Incidental Mutation 'R8669:Ccdc162'
| ID |
661056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc162
|
| Ensembl Gene |
ENSMUSG00000075225 |
| Gene Name |
coiled-coil domain containing 162 |
| Synonyms |
5033413D22Rik |
| MMRRC Submission |
068524-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R8669 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41538846-41716634 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41552356 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1976
(T1976A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019955]
[ENSMUST00000099932]
[ENSMUST00000179614]
[ENSMUST00000189488]
[ENSMUST00000219054]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019955
AA Change: T139A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000019955
Gene: ENSMUSG00000075225
AA Change: T139A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
138 |
N/A |
INTRINSIC |
|
coiled coil region
|
177 |
217 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000092852
Gene: ENSMUSG00000075225
AA Change: T326A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
140 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099932
AA Change: T513A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225
AA Change: T513A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
327 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
490 |
512 |
N/A |
INTRINSIC |
|
coiled coil region
|
551 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164074
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179614
AA Change: T703A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: T703A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
517 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
702 |
N/A |
INTRINSIC |
|
coiled coil region
|
741 |
797 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189488
AA Change: T1976A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: T1976A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
328 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219054
AA Change: T703A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
T |
12: 72,902,460 (GRCm38) |
S305T |
probably benign |
Het |
| Ankrd42 |
A |
G |
7: 92,619,673 (GRCm38) |
V154A |
possibly damaging |
Het |
| Apc2 |
C |
T |
10: 80,313,657 (GRCm38) |
T1515I |
probably damaging |
Het |
| Blzf1 |
T |
A |
1: 164,302,544 (GRCm38) |
N80Y |
possibly damaging |
Het |
| Cacna2d1 |
T |
C |
5: 15,935,015 (GRCm38) |
M1T |
probably null |
Het |
| Ccdc125 |
T |
C |
13: 100,696,175 (GRCm38) |
L420P |
probably damaging |
Het |
| Cdc20b |
C |
T |
13: 113,071,926 (GRCm38) |
P219S |
possibly damaging |
Het |
| Cep89 |
A |
G |
7: 35,429,177 (GRCm38) |
D585G |
probably benign |
Het |
| Crnn |
A |
T |
3: 93,148,989 (GRCm38) |
R361* |
probably null |
Het |
| Defb5 |
A |
G |
8: 19,250,745 (GRCm38) |
I38V |
probably benign |
Het |
| Defb8 |
A |
G |
8: 19,445,957 (GRCm38) |
V29A |
probably benign |
Het |
| Dgkh |
A |
G |
14: 78,725,019 (GRCm38) |
V24A |
probably benign |
Het |
| Dhrs13 |
G |
C |
11: 78,032,666 (GRCm38) |
R70P |
possibly damaging |
Het |
| Dnah12 |
A |
T |
14: 26,830,625 (GRCm38) |
|
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,590,075 (GRCm38) |
N386S |
probably damaging |
Het |
| Dyrk1a |
G |
T |
16: 94,663,791 (GRCm38) |
R77L |
probably damaging |
Het |
| Fbxw19 |
G |
T |
9: 109,484,414 (GRCm38) |
L239I |
probably benign |
Het |
| Gal3st2b |
A |
T |
1: 93,941,042 (GRCm38) |
I332L |
possibly damaging |
Het |
| Gcnt1 |
T |
G |
19: 17,329,779 (GRCm38) |
K194T |
probably benign |
Het |
| Gm21731 |
C |
A |
13: 120,240,802 (GRCm38) |
P45T |
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,765,043 (GRCm38) |
W475R |
probably benign |
Het |
| Gpatch1 |
C |
A |
7: 35,291,779 (GRCm38) |
W613C |
probably damaging |
Het |
| Gulp1 |
T |
A |
1: 44,766,110 (GRCm38) |
S120T |
probably benign |
Het |
| Ift122 |
C |
A |
6: 115,923,291 (GRCm38) |
Q946K |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,393,967 (GRCm38) |
L1065H |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,405,826 (GRCm38) |
D579G |
probably damaging |
Het |
| Klhl40 |
T |
A |
9: 121,778,022 (GRCm38) |
S83T |
probably benign |
Het |
| Krt19 |
T |
C |
11: 100,141,167 (GRCm38) |
K320E |
probably damaging |
Het |
| Krt83 |
C |
A |
15: 101,487,896 (GRCm38) |
V273L |
probably benign |
Het |
| Lgals4 |
C |
T |
7: 28,841,496 (GRCm38) |
R282C |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,282,035 (GRCm38) |
|
probably null |
Het |
| Lrrk1 |
G |
A |
7: 66,262,596 (GRCm38) |
L1739F |
probably benign |
Het |
| Mthfr |
A |
G |
4: 148,051,477 (GRCm38) |
N336D |
probably benign |
Het |
| Myo6 |
T |
G |
9: 80,266,249 (GRCm38) |
L557R |
unknown |
Het |
| Naip2 |
T |
C |
13: 100,188,969 (GRCm38) |
S144G |
probably benign |
Het |
| Nfatc1 |
T |
C |
18: 80,682,191 (GRCm38) |
K453E |
probably damaging |
Het |
| Olfr598 |
A |
T |
7: 103,329,074 (GRCm38) |
D196V |
probably benign |
Het |
| Osm |
A |
T |
11: 4,239,665 (GRCm38) |
I150L |
probably benign |
Het |
| Phtf1 |
T |
A |
3: 104,003,476 (GRCm38) |
N639K |
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,303,347 (GRCm38) |
M1K |
probably null |
Het |
| Rhbdl3 |
G |
A |
11: 80,353,513 (GRCm38) |
V349M |
probably damaging |
Het |
| Senp7 |
T |
C |
16: 56,165,952 (GRCm38) |
S582P |
probably damaging |
Het |
| Slc16a14 |
A |
G |
1: 84,922,884 (GRCm38) |
S127P |
probably benign |
Het |
| Slc22a21 |
C |
T |
11: 53,979,817 (GRCm38) |
W14* |
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,664,311 (GRCm38) |
E553D |
probably benign |
Het |
| Speer4a |
T |
G |
5: 26,038,238 (GRCm38) |
N83T |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,070,119 (GRCm38) |
S2556C |
possibly damaging |
Het |
| Tc2n |
T |
C |
12: 101,694,592 (GRCm38) |
N127S |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,905,941 (GRCm38) |
P2618S |
probably benign |
Het |
| Thra |
T |
C |
11: 98,763,650 (GRCm38) |
V282A |
possibly damaging |
Het |
| Tmem161b |
A |
T |
13: 84,272,169 (GRCm38) |
|
probably null |
Het |
| Tmem218 |
C |
T |
9: 37,222,519 (GRCm38) |
A85V |
probably benign |
Het |
| Txnip |
T |
C |
3: 96,558,936 (GRCm38) |
Y100H |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,803,943 (GRCm38) |
D728G |
possibly damaging |
Het |
| Zfp462 |
T |
A |
4: 55,051,313 (GRCm38) |
I2262K |
probably damaging |
Het |
| Zfp804a |
A |
T |
2: 82,257,762 (GRCm38) |
D645V |
probably damaging |
Het |
|
| Other mutations in Ccdc162 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01013:Ccdc162
|
APN |
10 |
41,581,339 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01366:Ccdc162
|
APN |
10 |
41,580,306 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL01924:Ccdc162
|
APN |
10 |
41,569,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02504:Ccdc162
|
APN |
10 |
41,552,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02678:Ccdc162
|
APN |
10 |
41,561,155 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02955:Ccdc162
|
APN |
10 |
41,561,127 (GRCm38) |
missense |
probably damaging |
1.00 |
|
beeswax
|
UTSW |
10 |
41,561,226 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
honeycomb
|
UTSW |
10 |
41,644,641 (GRCm38) |
missense |
probably benign |
0.35 |
|
FR4304:Ccdc162
|
UTSW |
10 |
41,556,121 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0432:Ccdc162
|
UTSW |
10 |
41,541,860 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0585:Ccdc162
|
UTSW |
10 |
41,586,379 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0645:Ccdc162
|
UTSW |
10 |
41,586,411 (GRCm38) |
splice site |
probably benign |
|
|
R0731:Ccdc162
|
UTSW |
10 |
41,579,143 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1426:Ccdc162
|
UTSW |
10 |
41,553,182 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1447:Ccdc162
|
UTSW |
10 |
41,580,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1712:Ccdc162
|
UTSW |
10 |
41,539,431 (GRCm38) |
missense |
probably benign |
0.35 |
|
R2138:Ccdc162
|
UTSW |
10 |
41,581,297 (GRCm38) |
missense |
probably benign |
0.15 |
|
R2351:Ccdc162
|
UTSW |
10 |
41,555,972 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2394:Ccdc162
|
UTSW |
10 |
41,569,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2431:Ccdc162
|
UTSW |
10 |
41,569,845 (GRCm38) |
missense |
probably benign |
|
|
R2571:Ccdc162
|
UTSW |
10 |
41,552,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2873:Ccdc162
|
UTSW |
10 |
41,655,099 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R2926:Ccdc162
|
UTSW |
10 |
41,561,207 (GRCm38) |
start gained |
probably benign |
|
|
R2999:Ccdc162
|
UTSW |
10 |
41,580,290 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3412:Ccdc162
|
UTSW |
10 |
41,539,549 (GRCm38) |
splice site |
probably benign |
|
|
R3712:Ccdc162
|
UTSW |
10 |
41,587,379 (GRCm38) |
missense |
probably benign |
|
|
R3736:Ccdc162
|
UTSW |
10 |
41,589,568 (GRCm38) |
splice site |
probably null |
|
|
R4112:Ccdc162
|
UTSW |
10 |
41,656,328 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R4557:Ccdc162
|
UTSW |
10 |
41,587,388 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4580:Ccdc162
|
UTSW |
10 |
41,561,140 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4685:Ccdc162
|
UTSW |
10 |
41,681,686 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4837:Ccdc162
|
UTSW |
10 |
41,673,867 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5155:Ccdc162
|
UTSW |
10 |
41,579,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5155:Ccdc162
|
UTSW |
10 |
41,553,580 (GRCm38) |
splice site |
probably null |
|
|
R5645:Ccdc162
|
UTSW |
10 |
41,552,356 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5656:Ccdc162
|
UTSW |
10 |
41,569,934 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5682:Ccdc162
|
UTSW |
10 |
41,556,803 (GRCm38) |
nonsense |
probably null |
|
|
R5808:Ccdc162
|
UTSW |
10 |
41,655,504 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R5909:Ccdc162
|
UTSW |
10 |
41,561,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6000:Ccdc162
|
UTSW |
10 |
41,561,163 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R6057:Ccdc162
|
UTSW |
10 |
41,634,041 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R6211:Ccdc162
|
UTSW |
10 |
41,630,145 (GRCm38) |
nonsense |
probably null |
|
|
R6264:Ccdc162
|
UTSW |
10 |
41,694,468 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6329:Ccdc162
|
UTSW |
10 |
41,663,151 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R6349:Ccdc162
|
UTSW |
10 |
41,694,400 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6398:Ccdc162
|
UTSW |
10 |
41,627,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6453:Ccdc162
|
UTSW |
10 |
41,550,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6602:Ccdc162
|
UTSW |
10 |
41,615,980 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6627:Ccdc162
|
UTSW |
10 |
41,663,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6722:Ccdc162
|
UTSW |
10 |
41,644,641 (GRCm38) |
missense |
probably benign |
0.35 |
|
R6750:Ccdc162
|
UTSW |
10 |
41,561,226 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R6968:Ccdc162
|
UTSW |
10 |
41,673,844 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6970:Ccdc162
|
UTSW |
10 |
41,615,958 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6989:Ccdc162
|
UTSW |
10 |
41,581,353 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7008:Ccdc162
|
UTSW |
10 |
41,552,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7135:Ccdc162
|
UTSW |
10 |
41,673,859 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7139:Ccdc162
|
UTSW |
10 |
41,666,721 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R7224:Ccdc162
|
UTSW |
10 |
41,561,191 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7230:Ccdc162
|
UTSW |
10 |
41,678,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7256:Ccdc162
|
UTSW |
10 |
41,556,001 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7261:Ccdc162
|
UTSW |
10 |
41,561,140 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7390:Ccdc162
|
UTSW |
10 |
41,634,048 (GRCm38) |
missense |
probably benign |
|
|
R7712:Ccdc162
|
UTSW |
10 |
41,627,227 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R7726:Ccdc162
|
UTSW |
10 |
41,553,075 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7754:Ccdc162
|
UTSW |
10 |
41,587,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7764:Ccdc162
|
UTSW |
10 |
41,690,113 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8053:Ccdc162
|
UTSW |
10 |
41,644,581 (GRCm38) |
missense |
probably benign |
|
|
R8088:Ccdc162
|
UTSW |
10 |
41,623,414 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R8094:Ccdc162
|
UTSW |
10 |
41,612,868 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8097:Ccdc162
|
UTSW |
10 |
41,634,119 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8321:Ccdc162
|
UTSW |
10 |
41,634,033 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8377:Ccdc162
|
UTSW |
10 |
41,581,310 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8399:Ccdc162
|
UTSW |
10 |
41,539,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8772:Ccdc162
|
UTSW |
10 |
41,630,037 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8810:Ccdc162
|
UTSW |
10 |
41,666,741 (GRCm38) |
missense |
probably benign |
0.41 |
|
R8903:Ccdc162
|
UTSW |
10 |
41,655,444 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8928:Ccdc162
|
UTSW |
10 |
41,586,249 (GRCm38) |
splice site |
probably benign |
|
|
R8950:Ccdc162
|
UTSW |
10 |
41,598,511 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8960:Ccdc162
|
UTSW |
10 |
41,553,182 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8985:Ccdc162
|
UTSW |
10 |
41,556,106 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9071:Ccdc162
|
UTSW |
10 |
41,581,178 (GRCm38) |
nonsense |
probably null |
|
|
R9254:Ccdc162
|
UTSW |
10 |
41,612,948 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9297:Ccdc162
|
UTSW |
10 |
41,630,114 (GRCm38) |
missense |
probably benign |
|
|
R9318:Ccdc162
|
UTSW |
10 |
41,630,114 (GRCm38) |
missense |
probably benign |
|
|
R9518:Ccdc162
|
UTSW |
10 |
41,589,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9525:Ccdc162
|
UTSW |
10 |
41,683,226 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9539:Ccdc162
|
UTSW |
10 |
41,587,411 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R9638:Ccdc162
|
UTSW |
10 |
41,561,163 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1176:Ccdc162
|
UTSW |
10 |
41,654,997 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
Z1176:Ccdc162
|
UTSW |
10 |
41,605,108 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
Z1176:Ccdc162
|
UTSW |
10 |
41,553,131 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Ccdc162
|
UTSW |
10 |
41,690,092 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Ccdc162
|
UTSW |
10 |
41,683,195 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTTACCCACTTGTCCTGAG -3'
(R):5'- CCCTGTAGGCAGTGTGAAAG -3'
Sequencing Primer
(F):5'- CCTGAGTTTCTTTGGGAACTAAC -3'
(R):5'- GGTGAGGCCTTAGCTGAGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation