Incidental Mutation 'R5050:Ccdc158'
ID |
394587 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc158
|
Ensembl Gene |
ENSMUSG00000050050 |
Gene Name |
coiled-coil domain containing 158 |
Synonyms |
4932413O14Rik |
MMRRC Submission |
042640-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R5050 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 92814738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 29
(F29L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060930]
[ENSMUST00000150359]
[ENSMUST00000151180]
|
AlphaFold |
Q8CDI6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060930
AA Change: F29L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000063050 Gene: ENSMUSG00000050050 AA Change: F29L
Domain | Start | End | E-Value | Type |
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150359
AA Change: F29L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000123259 Gene: ENSMUSG00000050050 AA Change: F29L
Domain | Start | End | E-Value | Type |
Pfam:CCDC158
|
1 |
346 |
1.5e-220 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151180
AA Change: F29L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000117894 Gene: ENSMUSG00000050050 AA Change: F29L
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 |
|
Meta Mutation Damage Score |
0.0665 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
100% (69/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
G |
19: 8,989,822 (GRCm39) |
|
probably benign |
Het |
Ap3m1 |
A |
G |
14: 21,094,843 (GRCm39) |
I108T |
probably benign |
Het |
Apobec1 |
T |
C |
6: 122,568,061 (GRCm39) |
M1V |
probably null |
Het |
Aqr |
A |
T |
2: 113,943,090 (GRCm39) |
L1161* |
probably null |
Het |
Aqr |
A |
T |
2: 114,000,506 (GRCm39) |
|
probably null |
Het |
Arhgef37 |
A |
G |
18: 61,637,402 (GRCm39) |
I420T |
probably benign |
Het |
Cacna1g |
C |
T |
11: 94,350,541 (GRCm39) |
E435K |
probably damaging |
Het |
Card6 |
G |
T |
15: 5,129,858 (GRCm39) |
H513N |
probably benign |
Het |
Ccr6 |
T |
C |
17: 8,474,936 (GRCm39) |
L47S |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,900,018 (GRCm39) |
Y444* |
probably null |
Het |
Cdh17 |
A |
G |
4: 11,784,654 (GRCm39) |
Y270C |
probably damaging |
Het |
Cdh9 |
T |
C |
15: 16,778,233 (GRCm39) |
F16S |
probably benign |
Het |
Cdkl1 |
T |
C |
12: 69,804,014 (GRCm39) |
K141R |
probably damaging |
Het |
Cfhr4 |
T |
A |
1: 139,664,578 (GRCm39) |
I494F |
probably damaging |
Het |
Chd4 |
T |
C |
6: 125,084,443 (GRCm39) |
Y692H |
probably damaging |
Het |
Dhrs7 |
T |
A |
12: 72,704,184 (GRCm39) |
D104V |
probably damaging |
Het |
Dhtkd1 |
A |
T |
2: 5,922,500 (GRCm39) |
L553Q |
probably benign |
Het |
Dnah7a |
T |
G |
1: 53,536,255 (GRCm39) |
D2596A |
probably benign |
Het |
Dync1li2 |
T |
C |
8: 105,164,073 (GRCm39) |
K151E |
probably damaging |
Het |
Eno4 |
C |
T |
19: 58,943,928 (GRCm39) |
H297Y |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,019,156 (GRCm39) |
D976E |
possibly damaging |
Het |
Fhip2a |
T |
A |
19: 57,371,602 (GRCm39) |
F571L |
probably damaging |
Het |
Gm4553 |
C |
A |
7: 141,718,773 (GRCm39) |
K218N |
unknown |
Het |
Gpld1 |
A |
T |
13: 25,146,739 (GRCm39) |
T234S |
probably benign |
Het |
Gtpbp6 |
A |
T |
5: 110,252,567 (GRCm39) |
|
probably benign |
Het |
Gucy2g |
T |
C |
19: 55,229,367 (GRCm39) |
E101G |
probably benign |
Het |
Gvin3 |
T |
C |
7: 106,196,179 (GRCm39) |
|
noncoding transcript |
Het |
Hira |
G |
A |
16: 18,744,609 (GRCm39) |
R442K |
possibly damaging |
Het |
Hrh3 |
A |
G |
2: 179,742,350 (GRCm39) |
L394P |
probably damaging |
Het |
Igkv1-110 |
T |
A |
6: 68,248,176 (GRCm39) |
F95Y |
probably damaging |
Het |
Iqgap3 |
T |
G |
3: 87,997,493 (GRCm39) |
V223G |
probably damaging |
Het |
Itpk1 |
T |
C |
12: 102,671,069 (GRCm39) |
T3A |
probably damaging |
Het |
Jag1 |
A |
G |
2: 136,927,074 (GRCm39) |
V895A |
possibly damaging |
Het |
Kazn |
G |
A |
4: 141,845,514 (GRCm39) |
|
probably benign |
Het |
Large2 |
A |
T |
2: 92,198,124 (GRCm39) |
L282Q |
probably benign |
Het |
Lgmn |
A |
G |
12: 102,369,680 (GRCm39) |
|
probably null |
Het |
Lrp4 |
A |
T |
2: 91,322,767 (GRCm39) |
I1119F |
probably benign |
Het |
Map3k19 |
T |
C |
1: 127,751,299 (GRCm39) |
H684R |
probably benign |
Het |
Mier3 |
C |
T |
13: 111,851,107 (GRCm39) |
A367V |
possibly damaging |
Het |
Mpdz |
A |
G |
4: 81,213,685 (GRCm39) |
V1579A |
probably benign |
Het |
Mroh2b |
A |
T |
15: 4,929,932 (GRCm39) |
D6V |
possibly damaging |
Het |
Myh7b |
A |
G |
2: 155,473,670 (GRCm39) |
I1568V |
probably benign |
Het |
Or52e8b |
T |
A |
7: 104,673,594 (GRCm39) |
I198F |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,127,766 (GRCm39) |
|
probably benign |
Het |
Plek |
T |
C |
11: 16,945,216 (GRCm39) |
D38G |
probably damaging |
Het |
Polr2f |
A |
G |
15: 79,028,862 (GRCm39) |
|
probably benign |
Het |
Samsn1 |
A |
G |
16: 75,685,645 (GRCm39) |
S38P |
probably benign |
Het |
Sf1 |
C |
T |
19: 6,422,589 (GRCm39) |
T248I |
probably damaging |
Het |
Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
Sharpin |
A |
T |
15: 76,232,530 (GRCm39) |
L160H |
probably damaging |
Het |
Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
Syn3 |
T |
C |
10: 86,243,532 (GRCm39) |
T136A |
probably benign |
Het |
Tcam1 |
G |
A |
11: 106,176,278 (GRCm39) |
V335M |
possibly damaging |
Het |
Tedc1 |
G |
T |
12: 113,120,325 (GRCm39) |
V56L |
possibly damaging |
Het |
Tenm4 |
T |
C |
7: 96,544,995 (GRCm39) |
L2337P |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,715,155 (GRCm39) |
|
probably benign |
Het |
Tysnd1 |
T |
A |
10: 61,532,050 (GRCm39) |
I234N |
probably damaging |
Het |
Vmn2r51 |
T |
C |
7: 9,834,349 (GRCm39) |
K230E |
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 |
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 |
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'- CGTTGAGTCTTCTCTGCAAATC -3'
(R):5'- AGTACAGAGGTCACGTGCTC -3'
Sequencing Primer
(F):5'- TGAGTCTTCTCTGCAAATCTTTAAC -3'
(R):5'- AGGTCACGTGCTCACCCTC -3'
|
Posted On |
2016-06-15 |