Incidental Mutation 'R7347:Ccdc168'
| ID |
570242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| MMRRC Submission |
045374-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R7347 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 44098656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 814
(P814Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168641]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168641
AA Change: P814Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: P814Q
| 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 |
0.2143 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (80/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930564D02Rik |
G |
T |
3: 104,985,728 (GRCm39) |
R47S |
unknown |
Het |
| Abtb2 |
T |
G |
2: 103,397,757 (GRCm39) |
I229S |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,727,441 (GRCm39) |
L457P |
probably damaging |
Het |
| Amer3 |
C |
A |
1: 34,626,983 (GRCm39) |
D407E |
probably damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,760,335 (GRCm39) |
S729P |
probably benign |
Het |
| Asap2 |
T |
G |
12: 21,279,458 (GRCm39) |
I418S |
probably benign |
Het |
| Atp5mf |
T |
C |
5: 145,125,295 (GRCm39) |
|
probably null |
Het |
| Brinp3 |
T |
A |
1: 146,777,824 (GRCm39) |
V757E |
probably benign |
Het |
| Brip1 |
C |
T |
11: 86,029,929 (GRCm39) |
G572R |
probably benign |
Het |
| C3 |
C |
A |
17: 57,530,215 (GRCm39) |
R462L |
probably benign |
Het |
| Cat |
T |
A |
2: 103,293,643 (GRCm39) |
H395L |
probably benign |
Het |
| Cela3a |
T |
C |
4: 137,129,917 (GRCm39) |
N235D |
possibly damaging |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,076,094 (GRCm39) |
G993W |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,218,484 (GRCm39) |
|
probably null |
Het |
| Coro2b |
G |
T |
9: 62,396,654 (GRCm39) |
H29N |
probably benign |
Het |
| Dll3 |
C |
T |
7: 27,998,536 (GRCm39) |
R143H |
probably damaging |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| Dync1i1 |
T |
A |
6: 5,784,530 (GRCm39) |
*114R |
probably null |
Het |
| Ecm2 |
T |
C |
13: 49,668,554 (GRCm39) |
S86P |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,506,724 (GRCm39) |
|
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,644,328 (GRCm39) |
|
probably null |
Het |
| Exph5 |
A |
G |
9: 53,287,196 (GRCm39) |
N1426D |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,529,586 (GRCm39) |
F110L |
probably benign |
Het |
| Flt1 |
T |
A |
5: 147,517,191 (GRCm39) |
E1032V |
probably damaging |
Het |
| Galnt5 |
A |
T |
2: 57,907,205 (GRCm39) |
H556L |
probably benign |
Het |
| Glb1l3 |
A |
T |
9: 26,740,299 (GRCm39) |
Y344N |
probably benign |
Het |
| Glrx3 |
C |
A |
7: 137,061,015 (GRCm39) |
D216E |
possibly damaging |
Het |
| Gm45871 |
T |
A |
18: 90,609,499 (GRCm39) |
C246S |
probably damaging |
Het |
| Gstm4 |
A |
G |
3: 107,949,689 (GRCm39) |
L137P |
probably benign |
Het |
| Hsd17b13 |
T |
C |
5: 104,116,616 (GRCm39) |
T169A |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,326,994 (GRCm39) |
T4778P |
probably benign |
Het |
| Ifna15 |
A |
G |
4: 88,476,220 (GRCm39) |
L88P |
probably damaging |
Het |
| Inhca |
T |
A |
9: 103,159,845 (GRCm39) |
E22V |
possibly damaging |
Het |
| Kcnab1 |
G |
A |
3: 65,283,952 (GRCm39) |
R390H |
probably benign |
Het |
| Kng1 |
C |
A |
16: 22,886,537 (GRCm39) |
H161N |
possibly damaging |
Het |
| Lamp5 |
T |
C |
2: 135,902,878 (GRCm39) |
V199A |
probably benign |
Het |
| Lrig3 |
G |
A |
10: 125,845,835 (GRCm39) |
V755M |
probably damaging |
Het |
| Mad1l1 |
C |
T |
5: 140,129,799 (GRCm39) |
R412H |
probably damaging |
Het |
| Marchf6 |
C |
A |
15: 31,486,505 (GRCm39) |
C350F |
probably benign |
Het |
| Mastl |
A |
G |
2: 23,023,401 (GRCm39) |
S441P |
probably damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,590,951 (GRCm39) |
M231L |
probably benign |
Het |
| Mical2 |
T |
C |
7: 111,981,358 (GRCm39) |
V444A |
probably benign |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo15a |
A |
G |
11: 60,368,787 (GRCm39) |
M516V |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,790,413 (GRCm39) |
F1110L |
probably damaging |
Het |
| Nbr1 |
T |
A |
11: 101,460,147 (GRCm39) |
L381* |
probably null |
Het |
| Nln |
T |
C |
13: 104,187,355 (GRCm39) |
K325E |
probably damaging |
Het |
| Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,663 (GRCm39) |
P271S |
probably benign |
Het |
| Obox6 |
A |
C |
7: 15,568,571 (GRCm39) |
L102V |
possibly damaging |
Het |
| Or4a69 |
T |
C |
2: 89,312,799 (GRCm39) |
S227G |
probably benign |
Het |
| Or4p8 |
T |
C |
2: 88,727,615 (GRCm39) |
I109V |
possibly damaging |
Het |
| Or7g33 |
A |
G |
9: 19,448,395 (GRCm39) |
M277T |
probably damaging |
Het |
| Or8k16 |
T |
C |
2: 85,520,181 (GRCm39) |
M136T |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,186,294 (GRCm39) |
H567R |
probably damaging |
Het |
| Pdgfra |
C |
T |
5: 75,343,759 (GRCm39) |
S760L |
possibly damaging |
Het |
| Pid1 |
T |
A |
1: 84,136,850 (GRCm39) |
I94L |
unknown |
Het |
| Plekhn1 |
T |
C |
4: 156,307,128 (GRCm39) |
H474R |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,776,988 (GRCm39) |
S329T |
possibly damaging |
Het |
| Pros1 |
G |
T |
16: 62,739,886 (GRCm39) |
R445L |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,062,260 (GRCm39) |
H1370Q |
probably benign |
Het |
| Sgce |
T |
A |
6: 4,694,106 (GRCm39) |
R283S |
probably damaging |
Het |
| Slc25a20 |
T |
G |
9: 108,559,657 (GRCm39) |
|
probably null |
Het |
| Slc6a1 |
T |
C |
6: 114,288,779 (GRCm39) |
V446A |
probably damaging |
Het |
| Slc6a4 |
C |
G |
11: 76,907,911 (GRCm39) |
Y358* |
probably null |
Het |
| Sned1 |
A |
C |
1: 93,209,458 (GRCm39) |
E857A |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,723,548 (GRCm39) |
L544Q |
probably benign |
Het |
| Spata31e3 |
T |
C |
13: 50,399,780 (GRCm39) |
I849V |
probably benign |
Het |
| Spdye4b |
C |
T |
5: 143,188,145 (GRCm39) |
R213C |
possibly damaging |
Het |
| Spry2 |
T |
G |
14: 106,130,946 (GRCm39) |
E80A |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,497,015 (GRCm39) |
C142Y |
probably benign |
Het |
| Sync |
A |
T |
4: 129,188,099 (GRCm39) |
Q377L |
probably benign |
Het |
| Tdrd12 |
A |
G |
7: 35,185,117 (GRCm39) |
C718R |
|
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Tmbim1 |
T |
C |
1: 74,330,438 (GRCm39) |
E185G |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,019,330 (GRCm39) |
M1031V |
probably damaging |
Het |
| Vmn1r71 |
C |
T |
7: 10,482,428 (GRCm39) |
V87I |
not run |
Het |
| Vmn2r49 |
A |
G |
7: 9,720,741 (GRCm39) |
V250A |
probably benign |
Het |
| Yipf3 |
A |
C |
17: 46,561,753 (GRCm39) |
T187P |
probably damaging |
Het |
| Zfp148 |
G |
T |
16: 33,255,160 (GRCm39) |
R50L |
possibly damaging |
Het |
| Zfp628 |
G |
A |
7: 4,924,817 (GRCm39) |
G1013E |
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 |
|
|
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'- TCCTGGGCATCTGATGGTTC -3'
(R):5'- TGGTTTAGAAAGCAAGCCACCTTC -3'
Sequencing Primer
(F):5'- CATCTGATGGTTCTTGGAAATTTTC -3'
(R):5'- ACCTTCTCCACTCCCACAAATTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation