Incidental Mutation 'R5656:Ccdc162'
ID |
442336 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc162
|
Ensembl Gene |
ENSMUSG00000075225 |
Gene Name |
coiled-coil domain containing 162 |
Synonyms |
Gm29096, Gm6976, 5033413D22Rik |
MMRRC Submission |
043302-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R5656 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
41414838-41592586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41445930 bp (GRCm39)
|
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: 106,436,144 (GRCm39) |
S139G |
probably benign |
Het |
Adrb3 |
T |
C |
8: 27,717,405 (GRCm39) |
D348G |
probably damaging |
Het |
Atg2b |
A |
G |
12: 105,587,587 (GRCm39) |
V1959A |
probably benign |
Het |
Bicral |
G |
A |
17: 47,119,295 (GRCm39) |
T742M |
probably damaging |
Het |
Bub1b |
T |
A |
2: 118,435,912 (GRCm39) |
I60N |
probably damaging |
Het |
Cd22 |
T |
G |
7: 30,569,198 (GRCm39) |
Y612S |
probably damaging |
Het |
Cd68 |
T |
A |
11: 69,555,247 (GRCm39) |
I320F |
probably damaging |
Het |
Clca3a2 |
A |
T |
3: 144,503,393 (GRCm39) |
N852K |
probably benign |
Het |
Cpa6 |
T |
A |
1: 10,399,739 (GRCm39) |
H363L |
probably benign |
Het |
Ddx18 |
A |
T |
1: 121,489,087 (GRCm39) |
L320Q |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,421,210 (GRCm39) |
D3849G |
probably benign |
Het |
Eci1 |
T |
A |
17: 24,656,283 (GRCm39) |
N164K |
probably damaging |
Het |
Efs |
T |
C |
14: 55,154,584 (GRCm39) |
T552A |
probably damaging |
Het |
Fbp1 |
C |
A |
13: 63,023,010 (GRCm39) |
V96L |
probably damaging |
Het |
Gtf3c1 |
T |
A |
7: 125,261,826 (GRCm39) |
N1139I |
probably benign |
Het |
Gucy1b2 |
T |
C |
14: 62,660,430 (GRCm39) |
Y152C |
probably damaging |
Het |
Gxylt1 |
A |
T |
15: 93,143,542 (GRCm39) |
L362Q |
probably damaging |
Het |
Iqcd |
A |
G |
5: 120,743,191 (GRCm39) |
|
probably null |
Het |
Klhl41 |
T |
A |
2: 69,513,876 (GRCm39) |
I585N |
possibly damaging |
Het |
Map6 |
A |
G |
7: 98,985,505 (GRCm39) |
K470E |
probably damaging |
Het |
Mast3 |
T |
C |
8: 71,238,865 (GRCm39) |
T496A |
probably damaging |
Het |
Mbd6 |
A |
T |
10: 127,121,155 (GRCm39) |
|
probably benign |
Het |
Melk |
A |
G |
4: 44,312,237 (GRCm39) |
K183R |
possibly damaging |
Het |
Mta1 |
T |
C |
12: 113,086,759 (GRCm39) |
V152A |
probably damaging |
Het |
Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
Nav3 |
A |
C |
10: 109,600,494 (GRCm39) |
S1378A |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
Nlrp4f |
G |
A |
13: 65,338,685 (GRCm39) |
R651* |
probably null |
Het |
Or1e1f |
T |
A |
11: 73,855,536 (GRCm39) |
M34K |
probably damaging |
Het |
Or5b121 |
A |
G |
19: 13,507,744 (GRCm39) |
T280A |
probably benign |
Het |
Or5p72 |
A |
G |
7: 108,021,825 (GRCm39) |
I16V |
probably benign |
Het |
P2rx7 |
A |
T |
5: 122,811,780 (GRCm39) |
R364W |
probably damaging |
Het |
Phactr2 |
T |
C |
10: 13,264,447 (GRCm39) |
D2G |
probably benign |
Het |
Phc3 |
G |
T |
3: 31,020,015 (GRCm39) |
S28R |
probably damaging |
Het |
Ppfia1 |
A |
T |
7: 144,073,711 (GRCm39) |
|
probably null |
Het |
Prdm10 |
C |
T |
9: 31,264,713 (GRCm39) |
T667M |
probably benign |
Het |
Pwwp2b |
T |
A |
7: 138,835,887 (GRCm39) |
S443T |
possibly damaging |
Het |
Pzp |
T |
C |
6: 128,467,035 (GRCm39) |
T1113A |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,526,962 (GRCm39) |
E551G |
possibly damaging |
Het |
Sec23ip |
A |
G |
7: 128,378,508 (GRCm39) |
Y774C |
probably damaging |
Het |
Setdb2 |
T |
C |
14: 59,656,567 (GRCm39) |
D266G |
probably damaging |
Het |
Shank1 |
T |
C |
7: 44,002,310 (GRCm39) |
V1343A |
probably benign |
Het |
Slf2 |
T |
A |
19: 44,961,674 (GRCm39) |
D1064E |
probably benign |
Het |
Slu7 |
A |
G |
11: 43,334,245 (GRCm39) |
K424E |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,753,887 (GRCm39) |
|
probably benign |
Het |
Sptlc2 |
A |
T |
12: 87,393,535 (GRCm39) |
L264Q |
probably damaging |
Het |
Sra1 |
A |
G |
18: 36,811,460 (GRCm39) |
S93P |
probably damaging |
Het |
Sult1c2 |
T |
C |
17: 54,271,680 (GRCm39) |
E169G |
probably benign |
Het |
Sv2a |
A |
G |
3: 96,092,888 (GRCm39) |
D196G |
probably damaging |
Het |
Tbc1d22b |
A |
G |
17: 29,813,754 (GRCm39) |
I362M |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,681,797 (GRCm39) |
D2611G |
probably damaging |
Het |
Tmem43 |
T |
C |
6: 91,457,690 (GRCm39) |
F191L |
probably benign |
Het |
Trbv13-2 |
T |
A |
6: 41,098,628 (GRCm39) |
Y68N |
probably benign |
Het |
Ttn |
T |
G |
2: 76,604,998 (GRCm39) |
D18312A |
possibly damaging |
Het |
Ublcp1 |
A |
G |
11: 44,356,433 (GRCm39) |
V95A |
probably damaging |
Het |
Usp17ld |
A |
G |
7: 102,900,047 (GRCm39) |
V295A |
probably damaging |
Het |
Vmn1r29 |
T |
A |
6: 58,285,152 (GRCm39) |
L291M |
possibly damaging |
Het |
Vsig10l |
C |
T |
7: 43,113,575 (GRCm39) |
R176* |
probably null |
Het |
Zbtb46 |
A |
G |
2: 181,065,210 (GRCm39) |
|
probably null |
Het |
Zfp644 |
A |
G |
5: 106,785,848 (GRCm39) |
V233A |
probably benign |
Het |
|
Other mutations in Ccdc162 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01013:Ccdc162
|
APN |
10 |
41,457,335 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01366:Ccdc162
|
APN |
10 |
41,456,302 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01924:Ccdc162
|
APN |
10 |
41,445,883 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02504:Ccdc162
|
APN |
10 |
41,428,384 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02678:Ccdc162
|
APN |
10 |
41,437,151 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02955:Ccdc162
|
APN |
10 |
41,437,123 (GRCm39) |
missense |
probably damaging |
1.00 |
beeswax
|
UTSW |
10 |
41,437,222 (GRCm39) |
missense |
possibly damaging |
0.57 |
honeycomb
|
UTSW |
10 |
41,520,637 (GRCm39) |
missense |
probably benign |
0.35 |
FR4304:Ccdc162
|
UTSW |
10 |
41,432,117 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0432:Ccdc162
|
UTSW |
10 |
41,417,856 (GRCm39) |
missense |
probably benign |
0.01 |
R0585:Ccdc162
|
UTSW |
10 |
41,462,375 (GRCm39) |
missense |
probably benign |
0.03 |
R0645:Ccdc162
|
UTSW |
10 |
41,462,407 (GRCm39) |
splice site |
probably benign |
|
R0731:Ccdc162
|
UTSW |
10 |
41,455,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R1426:Ccdc162
|
UTSW |
10 |
41,429,178 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1447:Ccdc162
|
UTSW |
10 |
41,456,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R1712:Ccdc162
|
UTSW |
10 |
41,415,427 (GRCm39) |
missense |
probably benign |
0.35 |
R2138:Ccdc162
|
UTSW |
10 |
41,457,293 (GRCm39) |
missense |
probably benign |
0.15 |
R2351:Ccdc162
|
UTSW |
10 |
41,431,968 (GRCm39) |
critical splice donor site |
probably null |
|
R2394:Ccdc162
|
UTSW |
10 |
41,445,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R2431:Ccdc162
|
UTSW |
10 |
41,445,841 (GRCm39) |
missense |
probably benign |
|
R2571:Ccdc162
|
UTSW |
10 |
41,428,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R2873:Ccdc162
|
UTSW |
10 |
41,531,095 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2926:Ccdc162
|
UTSW |
10 |
41,437,203 (GRCm39) |
start gained |
probably benign |
|
R2999:Ccdc162
|
UTSW |
10 |
41,456,286 (GRCm39) |
missense |
probably benign |
0.00 |
R3412:Ccdc162
|
UTSW |
10 |
41,415,545 (GRCm39) |
splice site |
probably benign |
|
R3712:Ccdc162
|
UTSW |
10 |
41,463,375 (GRCm39) |
missense |
probably benign |
|
R3736:Ccdc162
|
UTSW |
10 |
41,465,564 (GRCm39) |
splice site |
probably null |
|
R4112:Ccdc162
|
UTSW |
10 |
41,532,324 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4557:Ccdc162
|
UTSW |
10 |
41,463,384 (GRCm39) |
missense |
probably benign |
0.01 |
R4580:Ccdc162
|
UTSW |
10 |
41,437,136 (GRCm39) |
missense |
probably benign |
0.02 |
R4685:Ccdc162
|
UTSW |
10 |
41,557,682 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4837:Ccdc162
|
UTSW |
10 |
41,549,863 (GRCm39) |
missense |
probably benign |
0.00 |
R5155:Ccdc162
|
UTSW |
10 |
41,455,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R5155:Ccdc162
|
UTSW |
10 |
41,429,576 (GRCm39) |
splice site |
probably null |
|
R5645:Ccdc162
|
UTSW |
10 |
41,428,352 (GRCm39) |
missense |
probably benign |
0.06 |
R5682:Ccdc162
|
UTSW |
10 |
41,432,799 (GRCm39) |
nonsense |
probably null |
|
R5808:Ccdc162
|
UTSW |
10 |
41,531,500 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5909:Ccdc162
|
UTSW |
10 |
41,437,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R6000:Ccdc162
|
UTSW |
10 |
41,437,159 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6057:Ccdc162
|
UTSW |
10 |
41,510,037 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6211:Ccdc162
|
UTSW |
10 |
41,506,141 (GRCm39) |
nonsense |
probably null |
|
R6264:Ccdc162
|
UTSW |
10 |
41,570,464 (GRCm39) |
missense |
probably benign |
0.31 |
R6329:Ccdc162
|
UTSW |
10 |
41,539,147 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6349:Ccdc162
|
UTSW |
10 |
41,570,396 (GRCm39) |
missense |
probably damaging |
0.97 |
R6398:Ccdc162
|
UTSW |
10 |
41,503,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R6453:Ccdc162
|
UTSW |
10 |
41,426,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R6602:Ccdc162
|
UTSW |
10 |
41,491,976 (GRCm39) |
missense |
probably benign |
0.00 |
R6627:Ccdc162
|
UTSW |
10 |
41,539,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R6722:Ccdc162
|
UTSW |
10 |
41,520,637 (GRCm39) |
missense |
probably benign |
0.35 |
R6750:Ccdc162
|
UTSW |
10 |
41,437,222 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6968:Ccdc162
|
UTSW |
10 |
41,549,840 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6970:Ccdc162
|
UTSW |
10 |
41,491,954 (GRCm39) |
missense |
probably benign |
0.03 |
R6989:Ccdc162
|
UTSW |
10 |
41,457,349 (GRCm39) |
missense |
probably damaging |
0.99 |
R7008:Ccdc162
|
UTSW |
10 |
41,428,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R7135:Ccdc162
|
UTSW |
10 |
41,549,855 (GRCm39) |
missense |
probably benign |
0.00 |
R7139:Ccdc162
|
UTSW |
10 |
41,542,717 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7224:Ccdc162
|
UTSW |
10 |
41,437,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R7230:Ccdc162
|
UTSW |
10 |
41,554,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R7256:Ccdc162
|
UTSW |
10 |
41,431,997 (GRCm39) |
missense |
probably damaging |
0.99 |
R7261:Ccdc162
|
UTSW |
10 |
41,437,136 (GRCm39) |
missense |
probably benign |
0.02 |
R7390:Ccdc162
|
UTSW |
10 |
41,510,044 (GRCm39) |
missense |
probably benign |
|
R7712:Ccdc162
|
UTSW |
10 |
41,503,223 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7726:Ccdc162
|
UTSW |
10 |
41,429,071 (GRCm39) |
missense |
probably benign |
0.00 |
R7754:Ccdc162
|
UTSW |
10 |
41,463,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R7764:Ccdc162
|
UTSW |
10 |
41,566,109 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8053:Ccdc162
|
UTSW |
10 |
41,520,577 (GRCm39) |
missense |
probably benign |
|
R8088:Ccdc162
|
UTSW |
10 |
41,499,410 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8094:Ccdc162
|
UTSW |
10 |
41,488,864 (GRCm39) |
missense |
probably benign |
0.02 |
R8097:Ccdc162
|
UTSW |
10 |
41,510,115 (GRCm39) |
missense |
probably benign |
0.03 |
R8321:Ccdc162
|
UTSW |
10 |
41,510,029 (GRCm39) |
missense |
probably damaging |
0.98 |
R8377:Ccdc162
|
UTSW |
10 |
41,457,306 (GRCm39) |
missense |
probably benign |
0.08 |
R8399:Ccdc162
|
UTSW |
10 |
41,415,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R8669:Ccdc162
|
UTSW |
10 |
41,428,352 (GRCm39) |
missense |
probably benign |
0.06 |
R8772:Ccdc162
|
UTSW |
10 |
41,506,033 (GRCm39) |
missense |
probably damaging |
0.99 |
R8810:Ccdc162
|
UTSW |
10 |
41,542,737 (GRCm39) |
missense |
probably benign |
0.41 |
R8903:Ccdc162
|
UTSW |
10 |
41,531,440 (GRCm39) |
critical splice donor site |
probably null |
|
R8928:Ccdc162
|
UTSW |
10 |
41,462,245 (GRCm39) |
splice site |
probably benign |
|
R8950:Ccdc162
|
UTSW |
10 |
41,474,507 (GRCm39) |
missense |
probably benign |
0.00 |
R8960:Ccdc162
|
UTSW |
10 |
41,429,178 (GRCm39) |
missense |
probably damaging |
0.96 |
R8985:Ccdc162
|
UTSW |
10 |
41,432,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R9071:Ccdc162
|
UTSW |
10 |
41,457,174 (GRCm39) |
nonsense |
probably null |
|
R9254:Ccdc162
|
UTSW |
10 |
41,488,944 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9297:Ccdc162
|
UTSW |
10 |
41,506,110 (GRCm39) |
missense |
probably benign |
|
R9318:Ccdc162
|
UTSW |
10 |
41,506,110 (GRCm39) |
missense |
probably benign |
|
R9518:Ccdc162
|
UTSW |
10 |
41,465,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R9525:Ccdc162
|
UTSW |
10 |
41,559,222 (GRCm39) |
missense |
probably damaging |
0.99 |
R9539:Ccdc162
|
UTSW |
10 |
41,463,407 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9638:Ccdc162
|
UTSW |
10 |
41,437,159 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Ccdc162
|
UTSW |
10 |
41,530,993 (GRCm39) |
missense |
possibly damaging |
0.84 |
Z1176:Ccdc162
|
UTSW |
10 |
41,481,104 (GRCm39) |
missense |
possibly damaging |
0.84 |
Z1176:Ccdc162
|
UTSW |
10 |
41,429,127 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Ccdc162
|
UTSW |
10 |
41,566,088 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Ccdc162
|
UTSW |
10 |
41,559,191 (GRCm39) |
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 |