Incidental Mutation 'R8053:Ccdc162'
ID |
619195 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc162
|
Ensembl Gene |
ENSMUSG00000075225 |
Gene Name |
coiled-coil domain containing 162 |
Synonyms |
Gm29096, Gm6976, 5033413D22Rik |
MMRRC Submission |
067490-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R8053 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
41414838-41592586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 41520577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 693
(G693V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019955]
[ENSMUST00000099932]
[ENSMUST00000189488]
[ENSMUST00000190522]
|
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 |
probably benign
Transcript: ENSMUST00000099932
|
SMART Domains |
Protein: ENSMUSP00000097516 Gene: ENSMUSG00000075225
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 |
probably benign
Transcript: ENSMUST00000189488
AA Change: G693V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140774 Gene: ENSMUSG00000075225 AA Change: G693V
Domain | Start | End | E-Value | Type |
low complexity region
|
328 |
347 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190522
|
SMART Domains |
Protein: ENSMUSP00000140852 Gene: ENSMUSG00000100855
Domain | Start | End | E-Value | Type |
Pfam:DUF4549
|
2 |
145 |
7.9e-74 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190522
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730507C01Rik |
C |
T |
12: 18,583,728 (GRCm39) |
R263* |
probably null |
Het |
Abca12 |
G |
A |
1: 71,388,328 (GRCm39) |
R181* |
probably null |
Het |
Adar |
T |
C |
3: 89,654,592 (GRCm39) |
L908P |
probably damaging |
Het |
Ankrd55 |
C |
T |
13: 112,459,687 (GRCm39) |
R94C |
probably damaging |
Het |
Aopep |
A |
T |
13: 63,338,345 (GRCm39) |
K574* |
probably null |
Het |
Carf |
A |
T |
1: 60,167,197 (GRCm39) |
T177S |
probably benign |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Chd4 |
G |
T |
6: 125,105,779 (GRCm39) |
E1799* |
probably null |
Het |
Chrna3 |
T |
A |
9: 54,922,674 (GRCm39) |
N378I |
probably benign |
Het |
Clec4a2 |
T |
C |
6: 123,104,998 (GRCm39) |
V96A |
probably benign |
Het |
Cntnap5b |
T |
A |
1: 100,318,402 (GRCm39) |
L683Q |
probably damaging |
Het |
Crisp4 |
T |
A |
1: 18,194,498 (GRCm39) |
Q208L |
probably benign |
Het |
Crocc |
A |
G |
4: 140,770,230 (GRCm39) |
|
probably null |
Het |
Cyp2ab1 |
T |
C |
16: 20,133,018 (GRCm39) |
E192G |
probably benign |
Het |
Cyrib |
T |
C |
15: 63,813,832 (GRCm39) |
D155G |
probably damaging |
Het |
Daglb |
A |
G |
5: 143,489,024 (GRCm39) |
K627R |
probably benign |
Het |
Desi2 |
G |
A |
1: 178,065,482 (GRCm39) |
W16* |
probably null |
Het |
Dtx3l |
T |
C |
16: 35,759,322 (GRCm39) |
|
probably benign |
Het |
Elf2 |
A |
G |
3: 51,215,551 (GRCm39) |
V53A |
possibly damaging |
Het |
Eomes |
A |
G |
9: 118,309,621 (GRCm39) |
D325G |
probably damaging |
Het |
Etl4 |
A |
T |
2: 20,666,774 (GRCm39) |
L60F |
probably damaging |
Het |
Exoc4 |
A |
G |
6: 33,309,191 (GRCm39) |
D271G |
probably benign |
Het |
F5 |
A |
G |
1: 164,020,338 (GRCm39) |
I938V |
probably benign |
Het |
Fdxr |
T |
A |
11: 115,160,665 (GRCm39) |
K290M |
probably benign |
Het |
Fgd5 |
G |
A |
6: 91,966,425 (GRCm39) |
S886N |
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,662,954 (GRCm39) |
S242F |
unknown |
Het |
Gm14322 |
A |
T |
2: 177,411,424 (GRCm39) |
Q78L |
probably damaging |
Het |
Gm8267 |
A |
T |
14: 44,962,307 (GRCm39) |
S38T |
possibly damaging |
Het |
Gpr75 |
A |
T |
11: 30,841,559 (GRCm39) |
T155S |
probably benign |
Het |
Hectd3 |
T |
C |
4: 116,858,055 (GRCm39) |
S628P |
possibly damaging |
Het |
Hrh2 |
A |
G |
13: 54,368,104 (GRCm39) |
T27A |
probably benign |
Het |
Kif16b |
G |
A |
2: 142,695,634 (GRCm39) |
R157C |
probably damaging |
Het |
Krt16 |
T |
C |
11: 100,137,613 (GRCm39) |
Y364C |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,495,392 (GRCm39) |
K2809I |
unknown |
Het |
Map2k5 |
T |
A |
9: 63,250,707 (GRCm39) |
N95I |
probably benign |
Het |
Melk |
A |
G |
4: 44,318,109 (GRCm39) |
Y170C |
probably damaging |
Het |
Mthfd1 |
T |
A |
12: 76,327,282 (GRCm39) |
D123E |
probably damaging |
Het |
Muc2 |
A |
T |
7: 141,284,575 (GRCm39) |
Y827F |
probably benign |
Het |
Myh15 |
T |
A |
16: 48,963,302 (GRCm39) |
M1081K |
possibly damaging |
Het |
Nbeal1 |
A |
G |
1: 60,318,954 (GRCm39) |
T1998A |
probably damaging |
Het |
Neb |
T |
A |
2: 52,176,029 (GRCm39) |
T1477S |
possibly damaging |
Het |
Nox4 |
C |
A |
7: 87,019,255 (GRCm39) |
P416Q |
probably damaging |
Het |
Or10ak7 |
A |
G |
4: 118,791,308 (GRCm39) |
S246P |
probably damaging |
Het |
Or1e31 |
T |
C |
11: 73,689,822 (GRCm39) |
T254A |
probably benign |
Het |
Or2j3 |
A |
T |
17: 38,616,101 (GRCm39) |
F84I |
probably benign |
Het |
Or4c123 |
A |
T |
2: 89,127,540 (GRCm39) |
F25I |
possibly damaging |
Het |
Or5g23 |
T |
C |
2: 85,439,234 (GRCm39) |
T7A |
probably damaging |
Het |
Pcdhga4 |
A |
G |
18: 37,819,308 (GRCm39) |
K286E |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,193,604 (GRCm39) |
T679A |
probably benign |
Het |
Phc2 |
C |
T |
4: 128,603,433 (GRCm39) |
Q188* |
probably null |
Het |
Pramel12 |
C |
A |
4: 143,144,208 (GRCm39) |
Q185K |
probably benign |
Het |
Prdm15 |
A |
G |
16: 97,636,807 (GRCm39) |
M170T |
probably benign |
Het |
Rab20 |
G |
T |
8: 11,504,443 (GRCm39) |
Q86K |
probably damaging |
Het |
Rev1 |
T |
C |
1: 38,102,222 (GRCm39) |
I714V |
possibly damaging |
Het |
Rexo2 |
A |
G |
9: 48,386,418 (GRCm39) |
|
probably null |
Het |
Rnf213 |
A |
G |
11: 119,293,473 (GRCm39) |
K75E |
|
Het |
Sdk2 |
C |
T |
11: 113,745,177 (GRCm39) |
R706Q |
probably damaging |
Het |
Sema3c |
C |
T |
5: 17,860,020 (GRCm39) |
T95I |
probably benign |
Het |
Sh3rf2 |
T |
A |
18: 42,286,087 (GRCm39) |
S527T |
probably damaging |
Het |
Sis |
A |
T |
3: 72,856,901 (GRCm39) |
Y434* |
probably null |
Het |
Slc16a6 |
G |
A |
11: 109,349,395 (GRCm39) |
T222I |
probably damaging |
Het |
Smad6 |
A |
G |
9: 63,927,789 (GRCm39) |
L173P |
probably damaging |
Het |
Sugct |
T |
A |
13: 17,476,554 (GRCm39) |
N310I |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,002,658 (GRCm39) |
K259* |
probably null |
Het |
Taar6 |
A |
G |
10: 23,861,144 (GRCm39) |
V134A |
possibly damaging |
Het |
Tmem199 |
A |
G |
11: 78,398,612 (GRCm39) |
I184T |
possibly damaging |
Het |
Tnrc18 |
G |
T |
5: 142,736,385 (GRCm39) |
D1530E |
unknown |
Het |
Tnxb |
G |
A |
17: 34,923,153 (GRCm39) |
V2579M |
probably damaging |
Het |
Vangl2 |
A |
G |
1: 171,832,303 (GRCm39) |
F518L |
probably damaging |
Het |
Vmn2r40 |
T |
C |
7: 8,911,245 (GRCm39) |
T683A |
|
Het |
Wapl |
C |
T |
14: 34,414,278 (GRCm39) |
T380I |
probably damaging |
Het |
Zfp874b |
A |
T |
13: 67,622,217 (GRCm39) |
H360Q |
probably damaging |
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 |
R5656:Ccdc162
|
UTSW |
10 |
41,445,930 (GRCm39) |
missense |
probably benign |
0.26 |
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 |
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'- GAGCTCTGAAACAGCACCTAGC -3'
(R):5'- AGACAGGGCACTTTTCGAAGG -3'
Sequencing Primer
(F):5'- GCAAGGTCAATTTTTAACTTTGCTG -3'
(R):5'- GAAGGCGTGTCTCTAACCATTC -3'
|
Posted On |
2020-01-23 |