Incidental Mutation 'R3912:Ccdc158'
ID |
309448 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc158
|
Ensembl Gene |
ENSMUSG00000050050 |
Gene Name |
coiled-coil domain containing 158 |
Synonyms |
4932413O14Rik |
MMRRC Submission |
040910-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R3912 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 92796794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 514
(T514S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063050
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060930]
[ENSMUST00000150359]
[ENSMUST00000151180]
|
AlphaFold |
Q8CDI6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060930
AA Change: T514S
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000063050 Gene: ENSMUSG00000050050 AA Change: T514S
Domain | Start | End | E-Value | Type |
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150359
|
SMART Domains |
Protein: ENSMUSP00000123259 Gene: ENSMUSG00000050050
Domain | Start | End | E-Value | Type |
Pfam:CCDC158
|
1 |
346 |
1.5e-220 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151180
|
SMART Domains |
Protein: ENSMUSP00000117894 Gene: ENSMUSG00000050050
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 |
0.0855 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot1 |
A |
G |
12: 84,063,806 (GRCm39) |
S305G |
probably damaging |
Het |
Acot12 |
A |
G |
13: 91,918,208 (GRCm39) |
D167G |
probably benign |
Het |
Adgra1 |
T |
C |
7: 139,425,630 (GRCm39) |
|
probably null |
Het |
Adh7 |
T |
A |
3: 137,927,541 (GRCm39) |
V29E |
probably damaging |
Het |
Aopep |
G |
T |
13: 63,304,520 (GRCm39) |
E402* |
probably null |
Het |
Atp2c2 |
A |
G |
8: 120,448,015 (GRCm39) |
K103E |
probably damaging |
Het |
Camkk1 |
A |
G |
11: 72,924,642 (GRCm39) |
D285G |
probably benign |
Het |
Cdhr5 |
T |
A |
7: 140,853,770 (GRCm39) |
D210V |
probably damaging |
Het |
Cndp1 |
C |
T |
18: 84,650,124 (GRCm39) |
D190N |
probably benign |
Het |
Eepd1 |
C |
T |
9: 25,394,600 (GRCm39) |
T288M |
probably damaging |
Het |
Erbin |
G |
T |
13: 103,998,795 (GRCm39) |
T197K |
probably benign |
Het |
Erbin |
G |
A |
13: 104,022,846 (GRCm39) |
|
probably benign |
Het |
Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
Gbp3 |
C |
T |
3: 142,272,099 (GRCm39) |
|
probably benign |
Het |
Gm14326 |
T |
C |
2: 177,587,658 (GRCm39) |
K446R |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,748,185 (GRCm39) |
Y518H |
probably damaging |
Het |
Id2 |
T |
A |
12: 25,145,871 (GRCm39) |
K47* |
probably null |
Het |
Ilf2 |
A |
G |
3: 90,394,367 (GRCm39) |
N295S |
probably benign |
Het |
Ilf3 |
C |
T |
9: 21,309,422 (GRCm39) |
A526V |
possibly damaging |
Het |
Ints10 |
T |
A |
8: 69,266,272 (GRCm39) |
S478T |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lrrc7 |
G |
A |
3: 157,997,589 (GRCm39) |
L158F |
probably damaging |
Het |
Mroh9 |
C |
T |
1: 162,893,638 (GRCm39) |
C179Y |
probably damaging |
Het |
Mrps18b |
C |
T |
17: 36,221,831 (GRCm39) |
V165I |
probably benign |
Het |
Myrip |
A |
G |
9: 120,261,682 (GRCm39) |
S432G |
probably benign |
Het |
Nutm2 |
C |
T |
13: 50,626,976 (GRCm39) |
A377V |
possibly damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
Pate4 |
C |
A |
9: 35,523,140 (GRCm39) |
M1I |
probably null |
Het |
Pax7 |
C |
A |
4: 139,508,209 (GRCm39) |
W272L |
probably benign |
Het |
Ppp1r12b |
C |
T |
1: 134,815,056 (GRCm39) |
E320K |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,327,619 (GRCm39) |
Y278C |
probably damaging |
Het |
Pvr |
T |
C |
7: 19,643,217 (GRCm39) |
N339D |
probably benign |
Het |
Rev3l |
A |
G |
10: 39,696,552 (GRCm39) |
I521M |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,787,313 (GRCm39) |
I1020T |
probably damaging |
Het |
Scn4a |
T |
A |
11: 106,211,542 (GRCm39) |
I1492F |
probably damaging |
Het |
Sec16a |
C |
T |
2: 26,304,399 (GRCm39) |
G2304D |
probably damaging |
Het |
Shisa7 |
T |
A |
7: 4,833,239 (GRCm39) |
R341* |
probably null |
Het |
Slc19a3 |
T |
A |
1: 83,000,424 (GRCm39) |
M198L |
probably benign |
Het |
Slc26a8 |
T |
A |
17: 28,863,753 (GRCm39) |
N669Y |
possibly damaging |
Het |
Slco1a7 |
A |
G |
6: 141,673,362 (GRCm39) |
F392S |
probably damaging |
Het |
Snap91 |
T |
C |
9: 86,674,610 (GRCm39) |
T534A |
possibly damaging |
Het |
Susd4 |
A |
T |
1: 182,715,031 (GRCm39) |
Y284F |
probably damaging |
Het |
Tas1r1 |
A |
T |
4: 152,116,381 (GRCm39) |
Y418N |
probably damaging |
Het |
Tdrd12 |
A |
G |
7: 35,187,138 (GRCm39) |
I584T |
probably damaging |
Het |
Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
Vmn1r39 |
C |
T |
6: 66,782,125 (GRCm39) |
M27I |
probably benign |
Het |
Vmn2r59 |
T |
C |
7: 41,695,744 (GRCm39) |
T223A |
probably benign |
Het |
Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
Vwa5a |
T |
C |
9: 38,646,039 (GRCm39) |
I469T |
probably damaging |
Het |
Wnt3a |
A |
C |
11: 59,140,828 (GRCm39) |
D229E |
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 |
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'- GAGCCTTCTCCACTTGCATG -3'
(R):5'- TCTGGAGAAAGTGTCCTCCC -3'
Sequencing Primer
(F):5'- TGGCCTACCAGCTGAGTCATG -3'
(R):5'- GAGAAAGTGTCCTCCCTCACTG -3'
|
Posted On |
2015-04-17 |