Incidental Mutation 'R9525:Ccdc162'
ID |
719158 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc162
|
Ensembl Gene |
ENSMUSG00000075225 |
Gene Name |
coiled-coil domain containing 162 |
Synonyms |
Gm29096, Gm6976, 5033413D22Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R9525 (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 A
at 41559222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 126
(R126W)
|
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 damaging
Transcript: ENSMUST00000189488
AA Change: R126W
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140774 Gene: ENSMUSG00000075225 AA Change: R126W
Domain | Start | End | E-Value | Type |
low complexity region
|
328 |
347 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190522
AA Change: R126W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140852 Gene: ENSMUSG00000100855 AA Change: R126W
Domain | Start | End | E-Value | Type |
Pfam:DUF4549
|
2 |
145 |
7.9e-74 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190522
AA Change: R126W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
T |
A |
4: 144,282,000 (GRCm39) |
D264V |
possibly damaging |
Het |
Adgrv1 |
C |
T |
13: 81,593,453 (GRCm39) |
G4178E |
possibly damaging |
Het |
Alpk2 |
A |
G |
18: 65,399,288 (GRCm39) |
Y2097H |
probably damaging |
Het |
Anapc2 |
T |
C |
2: 25,166,339 (GRCm39) |
S369P |
probably damaging |
Het |
Atr |
C |
T |
9: 95,792,610 (GRCm39) |
A1644V |
possibly damaging |
Het |
Camsap1 |
G |
A |
2: 25,843,962 (GRCm39) |
H230Y |
probably benign |
Het |
Cbx7 |
A |
C |
15: 79,814,797 (GRCm39) |
W35G |
probably damaging |
Het |
Cc2d2b |
T |
C |
19: 40,773,430 (GRCm39) |
Y498H |
probably damaging |
Het |
Cd274 |
T |
A |
19: 29,359,879 (GRCm39) |
L228Q |
probably benign |
Het |
Cfap57 |
A |
T |
4: 118,433,778 (GRCm39) |
I1000N |
probably damaging |
Het |
Cfhr4 |
G |
T |
1: 139,702,250 (GRCm39) |
T78K |
probably damaging |
Het |
Chadl |
C |
A |
15: 81,578,220 (GRCm39) |
G470C |
probably damaging |
Het |
Clasp2 |
T |
C |
9: 113,740,677 (GRCm39) |
L1217P |
probably damaging |
Het |
Crnkl1 |
A |
G |
2: 145,770,198 (GRCm39) |
V215A |
probably benign |
Het |
Dbx2 |
G |
T |
15: 95,552,304 (GRCm39) |
H114N |
probably benign |
Het |
Ddb2 |
T |
G |
2: 91,065,180 (GRCm39) |
T82P |
probably benign |
Het |
Emc8 |
T |
C |
8: 121,394,656 (GRCm39) |
Y21C |
probably damaging |
Het |
Epha1 |
A |
T |
6: 42,344,758 (GRCm39) |
M66K |
probably damaging |
Het |
Fan1 |
A |
C |
7: 64,022,007 (GRCm39) |
|
probably null |
Het |
Fgd2 |
T |
A |
17: 29,583,955 (GRCm39) |
L123Q |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,905,481 (GRCm38) |
V1077E |
probably damaging |
Het |
Fnbp1l |
A |
T |
3: 122,352,703 (GRCm39) |
M251K |
probably damaging |
Het |
Gal3st2c |
T |
A |
1: 93,935,928 (GRCm39) |
F93L |
probably damaging |
Het |
Gdf2 |
T |
C |
14: 33,667,564 (GRCm39) |
*429Q |
probably null |
Het |
Gdpd5 |
A |
G |
7: 99,104,156 (GRCm39) |
T455A |
possibly damaging |
Het |
Gm8356 |
G |
T |
14: 17,691,339 (GRCm39) |
Q109K |
|
Het |
Gpr20 |
A |
T |
15: 73,567,681 (GRCm39) |
V236E |
probably benign |
Het |
Gpr39 |
T |
C |
1: 125,800,323 (GRCm39) |
V358A |
probably damaging |
Het |
Grin1 |
T |
C |
2: 25,187,472 (GRCm39) |
N613D |
probably damaging |
Het |
H2bc15 |
G |
T |
13: 21,938,305 (GRCm39) |
A5S |
unknown |
Het |
Hepacam2 |
A |
G |
6: 3,476,046 (GRCm39) |
V293A |
probably benign |
Het |
Igf1r |
G |
A |
7: 67,864,682 (GRCm39) |
R1160Q |
probably damaging |
Het |
Iqcd |
T |
C |
5: 120,738,217 (GRCm39) |
Y12H |
probably benign |
Het |
Itih1 |
T |
C |
14: 30,658,711 (GRCm39) |
S393G |
probably benign |
Het |
Klhl33 |
T |
C |
14: 51,128,929 (GRCm39) |
M507V |
probably null |
Het |
Mast4 |
G |
T |
13: 102,872,944 (GRCm39) |
H2141Q |
probably benign |
Het |
Mkrn2 |
T |
A |
6: 115,587,486 (GRCm39) |
D54E |
probably damaging |
Het |
Mrm3 |
A |
G |
11: 76,141,104 (GRCm39) |
T371A |
possibly damaging |
Het |
Msantd5f3 |
G |
A |
4: 73,573,061 (GRCm39) |
S100N |
probably benign |
Het |
Mylk2 |
T |
A |
2: 152,759,552 (GRCm39) |
M414K |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,448,748 (GRCm39) |
E317G |
probably damaging |
Het |
Or51b6b |
A |
T |
7: 103,310,142 (GRCm39) |
I105N |
probably damaging |
Het |
Or51i2 |
A |
G |
7: 103,689,820 (GRCm39) |
I272M |
possibly damaging |
Het |
Or8k20 |
A |
G |
2: 86,106,484 (GRCm39) |
S116P |
probably benign |
Het |
Pcdhb18 |
T |
A |
18: 37,624,887 (GRCm39) |
V739E |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,448,322 (GRCm39) |
T3834S |
possibly damaging |
Het |
Pkp3 |
A |
G |
7: 140,668,310 (GRCm39) |
D546G |
probably damaging |
Het |
Pot1a |
A |
T |
6: 25,745,916 (GRCm39) |
M595K |
probably benign |
Het |
Pus7l |
A |
G |
15: 94,438,764 (GRCm39) |
I27T |
probably damaging |
Het |
Rbp3 |
A |
G |
14: 33,676,402 (GRCm39) |
I117V |
probably benign |
Het |
Rnf19a |
A |
T |
15: 36,247,375 (GRCm39) |
L454H |
probably damaging |
Het |
Rps6kb1 |
C |
A |
11: 86,410,746 (GRCm39) |
K167N |
possibly damaging |
Het |
Saxo1 |
A |
T |
4: 86,363,186 (GRCm39) |
Y432* |
probably null |
Het |
Setdb2 |
A |
T |
14: 59,646,841 (GRCm39) |
V558E |
probably benign |
Het |
Spmap2l |
A |
G |
5: 77,195,138 (GRCm39) |
N104S |
probably benign |
Het |
Tbck |
T |
C |
3: 132,456,966 (GRCm39) |
F627L |
probably damaging |
Het |
Tbpl2 |
T |
G |
2: 23,986,547 (GRCm39) |
M1L |
probably benign |
Het |
Timp2 |
A |
C |
11: 118,194,678 (GRCm39) |
D170E |
probably benign |
Het |
Tomm40 |
A |
G |
7: 19,436,812 (GRCm39) |
Y303H |
probably damaging |
Het |
Trgv5 |
T |
C |
13: 19,376,885 (GRCm39) |
C111R |
probably damaging |
Het |
Trhr |
T |
C |
15: 44,060,873 (GRCm39) |
I131T |
possibly damaging |
Het |
Vmn1r159 |
A |
G |
7: 22,542,417 (GRCm39) |
V205A |
probably damaging |
Het |
Vmn2r25 |
G |
T |
6: 123,800,164 (GRCm39) |
T726K |
probably damaging |
Het |
Wwox |
T |
A |
8: 115,433,105 (GRCm39) |
V257E |
probably benign |
Het |
Xxylt1 |
A |
G |
16: 30,869,593 (GRCm39) |
I169T |
probably benign |
Het |
Zfp1007 |
A |
T |
5: 109,824,846 (GRCm39) |
N201K |
|
Het |
Zfp457 |
T |
C |
13: 67,441,492 (GRCm39) |
Y361C |
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 |
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 |
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'- CAAGCTTACTGGCCGTGTTG -3'
(R):5'- AACCAGACTTCATTTGATGGTGTTC -3'
Sequencing Primer
(F):5'- TGGTTAAACATGCCAGCTGC -3'
(R):5'- CGTAAGGCTCGATCAGC -3'
|
Posted On |
2022-07-18 |