Incidental Mutation 'R4026:Ccdc158'
| ID |
312980 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc158
|
| Ensembl Gene |
ENSMUSG00000050050 |
| Gene Name |
coiled-coil domain containing 158 |
| Synonyms |
4932413O14Rik |
| MMRRC Submission |
040849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R4026 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92791666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 698
(M698T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060930]
|
| AlphaFold |
Q8CDI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060930
AA Change: M698T
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000063050
Gene: ENSMUSG00000050050
AA Change: M698T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212060
AA Change: M26T
|
| Meta Mutation Damage Score |
0.0954 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
| Ahnak |
G |
T |
19: 8,988,663 (GRCm39) |
V3316F |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 85,307,962 (GRCm39) |
T1409I |
probably damaging |
Het |
| Ces2g |
T |
A |
8: 105,691,377 (GRCm39) |
V171E |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
| Dspp |
G |
A |
5: 104,325,563 (GRCm39) |
S642N |
unknown |
Het |
| Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
| Gm10754 |
A |
G |
10: 97,517,978 (GRCm39) |
|
probably benign |
Het |
| Gm5581 |
G |
A |
6: 131,144,031 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7929 |
T |
C |
14: 41,472,509 (GRCm39) |
K21E |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,598,120 (GRCm39) |
D1727E |
probably benign |
Het |
| Lrriq4 |
T |
C |
3: 30,704,422 (GRCm39) |
V150A |
possibly damaging |
Het |
| Micu3 |
A |
G |
8: 40,812,496 (GRCm39) |
|
probably benign |
Het |
| Mrpl3 |
T |
C |
9: 104,948,685 (GRCm39) |
|
probably null |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,476,295 (GRCm39) |
I265V |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,598,720 (GRCm39) |
T68A |
probably benign |
Het |
| Oprk1 |
T |
C |
1: 5,668,908 (GRCm39) |
V118A |
probably benign |
Het |
| Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
| Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
| Srsf6 |
T |
A |
2: 162,776,211 (GRCm39) |
|
probably benign |
Het |
| Tas2r105 |
A |
G |
6: 131,663,789 (GRCm39) |
V213A |
probably benign |
Het |
| Tlr12 |
C |
T |
4: 128,510,301 (GRCm39) |
E650K |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trav4-2 |
T |
A |
14: 53,656,287 (GRCm39) |
D96E |
possibly damaging |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,671 (GRCm39) |
S685T |
possibly damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,689,500 (GRCm39) |
M1T |
probably null |
Het |
| Wdr20 |
A |
G |
12: 110,759,950 (GRCm39) |
T279A |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,577,721 (GRCm39) |
S1131P |
possibly damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,641,296 (GRCm39) |
V120A |
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 |
|
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 |
|
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'- TGTCAACCTCCCTTAAATCGG -3'
(R):5'- AAGACGAGACCCTTGGAAGTC -3'
Sequencing Primer
(F):5'- CACTGAGGTGTGTCTTTCTCACG -3'
(R):5'- CGAGACCCTTGGAAGTCTGTAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation