Incidental Mutation 'R6562:Ccdc158'
ID |
522433 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc158
|
Ensembl Gene |
ENSMUSG00000050050 |
Gene Name |
coiled-coil domain containing 158 |
Synonyms |
4932413O14Rik |
MMRRC Submission |
044686-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R6562 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
92756096-92823327 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 92810581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 102
(K102N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060930]
[ENSMUST00000150359]
[ENSMUST00000151180]
|
AlphaFold |
Q8CDI6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060930
AA Change: K102N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000063050 Gene: ENSMUSG00000050050 AA Change: K102N
Domain | Start | End | E-Value | Type |
Pfam:CCDC158
|
1 |
1109 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150359
AA Change: K102N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123259 Gene: ENSMUSG00000050050 AA Change: K102N
Domain | Start | End | E-Value | Type |
Pfam:CCDC158
|
1 |
346 |
1.5e-220 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151180
AA Change: K102N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117894 Gene: ENSMUSG00000050050 AA Change: K102N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
A |
G |
3: 89,970,543 (GRCm39) |
K26E |
probably benign |
Het |
Abt1 |
T |
G |
13: 23,607,758 (GRCm39) |
E82A |
probably damaging |
Het |
Actr8 |
A |
G |
14: 29,708,411 (GRCm39) |
|
probably null |
Het |
Akap12 |
G |
T |
10: 4,306,141 (GRCm39) |
E984* |
probably null |
Het |
Ankrd13a |
C |
A |
5: 114,942,453 (GRCm39) |
|
probably benign |
Het |
Ankrd13c |
T |
A |
3: 157,705,309 (GRCm39) |
S411T |
probably damaging |
Het |
Arhgef28 |
A |
G |
13: 98,124,647 (GRCm39) |
|
probably null |
Het |
Arhgef3 |
A |
T |
14: 26,874,953 (GRCm39) |
|
probably benign |
Het |
Atad5 |
T |
C |
11: 80,024,032 (GRCm39) |
S1712P |
probably benign |
Het |
Bbs12 |
A |
G |
3: 37,374,389 (GRCm39) |
E394G |
probably damaging |
Het |
Ccdc169 |
A |
G |
3: 55,058,235 (GRCm39) |
N89S |
probably damaging |
Het |
Cd200l1 |
C |
T |
16: 45,264,442 (GRCm39) |
E39K |
probably benign |
Het |
Cenpu |
T |
C |
8: 47,025,858 (GRCm39) |
I132T |
possibly damaging |
Het |
Cnrip1 |
G |
A |
11: 17,028,539 (GRCm39) |
W157* |
probably null |
Het |
Ctnnd1 |
A |
G |
2: 84,454,652 (GRCm39) |
S53P |
probably benign |
Het |
Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
T |
4: 98,879,647 (GRCm39) |
V969D |
probably damaging |
Het |
Ehd2 |
C |
A |
7: 15,691,492 (GRCm39) |
R280L |
probably benign |
Het |
Entpd5 |
T |
C |
12: 84,432,974 (GRCm39) |
T218A |
probably damaging |
Het |
Fcrl2 |
A |
C |
3: 87,164,635 (GRCm39) |
I297S |
probably benign |
Het |
Frmpd2 |
T |
A |
14: 33,293,872 (GRCm39) |
L1346Q |
probably benign |
Het |
Fry |
T |
C |
5: 150,249,614 (GRCm39) |
S142P |
probably damaging |
Het |
Gbgt1 |
A |
T |
2: 28,394,898 (GRCm39) |
I179F |
probably damaging |
Het |
Gm17067 |
A |
T |
7: 42,358,153 (GRCm39) |
S116R |
probably damaging |
Het |
Gm5565 |
G |
T |
5: 146,094,964 (GRCm39) |
P261T |
probably damaging |
Het |
Kat6a |
T |
C |
8: 23,401,803 (GRCm39) |
F391L |
probably benign |
Het |
Kcnmb4 |
A |
T |
10: 116,309,089 (GRCm39) |
|
probably null |
Het |
Krt6a |
T |
A |
15: 101,600,094 (GRCm39) |
H386L |
probably benign |
Het |
L3mbtl1 |
C |
T |
2: 162,812,124 (GRCm39) |
T723I |
probably benign |
Het |
Lamb2 |
A |
T |
9: 108,364,207 (GRCm39) |
R1049W |
possibly damaging |
Het |
Lrmda |
T |
C |
14: 22,648,254 (GRCm39) |
|
probably benign |
Het |
Lysmd2 |
C |
T |
9: 75,542,691 (GRCm39) |
T95I |
unknown |
Het |
Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
Nin |
T |
C |
12: 70,102,728 (GRCm39) |
D300G |
probably damaging |
Het |
Nutf2 |
G |
T |
8: 106,602,258 (GRCm39) |
D23Y |
probably benign |
Het |
Or6c211 |
G |
A |
10: 129,506,008 (GRCm39) |
P127S |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,887,589 (GRCm39) |
Y300C |
probably damaging |
Het |
Pgghg |
A |
G |
7: 140,526,506 (GRCm39) |
I633V |
probably benign |
Het |
Pik3r3 |
C |
T |
4: 116,157,006 (GRCm39) |
Q496* |
probably null |
Het |
Pkn3 |
G |
T |
2: 29,970,699 (GRCm39) |
|
probably null |
Het |
Plin2 |
A |
T |
4: 86,576,832 (GRCm39) |
S298T |
probably benign |
Het |
Prdm8 |
T |
C |
5: 98,331,202 (GRCm39) |
V18A |
possibly damaging |
Het |
Rel |
C |
A |
11: 23,707,026 (GRCm39) |
G59* |
probably null |
Het |
Siglecg |
A |
G |
7: 43,058,481 (GRCm39) |
R123G |
possibly damaging |
Het |
Slc13a1 |
T |
A |
6: 24,150,792 (GRCm39) |
I49F |
probably benign |
Het |
Slc39a10 |
T |
A |
1: 46,874,724 (GRCm39) |
T193S |
probably benign |
Het |
Slc9a3 |
T |
A |
13: 74,303,280 (GRCm39) |
V191E |
probably damaging |
Het |
Spata31e2 |
T |
A |
1: 26,721,443 (GRCm39) |
T1246S |
possibly damaging |
Het |
Sult2b1 |
A |
C |
7: 45,391,670 (GRCm39) |
S39A |
probably benign |
Het |
Tead1 |
A |
G |
7: 112,460,650 (GRCm39) |
T185A |
probably benign |
Het |
Tmem67 |
A |
G |
4: 12,053,445 (GRCm39) |
|
probably null |
Het |
Trim12c |
A |
T |
7: 103,994,341 (GRCm39) |
|
probably null |
Het |
Trpm6 |
T |
A |
19: 18,815,406 (GRCm39) |
F1164Y |
probably damaging |
Het |
Ube2d1 |
C |
T |
10: 71,098,071 (GRCm39) |
D16N |
probably benign |
Het |
Vmn2r24 |
A |
T |
6: 123,757,386 (GRCm39) |
I85F |
probably benign |
Het |
Vwde |
T |
A |
6: 13,193,122 (GRCm39) |
N406Y |
possibly damaging |
Het |
Wdr54 |
A |
T |
6: 83,132,050 (GRCm39) |
|
probably null |
Het |
Zcchc14 |
A |
T |
8: 122,330,842 (GRCm39) |
N840K |
probably damaging |
Het |
Zfp451 |
C |
A |
1: 33,801,260 (GRCm39) |
S1052I |
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 |
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 |
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'- GACTCTCCCTTCGTCTAGGAAATG -3'
(R):5'- AGCTGGAAGACAGATTTGTTTCTC -3'
Sequencing Primer
(F):5'- CAAGTATTTGGGACTCCACCAGTG -3'
(R):5'- CCCTTGAGAAATTATTGTTTATAGG -3'
|
Posted On |
2018-06-06 |