |
Q8CDI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060930
AA Change: S168G
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000063050
Gene: ENSMUSG00000050050
AA Change: S168G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150359
AA Change: S168G
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000123259
Gene: ENSMUSG00000050050
AA Change: S168G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC158
|
1 |
346 |
1.5e-220 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151180
AA Change: S168G
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117894
Gene: ENSMUSG00000050050
AA Change: S168G
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
C |
T |
17: 31,327,321 (GRCm39) |
R339C |
possibly damaging |
Het |
| Adamts6 |
G |
A |
13: 104,565,436 (GRCm39) |
G721R |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,171,274 (GRCm39) |
V1045A |
probably benign |
Het |
| Agbl3 |
T |
C |
6: 34,823,888 (GRCm39) |
I856T |
probably benign |
Het |
| Anapc1 |
T |
A |
2: 128,526,454 (GRCm39) |
K115* |
probably null |
Het |
| Arc |
A |
G |
15: 74,543,636 (GRCm39) |
S196P |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,447,562 (GRCm39) |
I768T |
possibly damaging |
Het |
| Blk |
C |
T |
14: 63,622,375 (GRCm39) |
R55H |
probably benign |
Het |
| Cda |
G |
T |
4: 138,066,253 (GRCm39) |
T128K |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,791,799 (GRCm39) |
T2601S |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,013,847 (GRCm39) |
V1545A |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,309,971 (GRCm39) |
N6264K |
probably damaging |
Het |
| Ednra |
T |
C |
8: 78,401,718 (GRCm39) |
S191G |
probably damaging |
Het |
| Elk3 |
A |
T |
10: 93,100,912 (GRCm39) |
S280T |
possibly damaging |
Het |
| Etnk1 |
A |
G |
6: 143,126,343 (GRCm39) |
I63V |
possibly damaging |
Het |
| Fscb |
A |
G |
12: 64,518,347 (GRCm39) |
S1040P |
unknown |
Het |
| Gm14295 |
T |
G |
2: 176,502,420 (GRCm39) |
C637G |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,997 (GRCm39) |
T541A |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,042,849 (GRCm39) |
F240L |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,454,766 (GRCm39) |
I1219L |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,711,173 (GRCm39) |
Y152C |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,322,683 (GRCm39) |
A327T |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,366,475 (GRCm39) |
Y553F |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,804,803 (GRCm39) |
|
probably null |
Het |
| Or14j1 |
A |
C |
17: 38,146,694 (GRCm39) |
D268A |
probably damaging |
Het |
| Or5b3 |
C |
T |
19: 13,387,957 (GRCm39) |
T8I |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,823,774 (GRCm39) |
V219A |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,918,929 (GRCm39) |
I310T |
possibly damaging |
Het |
| Pde6a |
T |
A |
18: 61,397,057 (GRCm39) |
F634L |
possibly damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,757,370 (GRCm39) |
C1556F |
probably damaging |
Het |
| Prdm5 |
G |
A |
6: 65,860,635 (GRCm39) |
V440I |
probably damaging |
Het |
| Rasa2 |
T |
C |
9: 96,493,493 (GRCm39) |
T64A |
probably damaging |
Het |
| Sec24b |
A |
T |
3: 129,834,881 (GRCm39) |
Y106N |
probably damaging |
Het |
| Sfswap |
C |
T |
5: 129,627,883 (GRCm39) |
Q689* |
probably null |
Het |
| Slamf8 |
C |
T |
1: 172,417,965 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
G |
A |
10: 78,588,726 (GRCm39) |
T28M |
probably benign |
Het |
| Tmt1a3 |
A |
G |
15: 100,233,123 (GRCm39) |
K105E |
probably benign |
Het |
| Tsr1 |
T |
C |
11: 74,799,177 (GRCm39) |
V786A |
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zmynd10 |
T |
C |
9: 107,425,079 (GRCm39) |
I58T |
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 |
|
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 |
|
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'- GGATTTTACTAATAGCTGAGCCCAG -3'
(R):5'- GCCATGGCTGATATCAGGTTGG -3'
Sequencing Primer
(F):5'- CAGGCTGCGGAAGTGCATG -3'
(R):5'- TCCACAAGTGCTAGAGCTTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation