Incidental Mutation 'R5656:Ccdc162'
| ID |
442336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc162
|
| Ensembl Gene |
ENSMUSG00000075225 |
| Gene Name |
coiled-coil domain containing 162 |
| Synonyms |
5033413D22Rik |
| MMRRC Submission |
043302-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5656 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
41538846-41716634 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41569934 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 414
(V414A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151415
(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
|
| SMART Domains |
Protein: ENSMUSP00000019955
Gene: ENSMUSG00000075225
| 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 |
unknown
Transcript: ENSMUST00000095227
AA Change: V37A
|
| SMART Domains |
Protein: ENSMUSP00000092852
Gene: ENSMUSG00000075225
AA Change: V37A
| 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: V224A
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225
AA Change: V224A
| 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: ENSMUST00000170047
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179614
AA Change: V414A
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: V414A
| 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: V1687A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: V1687A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
328 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219054
AA Change: V414A
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 105,709,512 (GRCm38) |
S139G |
probably benign |
Het |
| Adrb3 |
T |
C |
8: 27,227,377 (GRCm38) |
D348G |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,621,328 (GRCm38) |
V1959A |
probably benign |
Het |
| Bicral |
G |
A |
17: 46,808,369 (GRCm38) |
T742M |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,605,431 (GRCm38) |
I60N |
probably damaging |
Het |
| Cd22 |
T |
G |
7: 30,869,773 (GRCm38) |
Y612S |
probably damaging |
Het |
| Cd68 |
T |
A |
11: 69,664,421 (GRCm38) |
I320F |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,797,632 (GRCm38) |
N852K |
probably benign |
Het |
| Cpa6 |
T |
A |
1: 10,329,514 (GRCm38) |
H363L |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,561,358 (GRCm38) |
L320Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,421,064 (GRCm38) |
D3849G |
probably benign |
Het |
| Eci1 |
T |
A |
17: 24,437,309 (GRCm38) |
N164K |
probably damaging |
Het |
| Efs |
T |
C |
14: 54,917,127 (GRCm38) |
T552A |
probably damaging |
Het |
| Fbp1 |
C |
A |
13: 62,875,196 (GRCm38) |
V96L |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,662,654 (GRCm38) |
N1139I |
probably benign |
Het |
| Gucy1b2 |
T |
C |
14: 62,422,981 (GRCm38) |
Y152C |
probably damaging |
Het |
| Gxylt1 |
A |
T |
15: 93,245,661 (GRCm38) |
L362Q |
probably damaging |
Het |
| Iqcd |
A |
G |
5: 120,605,126 (GRCm38) |
|
probably null |
Het |
| Klhl41 |
T |
A |
2: 69,683,532 (GRCm38) |
I585N |
possibly damaging |
Het |
| Map6 |
A |
G |
7: 99,336,298 (GRCm38) |
K470E |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 70,786,221 (GRCm38) |
T496A |
probably damaging |
Het |
| Mbd6 |
A |
T |
10: 127,285,286 (GRCm38) |
|
probably benign |
Het |
| Melk |
A |
G |
4: 44,312,237 (GRCm38) |
K183R |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,123,139 (GRCm38) |
V152A |
probably damaging |
Het |
| Naa35 |
G |
A |
13: 59,622,866 (GRCm38) |
|
probably benign |
Het |
| Nav3 |
A |
C |
10: 109,764,633 (GRCm38) |
S1378A |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 27,051,645 (GRCm38) |
D415E |
possibly damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,190,871 (GRCm38) |
R651* |
probably null |
Het |
| Olfr1480 |
A |
G |
19: 13,530,380 (GRCm38) |
T280A |
probably benign |
Het |
| Olfr397 |
T |
A |
11: 73,964,710 (GRCm38) |
M34K |
probably damaging |
Het |
| Olfr497 |
A |
G |
7: 108,422,618 (GRCm38) |
I16V |
probably benign |
Het |
| P2rx7 |
A |
T |
5: 122,673,717 (GRCm38) |
R364W |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,388,703 (GRCm38) |
D2G |
probably benign |
Het |
| Phc3 |
G |
T |
3: 30,965,866 (GRCm38) |
S28R |
probably damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,519,974 (GRCm38) |
|
probably null |
Het |
| Prdm10 |
C |
T |
9: 31,353,417 (GRCm38) |
T667M |
probably benign |
Het |
| Pwwp2b |
T |
A |
7: 139,255,971 (GRCm38) |
S443T |
possibly damaging |
Het |
| Pzp |
T |
C |
6: 128,490,072 (GRCm38) |
T1113A |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,636,136 (GRCm38) |
E551G |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,776,784 (GRCm38) |
Y774C |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,419,118 (GRCm38) |
D266G |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 44,352,886 (GRCm38) |
V1343A |
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,973,235 (GRCm38) |
D1064E |
probably benign |
Het |
| Slu7 |
A |
G |
11: 43,443,418 (GRCm38) |
K424E |
probably benign |
Het |
| Smg1 |
A |
T |
7: 118,154,664 (GRCm38) |
|
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,346,761 (GRCm38) |
L264Q |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,678,407 (GRCm38) |
S93P |
probably damaging |
Het |
| Sult1c1 |
T |
C |
17: 53,964,652 (GRCm38) |
E169G |
probably benign |
Het |
| Sv2a |
A |
G |
3: 96,185,572 (GRCm38) |
D196G |
probably damaging |
Het |
| Tbc1d22b |
A |
G |
17: 29,594,780 (GRCm38) |
I362M |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,228,762 (GRCm38) |
D2611G |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,480,708 (GRCm38) |
F191L |
probably benign |
Het |
| Trbv13-2 |
T |
A |
6: 41,121,694 (GRCm38) |
Y68N |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,774,654 (GRCm38) |
D18312A |
possibly damaging |
Het |
| Ublcp1 |
A |
G |
11: 44,465,606 (GRCm38) |
V95A |
probably damaging |
Het |
| Usp17ld |
A |
G |
7: 103,250,840 (GRCm38) |
V295A |
probably damaging |
Het |
| Vmn1r29 |
T |
A |
6: 58,308,167 (GRCm38) |
L291M |
possibly damaging |
Het |
| Vsig10l |
C |
T |
7: 43,464,151 (GRCm38) |
R176* |
probably null |
Het |
| Zbtb46 |
A |
G |
2: 181,423,417 (GRCm38) |
|
probably null |
Het |
| Zfp644 |
A |
G |
5: 106,637,982 (GRCm38) |
V233A |
probably benign |
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 |
|
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 |
|
R8669:Ccdc162
|
UTSW |
10 |
41,552,356 (GRCm38) |
missense |
probably benign |
0.06 |
|
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'- TCAGGAGTCACATCCTTAGGG -3'
(R):5'- TGTTCCAGAGGGTTCTATGTCC -3'
Sequencing Primer
(F):5'- TCACATCCTTAGGGAGAGTAAGAGC -3'
(R):5'- CCAGAGGGTTCTATGTCCTGACTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation