Incidental Mutation 'R4837:Ccdc168'
| ID |
374314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| MMRRC Submission |
042452-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44100594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 168
(T168I)
|
| 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: T168I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: T168I
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
99% (75/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,846,203 (GRCm39) |
H618L |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,914,081 (GRCm39) |
T1230A |
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,749,359 (GRCm39) |
S203P |
probably benign |
Het |
| Allc |
A |
G |
12: 28,609,308 (GRCm39) |
V244A |
probably benign |
Het |
| Ap3m1 |
G |
A |
14: 21,087,225 (GRCm39) |
P157L |
probably damaging |
Het |
| Arhgef2 |
T |
G |
3: 88,540,250 (GRCm39) |
I97S |
probably damaging |
Het |
| Btaf1 |
C |
A |
19: 36,944,185 (GRCm39) |
T398K |
probably benign |
Het |
| Cabp1 |
T |
C |
5: 115,311,212 (GRCm39) |
M158V |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,549,863 (GRCm39) |
P340L |
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,141,217 (GRCm39) |
K524E |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,586,474 (GRCm39) |
V189A |
probably benign |
Het |
| Cmc2 |
A |
G |
8: 117,620,879 (GRCm39) |
F34S |
probably damaging |
Het |
| Ctcfl |
G |
T |
2: 172,955,449 (GRCm39) |
T271N |
probably benign |
Het |
| Cyp4f16 |
T |
A |
17: 32,761,738 (GRCm39) |
F124I |
possibly damaging |
Het |
| Ddx41 |
C |
A |
13: 55,679,461 (GRCm39) |
R479L |
possibly damaging |
Het |
| Dgcr6 |
C |
A |
16: 17,884,710 (GRCm39) |
N87K |
possibly damaging |
Het |
| Dll1 |
A |
G |
17: 15,589,121 (GRCm39) |
L518P |
probably damaging |
Het |
| Dnaja4 |
G |
T |
9: 54,617,928 (GRCm39) |
M263I |
probably benign |
Het |
| Dusp13b |
T |
A |
14: 21,793,593 (GRCm39) |
|
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,685,375 (GRCm39) |
I357N |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,838,678 (GRCm39) |
Y2522C |
unknown |
Het |
| Fam222a |
T |
A |
5: 114,732,458 (GRCm39) |
C4* |
probably null |
Het |
| Filip1 |
T |
C |
9: 79,726,741 (GRCm39) |
D626G |
probably damaging |
Het |
| Ghrhr |
C |
T |
6: 55,365,172 (GRCm39) |
R389C |
probably damaging |
Het |
| Gstm3 |
T |
A |
3: 107,871,531 (GRCm39) |
T217S |
probably benign |
Het |
| Gucy2g |
T |
C |
19: 55,214,485 (GRCm39) |
T548A |
probably benign |
Het |
| Hectd3 |
T |
A |
4: 116,859,794 (GRCm39) |
C744S |
probably null |
Het |
| Hnrnpl |
T |
C |
7: 28,516,762 (GRCm39) |
S184P |
probably benign |
Het |
| Il3 |
G |
A |
11: 54,158,083 (GRCm39) |
|
probably benign |
Het |
| Itga5 |
C |
T |
15: 103,262,511 (GRCm39) |
G330S |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,904,312 (GRCm39) |
T355A |
possibly damaging |
Het |
| Lipk |
A |
C |
19: 34,009,720 (GRCm39) |
S208R |
probably damaging |
Het |
| Mrs2 |
T |
A |
13: 25,183,040 (GRCm39) |
|
probably null |
Het |
| Mutyh |
A |
G |
4: 116,674,887 (GRCm39) |
E372G |
probably damaging |
Het |
| Myh4 |
C |
A |
11: 67,149,818 (GRCm39) |
A1821D |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,279,693 (GRCm39) |
E881G |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,136,552 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,383,759 (GRCm39) |
E52G |
probably damaging |
Het |
| Opn4 |
A |
G |
14: 34,318,261 (GRCm39) |
V242A |
probably damaging |
Het |
| Or4e1 |
A |
T |
14: 52,701,103 (GRCm39) |
M121K |
probably damaging |
Het |
| Or4k44 |
T |
A |
2: 111,368,319 (GRCm39) |
H105L |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,748 (GRCm39) |
T160A |
probably benign |
Het |
| Or6b1 |
T |
G |
6: 42,814,783 (GRCm39) |
|
probably null |
Het |
| Or6b2b |
A |
G |
1: 92,418,697 (GRCm39) |
V260A |
probably benign |
Het |
| Paxbp1 |
G |
A |
16: 90,831,866 (GRCm39) |
Q341* |
probably null |
Het |
| Pcdh7 |
T |
C |
5: 57,877,753 (GRCm39) |
V436A |
possibly damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,622,867 (GRCm39) |
V66M |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,285,749 (GRCm39) |
E951G |
possibly damaging |
Het |
| Plcg1 |
A |
G |
2: 160,592,906 (GRCm39) |
N179S |
probably benign |
Het |
| Prr11 |
A |
C |
11: 86,989,517 (GRCm39) |
S285A |
probably benign |
Het |
| Ranbp17 |
A |
G |
11: 33,278,451 (GRCm39) |
S139P |
probably damaging |
Het |
| Rasa4 |
G |
A |
5: 136,120,664 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
G |
C |
11: 119,333,589 (GRCm39) |
G2934R |
probably benign |
Het |
| Rpap1 |
A |
G |
2: 119,608,732 (GRCm39) |
V210A |
probably benign |
Het |
| Rpn1 |
T |
A |
6: 88,067,187 (GRCm39) |
N182K |
probably benign |
Het |
| Rps24 |
C |
T |
14: 24,541,855 (GRCm39) |
T14I |
possibly damaging |
Het |
| Rrp12 |
C |
T |
19: 41,865,944 (GRCm39) |
|
probably null |
Het |
| Rttn |
T |
A |
18: 89,108,539 (GRCm39) |
|
probably null |
Het |
| Rufy1 |
A |
G |
11: 50,292,320 (GRCm39) |
S490P |
probably damaging |
Het |
| Sec62 |
T |
A |
3: 30,864,018 (GRCm39) |
M100K |
unknown |
Het |
| Spata16 |
A |
G |
3: 26,787,081 (GRCm39) |
H253R |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,158,134 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
A |
G |
4: 135,072,823 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
G |
A |
11: 121,473,611 (GRCm39) |
|
probably null |
Het |
| Tedc2 |
C |
A |
17: 24,439,567 (GRCm39) |
A25S |
probably damaging |
Het |
| Tnr |
A |
T |
1: 159,512,358 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
C |
17: 34,936,981 (GRCm39) |
D3730A |
probably damaging |
Het |
| Tor2a |
G |
A |
2: 32,650,609 (GRCm39) |
G201D |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,395,856 (GRCm39) |
T558A |
probably benign |
Het |
| Vmn1r211 |
G |
T |
13: 23,036,296 (GRCm39) |
Q124K |
probably benign |
Het |
| Wasf3 |
T |
C |
5: 146,397,788 (GRCm39) |
V185A |
probably benign |
Het |
| Zbtb12 |
A |
G |
17: 35,114,985 (GRCm39) |
T257A |
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 |
|
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 |
|
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'- GTACTTCTTCCTGTACTGGGAG -3'
(R):5'- TGCAAAGCCATGTGCCCTAC -3'
Sequencing Primer
(F):5'- CCTGTACTGGGAGAAGAATTTTTC -3'
(R):5'- GTGCTACAAAAACCATTGCCTGTAGG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation