Incidental Mutation 'R9313:Ccdc168'
| ID |
705687 |
| 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: 0.072)
|
| Stock # |
R9313 (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 G
at 44096520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1526
(V1526A)
|
| 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: V1526A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: V1526A
| 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: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,207,220 (GRCm39) |
T324A |
probably benign |
Het |
| Aadat |
G |
A |
8: 60,979,635 (GRCm39) |
V166I |
probably benign |
Het |
| Abca17 |
C |
T |
17: 24,565,207 (GRCm39) |
S75N |
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,411,624 (GRCm39) |
T376A |
probably damaging |
Het |
| Atp5po |
CTTTGACG |
C |
16: 91,723,804 (GRCm39) |
|
probably null |
Het |
| Atp5po |
TTTGACGGT |
TT |
16: 91,723,805 (GRCm39) |
|
probably null |
Het |
| Car9 |
A |
G |
4: 43,507,180 (GRCm39) |
E42G |
probably benign |
Het |
| Cep41 |
T |
C |
6: 30,680,345 (GRCm39) |
K9R |
probably null |
Het |
| Cfap20dc |
T |
A |
14: 8,518,635 (GRCm38) |
T274S |
probably benign |
Het |
| Ckm |
A |
G |
7: 19,149,398 (GRCm39) |
T141A |
probably benign |
Het |
| Clcc1 |
G |
T |
3: 108,581,976 (GRCm39) |
R360S |
probably benign |
Het |
| Clcn3 |
A |
C |
8: 61,390,503 (GRCm39) |
I146R |
probably damaging |
Het |
| Crlf1 |
A |
G |
8: 70,951,466 (GRCm39) |
D115G |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,987,970 (GRCm39) |
I3483F |
probably damaging |
Het |
| Dop1a |
T |
C |
9: 86,406,641 (GRCm39) |
*386Q |
probably null |
Het |
| Eftud2 |
A |
G |
11: 102,730,262 (GRCm39) |
V899A |
probably benign |
Het |
| Ephx3 |
C |
G |
17: 32,408,290 (GRCm39) |
D45H |
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,267,688 (GRCm39) |
S362P |
probably damaging |
Het |
| Fdps |
A |
T |
3: 89,006,655 (GRCm39) |
D78E |
probably benign |
Het |
| Fsd1l |
T |
G |
4: 53,694,760 (GRCm39) |
W405G |
probably damaging |
Het |
| Fsd1l |
T |
C |
4: 53,701,093 (GRCm39) |
V485A |
possibly damaging |
Het |
| Gm12887 |
C |
T |
4: 121,473,701 (GRCm39) |
V50M |
probably benign |
Het |
| Gm45785 |
T |
C |
7: 140,398,616 (GRCm39) |
I94V |
unknown |
Het |
| Hcls1 |
C |
T |
16: 36,777,000 (GRCm39) |
A230V |
probably benign |
Het |
| Hmcn1 |
A |
C |
1: 150,522,343 (GRCm39) |
V3519G |
probably benign |
Het |
| Hmgcs1 |
A |
G |
13: 120,165,963 (GRCm39) |
Y360C |
probably benign |
Het |
| Hsd17b13 |
A |
G |
5: 104,113,639 (GRCm39) |
|
probably null |
Het |
| Ift57 |
T |
A |
16: 49,557,085 (GRCm39) |
D235E |
possibly damaging |
Het |
| Il22b |
A |
G |
10: 118,130,138 (GRCm39) |
C89R |
probably damaging |
Het |
| Iqcn |
G |
A |
8: 71,161,353 (GRCm39) |
G182D |
probably damaging |
Het |
| Krt9 |
T |
A |
11: 100,079,547 (GRCm39) |
Y615F |
unknown |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Marco |
T |
C |
1: 120,421,814 (GRCm39) |
E130G |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,988,804 (GRCm39) |
L184Q |
probably damaging |
Het |
| Mtus1 |
A |
T |
8: 41,535,923 (GRCm39) |
S598T |
probably damaging |
Het |
| Nbeal2 |
C |
A |
9: 110,463,436 (GRCm39) |
R1265L |
probably damaging |
Het |
| Odf2 |
G |
T |
2: 29,816,815 (GRCm39) |
G754C |
probably benign |
Het |
| Or2m12 |
T |
G |
16: 19,105,100 (GRCm39) |
Y131S |
probably benign |
Het |
| Or4x13 |
C |
A |
2: 90,231,917 (GRCm39) |
T304K |
probably benign |
Het |
| Or5w11 |
T |
C |
2: 87,459,076 (GRCm39) |
S90P |
probably benign |
Het |
| Or6c69b |
A |
T |
10: 129,626,789 (GRCm39) |
I223N |
probably damaging |
Het |
| Paqr8 |
G |
A |
1: 21,005,128 (GRCm39) |
W94* |
probably null |
Het |
| Pkd1 |
G |
A |
17: 24,813,932 (GRCm39) |
G4132D |
probably damaging |
Het |
| Pom121l2 |
A |
G |
13: 22,168,506 (GRCm39) |
M926V |
probably benign |
Het |
| Postn |
A |
T |
3: 54,273,336 (GRCm39) |
Y79F |
probably damaging |
Het |
| Prl7d1 |
T |
C |
13: 27,893,182 (GRCm39) |
E242G |
probably benign |
Het |
| Rcor3 |
G |
T |
1: 191,810,181 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Rnf157 |
A |
G |
11: 116,250,718 (GRCm39) |
V161A |
probably damaging |
Het |
| Rnf38 |
G |
A |
4: 44,143,584 (GRCm39) |
T150M |
probably damaging |
Het |
| Scn4b |
T |
A |
9: 45,058,013 (GRCm39) |
V35E |
probably damaging |
Het |
| Serpina3i |
T |
C |
12: 104,231,672 (GRCm39) |
I103T |
probably damaging |
Het |
| Shcbp1 |
T |
A |
8: 4,794,518 (GRCm39) |
D425V |
probably damaging |
Het |
| Sidt2 |
T |
C |
9: 45,852,658 (GRCm39) |
T776A |
possibly damaging |
Het |
| Siglecg |
A |
G |
7: 43,061,856 (GRCm39) |
D534G |
probably benign |
Het |
| Sipa1l3 |
T |
A |
7: 29,077,439 (GRCm39) |
T778S |
probably benign |
Het |
| Slc13a1 |
A |
G |
6: 24,108,203 (GRCm39) |
V291A |
probably benign |
Het |
| Stra6l |
A |
G |
4: 45,881,454 (GRCm39) |
I439V |
probably benign |
Het |
| Tdrd7 |
G |
A |
4: 46,005,319 (GRCm39) |
S375N |
probably benign |
Het |
| Tut7 |
A |
T |
13: 59,947,798 (GRCm39) |
M841K |
probably benign |
Het |
| Vmn1r192 |
T |
A |
13: 22,372,191 (GRCm39) |
I10L |
probably benign |
Het |
| Vmn2r34 |
T |
G |
7: 7,686,817 (GRCm39) |
L293F |
possibly damaging |
Het |
| Xirp2 |
G |
T |
2: 67,347,322 (GRCm39) |
A3188S |
probably damaging |
Het |
| Zfp219 |
A |
G |
14: 52,246,200 (GRCm39) |
V309A |
probably damaging |
Het |
| Zfp341 |
C |
A |
2: 154,469,907 (GRCm39) |
P197T |
probably damaging |
Het |
| Zfp628 |
G |
A |
7: 4,922,549 (GRCm39) |
R257H |
probably benign |
Het |
| Zfp644 |
T |
G |
5: 106,784,324 (GRCm39) |
Y741S |
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 |
|
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 |
|
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'- AGAGTACTACTTTCCTTACTGCCATG -3'
(R):5'- AGGAAGGCCTTGACAGAACC -3'
Sequencing Primer
(F):5'- GCCATGTCCTGTTTTACATACTGAAC -3'
(R):5'- CATGTTCTCAACAAGTTCTCAGAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation