Incidental Mutation 'R8028:Ccdc158'
ID |
628859 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc158
|
Ensembl Gene |
ENSMUSG00000050050 |
Gene Name |
coiled-coil domain containing 158 |
Synonyms |
4932413O14Rik |
MMRRC Submission |
067467-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R8028 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 92782110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 836
(H836Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063050
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060930]
|
AlphaFold |
Q8CDI6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060930
AA Change: H836Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063050 Gene: ENSMUSG00000050050 AA Change: H836Q
Domain | Start | End | E-Value | Type |
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212060
AA Change: H168Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.2178 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 96.4%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
G |
A |
17: 24,626,671 (GRCm39) |
R1500Q |
probably benign |
Het |
Arhgap21 |
C |
T |
2: 20,885,216 (GRCm39) |
V664M |
probably benign |
Het |
Arhgef11 |
T |
C |
3: 87,642,859 (GRCm39) |
V1464A |
probably benign |
Het |
Ccdc121 |
G |
T |
5: 31,645,266 (GRCm39) |
V340F |
possibly damaging |
Het |
Clcn2 |
T |
A |
16: 20,527,512 (GRCm39) |
Y584F |
possibly damaging |
Het |
Csn1s2b |
G |
T |
5: 87,966,951 (GRCm39) |
M84I |
probably benign |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Gimap4 |
A |
T |
6: 48,667,684 (GRCm39) |
R146S |
probably damaging |
Het |
Gm20671 |
T |
C |
5: 32,952,958 (GRCm39) |
N184S |
possibly damaging |
Het |
Gpr179 |
T |
C |
11: 97,228,627 (GRCm39) |
E1176G |
probably damaging |
Het |
Hif1a |
T |
C |
12: 73,988,801 (GRCm39) |
S589P |
probably benign |
Het |
Kcna7 |
T |
A |
7: 45,058,947 (GRCm39) |
C411* |
probably null |
Het |
Kel |
C |
T |
6: 41,675,958 (GRCm39) |
S244N |
probably benign |
Het |
Lama2 |
A |
T |
10: 27,204,145 (GRCm39) |
S498T |
probably benign |
Het |
Map4 |
C |
T |
9: 109,897,812 (GRCm39) |
T846I |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,194,502 (GRCm39) |
V1571A |
possibly damaging |
Het |
Osbpl5 |
T |
C |
7: 143,269,472 (GRCm39) |
T47A |
probably benign |
Het |
Parl |
T |
C |
16: 20,098,801 (GRCm39) |
K353E |
probably benign |
Het |
Pcdhb17 |
G |
A |
18: 37,620,502 (GRCm39) |
S764N |
probably benign |
Het |
Poglut1 |
A |
G |
16: 38,355,095 (GRCm39) |
S244P |
probably damaging |
Het |
Polq |
C |
T |
16: 36,881,678 (GRCm39) |
H1281Y |
possibly damaging |
Het |
Rsf1 |
CG |
CGACCGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sardh |
C |
T |
2: 27,120,467 (GRCm39) |
M438I |
probably damaging |
Het |
Slc14a1 |
T |
C |
18: 78,159,727 (GRCm39) |
I55M |
probably benign |
Het |
Slc22a12 |
T |
A |
19: 6,588,469 (GRCm39) |
T350S |
probably benign |
Het |
Srrt |
CACCTTCTCCCCAGAACCCCACACCTTACCTG |
C |
5: 137,300,760 (GRCm39) |
|
probably benign |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
Stk38l |
T |
C |
6: 146,674,881 (GRCm39) |
F382S |
probably damaging |
Het |
Swt1 |
G |
T |
1: 151,260,248 (GRCm39) |
T717K |
probably benign |
Het |
Tmem230 |
A |
G |
2: 132,085,985 (GRCm39) |
L59P |
probably benign |
Het |
Vmn2r98 |
A |
T |
17: 19,273,912 (GRCm39) |
Y53F |
probably benign |
Het |
Zscan12 |
C |
T |
13: 21,553,022 (GRCm39) |
S282L |
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 |
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 |
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'- TCACAAGGTGGACACACTGAG -3'
(R):5'- AATACAGTGTGCCGGGGTAG -3'
Sequencing Primer
(F):5'- ACCTAGTCAGTGAGTTCCAGG -3'
(R):5'- AGATGGTTTTCCTTGAAGAGCTG -3'
|
Posted On |
2020-06-30 |