Incidental Mutation 'R7442:Ccdc168'
| ID |
576988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| MMRRC Submission |
045518-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R7442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44097868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1077
(S1077P)
|
| 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: S1077P
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: S1077P
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (76/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
G |
8: 79,946,919 (GRCm39) |
I109T |
probably damaging |
Het |
| A430033K04Rik |
T |
C |
5: 138,645,509 (GRCm39) |
S465P |
possibly damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,078 (GRCm39) |
F753L |
probably damaging |
Het |
| Adam9 |
A |
T |
8: 25,457,223 (GRCm39) |
V635E |
probably damaging |
Het |
| Adgre4 |
T |
A |
17: 56,159,340 (GRCm39) |
V675E |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,014,543 (GRCm39) |
Y469H |
probably benign |
Het |
| Ankdd1b |
T |
G |
13: 96,561,268 (GRCm39) |
K325N |
possibly damaging |
Het |
| Aox1 |
T |
C |
1: 58,121,172 (GRCm39) |
V881A |
probably damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,563,739 (GRCm39) |
T237A |
probably benign |
Het |
| Asah1 |
T |
C |
8: 41,796,602 (GRCm39) |
D331G |
possibly damaging |
Het |
| Atp5f1a |
G |
A |
18: 77,866,820 (GRCm39) |
R231H |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,964,522 (GRCm39) |
P2694L |
probably damaging |
Het |
| Bst1 |
T |
C |
5: 43,979,084 (GRCm39) |
S143P |
probably benign |
Het |
| Cacna1b |
A |
C |
2: 24,497,513 (GRCm39) |
S2132A |
probably benign |
Het |
| Caps2 |
G |
T |
10: 112,044,259 (GRCm39) |
R486L |
probably damaging |
Het |
| Cd68 |
T |
C |
11: 69,556,754 (GRCm39) |
T18A |
probably benign |
Het |
| Cdk8 |
T |
C |
5: 146,229,579 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,932,072 (GRCm39) |
I127N |
unknown |
Het |
| Dsc3 |
T |
C |
18: 20,114,213 (GRCm39) |
D347G |
probably damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,695,786 (GRCm39) |
S491G |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,828,266 (GRCm39) |
Y530* |
probably null |
Het |
| Enc1 |
A |
T |
13: 97,383,248 (GRCm39) |
H586L |
probably benign |
Het |
| Ephb6 |
T |
G |
6: 41,594,981 (GRCm39) |
|
probably null |
Het |
| Etv5 |
G |
T |
16: 22,254,809 (GRCm39) |
Q48K |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 106,019,558 (GRCm39) |
W404R |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,245,132 (GRCm39) |
A252S |
possibly damaging |
Het |
| Foxe3 |
A |
G |
4: 114,782,490 (GRCm39) |
S241P |
unknown |
Het |
| Gm49380 |
T |
A |
9: 44,023,709 (GRCm39) |
M180L |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,593,903 (GRCm39) |
D153V |
probably damaging |
Het |
| Ifi207 |
C |
T |
1: 173,554,997 (GRCm39) |
S895N |
probably benign |
Het |
| Igf1r |
G |
A |
7: 67,823,026 (GRCm39) |
V385M |
probably damaging |
Het |
| Ints9 |
C |
T |
14: 65,232,513 (GRCm39) |
Q191* |
probably null |
Het |
| Ktn1 |
A |
G |
14: 47,952,097 (GRCm39) |
E979G |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,605,238 (GRCm39) |
|
probably null |
Het |
| Lrtm2 |
C |
T |
6: 119,294,392 (GRCm39) |
M246I |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,982,590 (GRCm39) |
V75A |
probably benign |
Het |
| Mia3 |
T |
C |
1: 183,140,220 (GRCm39) |
E165G |
probably benign |
Het |
| Mrps21 |
T |
C |
3: 95,770,128 (GRCm39) |
E67G |
probably damaging |
Het |
| Mybpc1 |
A |
C |
10: 88,362,155 (GRCm39) |
I995S |
probably damaging |
Het |
| Mylk2 |
T |
G |
2: 152,753,346 (GRCm39) |
|
probably benign |
Het |
| Myo16 |
G |
A |
8: 10,322,537 (GRCm39) |
C11Y |
probably damaging |
Het |
| Nudt18 |
A |
C |
14: 70,816,798 (GRCm39) |
D134A |
probably benign |
Het |
| Obox1 |
G |
T |
7: 15,289,491 (GRCm39) |
K93N |
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,624,816 (GRCm39) |
H153L |
possibly damaging |
Het |
| Or2r3 |
A |
T |
6: 42,448,434 (GRCm39) |
M226K |
probably benign |
Het |
| Or56a4 |
T |
C |
7: 104,806,289 (GRCm39) |
Y200C |
probably damaging |
Het |
| Or5ar1 |
A |
T |
2: 85,672,096 (GRCm39) |
V13D |
probably benign |
Het |
| Pkd2l1 |
T |
C |
19: 44,145,668 (GRCm39) |
H185R |
probably benign |
Het |
| Ptpn18 |
A |
G |
1: 34,501,831 (GRCm39) |
T48A |
probably benign |
Het |
| Ptprd |
A |
T |
4: 75,978,058 (GRCm39) |
Y583* |
probably null |
Het |
| Ptprk |
G |
A |
10: 28,450,815 (GRCm39) |
G992D |
probably damaging |
Het |
| Setdb2 |
A |
G |
14: 59,656,700 (GRCm39) |
F206L |
probably damaging |
Het |
| Slain1 |
A |
G |
14: 103,923,150 (GRCm39) |
D247G |
probably damaging |
Het |
| Slc10a2 |
A |
T |
8: 5,139,086 (GRCm39) |
V286E |
possibly damaging |
Het |
| Slc44a2 |
C |
T |
9: 21,256,819 (GRCm39) |
T367I |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,115,919 (GRCm39) |
V685A |
probably benign |
Het |
| Srp54c |
T |
A |
12: 55,302,347 (GRCm39) |
Y333N |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,039,091 (GRCm39) |
S1912P |
unknown |
Het |
| St7l |
A |
G |
3: 104,796,645 (GRCm39) |
T253A |
possibly damaging |
Het |
| Styxl2 |
T |
C |
1: 165,928,584 (GRCm39) |
K343E |
probably benign |
Het |
| Sun3 |
T |
G |
11: 8,981,445 (GRCm39) |
Y53S |
possibly damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,561 (GRCm39) |
N373S |
possibly damaging |
Het |
| Tmco3 |
T |
A |
8: 13,370,781 (GRCm39) |
S648R |
probably damaging |
Het |
| Tmem178 |
T |
A |
17: 81,252,185 (GRCm39) |
V23D |
probably damaging |
Het |
| Tmem229a |
C |
A |
6: 24,955,689 (GRCm39) |
G22W |
probably damaging |
Het |
| Top3a |
C |
T |
11: 60,644,744 (GRCm39) |
S320N |
possibly damaging |
Het |
| Treml1 |
C |
A |
17: 48,673,719 (GRCm39) |
D243E |
probably damaging |
Het |
| Trim42 |
C |
T |
9: 97,244,998 (GRCm39) |
V601M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,573,350 (GRCm39) |
S25848P |
probably damaging |
Het |
| Vmn1r86 |
A |
T |
7: 12,835,983 (GRCm39) |
F298I |
possibly damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,793,662 (GRCm39) |
F2S |
probably benign |
Het |
| Xpc |
A |
G |
6: 91,481,631 (GRCm39) |
L230P |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,867,680 (GRCm39) |
V189A |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,519,468 (GRCm39) |
T197A |
probably damaging |
Het |
| Zswim1 |
A |
G |
2: 164,667,710 (GRCm39) |
K321E |
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 |
|
|
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 |
|
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'- GCTCGGACTACCAAGTATCTTTG -3'
(R):5'- AGCCAAGTTTTCAGTTTCTCCAATC -3'
Sequencing Primer
(F):5'- CGGACTACCAAGTATCTTTGAAATTG -3'
(R):5'- AAGTTTTCAGTTTCTCCAATCTTTTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation