Incidental Mutation 'R8804:Ccdc168'
| ID |
671885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| MMRRC Submission |
068641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R8804 (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 C
at 44095809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1763
(N1763S)
|
| 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: N1763S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: N1763S
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
C |
3: 19,682,820 (GRCm39) |
|
probably benign |
Het |
| Adamts1 |
A |
G |
16: 85,599,300 (GRCm39) |
F100S |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,666,800 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
A |
4: 129,899,212 (GRCm39) |
W309R |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,552,652 (GRCm39) |
V617E |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,625,041 (GRCm39) |
E169G |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,389,626 (GRCm39) |
T600A |
probably benign |
Het |
| B4galt3 |
C |
T |
1: 171,103,947 (GRCm39) |
H395Y |
probably benign |
Het |
| BC024139 |
T |
G |
15: 76,008,284 (GRCm39) |
T376P |
possibly damaging |
Het |
| Bin3 |
A |
G |
14: 70,361,296 (GRCm39) |
R22G |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,496,805 (GRCm39) |
I480N |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,652,624 (GRCm39) |
T401A |
probably benign |
Het |
| Cdhr5 |
T |
C |
7: 140,849,320 (GRCm39) |
T747A |
probably benign |
Het |
| Chn2 |
A |
G |
6: 54,250,061 (GRCm39) |
I193V |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,544,898 (GRCm39) |
N363S |
probably benign |
Het |
| Clec7a |
T |
C |
6: 129,442,518 (GRCm39) |
T125A |
probably benign |
Het |
| Cys1 |
A |
T |
12: 24,718,610 (GRCm39) |
L81Q |
unknown |
Het |
| Dcbld2 |
G |
A |
16: 58,281,412 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
T |
A |
8: 62,411,640 (GRCm39) |
D497E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,356,511 (GRCm39) |
I2117V |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,042,756 (GRCm39) |
S3274F |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,842,595 (GRCm39) |
I1225N |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,819,339 (GRCm39) |
T290A |
probably benign |
Het |
| Elmod2 |
T |
A |
8: 84,046,150 (GRCm39) |
K142N |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,324,469 (GRCm39) |
T441A |
probably benign |
Het |
| Fam234a |
A |
G |
17: 26,435,531 (GRCm39) |
|
probably benign |
Het |
| Fer1l4 |
C |
A |
2: 155,893,914 (GRCm39) |
E102D |
probably benign |
Het |
| Fermt3 |
A |
G |
19: 6,991,694 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
C |
T |
6: 91,964,507 (GRCm39) |
R247C |
probably benign |
Het |
| Gm14443 |
G |
A |
2: 175,011,652 (GRCm39) |
H265Y |
probably damaging |
Het |
| Gykl1 |
A |
G |
18: 52,827,608 (GRCm39) |
D272G |
probably benign |
Het |
| Hip1r |
T |
C |
5: 124,139,575 (GRCm39) |
S952P |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,315,393 (GRCm39) |
N3714S |
probably benign |
Het |
| Ighv1-36 |
G |
T |
12: 114,843,581 (GRCm39) |
T93K |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,243,876 (GRCm39) |
T153P |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 64,987,791 (GRCm39) |
C773R |
probably damaging |
Het |
| Lipf |
T |
A |
19: 33,942,198 (GRCm39) |
Y43N |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,093,972 (GRCm39) |
D90G |
probably damaging |
Het |
| Msh5 |
A |
T |
17: 35,251,830 (GRCm39) |
I410K |
probably benign |
Het |
| Mylk3 |
T |
C |
8: 86,085,874 (GRCm39) |
D220G |
probably benign |
Het |
| Ncdn |
G |
A |
4: 126,643,898 (GRCm39) |
A308V |
probably benign |
Het |
| Nfu1 |
T |
A |
6: 86,993,414 (GRCm39) |
|
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,840,635 (GRCm39) |
V991A |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,220,891 (GRCm39) |
H960Q |
probably benign |
Het |
| Parp4 |
G |
T |
14: 56,853,900 (GRCm39) |
E839* |
probably null |
Het |
| Pfas |
T |
C |
11: 68,881,908 (GRCm39) |
N30D |
|
Het |
| Pitpnc1 |
T |
A |
11: 107,103,431 (GRCm39) |
N223Y |
probably damaging |
Het |
| Plaat1 |
T |
A |
16: 29,039,205 (GRCm39) |
V95E |
probably benign |
Het |
| Plod1 |
C |
T |
4: 147,997,778 (GRCm39) |
V644I |
probably damaging |
Het |
| Pou2f1 |
T |
C |
1: 165,708,039 (GRCm39) |
T548A |
unknown |
Het |
| Psg20 |
A |
T |
7: 18,416,584 (GRCm39) |
N177K |
possibly damaging |
Het |
| Psmb8 |
T |
A |
17: 34,419,225 (GRCm39) |
I173N |
probably damaging |
Het |
| Rimkla |
G |
A |
4: 119,325,273 (GRCm39) |
Q379* |
probably null |
Het |
| Rnasel |
G |
T |
1: 153,629,661 (GRCm39) |
G59V |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,303,150 (GRCm39) |
D161V |
probably damaging |
Het |
| Scrt1 |
C |
A |
15: 76,403,411 (GRCm39) |
C193F |
unknown |
Het |
| Sdk2 |
G |
T |
11: 113,763,978 (GRCm39) |
Y269* |
probably null |
Het |
| Sfxn2 |
G |
C |
19: 46,574,243 (GRCm39) |
|
probably benign |
Het |
| Slc17a4 |
G |
T |
13: 24,087,245 (GRCm39) |
T264K |
probably benign |
Het |
| Slfn8 |
T |
A |
11: 82,907,639 (GRCm39) |
Q301H |
possibly damaging |
Het |
| Sntb1 |
G |
A |
15: 55,655,523 (GRCm39) |
S231F |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,874,506 (GRCm39) |
S137T |
probably benign |
Het |
| Srd5a2 |
A |
T |
17: 74,354,629 (GRCm39) |
V65E |
possibly damaging |
Het |
| Stk11ip |
A |
G |
1: 75,511,900 (GRCm39) |
H967R |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,216,920 (GRCm39) |
T320A |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,206,043 (GRCm39) |
S112P |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,294,693 (GRCm39) |
L15P |
probably benign |
Het |
| Tas2r140 |
T |
A |
6: 133,032,326 (GRCm39) |
N144I |
probably damaging |
Het |
| Thpo |
T |
A |
16: 20,544,707 (GRCm39) |
R174S |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,648,202 (GRCm39) |
Q418L |
unknown |
Het |
| Tnr |
A |
T |
1: 159,685,882 (GRCm39) |
Q371L |
probably benign |
Het |
| Tulp2 |
G |
A |
7: 45,170,398 (GRCm39) |
R439Q |
probably damaging |
Het |
| Uchl4 |
G |
T |
9: 64,142,606 (GRCm39) |
W29L |
probably damaging |
Het |
| Vrk3 |
T |
A |
7: 44,407,270 (GRCm39) |
C80* |
probably null |
Het |
| Washc4 |
T |
C |
10: 83,408,015 (GRCm39) |
L540P |
probably damaging |
Het |
| Wscd1 |
T |
C |
11: 71,675,161 (GRCm39) |
F356S |
probably damaging |
Het |
| Wwc1 |
A |
T |
11: 35,774,144 (GRCm39) |
M372K |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,312,191 (GRCm39) |
F168L |
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,393,399 (GRCm39) |
D175G |
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 |
|
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'- CTCCATGTGGTCTTAGTCCAATG -3'
(R):5'- CTGACACGGTAGAATGTCAAGC -3'
Sequencing Primer
(F):5'- CATCACTGAACATTATGGAAGACG -3'
(R):5'- CACGGTAGAATGTCAAGCTCTTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation