Incidental Mutation 'R2281:Ccdc168'
| ID |
243087 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| MMRRC Submission |
040280-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R2281 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44095620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 1826
(H1826L)
|
| 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: H1826L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: H1826L
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
G |
3: 146,352,179 (GRCm39) |
L228S |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,278,136 (GRCm39) |
K3105N |
probably damaging |
Het |
| Abca3 |
T |
A |
17: 24,595,700 (GRCm39) |
L351Q |
possibly damaging |
Het |
| Acadm |
A |
G |
3: 153,638,680 (GRCm39) |
I231T |
possibly damaging |
Het |
| Adamts4 |
A |
T |
1: 171,083,798 (GRCm39) |
Q456L |
probably damaging |
Het |
| Adgra3 |
C |
T |
5: 50,159,222 (GRCm39) |
V343I |
probably benign |
Het |
| Ajuba |
C |
A |
14: 54,814,645 (GRCm39) |
G26V |
probably damaging |
Het |
| Aldh1a1 |
A |
G |
19: 20,597,455 (GRCm39) |
I145M |
possibly damaging |
Het |
| Ankrd42 |
G |
A |
7: 92,274,981 (GRCm39) |
Q110* |
probably null |
Het |
| Ano3 |
T |
A |
2: 110,513,104 (GRCm39) |
E630D |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,549,832 (GRCm39) |
D771G |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,216,896 (GRCm39) |
D21G |
probably damaging |
Het |
| Atg13 |
T |
C |
2: 91,509,770 (GRCm39) |
N374S |
probably benign |
Het |
| Ccser1 |
A |
T |
6: 61,547,799 (GRCm39) |
M49L |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,852,365 (GRCm39) |
E160G |
probably damaging |
Het |
| Cpd |
T |
C |
11: 76,688,627 (GRCm39) |
K882E |
probably benign |
Het |
| Crtac1 |
G |
A |
19: 42,272,006 (GRCm39) |
L646F |
unknown |
Het |
| Cyp27b1 |
T |
G |
10: 126,884,163 (GRCm39) |
V5G |
probably damaging |
Het |
| Dcaf11 |
G |
T |
14: 55,806,828 (GRCm39) |
*550Y |
probably null |
Het |
| Dhx58 |
A |
G |
11: 100,588,980 (GRCm39) |
|
probably null |
Het |
| Dlg2 |
T |
A |
7: 92,087,249 (GRCm39) |
I881N |
probably damaging |
Het |
| Ece1 |
C |
T |
4: 137,673,673 (GRCm39) |
T407M |
possibly damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,836 (GRCm39) |
V68I |
possibly damaging |
Het |
| Egln1 |
T |
C |
8: 125,675,153 (GRCm39) |
D214G |
probably benign |
Het |
| Espn |
T |
C |
4: 152,220,002 (GRCm39) |
T47A |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,023,289 (GRCm39) |
I1616V |
possibly damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,198,707 (GRCm39) |
D2640G |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,867,463 (GRCm39) |
K52R |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,886,832 (GRCm39) |
V306A |
probably damaging |
Het |
| Glod4 |
A |
T |
11: 76,128,635 (GRCm39) |
I70N |
possibly damaging |
Het |
| Gsn |
T |
A |
2: 35,173,930 (GRCm39) |
V2E |
probably benign |
Het |
| H1f2 |
A |
G |
13: 23,922,907 (GRCm39) |
K26E |
probably benign |
Het |
| Hrg |
C |
T |
16: 22,780,059 (GRCm39) |
|
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,113,898 (GRCm39) |
T592A |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,941,472 (GRCm39) |
D521G |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,683,410 (GRCm39) |
H2744R |
possibly damaging |
Het |
| Lsr |
C |
T |
7: 30,657,770 (GRCm39) |
A397T |
probably damaging |
Het |
| Methig1 |
A |
T |
15: 100,251,241 (GRCm39) |
M51L |
possibly damaging |
Het |
| Mga |
A |
G |
2: 119,734,204 (GRCm39) |
I351V |
probably benign |
Het |
| Mlf1 |
G |
A |
3: 67,307,084 (GRCm39) |
V250I |
possibly damaging |
Het |
| Mreg |
A |
T |
1: 72,231,223 (GRCm39) |
N78K |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,574,012 (GRCm39) |
D1294G |
probably benign |
Het |
| Nfkb1 |
T |
C |
3: 135,307,282 (GRCm39) |
I548V |
probably damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,439,962 (GRCm39) |
F513S |
possibly damaging |
Het |
| Nphp4 |
A |
G |
4: 152,641,500 (GRCm39) |
K1094E |
possibly damaging |
Het |
| Nr3c2 |
C |
A |
8: 77,636,536 (GRCm39) |
H546N |
probably damaging |
Het |
| Nr4a2 |
T |
A |
2: 57,002,211 (GRCm39) |
M18L |
probably benign |
Het |
| Or2y1f |
A |
C |
11: 49,184,459 (GRCm39) |
T104P |
probably benign |
Het |
| Or4c109 |
G |
A |
2: 88,817,814 (GRCm39) |
T244I |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,590,346 (GRCm39) |
N882S |
unknown |
Het |
| Pde6a |
T |
C |
18: 61,395,505 (GRCm39) |
Y583H |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,356,311 (GRCm39) |
Y209F |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,068,766 (GRCm39) |
S1182T |
probably damaging |
Het |
| Ptger2 |
G |
T |
14: 45,227,107 (GRCm39) |
R229L |
probably damaging |
Het |
| Ptpru |
C |
A |
4: 131,535,810 (GRCm39) |
G389V |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,441,851 (GRCm39) |
N249S |
probably benign |
Het |
| Slc26a5 |
A |
G |
5: 22,036,508 (GRCm39) |
I266T |
possibly damaging |
Het |
| Smyd1 |
T |
C |
6: 71,215,660 (GRCm39) |
N100D |
probably damaging |
Het |
| Spmap2l |
T |
C |
5: 77,207,214 (GRCm39) |
I324T |
probably damaging |
Het |
| Stag3 |
T |
C |
5: 138,296,546 (GRCm39) |
F468S |
probably damaging |
Het |
| Stk31 |
C |
T |
6: 49,394,184 (GRCm39) |
T182I |
probably damaging |
Het |
| Svep1 |
G |
T |
4: 58,082,677 (GRCm39) |
N1982K |
possibly damaging |
Het |
| Tinagl1 |
A |
G |
4: 130,060,786 (GRCm39) |
Y344H |
probably damaging |
Het |
| Tmem216 |
T |
A |
19: 10,529,237 (GRCm39) |
T104S |
probably damaging |
Het |
| Tmem231 |
T |
C |
8: 112,645,563 (GRCm39) |
D112G |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,429,029 (GRCm39) |
I870T |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,302,436 (GRCm39) |
L1035Q |
possibly damaging |
Het |
| Wdr35 |
A |
G |
12: 9,028,628 (GRCm39) |
Q82R |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,940,601 (GRCm39) |
|
probably null |
Het |
| Zc3h7a |
T |
C |
16: 10,976,458 (GRCm39) |
|
probably benign |
Het |
| Zfp532 |
T |
C |
18: 65,757,783 (GRCm39) |
V572A |
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 |
|
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'- GCATTTGGCTCTGGCATCTG -3'
(R):5'- CCCATAGACAGCATATCTTCCCTG -3'
Sequencing Primer
(F):5'- ACTGCGTAAGTGGCTGTAATG -3'
(R):5'- TGTGGCACAACCTTTCTATCAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation