Incidental Mutation 'R6968:Ccdc162'
| ID |
542121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc162
|
| Ensembl Gene |
ENSMUSG00000075225 |
| Gene Name |
coiled-coil domain containing 162 |
| Synonyms |
Gm29096, Gm6976, 5033413D22Rik |
| MMRRC Submission |
045078-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R6968 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41414838-41592586 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41549840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 348
(T348A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000189488
AA Change: T348A
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: T348A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
328 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190522
AA Change: T348A
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000140852
Gene: ENSMUSG00000100855
AA Change: T348A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4549
|
2 |
145 |
7.9e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190522
AA Change: T348A
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apip |
C |
T |
2: 102,919,798 (GRCm39) |
L125F |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,276 (GRCm39) |
V1009A |
probably benign |
Het |
| Asah2 |
A |
T |
19: 31,989,913 (GRCm39) |
I489K |
probably benign |
Het |
| Bace1 |
A |
G |
9: 45,766,263 (GRCm39) |
|
probably null |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cdkn2aip |
C |
A |
8: 48,166,922 (GRCm39) |
|
probably benign |
Het |
| Cep78 |
A |
C |
19: 15,959,102 (GRCm39) |
F111V |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,085,281 (GRCm39) |
L784Q |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,896,683 (GRCm39) |
C398Y |
probably benign |
Het |
| Cmip |
T |
C |
8: 118,103,895 (GRCm39) |
Y128H |
probably damaging |
Het |
| Cpne2 |
C |
T |
8: 95,275,130 (GRCm39) |
P46L |
probably damaging |
Het |
| Cyp2w1 |
A |
G |
5: 139,339,746 (GRCm39) |
Q112R |
probably damaging |
Het |
| Entpd3 |
A |
T |
9: 120,389,722 (GRCm39) |
E336V |
probably benign |
Het |
| Fbxw28 |
A |
C |
9: 109,159,856 (GRCm39) |
S197A |
probably benign |
Het |
| Foxk2 |
T |
C |
11: 121,151,308 (GRCm39) |
F118L |
possibly damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Hinfp |
A |
C |
9: 44,209,282 (GRCm39) |
S306A |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,262,467 (GRCm39) |
V1663E |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,571,086 (GRCm39) |
I125T |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,877,878 (GRCm39) |
E592K |
probably benign |
Het |
| Krt23 |
T |
A |
11: 99,371,900 (GRCm39) |
E317V |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,835,857 (GRCm39) |
|
probably null |
Het |
| Mast4 |
G |
T |
13: 102,934,586 (GRCm39) |
N152K |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mier2 |
G |
A |
10: 79,376,476 (GRCm39) |
|
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,794,860 (GRCm39) |
T584A |
probably benign |
Het |
| Necab1 |
T |
C |
4: 14,957,852 (GRCm39) |
E335G |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,783,433 (GRCm39) |
N925K |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 56,998,758 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
C |
18: 36,329,499 (GRCm39) |
I239V |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,779,409 (GRCm39) |
D562G |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,273,155 (GRCm39) |
|
probably null |
Het |
| Or1e31 |
A |
G |
11: 73,690,205 (GRCm39) |
I126T |
possibly damaging |
Het |
| Ormdl3 |
T |
A |
11: 98,474,941 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdh10 |
T |
A |
3: 45,333,977 (GRCm39) |
V97D |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,433,658 (GRCm39) |
F847L |
probably damaging |
Het |
| Ppp1r13b |
C |
A |
12: 111,799,612 (GRCm39) |
V722F |
possibly damaging |
Het |
| Rhoh |
A |
G |
5: 66,049,862 (GRCm39) |
D44G |
possibly damaging |
Het |
| Riox1 |
C |
T |
12: 83,998,147 (GRCm39) |
R228C |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
| Saxo2 |
T |
C |
7: 82,292,969 (GRCm39) |
T43A |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
| Sema3f |
C |
T |
9: 107,568,648 (GRCm39) |
|
probably null |
Het |
| Snap25 |
T |
C |
2: 136,611,690 (GRCm39) |
M64T |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,597,426 (GRCm39) |
N1410S |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,774 (GRCm39) |
I231T |
probably damaging |
Het |
| Stam |
A |
T |
2: 14,120,829 (GRCm39) |
H78L |
probably damaging |
Het |
| Suox |
C |
T |
10: 128,507,702 (GRCm39) |
V109I |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,067,041 (GRCm39) |
R7075G |
probably benign |
Het |
| Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,550,217 (GRCm39) |
R482Q |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,781,650 (GRCm39) |
V1440A |
probably benign |
Het |
| Togaram2 |
A |
G |
17: 72,016,608 (GRCm39) |
D655G |
probably damaging |
Het |
| Trgv2 |
A |
T |
13: 19,520,896 (GRCm39) |
I66K |
probably damaging |
Het |
| Vmn1r113 |
A |
T |
7: 20,521,876 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,437,866 (GRCm39) |
H206L |
probably benign |
Het |
| Zan |
T |
A |
5: 137,460,075 (GRCm39) |
Y1272F |
unknown |
Het |
| Zfp39 |
T |
C |
11: 58,782,306 (GRCm39) |
H152R |
probably benign |
Het |
| Zfp41 |
T |
A |
15: 75,490,310 (GRCm39) |
Y87* |
probably null |
Het |
| Zfp933 |
A |
T |
4: 147,910,654 (GRCm39) |
L314H |
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 |
|
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'- GACTCAGTTGTAGCGGTCTC -3'
(R):5'- TGAGCACTTTGGAGAAGCAG -3'
Sequencing Primer
(F):5'- CTCCGTTGAGGACAGGTAGCATG -3'
(R):5'- TTTGGAGAAGCAGCCACCTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation