Incidental Mutation 'R6989:Ccdc162'
ID |
543149 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc162
|
Ensembl Gene |
ENSMUSG00000075225 |
Gene Name |
coiled-coil domain containing 162 |
Synonyms |
Gm29096, Gm6976, 5033413D22Rik |
MMRRC Submission |
045095-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R6989 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
41414838-41592586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 41457349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 256
(Q256H)
|
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 |
probably benign
Transcript: ENSMUST00000095227
|
SMART Domains |
Protein: ENSMUSP00000092852 Gene: ENSMUSG00000075225
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: Q66H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000097516 Gene: ENSMUSG00000075225 AA Change: Q66H
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 damaging
Transcript: ENSMUST00000179614
AA Change: Q256H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000135966 Gene: ENSMUSG00000075225 AA Change: Q256H
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: Q1529H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140774 Gene: ENSMUSG00000075225 AA Change: Q1529H
Domain | Start | End | E-Value | Type |
low complexity region
|
328 |
347 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219054
AA Change: Q256H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921536K21Rik |
C |
T |
11: 3,840,076 (GRCm39) |
R107H |
probably damaging |
Het |
4930438A08Rik |
T |
C |
11: 58,178,228 (GRCm39) |
V96A |
possibly damaging |
Het |
Abcc2 |
A |
G |
19: 43,820,611 (GRCm39) |
D1370G |
probably damaging |
Het |
Abcc9 |
T |
A |
6: 142,634,707 (GRCm39) |
N186Y |
probably damaging |
Het |
Adcy7 |
T |
C |
8: 89,035,414 (GRCm39) |
V106A |
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,164,226 (GRCm39) |
F251S |
probably damaging |
Het |
Akr1c6 |
T |
A |
13: 4,499,045 (GRCm39) |
I33N |
probably damaging |
Het |
Alk |
A |
C |
17: 72,204,947 (GRCm39) |
M1075R |
probably benign |
Het |
Amh |
A |
G |
10: 80,641,338 (GRCm39) |
Q86R |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,124,611 (GRCm39) |
Y951H |
probably damaging |
Het |
Arhgap26 |
G |
T |
18: 39,232,682 (GRCm39) |
R119L |
probably damaging |
Het |
Arl8a |
A |
G |
1: 135,074,735 (GRCm39) |
K7R |
probably benign |
Het |
Birc6 |
T |
G |
17: 74,937,984 (GRCm39) |
S2638A |
probably benign |
Het |
Cenpe |
T |
A |
3: 134,940,888 (GRCm39) |
L679Q |
probably damaging |
Het |
Cpa5 |
T |
A |
6: 30,625,891 (GRCm39) |
H203Q |
probably benign |
Het |
Cpne9 |
A |
T |
6: 113,277,544 (GRCm39) |
D421V |
possibly damaging |
Het |
Cux1 |
A |
T |
5: 136,308,502 (GRCm39) |
C1212* |
probably null |
Het |
Dock9 |
G |
A |
14: 121,864,791 (GRCm39) |
H736Y |
probably damaging |
Het |
Dpp3 |
A |
T |
19: 4,971,195 (GRCm39) |
V214E |
probably damaging |
Het |
Dtx3 |
T |
C |
10: 127,028,746 (GRCm39) |
E161G |
probably benign |
Het |
Ect2 |
A |
T |
3: 27,156,637 (GRCm39) |
Y774* |
probably null |
Het |
Enpep |
G |
T |
3: 129,074,599 (GRCm39) |
P717H |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,469,314 (GRCm39) |
|
probably benign |
Het |
Fbp2 |
C |
T |
13: 63,005,991 (GRCm39) |
A41T |
probably damaging |
Het |
Fbxl21 |
T |
C |
13: 56,674,874 (GRCm39) |
V75A |
probably damaging |
Het |
Fkbp5 |
C |
T |
17: 28,634,919 (GRCm39) |
D197N |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,807,298 (GRCm39) |
T1206A |
probably benign |
Het |
Ggt7 |
A |
G |
2: 155,345,380 (GRCm39) |
V156A |
probably benign |
Het |
Gpi1 |
T |
C |
7: 33,901,945 (GRCm39) |
K156R |
probably damaging |
Het |
Gpx5 |
T |
C |
13: 21,471,669 (GRCm39) |
D178G |
probably damaging |
Het |
Grm7 |
G |
A |
6: 111,184,766 (GRCm39) |
E366K |
probably damaging |
Het |
Haao |
T |
C |
17: 84,139,103 (GRCm39) |
Q277R |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,060,753 (GRCm39) |
S694P |
|
Het |
Lrp10 |
A |
G |
14: 54,705,950 (GRCm39) |
D380G |
probably benign |
Het |
Lrp2 |
C |
A |
2: 69,302,799 (GRCm39) |
D2977Y |
probably damaging |
Het |
Map2 |
T |
A |
1: 66,454,065 (GRCm39) |
M985K |
probably benign |
Het |
Met |
C |
A |
6: 17,535,927 (GRCm39) |
N784K |
possibly damaging |
Het |
Met |
T |
A |
6: 17,535,928 (GRCm39) |
Y65N |
probably damaging |
Het |
Muc6 |
T |
G |
7: 141,226,246 (GRCm39) |
|
probably benign |
Het |
Numbl |
T |
A |
7: 26,980,265 (GRCm39) |
W416R |
probably damaging |
Het |
Nup160 |
G |
A |
2: 90,537,364 (GRCm39) |
S746N |
probably benign |
Het |
Pcca |
G |
A |
14: 122,887,700 (GRCm39) |
G102D |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,825,163 (GRCm39) |
Y493F |
possibly damaging |
Het |
Psmc2 |
T |
A |
5: 22,006,217 (GRCm39) |
F243L |
possibly damaging |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rpn1 |
G |
T |
6: 88,076,285 (GRCm39) |
V357L |
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,433,856 (GRCm39) |
F712S |
possibly damaging |
Het |
Scgb1b10 |
T |
A |
7: 31,800,574 (GRCm39) |
D54E |
probably benign |
Het |
Scn5a |
A |
G |
9: 119,315,395 (GRCm39) |
I1771T |
probably damaging |
Het |
Sec14l1 |
A |
G |
11: 117,047,220 (GRCm39) |
I633V |
probably damaging |
Het |
Slc17a6 |
T |
C |
7: 51,311,224 (GRCm39) |
Y313H |
possibly damaging |
Het |
Slc18a1 |
G |
A |
8: 69,491,514 (GRCm39) |
T500I |
probably benign |
Het |
Slx4 |
G |
A |
16: 3,813,702 (GRCm39) |
A93V |
probably damaging |
Het |
Stat4 |
T |
C |
1: 52,107,974 (GRCm39) |
S148P |
probably benign |
Het |
Tbc1d15 |
A |
T |
10: 115,045,474 (GRCm39) |
C497S |
probably damaging |
Het |
Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
Trav3-3 |
C |
A |
14: 53,903,802 (GRCm39) |
P40Q |
possibly damaging |
Het |
Trpv6 |
A |
T |
6: 41,602,390 (GRCm39) |
L332Q |
probably damaging |
Het |
Ube2t |
T |
G |
1: 134,897,033 (GRCm39) |
V55G |
probably damaging |
Het |
Ufm1 |
T |
C |
3: 53,765,402 (GRCm39) |
K69E |
probably damaging |
Het |
Utp20 |
T |
C |
10: 88,614,102 (GRCm39) |
D1284G |
probably benign |
Het |
Vil1 |
C |
T |
1: 74,463,113 (GRCm39) |
T432I |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,448,727 (GRCm39) |
I567K |
probably benign |
Het |
Zfp236 |
A |
T |
18: 82,646,488 (GRCm39) |
V1023D |
probably damaging |
Het |
Zfp429 |
A |
G |
13: 67,538,080 (GRCm39) |
Y455H |
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 |
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 |
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'- AACTGTCTATGCAGCAAGGC -3'
(R):5'- GAGACAGCTGTTTCTACCCTG -3'
Sequencing Primer
(F):5'- CAAGGCAGAGTTGATGTCCTGC -3'
(R):5'- TCTGGTCAGCAAGGATATTCAGCC -3'
|
Posted On |
2018-11-28 |