Incidental Mutation 'R1519:Ccdc168'
ID |
167237 |
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 # |
R1519 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44096130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1656
(V1656A)
|
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: V1656A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000127017 Gene: ENSMUSG00000091844 AA Change: V1656A
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: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
C |
G |
10: 100,439,390 (GRCm39) |
P187R |
probably damaging |
Het |
Abhd5 |
T |
C |
9: 122,208,079 (GRCm39) |
|
probably null |
Het |
Acadvl |
A |
G |
11: 69,905,617 (GRCm39) |
|
probably null |
Het |
Actn1 |
T |
C |
12: 80,251,852 (GRCm39) |
E75G |
probably damaging |
Het |
Adam4 |
A |
T |
12: 81,467,651 (GRCm39) |
N323K |
possibly damaging |
Het |
Anks6 |
G |
A |
4: 47,027,152 (GRCm39) |
R689W |
probably damaging |
Het |
Anxa2 |
T |
C |
9: 69,392,523 (GRCm39) |
I124T |
probably damaging |
Het |
Aph1c |
T |
C |
9: 66,740,547 (GRCm39) |
T10A |
probably benign |
Het |
Arhgap40 |
T |
A |
2: 158,388,721 (GRCm39) |
W552R |
probably benign |
Het |
Baz2b |
C |
T |
2: 59,778,598 (GRCm39) |
R754H |
possibly damaging |
Het |
Blmh |
A |
G |
11: 76,857,607 (GRCm39) |
Y147C |
probably damaging |
Het |
C1galt1 |
C |
T |
6: 7,866,402 (GRCm39) |
L83F |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,215,122 (GRCm39) |
Y1403N |
possibly damaging |
Het |
Cic |
A |
T |
7: 24,993,235 (GRCm39) |
|
probably null |
Het |
Coro1b |
T |
A |
19: 4,200,583 (GRCm39) |
V200D |
possibly damaging |
Het |
Csl |
T |
A |
10: 99,593,817 (GRCm39) |
E416V |
probably damaging |
Het |
Cyp3a25 |
A |
G |
5: 145,938,257 (GRCm39) |
|
probably null |
Het |
Dennd2d |
T |
A |
3: 106,399,875 (GRCm39) |
F266Y |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,838,016 (GRCm39) |
E1072G |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,026,031 (GRCm39) |
K3435N |
probably damaging |
Het |
Dnah9 |
G |
A |
11: 65,772,587 (GRCm39) |
A3715V |
probably damaging |
Het |
Fam186a |
G |
A |
15: 99,845,536 (GRCm39) |
S236L |
unknown |
Het |
Frs3 |
A |
G |
17: 48,013,903 (GRCm39) |
T199A |
probably benign |
Het |
Fsd1 |
A |
G |
17: 56,300,870 (GRCm39) |
N243S |
probably benign |
Het |
Gabra5 |
A |
C |
7: 57,058,641 (GRCm39) |
L369R |
probably benign |
Het |
Gask1b |
A |
G |
3: 79,848,771 (GRCm39) |
N506D |
possibly damaging |
Het |
Gins4 |
A |
G |
8: 23,724,792 (GRCm39) |
V54A |
probably benign |
Het |
Gli1 |
T |
C |
10: 127,170,138 (GRCm39) |
E339G |
possibly damaging |
Het |
Gm12185 |
A |
G |
11: 48,798,594 (GRCm39) |
V633A |
probably damaging |
Het |
Gpr83 |
T |
A |
9: 14,779,493 (GRCm39) |
C182S |
probably null |
Het |
Gspt1 |
A |
G |
16: 11,038,719 (GRCm39) |
V627A |
probably damaging |
Het |
Heatr1 |
T |
C |
13: 12,427,040 (GRCm39) |
C722R |
probably benign |
Het |
Jak1 |
C |
T |
4: 101,020,119 (GRCm39) |
R680Q |
probably damaging |
Het |
Kif2c |
A |
G |
4: 117,027,137 (GRCm39) |
V287A |
probably damaging |
Het |
Kmo |
C |
T |
1: 175,479,184 (GRCm39) |
P240L |
possibly damaging |
Het |
Kmo |
A |
G |
1: 175,484,368 (GRCm39) |
E366G |
probably damaging |
Het |
Lepr |
A |
T |
4: 101,646,541 (GRCm39) |
N824I |
probably damaging |
Het |
Lyrm7 |
T |
A |
11: 54,739,425 (GRCm39) |
H75L |
possibly damaging |
Het |
Map4k1 |
A |
T |
7: 28,690,461 (GRCm39) |
Q351L |
probably benign |
Het |
Matcap2 |
T |
G |
9: 22,341,671 (GRCm39) |
L114R |
probably benign |
Het |
Mgam |
T |
C |
6: 40,638,617 (GRCm39) |
I450T |
probably benign |
Het |
Nbeal2 |
A |
G |
9: 110,465,373 (GRCm39) |
L955P |
probably damaging |
Het |
Nlrp9c |
T |
C |
7: 26,077,526 (GRCm39) |
K752R |
possibly damaging |
Het |
Nsmaf |
A |
T |
4: 6,438,062 (GRCm39) |
I70K |
probably benign |
Het |
Or14a257 |
A |
G |
7: 86,138,333 (GRCm39) |
M142T |
probably damaging |
Het |
Or5ac19 |
C |
T |
16: 59,089,307 (GRCm39) |
C241Y |
probably damaging |
Het |
Otud7a |
A |
G |
7: 63,408,391 (GRCm39) |
Y898C |
probably damaging |
Het |
Pcdhb18 |
A |
C |
18: 37,623,945 (GRCm39) |
D425A |
probably damaging |
Het |
Prdm1 |
A |
T |
10: 44,315,982 (GRCm39) |
L733* |
probably null |
Het |
Prdm2 |
A |
T |
4: 142,862,153 (GRCm39) |
I379N |
probably damaging |
Het |
Ptprg |
A |
T |
14: 12,220,596 (GRCm38) |
Y436F |
probably damaging |
Het |
Riok3 |
A |
G |
18: 12,270,363 (GRCm39) |
D167G |
probably damaging |
Het |
Rnf215 |
G |
T |
11: 4,085,451 (GRCm39) |
R60L |
probably damaging |
Het |
Scart1 |
G |
A |
7: 139,808,069 (GRCm39) |
V747I |
probably benign |
Het |
Sdk1 |
A |
T |
5: 141,985,705 (GRCm39) |
H779L |
probably benign |
Het |
Serpine2 |
A |
G |
1: 79,772,748 (GRCm39) |
F390L |
probably damaging |
Het |
Sh3d21 |
T |
A |
4: 126,045,519 (GRCm39) |
K387* |
probably null |
Het |
Slc13a2 |
T |
C |
11: 78,288,572 (GRCm39) |
Y568C |
possibly damaging |
Het |
Slc27a5 |
T |
C |
7: 12,722,386 (GRCm39) |
|
probably null |
Het |
Slc32a1 |
T |
C |
2: 158,456,497 (GRCm39) |
L384P |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,241,025 (GRCm39) |
N454D |
probably benign |
Het |
Spag8 |
T |
C |
4: 43,652,777 (GRCm39) |
Y228C |
possibly damaging |
Het |
Spata31e4 |
G |
A |
13: 50,854,443 (GRCm39) |
|
probably null |
Het |
Spc25 |
T |
C |
2: 69,030,431 (GRCm39) |
I71V |
probably damaging |
Het |
Tcte1 |
T |
A |
17: 45,846,178 (GRCm39) |
F261I |
probably damaging |
Het |
Thsd7a |
T |
A |
6: 12,471,174 (GRCm39) |
K481N |
probably benign |
Het |
Tll2 |
G |
T |
19: 41,074,839 (GRCm39) |
N908K |
probably benign |
Het |
Tmem236 |
T |
C |
2: 14,197,091 (GRCm39) |
V93A |
probably benign |
Het |
Top2b |
G |
A |
14: 16,408,953 (GRCm38) |
|
probably null |
Het |
Topaz1 |
G |
A |
9: 122,596,076 (GRCm39) |
S949N |
probably benign |
Het |
Triobp |
A |
G |
15: 78,857,938 (GRCm39) |
T1180A |
probably benign |
Het |
Trip11 |
A |
C |
12: 101,852,419 (GRCm39) |
D548E |
probably benign |
Het |
Trpv2 |
T |
A |
11: 62,480,652 (GRCm39) |
|
probably null |
Het |
Ulbp3 |
A |
G |
10: 3,075,230 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r12 |
T |
A |
6: 57,136,540 (GRCm39) |
H212Q |
probably damaging |
Het |
Vmn2r112 |
A |
G |
17: 22,837,884 (GRCm39) |
T782A |
possibly damaging |
Het |
Vmn2r7 |
A |
G |
3: 64,623,876 (GRCm39) |
V239A |
possibly damaging |
Het |
Vmn2r80 |
T |
A |
10: 79,030,053 (GRCm39) |
N626K |
probably damaging |
Het |
Vmn2r99 |
A |
G |
17: 19,600,322 (GRCm39) |
S449G |
probably benign |
Het |
Wfikkn2 |
T |
C |
11: 94,128,933 (GRCm39) |
T403A |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,346,023 (GRCm39) |
I2755V |
probably benign |
Het |
Yjefn3 |
A |
G |
8: 70,341,729 (GRCm39) |
V153A |
probably benign |
Het |
Zfp677 |
C |
A |
17: 21,617,499 (GRCm39) |
H185Q |
possibly damaging |
Het |
Zfp947 |
C |
T |
17: 22,365,273 (GRCm39) |
V134I |
probably benign |
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 |
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 |
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'- CTGATAGAAAGGTTGTGCCACAGGG -3'
(R):5'- CTTCCAGGATAAGCAAGGGTTCAGG -3'
Sequencing Primer
(F):5'- CCACAGGGAAGATATGCTGTCTATG -3'
(R):5'- GGGTTCAGGTTCAGTATGTAAAAC -3'
|
Posted On |
2014-04-13 |