Incidental Mutation 'R7296:Ccdc168'
ID |
571587 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc168
|
Ensembl Gene |
ENSMUSG00000091844 |
Gene Name |
coiled-coil domain containing 168 |
Synonyms |
Gm8251 |
MMRRC Submission |
045400-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R7296 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 44100076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 341
(K341*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127017
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168641]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000168641
AA Change: K341*
|
SMART Domains |
Protein: ENSMUSP00000127017 Gene: ENSMUSG00000091844 AA Change: K341*
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: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
98% (85/87) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700066M21Rik |
T |
A |
1: 57,422,302 (GRCm39) |
M226K |
probably benign |
Het |
4921524L21Rik |
T |
G |
18: 6,626,385 (GRCm39) |
S132R |
probably damaging |
Het |
A4gnt |
T |
G |
9: 99,502,335 (GRCm39) |
I165S |
probably damaging |
Het |
Abca14 |
G |
A |
7: 119,877,534 (GRCm39) |
D1061N |
probably benign |
Het |
Abcc9 |
G |
A |
6: 142,617,319 (GRCm39) |
P582S |
probably damaging |
Het |
Abhd5 |
G |
A |
9: 122,208,638 (GRCm39) |
V343I |
probably benign |
Het |
Adam6a |
C |
T |
12: 113,509,192 (GRCm39) |
R522C |
probably damaging |
Het |
Ankle2 |
G |
A |
5: 110,385,590 (GRCm39) |
R313H |
probably damaging |
Het |
Aplf |
G |
A |
6: 87,623,197 (GRCm39) |
T315I |
probably damaging |
Het |
Asic5 |
C |
T |
3: 81,928,383 (GRCm39) |
P491S |
probably benign |
Het |
Atp5f1b |
T |
C |
10: 127,921,391 (GRCm39) |
Y230H |
probably benign |
Het |
B4galt6 |
A |
T |
18: 20,861,099 (GRCm39) |
I51N |
probably damaging |
Het |
Bmal2 |
G |
A |
6: 146,723,632 (GRCm39) |
V321I |
not run |
Het |
C4b |
A |
G |
17: 34,962,633 (GRCm39) |
L23S |
probably damaging |
Het |
Cables2 |
A |
G |
2: 179,902,129 (GRCm39) |
V410A |
|
Het |
Cdyl |
A |
G |
13: 36,047,378 (GRCm39) |
M489V |
probably damaging |
Het |
Clip4 |
T |
C |
17: 72,096,996 (GRCm39) |
M40T |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,589,348 (GRCm39) |
Y1069C |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,755,708 (GRCm39) |
M194V |
probably benign |
Het |
Colec11 |
T |
A |
12: 28,644,714 (GRCm39) |
D260V |
probably damaging |
Het |
Cracdl |
T |
C |
1: 37,653,699 (GRCm39) |
T1036A |
possibly damaging |
Het |
Cux2 |
T |
C |
5: 121,999,319 (GRCm39) |
D1207G |
probably benign |
Het |
Cyp2d34 |
G |
T |
15: 82,501,436 (GRCm39) |
N297K |
possibly damaging |
Het |
Dmbt1 |
A |
G |
7: 130,713,861 (GRCm39) |
Y1643C |
unknown |
Het |
Dnmt3c |
A |
G |
2: 153,556,946 (GRCm39) |
T288A |
probably benign |
Het |
Dock8 |
T |
A |
19: 25,162,245 (GRCm39) |
F1842I |
probably benign |
Het |
Dysf |
A |
G |
6: 84,083,880 (GRCm39) |
I740V |
probably benign |
Het |
Epha6 |
T |
A |
16: 59,736,201 (GRCm39) |
M778L |
probably benign |
Het |
Eri2 |
A |
T |
7: 119,385,739 (GRCm39) |
L254* |
probably null |
Het |
Fam43b |
A |
G |
4: 138,123,152 (GRCm39) |
F56S |
probably damaging |
Het |
Fat4 |
C |
A |
3: 38,943,294 (GRCm39) |
S729* |
probably null |
Het |
Fbxw22 |
C |
A |
9: 109,211,143 (GRCm39) |
W386L |
probably benign |
Het |
Fgd6 |
T |
A |
10: 93,879,909 (GRCm39) |
C254* |
probably null |
Het |
Fgd6 |
C |
A |
10: 93,975,743 (GRCm39) |
T1386K |
probably benign |
Het |
Fkbp7 |
G |
T |
2: 76,502,108 (GRCm39) |
D98E |
possibly damaging |
Het |
Hectd1 |
C |
T |
12: 51,832,635 (GRCm39) |
C913Y |
possibly damaging |
Het |
Hgf |
T |
A |
5: 16,769,841 (GRCm39) |
M105K |
probably benign |
Het |
Icam1 |
A |
C |
9: 20,930,311 (GRCm39) |
D55A |
probably benign |
Het |
Itga2 |
A |
C |
13: 114,993,930 (GRCm39) |
|
probably null |
Het |
Kcnj5 |
A |
C |
9: 32,234,045 (GRCm39) |
L90R |
probably damaging |
Het |
Klra17 |
T |
A |
6: 129,808,555 (GRCm39) |
N226I |
possibly damaging |
Het |
Krt1 |
T |
A |
15: 101,759,064 (GRCm39) |
R33S |
unknown |
Het |
L3mbtl3 |
T |
A |
10: 26,158,728 (GRCm39) |
D615V |
unknown |
Het |
Lrp2 |
T |
A |
2: 69,312,725 (GRCm39) |
Y2521F |
probably benign |
Het |
Megf10 |
A |
T |
18: 57,408,825 (GRCm39) |
N589I |
probably damaging |
Het |
Metap1d |
G |
C |
2: 71,337,129 (GRCm39) |
G14A |
probably benign |
Het |
Mfap5 |
T |
A |
6: 122,505,381 (GRCm39) |
D162E |
probably benign |
Het |
Mixl1 |
T |
C |
1: 180,524,523 (GRCm39) |
I19V |
probably benign |
Het |
Mtrr |
G |
T |
13: 68,716,979 (GRCm39) |
Y411* |
probably null |
Het |
Myh7 |
T |
C |
14: 55,227,482 (GRCm39) |
T318A |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,349,383 (GRCm39) |
Y2348* |
probably null |
Het |
Nhsl3 |
A |
G |
4: 129,119,211 (GRCm39) |
Y170H |
probably damaging |
Het |
Niban2 |
T |
C |
2: 32,812,654 (GRCm39) |
S468P |
possibly damaging |
Het |
Nlrc3 |
T |
C |
16: 3,781,454 (GRCm39) |
S668G |
probably damaging |
Het |
Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
Or10ag59 |
T |
A |
2: 87,406,052 (GRCm39) |
V208E |
probably damaging |
Het |
Or12j2 |
A |
T |
7: 139,916,654 (GRCm39) |
D293V |
possibly damaging |
Het |
Or4c117 |
C |
A |
2: 88,955,180 (GRCm39) |
R298S |
probably benign |
Het |
Pcna |
A |
G |
2: 132,094,797 (GRCm39) |
S54P |
probably benign |
Het |
Pde6a |
A |
G |
18: 61,391,364 (GRCm39) |
T570A |
probably damaging |
Het |
Phf21b |
A |
T |
15: 84,739,918 (GRCm39) |
M1K |
probably null |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Prob1 |
A |
G |
18: 35,786,352 (GRCm39) |
F634S |
possibly damaging |
Het |
Prss50 |
A |
G |
9: 110,690,357 (GRCm39) |
T167A |
probably damaging |
Het |
Ptpn1 |
T |
C |
2: 167,816,692 (GRCm39) |
V249A |
probably damaging |
Het |
Rai1 |
G |
A |
11: 60,079,499 (GRCm39) |
V1188I |
probably benign |
Het |
Ric1 |
G |
A |
19: 29,561,978 (GRCm39) |
|
probably null |
Het |
Robo1 |
C |
T |
16: 72,786,519 (GRCm39) |
Q844* |
probably null |
Het |
Rpn1 |
A |
G |
6: 88,061,619 (GRCm39) |
D36G |
possibly damaging |
Het |
Serpinb1b |
A |
T |
13: 33,277,810 (GRCm39) |
M348L |
probably benign |
Het |
Setd4 |
T |
C |
16: 93,380,830 (GRCm39) |
|
probably null |
Het |
Setd5 |
T |
G |
6: 113,124,518 (GRCm39) |
S1124A |
probably benign |
Het |
Slc35c1 |
C |
A |
2: 92,289,084 (GRCm39) |
V154F |
probably damaging |
Het |
Slc7a6os |
G |
T |
8: 106,937,121 (GRCm39) |
S113* |
probably null |
Het |
Syne2 |
T |
A |
12: 76,149,810 (GRCm39) |
D1787E |
probably benign |
Het |
Tas2r144 |
A |
C |
6: 42,192,373 (GRCm39) |
I38L |
probably damaging |
Het |
Tepsin |
G |
T |
11: 119,982,534 (GRCm39) |
T512K |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,606,586 (GRCm39) |
V1662A |
probably benign |
Het |
Vmn1r201 |
C |
T |
13: 22,659,509 (GRCm39) |
A241V |
possibly damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,785,826 (GRCm39) |
S210T |
probably benign |
Het |
Wdr6 |
G |
T |
9: 108,451,784 (GRCm39) |
H700N |
probably damaging |
Het |
Zdhhc8 |
T |
C |
16: 18,052,790 (GRCm39) |
T29A |
probably benign |
Het |
Zfp335 |
A |
G |
2: 164,742,052 (GRCm39) |
I614T |
probably damaging |
Het |
Zfp54 |
T |
A |
17: 21,653,844 (GRCm39) |
S113T |
probably benign |
Het |
Zfp873 |
T |
A |
10: 81,897,071 (GRCm39) |
C601S |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,325,146 (GRCm39) |
|
probably null |
Het |
Zmynd8 |
T |
C |
2: 165,681,929 (GRCm39) |
T201A |
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 |
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'- ACTATCCTTGCCAGATCTGAAAG -3'
(R):5'- AGTCTCAGCGAGCACAGTAC -3'
Sequencing Primer
(F):5'- CAGATCTGAAAGTTTTTCTCCCTGGG -3'
(R):5'- AGGAAGACTCCCCATGGG -3'
|
Posted On |
2019-09-13 |