Incidental Mutation 'R4012:Ccdc168'
| ID |
311720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc168
|
| Ensembl Gene |
ENSMUSG00000091844 |
| Gene Name |
coiled-coil domain containing 168 |
| Synonyms |
Gm8251 |
| MMRRC Submission |
040949-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R4012 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
44095032-44118906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44100129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 323
(D323G)
|
| 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: D323G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: D323G
| 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 |
0.1376 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.0%
|
| Validation Efficiency |
100% (79/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
G |
T |
18: 80,174,036 (GRCm39) |
F124L |
probably benign |
Het |
| Aicda |
A |
G |
6: 122,536,449 (GRCm39) |
K10E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,226,575 (GRCm39) |
C910R |
probably benign |
Het |
| Ankrd11 |
T |
A |
8: 123,619,156 (GRCm39) |
K1565N |
probably damaging |
Het |
| Apol7b |
T |
C |
15: 77,308,909 (GRCm39) |
D63G |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,764,187 (GRCm39) |
C1148R |
possibly damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,694,629 (GRCm39) |
D102G |
probably damaging |
Het |
| Babam2 |
T |
C |
5: 32,158,782 (GRCm39) |
V244A |
probably damaging |
Het |
| Brd10 |
T |
G |
19: 29,720,990 (GRCm39) |
K622N |
probably damaging |
Het |
| Cars1 |
G |
A |
7: 143,113,411 (GRCm39) |
A668V |
possibly damaging |
Het |
| Ccdc185 |
T |
A |
1: 182,576,453 (GRCm39) |
S79C |
possibly damaging |
Het |
| Ccdc88b |
G |
C |
19: 6,826,359 (GRCm39) |
R1119G |
probably damaging |
Het |
| Cebpz |
A |
T |
17: 79,231,896 (GRCm39) |
V810E |
probably damaging |
Het |
| Cep120 |
T |
C |
18: 53,871,654 (GRCm39) |
T73A |
probably damaging |
Het |
| Chat |
C |
A |
14: 32,145,269 (GRCm39) |
C380F |
possibly damaging |
Het |
| Cltc |
T |
C |
11: 86,648,087 (GRCm39) |
Q10R |
probably benign |
Het |
| Cripto |
C |
T |
9: 110,769,781 (GRCm39) |
M169I |
probably benign |
Het |
| Cst8 |
T |
C |
2: 148,646,622 (GRCm39) |
|
probably benign |
Het |
| Cts3 |
C |
T |
13: 61,715,868 (GRCm39) |
|
probably null |
Het |
| Cyp4a29 |
T |
A |
4: 115,105,707 (GRCm39) |
D136E |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,286,297 (GRCm39) |
|
probably null |
Het |
| Dsg4 |
T |
A |
18: 20,584,919 (GRCm39) |
V211E |
possibly damaging |
Het |
| Efcab5 |
C |
T |
11: 77,008,656 (GRCm39) |
V957I |
probably damaging |
Het |
| Eif4g2 |
A |
T |
7: 110,673,358 (GRCm39) |
L807Q |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,366,731 (GRCm39) |
|
probably benign |
Het |
| Epm2aip1 |
A |
T |
9: 111,101,458 (GRCm39) |
I144F |
probably benign |
Het |
| Erbb4 |
C |
T |
1: 68,599,735 (GRCm39) |
R114H |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam170a |
C |
T |
18: 50,415,038 (GRCm39) |
A228V |
probably damaging |
Het |
| Foxred1 |
A |
T |
9: 35,117,571 (GRCm39) |
M254K |
possibly damaging |
Het |
| Gm1527 |
T |
A |
3: 28,952,969 (GRCm39) |
C90S |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,947 (GRCm39) |
T370A |
probably benign |
Het |
| Gtf2e2 |
A |
G |
8: 34,245,993 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
A |
T |
8: 26,445,817 (GRCm39) |
L359* |
probably null |
Het |
| Hhip |
A |
T |
8: 80,719,223 (GRCm39) |
C435S |
probably damaging |
Het |
| Hoxa13 |
T |
C |
6: 52,236,107 (GRCm39) |
D310G |
possibly damaging |
Het |
| Hspa14 |
T |
C |
2: 3,513,675 (GRCm39) |
Y18C |
probably damaging |
Het |
| Ighg1 |
A |
G |
12: 113,293,270 (GRCm39) |
V140A |
probably damaging |
Het |
| Ighv1-58 |
A |
T |
12: 115,275,930 (GRCm39) |
Y69* |
probably null |
Het |
| Inpp5j |
A |
G |
11: 3,450,185 (GRCm39) |
F615L |
probably benign |
Het |
| Kcna1 |
T |
A |
6: 126,619,873 (GRCm39) |
Y149F |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,625,877 (GRCm39) |
|
probably null |
Het |
| Krtap4-1 |
G |
T |
11: 99,518,637 (GRCm39) |
C124* |
probably null |
Het |
| Lama1 |
T |
A |
17: 68,119,368 (GRCm39) |
L2615* |
probably null |
Het |
| Lcp2 |
A |
T |
11: 34,018,439 (GRCm39) |
I72F |
probably damaging |
Het |
| Med1 |
T |
A |
11: 98,062,532 (GRCm39) |
I189F |
possibly damaging |
Het |
| Meioc |
C |
T |
11: 102,566,654 (GRCm39) |
R757C |
probably damaging |
Het |
| Mtr |
T |
A |
13: 12,204,283 (GRCm39) |
H1171L |
probably damaging |
Het |
| Mtr |
G |
C |
13: 12,204,284 (GRCm39) |
H1171D |
probably damaging |
Het |
| Naa12 |
A |
G |
18: 80,255,339 (GRCm39) |
D211G |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,202,620 (GRCm39) |
Y240C |
possibly damaging |
Het |
| Nsun4 |
T |
A |
4: 115,908,259 (GRCm39) |
H767L |
possibly damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,064,189 (GRCm39) |
N284K |
probably benign |
Het |
| Pcdhgb8 |
A |
C |
18: 37,896,414 (GRCm39) |
S495R |
probably benign |
Het |
| Pramel1 |
T |
A |
4: 143,123,260 (GRCm39) |
I79N |
possibly damaging |
Het |
| Prdm6 |
A |
T |
18: 53,673,390 (GRCm39) |
E183D |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,254,740 (GRCm39) |
F1125L |
probably benign |
Het |
| Prkg2 |
T |
C |
5: 99,127,674 (GRCm39) |
I346V |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,002,584 (GRCm39) |
D1558G |
probably damaging |
Het |
| Pttg1ip2 |
A |
C |
5: 5,528,955 (GRCm39) |
L20R |
probably damaging |
Het |
| Qng1 |
T |
A |
13: 58,529,800 (GRCm39) |
K271* |
probably null |
Het |
| Rab11fip3 |
GCTCGTCT |
GCT |
17: 26,287,002 (GRCm39) |
|
probably null |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| S100a6 |
A |
G |
3: 90,521,508 (GRCm39) |
D50G |
probably damaging |
Het |
| Shroom3 |
T |
A |
5: 93,096,342 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
G |
A |
12: 82,388,556 (GRCm39) |
V261M |
possibly damaging |
Het |
| Slc5a4b |
T |
A |
10: 75,910,826 (GRCm39) |
I337F |
probably damaging |
Het |
| Smarcc1 |
A |
G |
9: 109,961,273 (GRCm39) |
Y30C |
possibly damaging |
Het |
| Swap70 |
A |
G |
7: 109,880,512 (GRCm39) |
K576E |
possibly damaging |
Het |
| Syt6 |
A |
G |
3: 103,532,809 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,241,097 (GRCm39) |
I1726V |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,987,651 (GRCm39) |
K453E |
possibly damaging |
Het |
| Tmem38b |
A |
G |
4: 53,854,409 (GRCm39) |
I214V |
probably benign |
Het |
| Tonsl |
A |
T |
15: 76,521,244 (GRCm39) |
I354N |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,903,472 (GRCm39) |
I303V |
possibly damaging |
Het |
| Trim66 |
A |
G |
7: 109,057,338 (GRCm39) |
S1032P |
probably damaging |
Het |
| Tsc22d4 |
T |
C |
5: 137,756,590 (GRCm39) |
V6A |
probably benign |
Het |
| Ubtd2 |
A |
G |
11: 32,449,260 (GRCm39) |
K36E |
probably benign |
Het |
| Zkscan2 |
T |
C |
7: 123,097,883 (GRCm39) |
E171G |
possibly 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 |
|
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'- CTCTGCAACTCTTTCATAGTGAGTG -3'
(R):5'- TTCAGTCTCAGCGAGCACAG -3'
Sequencing Primer
(F):5'- CAACTCTTTCATAGTGAGTGTACATG -3'
(R):5'- GTCTCAGCGAGCACAGTACCC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation