Incidental Mutation 'R5909:Ccdc162'
ID |
460859 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc162
|
Ensembl Gene |
ENSMUSG00000075225 |
Gene Name |
coiled-coil domain containing 162 |
Synonyms |
Gm29096, Gm6976, 5033413D22Rik |
MMRRC Submission |
044106-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R5909 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
41414838-41592586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41437111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 493
(E493G)
|
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: E116G
|
SMART Domains |
Protein: ENSMUSP00000092852 Gene: ENSMUSG00000075225 AA Change: E116G
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 damaging
Transcript: ENSMUST00000099932
AA Change: E303G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097516 Gene: ENSMUSG00000075225 AA Change: E303G
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: ENSMUST00000160002
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164074
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179614
AA Change: E493G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135966 Gene: ENSMUSG00000075225 AA Change: E493G
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 damaging
Transcript: ENSMUST00000189488
AA Change: E1766G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140774 Gene: ENSMUSG00000075225 AA Change: E1766G
Domain | Start | End | E-Value | Type |
low complexity region
|
328 |
347 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219054
AA Change: E493G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts8 |
T |
C |
9: 30,873,224 (GRCm39) |
S810P |
probably benign |
Het |
Adcy7 |
A |
T |
8: 89,052,124 (GRCm39) |
I931F |
probably damaging |
Het |
Alcam |
G |
T |
16: 52,111,356 (GRCm39) |
Q248K |
probably benign |
Het |
Astn1 |
A |
C |
1: 158,429,507 (GRCm39) |
R750S |
probably damaging |
Het |
Atp1a2 |
A |
T |
1: 172,114,797 (GRCm39) |
N329K |
probably damaging |
Het |
Bcl6 |
A |
G |
16: 23,791,556 (GRCm39) |
V266A |
probably benign |
Het |
Bdp1 |
A |
G |
13: 100,228,794 (GRCm39) |
V278A |
probably benign |
Het |
Cpvl |
T |
C |
6: 53,909,413 (GRCm39) |
Y241C |
probably damaging |
Het |
Ddx55 |
T |
C |
5: 124,704,913 (GRCm39) |
M390T |
probably benign |
Het |
Ero1b |
A |
G |
13: 12,594,139 (GRCm39) |
E102G |
probably benign |
Het |
Etnk1 |
A |
G |
6: 143,143,164 (GRCm39) |
D273G |
probably benign |
Het |
Exoc3 |
A |
G |
13: 74,347,643 (GRCm39) |
V109A |
probably damaging |
Het |
F830016B08Rik |
T |
A |
18: 60,433,091 (GRCm39) |
I58N |
probably damaging |
Het |
Fancd2 |
T |
A |
6: 113,538,672 (GRCm39) |
V589E |
probably benign |
Het |
Fbll1 |
G |
A |
11: 35,689,159 (GRCm39) |
R35C |
unknown |
Het |
Fnbp1 |
A |
G |
2: 30,938,211 (GRCm39) |
|
probably null |
Het |
Glce |
G |
T |
9: 61,967,426 (GRCm39) |
A575D |
probably damaging |
Het |
Ift20 |
T |
A |
11: 78,430,867 (GRCm39) |
M70K |
possibly damaging |
Het |
Impg2 |
T |
C |
16: 56,078,499 (GRCm39) |
V487A |
probably damaging |
Het |
Isx |
A |
G |
8: 75,619,426 (GRCm39) |
D206G |
probably benign |
Het |
Jak3 |
A |
G |
8: 72,136,875 (GRCm39) |
I684V |
possibly damaging |
Het |
Kdm5d |
G |
A |
Y: 941,306 (GRCm39) |
S1169N |
probably benign |
Het |
Krt35 |
A |
T |
11: 99,986,639 (GRCm39) |
L125Q |
probably damaging |
Het |
Lama4 |
G |
A |
10: 38,948,855 (GRCm39) |
A873T |
probably benign |
Het |
Lrch4 |
T |
C |
5: 137,632,127 (GRCm39) |
S74P |
possibly damaging |
Het |
Maneal |
A |
T |
4: 124,750,966 (GRCm39) |
Y263* |
probably null |
Het |
Mcat |
C |
T |
15: 83,432,116 (GRCm39) |
A251T |
probably benign |
Het |
Mup3 |
T |
G |
4: 62,004,244 (GRCm39) |
T90P |
probably benign |
Het |
Mybpc2 |
G |
A |
7: 44,156,515 (GRCm39) |
A812V |
probably damaging |
Het |
Naa15 |
T |
C |
3: 51,367,485 (GRCm39) |
F503L |
probably damaging |
Het |
Nudt8 |
T |
C |
19: 4,050,727 (GRCm39) |
L25S |
possibly damaging |
Het |
Oas1e |
A |
T |
5: 120,926,972 (GRCm39) |
V245D |
probably damaging |
Het |
Ofcc1 |
A |
G |
13: 40,417,054 (GRCm39) |
M109T |
possibly damaging |
Het |
Or4c58 |
A |
G |
2: 89,674,735 (GRCm39) |
V194A |
possibly damaging |
Het |
Or4p18 |
A |
T |
2: 88,232,535 (GRCm39) |
F248I |
probably damaging |
Het |
Phkb |
G |
T |
8: 86,748,076 (GRCm39) |
|
probably null |
Het |
Pidd1 |
A |
C |
7: 141,021,183 (GRCm39) |
L365R |
probably damaging |
Het |
Pira12 |
G |
A |
7: 3,900,621 (GRCm39) |
T43I |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,750,795 (GRCm39) |
R1739C |
probably benign |
Het |
Pkdrej |
A |
T |
15: 85,702,497 (GRCm39) |
D1146E |
possibly damaging |
Het |
Pkhd1l1 |
G |
T |
15: 44,390,159 (GRCm39) |
W1425L |
probably damaging |
Het |
Plxna4 |
A |
G |
6: 32,494,181 (GRCm39) |
L145P |
probably damaging |
Het |
Plxnd1 |
G |
T |
6: 115,945,649 (GRCm39) |
D941E |
probably benign |
Het |
Prdm13 |
G |
T |
4: 21,683,894 (GRCm39) |
Q126K |
unknown |
Het |
Rbm25 |
T |
A |
12: 83,728,362 (GRCm39) |
V837E |
probably damaging |
Het |
Rcc2 |
T |
A |
4: 140,444,379 (GRCm39) |
Y357N |
probably damaging |
Het |
Siglec1 |
A |
T |
2: 130,919,884 (GRCm39) |
N882K |
probably damaging |
Het |
Sox13 |
A |
G |
1: 133,311,627 (GRCm39) |
I535T |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,040,291 (GRCm39) |
S2408P |
probably benign |
Het |
Stat3 |
G |
A |
11: 100,794,556 (GRCm39) |
T251I |
probably benign |
Het |
Sulf1 |
A |
T |
1: 12,929,039 (GRCm39) |
D102V |
possibly damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tmem145 |
G |
T |
7: 25,007,618 (GRCm39) |
L208F |
possibly damaging |
Het |
Trim17 |
A |
T |
11: 58,859,506 (GRCm39) |
E240V |
probably damaging |
Het |
Trim43b |
A |
T |
9: 88,967,451 (GRCm39) |
I395K |
possibly damaging |
Het |
Trmt61a |
C |
A |
12: 111,647,292 (GRCm39) |
H130N |
probably damaging |
Het |
Unc5b |
A |
C |
10: 60,608,138 (GRCm39) |
L654R |
probably damaging |
Het |
Vmn1r66 |
A |
T |
7: 10,008,269 (GRCm39) |
S255T |
probably benign |
Het |
Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
Zbtb10 |
T |
C |
3: 9,345,109 (GRCm39) |
F677S |
probably benign |
Het |
Zfp493 |
T |
A |
13: 67,934,717 (GRCm39) |
C223* |
probably null |
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 |
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'- TCATCCATGCAAGGGAAGG -3'
(R):5'- CTGCTGGGAGACACATCATTC -3'
Sequencing Primer
(F):5'- GAAGAATCCTTCATCACGTGTC -3'
(R):5'- GGGAGACACATCATTCTCCTTTCAG -3'
|
Posted On |
2017-02-28 |