Incidental Mutation 'R9511:Ccdc168'
| ID |
718140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R9511 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 44098854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 748
(D748A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168641]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168641
AA Change: D748A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: D748A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC168_N
|
2 |
202 |
2.5e-83 |
PFAM |
|
Pfam:CCDC168_N
|
200 |
302 |
1.7e-26 |
PFAM |
|
Pfam:CCDC168_N
|
347 |
397 |
2.1e-4 |
PFAM |
|
Pfam:CCDC168_N
|
437 |
581 |
8.5e-8 |
PFAM |
|
Pfam:CCDC168_N
|
663 |
802 |
6.3e-5 |
PFAM |
|
Pfam:CCDC168_N
|
788 |
955 |
1e-9 |
PFAM |
|
low complexity region
|
1803 |
1819 |
N/A |
INTRINSIC |
|
low complexity region
|
1830 |
1847 |
N/A |
INTRINSIC |
|
low complexity region
|
1968 |
1984 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,445,848 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,278,130 (GRCm39) |
S3103R |
probably benign |
Het |
| Alg9 |
A |
C |
9: 50,717,525 (GRCm39) |
Y436S |
probably damaging |
Het |
| Ankar |
G |
A |
1: 72,719,161 (GRCm39) |
R563C |
probably benign |
Het |
| Ankrd34a |
C |
A |
3: 96,505,401 (GRCm39) |
R202S |
probably benign |
Het |
| Art4 |
T |
A |
6: 136,831,613 (GRCm39) |
N176I |
possibly damaging |
Het |
| Bivm |
A |
G |
1: 44,182,250 (GRCm39) |
E486G |
possibly damaging |
Het |
| Ccdc3 |
C |
A |
2: 5,143,090 (GRCm39) |
Q116K |
probably damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,261,372 (GRCm39) |
P1656S |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,034,677 (GRCm39) |
D661G |
probably damaging |
Het |
| Chek1 |
T |
C |
9: 36,624,747 (GRCm39) |
N368S |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,878,352 (GRCm39) |
F3924L |
probably damaging |
Het |
| Dusp7 |
T |
C |
9: 106,248,125 (GRCm39) |
I251T |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,090,650 (GRCm39) |
W988R |
probably damaging |
Het |
| Dzip1l |
T |
C |
9: 99,519,710 (GRCm39) |
V79A |
possibly damaging |
Het |
| Ebf1 |
A |
G |
11: 44,815,393 (GRCm39) |
I344V |
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,776,823 (GRCm39) |
E336G |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,034,802 (GRCm39) |
L2818P |
probably damaging |
Het |
| Gjb3 |
T |
C |
4: 127,220,131 (GRCm39) |
S134G |
probably damaging |
Het |
| Gm10647 |
T |
C |
9: 66,705,756 (GRCm39) |
F108L |
unknown |
Het |
| Gm19410 |
A |
T |
8: 36,257,848 (GRCm39) |
D762V |
probably damaging |
Het |
| Gper1 |
A |
G |
5: 139,412,138 (GRCm39) |
K161R |
probably benign |
Het |
| Grin1 |
A |
G |
2: 25,187,426 (GRCm39) |
M628T |
probably damaging |
Het |
| Gsdmc |
A |
T |
15: 63,649,897 (GRCm39) |
D331E |
probably benign |
Het |
| Haus3 |
C |
A |
5: 34,325,571 (GRCm39) |
W29C |
probably damaging |
Het |
| Il10ra |
T |
C |
9: 45,167,690 (GRCm39) |
E289G |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,361,793 (GRCm39) |
T1133A |
possibly damaging |
Het |
| Ksr1 |
G |
A |
11: 78,924,094 (GRCm39) |
T458M |
possibly damaging |
Het |
| Mc5r |
T |
A |
18: 68,472,565 (GRCm39) |
M308K |
possibly damaging |
Het |
| Mis18a |
T |
C |
16: 90,518,525 (GRCm39) |
S146G |
possibly damaging |
Het |
| Mrpl50 |
G |
A |
4: 49,514,501 (GRCm39) |
R57* |
probably null |
Het |
| Mtfmt |
C |
T |
9: 65,343,147 (GRCm39) |
R18C |
probably benign |
Het |
| Nanos1 |
T |
A |
19: 60,745,413 (GRCm39) |
I237N |
probably damaging |
Het |
| Ncor1 |
TGC |
TGCGGC |
11: 62,324,449 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,400,555 (GRCm39) |
E450D |
probably damaging |
Het |
| Nek10 |
C |
A |
14: 14,828,511 (GRCm38) |
T111K |
probably benign |
Het |
| Nipal2 |
T |
C |
15: 34,584,833 (GRCm39) |
Y245C |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,473,406 (GRCm39) |
D399E |
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,429,738 (GRCm39) |
S378G |
probably damaging |
Het |
| Or5b102 |
T |
C |
19: 13,041,119 (GRCm39) |
S115P |
probably damaging |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pex16 |
A |
T |
2: 92,209,559 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
T |
15: 76,058,897 (GRCm39) |
I3680N |
probably damaging |
Het |
| Plin3 |
A |
T |
17: 56,591,225 (GRCm39) |
V185E |
probably damaging |
Het |
| Prex1 |
T |
A |
2: 166,413,481 (GRCm39) |
D1512V |
probably damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,792,913 (GRCm39) |
S355T |
probably benign |
Het |
| Ranbp3l |
A |
G |
15: 9,041,991 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,351,611 (GRCm39) |
I790T |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,499,943 (GRCm39) |
F340L |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,828,916 (GRCm39) |
T341A |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,721,921 (GRCm39) |
Y374H |
probably damaging |
Het |
| Slitrk3 |
T |
G |
3: 72,958,272 (GRCm39) |
S167R |
possibly damaging |
Het |
| Smchd1 |
G |
A |
17: 71,750,899 (GRCm39) |
H340Y |
possibly damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,666,521 (GRCm39) |
R129Q |
probably benign |
Het |
| Sox9 |
A |
G |
11: 112,676,001 (GRCm39) |
T397A |
possibly damaging |
Het |
| Tnpo1 |
C |
A |
13: 99,003,621 (GRCm39) |
R245L |
possibly damaging |
Het |
| Traip |
T |
A |
9: 107,838,785 (GRCm39) |
M183K |
probably damaging |
Het |
| Trpc6 |
A |
T |
9: 8,680,419 (GRCm39) |
E882D |
probably benign |
Het |
| Uba6 |
C |
A |
5: 86,288,219 (GRCm39) |
G491V |
probably damaging |
Het |
| Uqcrfs1 |
A |
T |
13: 30,729,037 (GRCm39) |
V65E |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,668,128 (GRCm39) |
D113G |
probably damaging |
Het |
| Wdr76 |
C |
T |
2: 121,372,976 (GRCm39) |
T503M |
probably damaging |
Het |
| Zfp27 |
T |
C |
7: 29,593,641 (GRCm39) |
T775A |
possibly damaging |
Het |
| Zfp518b |
A |
T |
5: 38,829,395 (GRCm39) |
V870E |
possibly damaging |
Het |
| Zfp932 |
T |
A |
5: 110,155,177 (GRCm39) |
H63Q |
possibly damaging |
Het |
| Zkscan6 |
C |
A |
11: 65,712,817 (GRCm39) |
T250N |
probably damaging |
Het |
| Zmat2 |
A |
T |
18: 36,930,958 (GRCm39) |
K161N |
possibly damaging |
Het |
| Zyg11a |
A |
G |
4: 108,062,420 (GRCm39) |
L127P |
probably damaging |
Het |
|
| Other mutations in Ccdc168 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
D3080:Ccdc168
|
UTSW |
1 |
44,106,495 (GRCm39) |
|
|
|
|
R0045:Ccdc168
|
UTSW |
1 |
44,096,365 (GRCm39) |
missense |
probably benign |
|
|
R0110:Ccdc168
|
UTSW |
1 |
44,098,384 (GRCm39) |
missense |
probably benign |
|
|
R0450:Ccdc168
|
UTSW |
1 |
44,100,257 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0469:Ccdc168
|
UTSW |
1 |
44,100,257 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0510:Ccdc168
|
UTSW |
1 |
44,100,257 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0602:Ccdc168
|
UTSW |
1 |
44,099,127 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0648:Ccdc168
|
UTSW |
1 |
44,095,723 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0928:Ccdc168
|
UTSW |
1 |
44,096,388 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1056:Ccdc168
|
UTSW |
1 |
44,100,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1217:Ccdc168
|
UTSW |
1 |
44,096,339 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1232:Ccdc168
|
UTSW |
1 |
44,095,752 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1399:Ccdc168
|
UTSW |
1 |
44,100,471 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1489:Ccdc168
|
UTSW |
1 |
44,100,667 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1489:Ccdc168
|
UTSW |
1 |
44,096,950 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1519:Ccdc168
|
UTSW |
1 |
44,096,130 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1664:Ccdc168
|
UTSW |
1 |
44,098,387 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1828:Ccdc168
|
UTSW |
1 |
44,096,234 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1944:Ccdc168
|
UTSW |
1 |
44,101,009 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2032:Ccdc168
|
UTSW |
1 |
44,100,900 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2094:Ccdc168
|
UTSW |
1 |
44,098,890 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2170:Ccdc168
|
UTSW |
1 |
44,095,168 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2185:Ccdc168
|
UTSW |
1 |
44,100,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2280:Ccdc168
|
UTSW |
1 |
44,095,620 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2281:Ccdc168
|
UTSW |
1 |
44,095,620 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2339:Ccdc168
|
UTSW |
1 |
44,100,023 (GRCm39) |
missense |
probably benign |
|
|
R3617:Ccdc168
|
UTSW |
1 |
44,100,114 (GRCm39) |
missense |
probably benign |
|
|
R3738:Ccdc168
|
UTSW |
1 |
44,098,026 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4012:Ccdc168
|
UTSW |
1 |
44,100,129 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4034:Ccdc168
|
UTSW |
1 |
44,098,026 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4344:Ccdc168
|
UTSW |
1 |
44,100,151 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4436:Ccdc168
|
UTSW |
1 |
44,095,276 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4485:Ccdc168
|
UTSW |
1 |
44,099,283 (GRCm39) |
missense |
probably benign |
|
|
R4735:Ccdc168
|
UTSW |
1 |
44,100,861 (GRCm39) |
missense |
probably benign |
|
|
R4782:Ccdc168
|
UTSW |
1 |
44,098,203 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4837:Ccdc168
|
UTSW |
1 |
44,100,594 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4862:Ccdc168
|
UTSW |
1 |
44,097,178 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5247:Ccdc168
|
UTSW |
1 |
44,096,166 (GRCm39) |
nonsense |
probably null |
|
|
R5347:Ccdc168
|
UTSW |
1 |
44,096,955 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5355:Ccdc168
|
UTSW |
1 |
44,097,139 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5559:Ccdc168
|
UTSW |
1 |
44,097,675 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5640:Ccdc168
|
UTSW |
1 |
44,101,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5681:Ccdc168
|
UTSW |
1 |
44,100,624 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5776:Ccdc168
|
UTSW |
1 |
44,095,665 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5919:Ccdc168
|
UTSW |
1 |
44,096,146 (GRCm39) |
missense |
probably benign |
|
|
R5987:Ccdc168
|
UTSW |
1 |
44,096,417 (GRCm39) |
missense |
probably benign |
|
|
R6616:Ccdc168
|
UTSW |
1 |
44,100,634 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6677:Ccdc168
|
UTSW |
1 |
44,097,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6830:Ccdc168
|
UTSW |
1 |
44,095,890 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6906:Ccdc168
|
UTSW |
1 |
44,095,173 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6909:Ccdc168
|
UTSW |
1 |
44,098,935 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6957:Ccdc168
|
UTSW |
1 |
44,096,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7008:Ccdc168
|
UTSW |
1 |
44,098,785 (GRCm39) |
missense |
probably benign |
|
|
R7052:Ccdc168
|
UTSW |
1 |
44,096,466 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7176:Ccdc168
|
UTSW |
1 |
44,099,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7190:Ccdc168
|
UTSW |
1 |
44,100,775 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7296:Ccdc168
|
UTSW |
1 |
44,100,076 (GRCm39) |
nonsense |
probably null |
|
|
R7347:Ccdc168
|
UTSW |
1 |
44,098,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7371:Ccdc168
|
UTSW |
1 |
44,100,537 (GRCm39) |
missense |
probably benign |
|
|
R7375:Ccdc168
|
UTSW |
1 |
44,099,694 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7442:Ccdc168
|
UTSW |
1 |
44,097,868 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7450:Ccdc168
|
UTSW |
1 |
44,097,933 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7574:Ccdc168
|
UTSW |
1 |
44,098,593 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7586:Ccdc168
|
UTSW |
1 |
44,099,173 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7739:Ccdc168
|
UTSW |
1 |
44,095,578 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7878:Ccdc168
|
UTSW |
1 |
44,095,174 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7959:Ccdc168
|
UTSW |
1 |
44,096,728 (GRCm39) |
missense |
probably benign |
|
|
R7991:Ccdc168
|
UTSW |
1 |
44,098,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8035:Ccdc168
|
UTSW |
1 |
44,100,711 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8281:Ccdc168
|
UTSW |
1 |
44,095,698 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8523:Ccdc168
|
UTSW |
1 |
44,099,994 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8804:Ccdc168
|
UTSW |
1 |
44,095,809 (GRCm39) |
missense |
probably benign |
|
|
R8869:Ccdc168
|
UTSW |
1 |
44,097,425 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8891:Ccdc168
|
UTSW |
1 |
44,096,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9010:Ccdc168
|
UTSW |
1 |
44,100,633 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9082:Ccdc168
|
UTSW |
1 |
44,099,874 (GRCm39) |
missense |
unknown |
|
|
R9097:Ccdc168
|
UTSW |
1 |
44,098,049 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9157:Ccdc168
|
UTSW |
1 |
44,096,520 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9262:Ccdc168
|
UTSW |
1 |
44,096,269 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9313:Ccdc168
|
UTSW |
1 |
44,096,520 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9419:Ccdc168
|
UTSW |
1 |
44,096,935 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9433:Ccdc168
|
UTSW |
1 |
44,095,668 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9485:Ccdc168
|
UTSW |
1 |
44,095,399 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9573:Ccdc168
|
UTSW |
1 |
44,095,307 (GRCm39) |
nonsense |
probably null |
|
|
R9748:Ccdc168
|
UTSW |
1 |
44,095,824 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
YA93:Ccdc168
|
UTSW |
1 |
44,104,245 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCAGAACCTTCATATTCAGGAC -3'
(R):5'- TGTCCCAGAAGCTCCACAGATC -3'
Sequencing Primer
(F):5'- AAGTGAAATTGGTGAGACCTTTGCC -3'
(R):5'- GCTCCACAGATCAGAACTTCACATG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation