Incidental Mutation 'R3694:Ccdc158'
ID |
268900 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc158
|
Ensembl Gene |
ENSMUSG00000050050 |
Gene Name |
coiled-coil domain containing 158 |
Synonyms |
4932413O14Rik |
MMRRC Submission |
040689-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R3694 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92757904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1056
(E1056G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063050
(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 damaging
Transcript: ENSMUST00000060930
AA Change: E1056G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063050 Gene: ENSMUSG00000050050 AA Change: E1056G
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 |
|
Meta Mutation Damage Score |
0.0950 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
A |
G |
7: 12,284,443 (GRCm39) |
I97V |
possibly damaging |
Het |
AI182371 |
A |
G |
2: 34,975,764 (GRCm39) |
C267R |
probably benign |
Het |
Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp8b1 |
G |
A |
18: 64,666,792 (GRCm39) |
T1135I |
possibly damaging |
Het |
Avil |
T |
C |
10: 126,844,199 (GRCm39) |
Y253H |
probably damaging |
Het |
Bcas3 |
G |
T |
11: 85,692,628 (GRCm39) |
V338L |
probably benign |
Het |
Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
Clcn7 |
T |
A |
17: 25,378,681 (GRCm39) |
I722N |
probably damaging |
Het |
Cnga3 |
T |
C |
1: 37,300,821 (GRCm39) |
Y552H |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cyp3a25 |
A |
T |
5: 145,926,786 (GRCm39) |
|
probably null |
Het |
Dmrta1 |
T |
A |
4: 89,580,415 (GRCm39) |
Y458* |
probably null |
Het |
Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
Fads2b |
T |
G |
2: 85,324,454 (GRCm39) |
I291L |
probably benign |
Het |
Fbln5 |
T |
C |
12: 101,731,511 (GRCm39) |
N228D |
probably benign |
Het |
Fmo5 |
T |
C |
3: 97,553,230 (GRCm39) |
F393L |
probably damaging |
Het |
Gpr63 |
A |
G |
4: 25,007,993 (GRCm39) |
Y239C |
probably damaging |
Het |
Ints2 |
T |
C |
11: 86,133,827 (GRCm39) |
M408V |
probably benign |
Het |
Lztr1 |
G |
A |
16: 17,326,925 (GRCm39) |
A12T |
possibly damaging |
Het |
Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
Mutyh |
T |
A |
4: 116,673,651 (GRCm39) |
S146T |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,969,221 (GRCm39) |
K2460E |
probably damaging |
Het |
Or4p18 |
A |
T |
2: 88,232,540 (GRCm39) |
I246N |
possibly damaging |
Het |
Or5b112 |
T |
C |
19: 13,319,893 (GRCm39) |
I257T |
possibly damaging |
Het |
Ppfia4 |
G |
T |
1: 134,240,305 (GRCm39) |
T896K |
probably damaging |
Het |
Ppp2r2a |
C |
A |
14: 67,257,199 (GRCm39) |
D344Y |
probably damaging |
Het |
Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
Scn9a |
T |
G |
2: 66,392,749 (GRCm39) |
E281A |
probably benign |
Het |
Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
Syt7 |
G |
T |
19: 10,413,000 (GRCm39) |
R265L |
possibly damaging |
Het |
Tub |
A |
G |
7: 108,627,039 (GRCm39) |
S313G |
probably benign |
Het |
Vmn2r18 |
A |
G |
5: 151,508,033 (GRCm39) |
F364L |
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,450,044 (GRCm39) |
N97D |
probably damaging |
Het |
Vmn2r85 |
A |
G |
10: 130,254,171 (GRCm39) |
S838P |
probably damaging |
Het |
Vmn2r92 |
T |
A |
17: 18,372,205 (GRCm39) |
L5* |
probably null |
Het |
Zfyve28 |
A |
G |
5: 34,374,812 (GRCm39) |
F401L |
probably 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 |
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'- GTGTGTGCACGCATGTATATATC -3'
(R):5'- GCTGACCCATATAGTCTATCGCTAAC -3'
Sequencing Primer
(F):5'- GCACGCATGTATATATCTTTCTGTG -3'
(R):5'- ATCGCTAACTTCTTCCCATGAG -3'
|
Posted On |
2015-02-19 |