Incidental Mutation 'R9748:Ccdc168'
ID |
732280 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc168
|
Ensembl Gene |
ENSMUSG00000091844 |
Gene Name |
coiled-coil domain containing 168 |
Synonyms |
Gm8251 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R9748 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 44095824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Tyrosine
at position 1758
(S1758Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127017
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168641]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168641
AA Change: S1758Y
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127017 Gene: ENSMUSG00000091844 AA Change: S1758Y
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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
T |
C |
8: 25,301,068 (GRCm39) |
T221A |
probably benign |
Het |
Adamts12 |
G |
A |
15: 11,310,628 (GRCm39) |
V962I |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,488,640 (GRCm39) |
I931F |
probably damaging |
Het |
Anxa2r2 |
T |
A |
13: 120,488,200 (GRCm39) |
E116D |
possibly damaging |
Het |
Arih1 |
T |
G |
9: 59,300,581 (GRCm39) |
D555A |
possibly damaging |
Het |
Arsg |
A |
G |
11: 109,381,452 (GRCm39) |
D65G |
probably damaging |
Het |
Atp8b3 |
G |
A |
10: 80,364,407 (GRCm39) |
T567I |
probably damaging |
Het |
Camkk2 |
G |
C |
5: 122,872,182 (GRCm39) |
R575G |
probably benign |
Het |
Ccdc88b |
G |
T |
19: 6,831,461 (GRCm39) |
L494M |
probably damaging |
Het |
Cdc7 |
A |
G |
5: 107,123,405 (GRCm39) |
K317E |
possibly damaging |
Het |
Cfh |
A |
G |
1: 140,090,687 (GRCm39) |
|
probably null |
Het |
Cp |
T |
G |
3: 20,043,335 (GRCm39) |
V1041G |
possibly damaging |
Het |
Cpeb3 |
A |
G |
19: 37,151,926 (GRCm39) |
V150A |
probably benign |
Het |
Cyp7a1 |
T |
A |
4: 6,269,216 (GRCm39) |
E352V |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,976,290 (GRCm39) |
H1253L |
possibly damaging |
Het |
Dsg3 |
T |
C |
18: 20,672,761 (GRCm39) |
S811P |
possibly damaging |
Het |
Efcab5 |
A |
T |
11: 77,007,022 (GRCm39) |
Y867* |
probably null |
Het |
Eif2ak1 |
A |
G |
5: 143,819,031 (GRCm39) |
T231A |
probably damaging |
Het |
Eif2ak4 |
T |
A |
2: 118,247,730 (GRCm39) |
C256S |
probably benign |
Het |
Eif5b |
A |
G |
1: 38,090,241 (GRCm39) |
N1140S |
possibly damaging |
Het |
Etnppl |
A |
T |
3: 130,414,002 (GRCm39) |
M34L |
probably benign |
Het |
Fcrl5 |
T |
G |
3: 87,364,469 (GRCm39) |
C549W |
possibly damaging |
Het |
Fhod1 |
G |
A |
8: 106,058,323 (GRCm39) |
A811V |
probably damaging |
Het |
Flcn |
C |
T |
11: 59,692,980 (GRCm39) |
S198N |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,991,929 (GRCm39) |
H589L |
unknown |
Het |
Gm8108 |
G |
T |
14: 4,110,527 (GRCm38) |
|
probably benign |
Het |
Hcn4 |
C |
T |
9: 58,730,996 (GRCm39) |
R68W |
unknown |
Het |
Igfn1 |
A |
G |
1: 135,926,336 (GRCm39) |
L38P |
possibly damaging |
Het |
Il1r1 |
A |
G |
1: 40,349,496 (GRCm39) |
T351A |
probably benign |
Het |
Ildr2 |
T |
C |
1: 166,096,889 (GRCm39) |
L36P |
probably damaging |
Het |
Itgb1bp1 |
C |
T |
12: 21,324,876 (GRCm39) |
C60Y |
probably damaging |
Het |
Jrk |
A |
G |
15: 74,579,225 (GRCm39) |
L20P |
probably damaging |
Het |
Kif5c |
C |
T |
2: 49,584,859 (GRCm39) |
A194V |
probably damaging |
Het |
Lrp4 |
C |
T |
2: 91,316,116 (GRCm39) |
L745F |
probably damaging |
Het |
Ly9 |
A |
T |
1: 171,428,722 (GRCm39) |
D299E |
possibly damaging |
Het |
Mfsd1 |
C |
T |
3: 67,499,910 (GRCm39) |
T185I |
possibly damaging |
Het |
Mprip |
A |
G |
11: 59,656,348 (GRCm39) |
Y808C |
probably damaging |
Het |
Mrps2 |
C |
A |
2: 28,359,594 (GRCm39) |
H150Q |
possibly damaging |
Het |
Mtcl3 |
A |
T |
10: 29,024,398 (GRCm39) |
D438V |
probably damaging |
Het |
Mturn |
A |
T |
6: 54,665,989 (GRCm39) |
|
probably null |
Het |
Myo5a |
T |
C |
9: 75,091,965 (GRCm39) |
S1205P |
probably damaging |
Het |
Nckap5 |
G |
A |
1: 125,953,939 (GRCm39) |
P871L |
probably damaging |
Het |
Ndst3 |
T |
A |
3: 123,421,631 (GRCm39) |
I401F |
probably benign |
Het |
Nek4 |
G |
A |
14: 30,709,114 (GRCm39) |
V723M |
possibly damaging |
Het |
Nfe2l2 |
A |
G |
2: 75,506,667 (GRCm39) |
S478P |
probably damaging |
Het |
Nol6 |
T |
C |
4: 41,123,538 (GRCm39) |
Y70C |
probably damaging |
Het |
Nup88 |
T |
C |
11: 70,860,497 (GRCm39) |
E94G |
probably benign |
Het |
Oas1h |
A |
T |
5: 121,005,088 (GRCm39) |
N179Y |
probably damaging |
Het |
Or1o11 |
T |
G |
17: 37,756,595 (GRCm39) |
V61G |
probably benign |
Het |
Or8b39 |
T |
A |
9: 37,996,353 (GRCm39) |
S74T |
probably benign |
Het |
Otof |
T |
C |
5: 30,540,998 (GRCm39) |
D847G |
probably damaging |
Het |
Pak1 |
C |
A |
7: 97,547,842 (GRCm39) |
D331E |
possibly damaging |
Het |
Pkd1l3 |
T |
C |
8: 110,373,555 (GRCm39) |
W1374R |
probably benign |
Het |
Pkdrej |
G |
T |
15: 85,704,871 (GRCm39) |
T355K |
possibly damaging |
Het |
Pramel27 |
A |
G |
4: 143,579,892 (GRCm39) |
*492W |
probably null |
Het |
Prkcd |
A |
T |
14: 30,320,800 (GRCm39) |
F607I |
possibly damaging |
Het |
Prrc2c |
A |
G |
1: 162,535,435 (GRCm39) |
S775P |
unknown |
Het |
Prss16 |
G |
T |
13: 22,192,504 (GRCm39) |
H154N |
possibly damaging |
Het |
Psme2b |
T |
C |
11: 48,836,779 (GRCm39) |
D56G |
possibly damaging |
Het |
Rapsn |
C |
T |
2: 90,875,823 (GRCm39) |
P400L |
probably damaging |
Het |
Rptn |
A |
G |
3: 93,304,761 (GRCm39) |
D698G |
possibly damaging |
Het |
Rragc |
T |
C |
4: 123,818,658 (GRCm39) |
V291A |
possibly damaging |
Het |
Rras2 |
A |
G |
7: 113,716,629 (GRCm39) |
|
probably null |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Scyl2 |
A |
C |
10: 89,476,794 (GRCm39) |
M777R |
probably benign |
Het |
Serhl |
G |
T |
15: 82,998,597 (GRCm39) |
V235L |
probably benign |
Het |
Sh2b3 |
T |
C |
5: 121,955,874 (GRCm39) |
Y536C |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,257,093 (GRCm39) |
M570V |
probably benign |
Het |
Slamf8 |
C |
T |
1: 172,411,800 (GRCm39) |
V232M |
probably benign |
Het |
Slc6a21 |
T |
A |
7: 44,929,941 (GRCm39) |
L143Q |
probably damaging |
Het |
Snx9 |
T |
A |
17: 5,949,670 (GRCm39) |
D123E |
probably benign |
Het |
Spopfm2 |
G |
A |
3: 94,083,155 (GRCm39) |
H219Y |
probably damaging |
Het |
Supt6 |
C |
A |
11: 78,108,767 (GRCm39) |
R1178L |
probably damaging |
Het |
Sycp2 |
T |
G |
2: 178,025,304 (GRCm39) |
E379D |
probably damaging |
Het |
Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
Tg |
A |
G |
15: 66,719,008 (GRCm39) |
M2655V |
possibly damaging |
Het |
Tiam2 |
C |
T |
17: 3,561,440 (GRCm39) |
T1335I |
probably benign |
Het |
Tmem154 |
T |
A |
3: 84,573,693 (GRCm39) |
L12Q |
possibly damaging |
Het |
Trpv3 |
A |
T |
11: 73,174,499 (GRCm39) |
I289F |
possibly damaging |
Het |
Tubgcp3 |
A |
G |
8: 12,699,758 (GRCm39) |
L365P |
probably damaging |
Het |
Tulp4 |
T |
C |
17: 6,291,480 (GRCm39) |
|
probably null |
Het |
Tyr |
A |
G |
7: 87,142,072 (GRCm39) |
S163P |
possibly damaging |
Het |
Usp42 |
A |
T |
5: 143,713,533 (GRCm39) |
|
probably null |
Het |
Vmn2r94 |
A |
G |
17: 18,463,989 (GRCm39) |
M767T |
probably benign |
Het |
Wasl |
A |
G |
6: 24,619,533 (GRCm39) |
V329A |
unknown |
Het |
Wdr62 |
T |
A |
7: 29,953,466 (GRCm39) |
M635L |
possibly damaging |
Het |
Wee1 |
G |
T |
7: 109,721,722 (GRCm39) |
E56* |
probably null |
Het |
Zc3h12c |
C |
T |
9: 52,055,231 (GRCm39) |
G193S |
probably damaging |
Het |
Zfp236 |
T |
A |
18: 82,637,008 (GRCm39) |
Q1426L |
possibly damaging |
Het |
Zfp74 |
T |
C |
7: 29,634,751 (GRCm39) |
Y319C |
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 |
R9511:Ccdc168
|
UTSW |
1 |
44,098,854 (GRCm39) |
missense |
probably benign |
0.00 |
R9573:Ccdc168
|
UTSW |
1 |
44,095,307 (GRCm39) |
nonsense |
probably null |
|
YA93:Ccdc168
|
UTSW |
1 |
44,104,245 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCATGTGGTCTTAGTCCAATGC -3'
(R):5'- ACTGACACGGTAGAATGTCAAG -3'
Sequencing Primer
(F):5'- CATCACTGAACATTATGGAAGACG -3'
(R):5'- CACGGTAGAATGTCAAGCTCTTG -3'
|
Posted On |
2022-11-14 |