Incidental Mutation 'R6957:Ccdc168'
| ID |
541483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| MMRRC Submission |
045068-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6957 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44096367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 1577
(C1577Y)
|
| 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: C1577Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: C1577Y
| 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: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
A |
G |
1: 138,779,857 (GRCm39) |
S132P |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,871,270 (GRCm39) |
F710L |
probably damaging |
Het |
| Acsm4 |
T |
G |
7: 119,310,622 (GRCm39) |
V503G |
probably damaging |
Het |
| Adam26a |
T |
A |
8: 44,021,940 (GRCm39) |
M517L |
probably benign |
Het |
| Adcy10 |
C |
A |
1: 165,391,854 (GRCm39) |
L1345I |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,715,609 (GRCm39) |
I860V |
probably benign |
Het |
| Alcam |
T |
C |
16: 52,097,257 (GRCm39) |
D333G |
probably damaging |
Het |
| Amt |
C |
A |
9: 108,177,032 (GRCm39) |
F213L |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,604,278 (GRCm39) |
T1333A |
probably damaging |
Het |
| Asxl3 |
C |
A |
18: 22,655,148 (GRCm39) |
L1053I |
probably damaging |
Het |
| Atxn10 |
T |
C |
15: 85,220,699 (GRCm39) |
S12P |
probably damaging |
Het |
| AU021092 |
T |
C |
16: 5,030,017 (GRCm39) |
I333V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,486 (GRCm39) |
I577V |
probably benign |
Het |
| Cadm2 |
A |
T |
16: 66,609,726 (GRCm39) |
F132I |
probably benign |
Het |
| Casp3 |
T |
A |
8: 47,087,308 (GRCm39) |
V85D |
probably damaging |
Het |
| Ccdc85a |
A |
T |
11: 28,342,944 (GRCm39) |
|
probably benign |
Het |
| Cd22 |
T |
C |
7: 30,566,999 (GRCm39) |
R760G |
possibly damaging |
Het |
| Cela3a |
A |
T |
4: 137,135,441 (GRCm39) |
W41R |
probably damaging |
Het |
| Cep164 |
A |
G |
9: 45,683,578 (GRCm39) |
|
probably null |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Ddx20 |
C |
A |
3: 105,591,626 (GRCm39) |
K181N |
probably benign |
Het |
| Dnah14 |
G |
C |
1: 181,612,740 (GRCm39) |
A3846P |
possibly damaging |
Het |
| Ern1 |
A |
C |
11: 106,294,365 (GRCm39) |
I813S |
probably damaging |
Het |
| Fam181a |
G |
A |
12: 103,282,773 (GRCm39) |
G226D |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,844,357 (GRCm39) |
D629V |
unknown |
Het |
| Gipr |
T |
A |
7: 18,898,529 (GRCm39) |
T26S |
probably benign |
Het |
| Gm3159 |
A |
G |
14: 4,398,530 (GRCm38) |
R74G |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,558,786 (GRCm39) |
V1814I |
probably benign |
Het |
| Hacd1 |
A |
T |
2: 14,049,664 (GRCm39) |
V98E |
probably damaging |
Het |
| Iars1 |
T |
G |
13: 49,875,637 (GRCm39) |
F775V |
probably damaging |
Het |
| Il12rb2 |
G |
A |
6: 67,269,636 (GRCm39) |
L726F |
possibly damaging |
Het |
| Itih4 |
T |
C |
14: 30,614,560 (GRCm39) |
V474A |
probably damaging |
Het |
| Kmt2a |
A |
C |
9: 44,731,319 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,904,810 (GRCm39) |
L196* |
probably null |
Het |
| Lipo4 |
A |
G |
19: 33,476,767 (GRCm39) |
V327A |
probably benign |
Het |
| Lratd2 |
T |
C |
15: 60,694,934 (GRCm39) |
T271A |
probably benign |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrp4 |
C |
A |
2: 91,317,387 (GRCm39) |
T837K |
probably damaging |
Het |
| Mad1l1 |
G |
T |
5: 140,051,572 (GRCm39) |
F664L |
probably damaging |
Het |
| Mecr |
A |
G |
4: 131,589,172 (GRCm39) |
T247A |
probably benign |
Het |
| Msi1 |
G |
A |
5: 115,583,483 (GRCm39) |
A228T |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,751,273 (GRCm39) |
N125I |
probably damaging |
Het |
| Mybl2 |
C |
T |
2: 162,914,728 (GRCm39) |
S282F |
possibly damaging |
Het |
| Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
| Nalcn |
T |
C |
14: 123,744,966 (GRCm39) |
D354G |
probably damaging |
Het |
| Nckap1l |
T |
C |
15: 103,399,938 (GRCm39) |
V1040A |
possibly damaging |
Het |
| Nlrp12 |
T |
A |
7: 3,271,160 (GRCm39) |
D1051V |
probably damaging |
Het |
| Nudt7 |
A |
G |
8: 114,860,385 (GRCm39) |
K16R |
probably benign |
Het |
| Or4b1 |
G |
T |
2: 89,979,494 (GRCm39) |
Y285* |
probably null |
Het |
| Or8g29-ps1 |
A |
G |
9: 39,200,577 (GRCm39) |
V203A |
unknown |
Het |
| Paqr3 |
A |
T |
5: 97,256,110 (GRCm39) |
I88K |
possibly damaging |
Het |
| Parp9 |
A |
G |
16: 35,768,716 (GRCm39) |
M299V |
probably benign |
Het |
| Pde4dip |
A |
T |
3: 97,731,649 (GRCm39) |
|
probably null |
Het |
| Pex13 |
T |
G |
11: 23,605,628 (GRCm39) |
M201L |
probably benign |
Het |
| Pfas |
C |
A |
11: 68,884,709 (GRCm39) |
V498L |
probably benign |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,070,414 (GRCm39) |
D932V |
probably damaging |
Het |
| Qng1 |
C |
A |
13: 58,529,775 (GRCm39) |
C279F |
probably damaging |
Het |
| Qsox2 |
C |
T |
2: 26,107,654 (GRCm39) |
A445T |
probably benign |
Het |
| Rapgef1 |
C |
A |
2: 29,623,710 (GRCm39) |
Q820K |
possibly damaging |
Het |
| Samd13 |
A |
G |
3: 146,368,424 (GRCm39) |
|
probably null |
Het |
| Samm50 |
G |
T |
15: 84,082,850 (GRCm39) |
D104Y |
probably damaging |
Het |
| Sbk3 |
A |
T |
7: 4,970,522 (GRCm39) |
F282L |
probably benign |
Het |
| Sfmbt1 |
C |
T |
14: 30,509,546 (GRCm39) |
H342Y |
probably benign |
Het |
| Sgo2b |
CCATCATCATCATCATCATCAT |
CCATCATCATCATCATCAT |
8: 64,384,489 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,043,344 (GRCm39) |
L596* |
probably null |
Het |
| Spata31h1 |
A |
T |
10: 82,129,620 (GRCm39) |
I1130K |
probably benign |
Het |
| St8sia3 |
T |
C |
18: 64,404,853 (GRCm39) |
S377P |
probably benign |
Het |
| Stmnd1 |
T |
G |
13: 46,427,375 (GRCm39) |
S28A |
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,920,561 (GRCm39) |
L458Q |
probably damaging |
Het |
| Synm |
C |
T |
7: 67,385,848 (GRCm39) |
V163I |
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 57,028,686 (GRCm39) |
C161R |
probably damaging |
Het |
| Tnfrsf4 |
G |
A |
4: 156,100,625 (GRCm39) |
V215I |
probably benign |
Het |
| Vars2 |
T |
G |
17: 35,977,967 (GRCm39) |
K67Q |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,753 (GRCm39) |
Y559* |
probably null |
Het |
| Wdpcp |
T |
C |
11: 21,671,154 (GRCm39) |
I465T |
possibly damaging |
Het |
| Zwilch |
A |
C |
9: 64,069,844 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- TGTTCAGTGTCTCGTAGGCC -3'
(R):5'- TGGAGATACATACAATGGGCC -3'
Sequencing Primer
(F):5'- TCTCGTAGGCCAGGGTAAAAGTC -3'
(R):5'- ATTTAAGTGCATCCATACTGCCACG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation