Incidental Mutation 'R0648:Ccdc168'
| ID |
57310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| MMRRC Submission |
038833-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R0648 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44095723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1792
(S1792P)
|
| 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: S1792P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: S1792P
| 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 |
0.1233 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (80/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,184,632 (GRCm39) |
V1009A |
possibly damaging |
Het |
| Acta2 |
T |
C |
19: 34,225,934 (GRCm39) |
I87V |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,412,515 (GRCm39) |
Y1560H |
unknown |
Het |
| Bcor |
C |
T |
X: 11,925,290 (GRCm39) |
R102Q |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,232,057 (GRCm39) |
D179E |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,283,426 (GRCm39) |
S46T |
probably damaging |
Het |
| Ccdc18 |
A |
C |
5: 108,322,853 (GRCm39) |
Q651P |
probably damaging |
Het |
| Cdc73 |
T |
C |
1: 143,571,200 (GRCm39) |
T80A |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 109,993,337 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
G |
A |
3: 134,935,843 (GRCm39) |
G426D |
probably damaging |
Het |
| Cenpt |
A |
G |
8: 106,571,592 (GRCm39) |
V487A |
probably damaging |
Het |
| Clec2m |
A |
G |
6: 129,307,932 (GRCm39) |
F46L |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,296,892 (GRCm39) |
P84S |
unknown |
Het |
| Dennd2d |
A |
G |
3: 106,407,871 (GRCm39) |
I450M |
probably damaging |
Het |
| Dhps |
C |
A |
8: 85,799,911 (GRCm39) |
|
probably null |
Het |
| Ebf1 |
A |
T |
11: 44,882,337 (GRCm39) |
H431L |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,817,265 (GRCm39) |
|
probably benign |
Het |
| Egflam |
T |
C |
15: 7,237,190 (GRCm39) |
H990R |
probably damaging |
Het |
| Ercc6l2 |
A |
G |
13: 63,992,459 (GRCm39) |
T303A |
probably benign |
Het |
| Fam167b |
T |
C |
4: 129,472,150 (GRCm39) |
K7E |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,450,049 (GRCm39) |
I67V |
probably benign |
Het |
| Fhip1a |
A |
C |
3: 85,637,921 (GRCm39) |
V126G |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,636,744 (GRCm39) |
V2045D |
possibly damaging |
Het |
| Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
| Gpx6 |
A |
T |
13: 21,503,047 (GRCm39) |
N154Y |
probably benign |
Het |
| H2bc21 |
A |
G |
3: 96,128,851 (GRCm39) |
S124G |
probably benign |
Het |
| Haus8 |
C |
A |
8: 71,709,174 (GRCm39) |
G79V |
probably damaging |
Het |
| Hdgfl1 |
A |
T |
13: 26,953,836 (GRCm39) |
L79Q |
probably damaging |
Het |
| Impdh2 |
T |
C |
9: 108,440,665 (GRCm39) |
Y83H |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,865,372 (GRCm39) |
T2929A |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,536,307 (GRCm39) |
S199P |
probably benign |
Het |
| Moap1 |
T |
C |
12: 102,708,776 (GRCm39) |
T258A |
probably benign |
Het |
| Mrps35 |
C |
A |
6: 146,957,443 (GRCm39) |
S156* |
probably null |
Het |
| Mrtfa |
A |
G |
15: 80,901,121 (GRCm39) |
S457P |
probably damaging |
Het |
| Mtbp |
C |
T |
15: 55,466,597 (GRCm39) |
P537S |
probably benign |
Het |
| Ncstn |
C |
A |
1: 171,895,454 (GRCm39) |
V565F |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,407,474 (GRCm39) |
N1536S |
possibly damaging |
Het |
| Nkain4 |
T |
C |
2: 180,584,905 (GRCm39) |
Q103R |
possibly damaging |
Het |
| Nsun2 |
T |
A |
13: 69,775,706 (GRCm39) |
N383K |
probably damaging |
Het |
| Or13p4 |
C |
T |
4: 118,547,269 (GRCm39) |
V127I |
probably benign |
Het |
| Or6c33 |
A |
G |
10: 129,853,350 (GRCm39) |
N40S |
probably damaging |
Het |
| Parp1 |
C |
T |
1: 180,428,005 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
G |
A |
17: 24,813,911 (GRCm39) |
R4125H |
probably damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,970,962 (GRCm39) |
I269V |
possibly damaging |
Het |
| Polr1f |
C |
T |
12: 33,487,999 (GRCm39) |
Q305* |
probably null |
Het |
| Ppp1r36dn |
A |
G |
12: 76,498,070 (GRCm39) |
|
noncoding transcript |
Het |
| Qrich1 |
T |
A |
9: 108,422,076 (GRCm39) |
N563K |
probably damaging |
Het |
| Rab3il1 |
TGAAG |
TGAAGAAG |
19: 10,004,752 (GRCm39) |
|
probably benign |
Het |
| Rell1 |
G |
A |
5: 64,082,088 (GRCm39) |
T271M |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,412,016 (GRCm39) |
|
probably null |
Het |
| Rph3a |
C |
T |
5: 121,097,333 (GRCm39) |
R261H |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,739,219 (GRCm39) |
M2161K |
possibly damaging |
Het |
| Scaf11 |
T |
C |
15: 96,316,339 (GRCm39) |
N1075S |
possibly damaging |
Het |
| Serpina3j |
A |
G |
12: 104,280,938 (GRCm39) |
D37G |
probably benign |
Het |
| Siah2 |
A |
G |
3: 58,583,635 (GRCm39) |
V217A |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,810,045 (GRCm39) |
D506G |
probably benign |
Het |
| Skap2 |
A |
C |
6: 51,856,765 (GRCm39) |
V279G |
probably benign |
Het |
| Slc8a3 |
G |
T |
12: 81,361,220 (GRCm39) |
T533N |
probably damaging |
Het |
| Slc9a7 |
A |
T |
X: 20,028,659 (GRCm39) |
|
probably benign |
Het |
| Snai3 |
G |
T |
8: 123,181,733 (GRCm39) |
F241L |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,404,622 (GRCm39) |
S2805P |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,132,864 (GRCm39) |
|
probably benign |
Het |
| Tctn1 |
C |
T |
5: 122,389,761 (GRCm39) |
E254K |
probably benign |
Het |
| Tdrd3 |
C |
T |
14: 87,709,618 (GRCm39) |
T100M |
probably damaging |
Het |
| Tex47 |
T |
C |
5: 7,355,215 (GRCm39) |
V132A |
probably benign |
Het |
| Thbs3 |
A |
G |
3: 89,123,972 (GRCm39) |
|
probably null |
Het |
| Tigit |
T |
A |
16: 43,482,401 (GRCm39) |
Y111F |
probably damaging |
Het |
| Tmem245 |
A |
G |
4: 56,906,270 (GRCm39) |
I148T |
probably benign |
Het |
| Tmem97 |
A |
G |
11: 78,441,365 (GRCm39) |
Y39H |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,839,474 (GRCm39) |
|
probably null |
Het |
| Trp53bp1 |
A |
G |
2: 121,066,188 (GRCm39) |
V846A |
probably benign |
Het |
| Tulp2 |
T |
G |
7: 45,169,210 (GRCm39) |
I259S |
probably damaging |
Het |
| Ubxn1 |
G |
A |
19: 8,851,612 (GRCm39) |
R215H |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,460 (GRCm39) |
F253L |
probably damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,782 (GRCm39) |
M723V |
probably benign |
Het |
| Xndc1 |
T |
C |
7: 101,728,031 (GRCm39) |
V14A |
possibly damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,986,294 (GRCm39) |
|
probably benign |
Het |
| Yes1 |
T |
A |
5: 32,812,862 (GRCm39) |
M322K |
possibly damaging |
Het |
| Zdhhc14 |
C |
A |
17: 5,543,877 (GRCm39) |
N52K |
probably benign |
Het |
| Zfp42 |
A |
G |
8: 43,749,015 (GRCm39) |
V162A |
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 |
|
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 |
|
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'- CAATGAGCATTTGGCTCTGGCATC -3'
(R):5'- CCAGTGCATACAAGCATTCTGCTTC -3'
Sequencing Primer
(F):5'- TCTCTTTACTGCGTAAGTGGC -3'
(R):5'- GGGACGAATGTCTCCCTAAATACTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation