Incidental Mutation 'R5347:Ccdc168'
| ID |
422644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| MMRRC Submission |
042926-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5347 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44096955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 1381
(Y1381F)
|
| 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: Y1381F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: Y1381F
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,782,166 (GRCm39) |
Y233C |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,584,814 (GRCm39) |
S169P |
probably damaging |
Het |
| Arid1b |
C |
T |
17: 5,341,332 (GRCm39) |
Q879* |
probably null |
Het |
| Bbs2 |
A |
G |
8: 94,819,178 (GRCm39) |
S64P |
probably damaging |
Het |
| Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,391,313 (GRCm39) |
T447A |
probably benign |
Het |
| Ccdc169 |
A |
T |
3: 55,049,740 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,560,546 (GRCm39) |
S275P |
possibly damaging |
Het |
| Cdh15 |
A |
G |
8: 123,588,802 (GRCm39) |
N292S |
probably null |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,430,301 (GRCm39) |
H473R |
probably benign |
Het |
| Cplx4 |
G |
A |
18: 66,103,157 (GRCm39) |
|
probably benign |
Het |
| Crb1 |
C |
T |
1: 139,265,109 (GRCm39) |
G103E |
probably damaging |
Het |
| Dnaja3 |
T |
A |
16: 4,512,346 (GRCm39) |
V250E |
possibly damaging |
Het |
| Dync2h1 |
T |
G |
9: 7,129,727 (GRCm39) |
Q1757P |
probably damaging |
Het |
| Edem3 |
A |
G |
1: 151,683,202 (GRCm39) |
Q626R |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,716,862 (GRCm39) |
|
probably benign |
Het |
| Esf1 |
T |
A |
2: 139,996,801 (GRCm39) |
K521* |
probably null |
Het |
| Fbxl3 |
A |
C |
14: 103,320,730 (GRCm39) |
V239G |
probably damaging |
Het |
| Fhip2a |
A |
G |
19: 57,367,051 (GRCm39) |
D198G |
probably benign |
Het |
| Fto |
A |
G |
8: 92,118,107 (GRCm39) |
|
probably benign |
Het |
| Gm5773 |
T |
C |
3: 93,681,090 (GRCm39) |
L254P |
probably damaging |
Het |
| Gm5916 |
A |
T |
9: 36,032,012 (GRCm39) |
W91R |
probably benign |
Het |
| Gpam |
A |
T |
19: 55,077,269 (GRCm39) |
L174H |
probably damaging |
Het |
| Grk1 |
G |
A |
8: 13,464,478 (GRCm39) |
R450Q |
probably damaging |
Het |
| Hc |
G |
A |
2: 34,927,636 (GRCm39) |
A326V |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,442,511 (GRCm39) |
I1317T |
probably benign |
Het |
| Hlcs |
A |
G |
16: 94,068,383 (GRCm39) |
V426A |
possibly damaging |
Het |
| Ighv1-23 |
T |
C |
12: 114,728,376 (GRCm39) |
|
probably benign |
Het |
| Itgax |
G |
A |
7: 127,740,474 (GRCm39) |
V754I |
probably benign |
Het |
| Krt24 |
T |
A |
11: 99,173,556 (GRCm39) |
D255V |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,403,935 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
G |
T |
18: 77,454,237 (GRCm39) |
R478L |
probably damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,789,537 (GRCm39) |
Q518R |
probably benign |
Het |
| Mbl1 |
A |
T |
14: 40,880,786 (GRCm39) |
I225F |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,277,651 (GRCm39) |
S392G |
probably benign |
Het |
| Mug2 |
T |
G |
6: 122,058,551 (GRCm39) |
F1318V |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,202,487 (GRCm39) |
N1447S |
probably null |
Het |
| Nbea |
A |
C |
3: 55,948,297 (GRCm39) |
V543G |
probably damaging |
Het |
| Necap1 |
A |
G |
6: 122,857,706 (GRCm39) |
I96V |
probably benign |
Het |
| Nr3c2 |
T |
A |
8: 77,937,377 (GRCm39) |
M872K |
possibly damaging |
Het |
| Nrf1 |
C |
T |
6: 30,118,967 (GRCm39) |
T362M |
probably benign |
Het |
| Or14j2 |
T |
C |
17: 37,885,618 (GRCm39) |
E232G |
probably damaging |
Het |
| Pcare |
A |
G |
17: 72,056,930 (GRCm39) |
S916P |
probably benign |
Het |
| Plekhm3 |
T |
C |
1: 64,859,149 (GRCm39) |
E685G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sbk3 |
A |
T |
7: 4,970,422 (GRCm39) |
S316T |
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,441,767 (GRCm39) |
L233P |
probably damaging |
Het |
| Set |
T |
A |
2: 29,959,422 (GRCm39) |
S132T |
possibly damaging |
Het |
| Slc17a4 |
C |
T |
13: 24,092,800 (GRCm39) |
E11K |
possibly damaging |
Het |
| Slc22a6 |
T |
A |
19: 8,595,917 (GRCm39) |
N86K |
possibly damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,032,325 (GRCm39) |
L600P |
probably damaging |
Het |
| Sp8 |
A |
G |
12: 118,812,246 (GRCm39) |
K34E |
possibly damaging |
Het |
| Spen |
T |
A |
4: 141,198,796 (GRCm39) |
E3254V |
probably benign |
Het |
| Tcf12 |
G |
A |
9: 71,792,525 (GRCm39) |
P53S |
probably damaging |
Het |
| Tcf3 |
A |
G |
10: 80,246,045 (GRCm39) |
V626A |
probably damaging |
Het |
| Trpc4ap |
A |
G |
2: 155,514,908 (GRCm39) |
|
probably null |
Het |
| Ttc3 |
T |
A |
16: 94,230,479 (GRCm39) |
V892D |
probably damaging |
Het |
| Tub |
G |
T |
7: 108,625,978 (GRCm39) |
R243L |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,473,433 (GRCm39) |
Y837C |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 192,810,687 (GRCm39) |
D105E |
probably benign |
Het |
| Wdhd1 |
A |
T |
14: 47,506,181 (GRCm39) |
Y244* |
probably null |
Het |
| Xdh |
T |
A |
17: 74,232,027 (GRCm39) |
T228S |
probably benign |
Het |
| Zfp418 |
A |
C |
7: 7,185,534 (GRCm39) |
Q499P |
probably benign |
Het |
| Zfpm1 |
G |
A |
8: 123,062,269 (GRCm39) |
E443K |
possibly damaging |
Het |
| Zfy1 |
T |
C |
Y: 725,950 (GRCm39) |
H605R |
possibly 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 |
|
|
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 |
|
R9511:Ccdc168
|
UTSW |
1 |
44,098,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGGTTCTGTCAAGGCCTTC -3'
(R):5'- TACAAGCCTACAAGCCTGGTG -3'
Sequencing Primer
(F):5'- AAGGCCTTCCTATTGCTACTTGAAAC -3'
(R):5'- CCTTTGCCAGAGACTTCAGAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation