Incidental Mutation 'R8523:Ccdc168'
| ID |
658620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| MMRRC Submission |
067948-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R8523 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44099994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 368
(I368K)
|
| 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: I368K
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: I368K
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Ammecr1l |
T |
C |
18: 31,905,152 (GRCm39) |
F131S |
probably damaging |
Het |
| Apbb1ip |
A |
C |
2: 22,709,648 (GRCm39) |
D35A |
unknown |
Het |
| Arhgap12 |
A |
T |
18: 6,111,976 (GRCm39) |
D129E |
probably benign |
Het |
| Arpc1b |
A |
G |
5: 145,061,492 (GRCm39) |
D163G |
probably damaging |
Het |
| Atxn7l1 |
A |
T |
12: 33,396,023 (GRCm39) |
T251S |
probably benign |
Het |
| Best1 |
T |
C |
19: 9,969,027 (GRCm39) |
I230V |
possibly damaging |
Het |
| Brca2 |
A |
G |
5: 150,483,613 (GRCm39) |
T2888A |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,215,450 (GRCm39) |
V87A |
probably damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,869,560 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,284,523 (GRCm39) |
C548* |
probably null |
Het |
| Col18a1 |
A |
G |
10: 76,890,068 (GRCm39) |
S1678P |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,651,987 (GRCm39) |
N1008S |
possibly damaging |
Het |
| Defb41 |
A |
T |
1: 18,321,519 (GRCm39) |
C32S |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,072,171 (GRCm39) |
N2437S |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,834,408 (GRCm39) |
Y171H |
unknown |
Het |
| Ehd1 |
T |
C |
19: 6,344,613 (GRCm39) |
L291P |
probably damaging |
Het |
| Eif3c |
A |
T |
7: 126,147,069 (GRCm39) |
H734Q |
possibly damaging |
Het |
| Erich5 |
A |
T |
15: 34,471,502 (GRCm39) |
T244S |
probably benign |
Het |
| Fam186b |
T |
A |
15: 99,177,613 (GRCm39) |
H571L |
probably benign |
Het |
| Fer1l5 |
A |
G |
1: 36,426,271 (GRCm39) |
K360E |
probably benign |
Het |
| Fga |
A |
T |
3: 82,938,158 (GRCm39) |
I178F |
probably damaging |
Het |
| Gale |
A |
T |
4: 135,694,987 (GRCm39) |
T320S |
probably benign |
Het |
| Gm11232 |
A |
T |
4: 71,675,465 (GRCm39) |
S99T |
probably benign |
Het |
| Gpr137 |
C |
T |
19: 6,917,803 (GRCm39) |
W94* |
probably null |
Het |
| Grm7 |
T |
A |
6: 111,223,280 (GRCm39) |
M440K |
possibly damaging |
Het |
| Hacd4 |
A |
G |
4: 88,353,286 (GRCm39) |
F69L |
probably damaging |
Het |
| Hdac7 |
T |
A |
15: 97,706,251 (GRCm39) |
H304L |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,358,224 (GRCm39) |
I2435N |
probably benign |
Het |
| Itgb7 |
G |
A |
15: 102,124,957 (GRCm39) |
R755W |
probably damaging |
Het |
| Kdm3b |
G |
T |
18: 34,926,129 (GRCm39) |
A90S |
probably benign |
Het |
| Mcmdc2 |
G |
A |
1: 9,981,946 (GRCm39) |
M1I |
probably null |
Het |
| Mitd1 |
A |
G |
1: 37,918,639 (GRCm39) |
|
probably null |
Het |
| Myh10 |
A |
T |
11: 68,688,235 (GRCm39) |
Q1232L |
probably benign |
Het |
| Myo1a |
C |
A |
10: 127,547,027 (GRCm39) |
N362K |
probably damaging |
Het |
| N4bp1 |
G |
A |
8: 87,579,789 (GRCm39) |
T671I |
probably damaging |
Het |
| Nav3 |
A |
T |
10: 109,659,138 (GRCm39) |
D826E |
probably damaging |
Het |
| Negr1 |
C |
T |
3: 156,866,297 (GRCm39) |
T282M |
probably damaging |
Het |
| Notch1 |
G |
A |
2: 26,354,917 (GRCm39) |
H1837Y |
possibly damaging |
Het |
| Or2m12 |
A |
T |
16: 19,104,851 (GRCm39) |
V214E |
probably benign |
Het |
| Or52e19b |
A |
T |
7: 103,032,413 (GRCm39) |
F265L |
probably benign |
Het |
| Or5m13 |
T |
A |
2: 85,748,407 (GRCm39) |
I46N |
probably damaging |
Het |
| Or7e177 |
A |
G |
9: 20,212,093 (GRCm39) |
N200S |
probably benign |
Het |
| Pard6a |
T |
C |
8: 106,428,881 (GRCm39) |
C47R |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,057,247 (GRCm39) |
|
probably null |
Het |
| Pck1 |
C |
A |
2: 172,999,064 (GRCm39) |
A410D |
probably damaging |
Het |
| Pdzph1 |
G |
A |
17: 59,191,008 (GRCm39) |
L85F |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,279,873 (GRCm39) |
S1P |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,140,025 (GRCm39) |
V615D |
probably damaging |
Het |
| Plekha7 |
T |
G |
7: 115,907,164 (GRCm39) |
I23L |
probably benign |
Het |
| Prkcz |
T |
G |
4: 155,346,968 (GRCm39) |
D388A |
probably damaging |
Het |
| Rab36 |
A |
G |
10: 74,888,335 (GRCm39) |
R260G |
probably benign |
Het |
| Reln |
C |
A |
5: 22,209,229 (GRCm39) |
R1116S |
probably damaging |
Het |
| Rskr |
A |
T |
11: 78,184,210 (GRCm39) |
M225L |
probably benign |
Het |
| Rundc3b |
T |
G |
5: 8,619,505 (GRCm39) |
K151Q |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,316,988 (GRCm39) |
S859P |
probably damaging |
Het |
| Slc25a32 |
C |
T |
15: 38,963,281 (GRCm39) |
R180H |
probably benign |
Het |
| Slc4a9 |
G |
A |
18: 36,665,196 (GRCm39) |
G443E |
possibly damaging |
Het |
| Slmap |
T |
A |
14: 26,150,965 (GRCm39) |
K534N |
probably damaging |
Het |
| Sncaip |
G |
A |
18: 52,971,088 (GRCm39) |
A3T |
probably damaging |
Het |
| Spata31d1c |
G |
T |
13: 65,180,991 (GRCm39) |
S30I |
probably damaging |
Het |
| Srrm1 |
A |
T |
4: 135,051,313 (GRCm39) |
V789E |
unknown |
Het |
| Srrm2 |
A |
T |
17: 24,027,489 (GRCm39) |
|
probably benign |
Het |
| St7l |
T |
C |
3: 104,775,373 (GRCm39) |
F83S |
probably damaging |
Het |
| Taf15 |
C |
T |
11: 83,375,678 (GRCm39) |
Q48* |
probably null |
Het |
| Tek |
A |
T |
4: 94,687,403 (GRCm39) |
D172V |
probably benign |
Het |
| Tmem232 |
T |
C |
17: 65,785,366 (GRCm39) |
Y198C |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,398,779 (GRCm39) |
V1191E |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,067,088 (GRCm39) |
D1710G |
probably damaging |
Het |
| Trav16d-dv11 |
T |
C |
14: 53,285,122 (GRCm39) |
I66T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,289 (GRCm39) |
T24535S |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,730,087 (GRCm39) |
L911* |
probably null |
Het |
| Ube4a |
A |
G |
9: 44,861,130 (GRCm39) |
S227P |
probably damaging |
Het |
| Ubqln1 |
T |
C |
13: 58,339,569 (GRCm39) |
T352A |
probably benign |
Het |
| Vmn1r174 |
C |
T |
7: 23,454,182 (GRCm39) |
P283S |
probably damaging |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,053 (GRCm39) |
T236A |
probably damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,182,311 (GRCm39) |
I463V |
probably benign |
Het |
| Wdr95 |
A |
G |
5: 149,497,461 (GRCm39) |
D213G |
probably damaging |
Het |
| Zbtb49 |
T |
A |
5: 38,370,669 (GRCm39) |
H404L |
probably damaging |
Het |
| Zfp879 |
A |
G |
11: 50,728,757 (GRCm39) |
M79T |
probably benign |
Het |
| Zmiz2 |
G |
A |
11: 6,352,441 (GRCm39) |
C600Y |
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 |
|
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'- CTGTGGCACATGTTCTTTCAG -3'
(R):5'- ATTCTTCTATACCTTCTAGAGCGAG -3'
Sequencing Primer
(F):5'- TGCAATTGTGAGGTGCAC -3'
(R):5'- CCTTCTAGAGCGAGTAAAAAGAAAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation