Incidental Mutation 'R1447:Ccdc162'
| ID |
160714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc162
|
| Ensembl Gene |
ENSMUSG00000075225 |
| Gene Name |
coiled-coil domain containing 162 |
| Synonyms |
Gm29096, Gm6976, 5033413D22Rik |
| MMRRC Submission |
039502-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R1447 (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 41456243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 360
(E360G)
|
| 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: E170G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225
AA Change: E170G
| 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: ENSMUST00000160751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170047
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179614
AA Change: E360G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: E360G
| 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: E1633G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: E1633G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
328 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219054
AA Change: E360G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.8%
- 20x: 84.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
T |
15: 11,263,447 (GRCm39) |
D603V |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,984,446 (GRCm39) |
E1910V |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Amotl1 |
A |
G |
9: 14,467,038 (GRCm39) |
V704A |
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,509,691 (GRCm39) |
V892E |
probably damaging |
Het |
| Aoc1 |
G |
A |
6: 48,883,176 (GRCm39) |
V351I |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,734,924 (GRCm39) |
V412A |
possibly damaging |
Het |
| Atp8b2 |
A |
T |
3: 89,851,477 (GRCm39) |
I906N |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,019,735 (GRCm39) |
L2048P |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,211,457 (GRCm39) |
V304A |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,969,854 (GRCm39) |
D1176G |
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,952,735 (GRCm39) |
G66R |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 15,975,306 (GRCm39) |
G2968* |
probably null |
Het |
| Cyp2j7 |
A |
T |
4: 96,083,530 (GRCm39) |
F473L |
possibly damaging |
Het |
| Ddx24 |
T |
C |
12: 103,390,566 (GRCm39) |
K142E |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,028,855 (GRCm39) |
M625K |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,999,308 (GRCm39) |
Y944N |
possibly damaging |
Het |
| Eef1akmt1 |
T |
A |
14: 57,803,441 (GRCm39) |
K38* |
probably null |
Het |
| Enpp2 |
C |
T |
15: 54,782,994 (GRCm39) |
|
probably null |
Het |
| Eps8l1 |
A |
G |
7: 4,477,055 (GRCm39) |
E508G |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,896,625 (GRCm39) |
D497E |
possibly damaging |
Het |
| Fam181b |
C |
T |
7: 92,729,368 (GRCm39) |
A47V |
probably damaging |
Het |
| Fubp3 |
T |
C |
2: 31,490,559 (GRCm39) |
V221A |
probably damaging |
Het |
| Golga2 |
T |
C |
2: 32,187,788 (GRCm39) |
V191A |
possibly damaging |
Het |
| Haus5 |
G |
T |
7: 30,361,216 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
C |
8: 111,249,798 (GRCm39) |
L2247P |
probably damaging |
Het |
| Lama5 |
A |
C |
2: 179,827,671 (GRCm39) |
I2197S |
probably damaging |
Het |
| Mapre3 |
C |
T |
5: 31,019,151 (GRCm39) |
|
probably benign |
Het |
| Mast2 |
C |
A |
4: 116,169,210 (GRCm39) |
M733I |
probably benign |
Het |
| Mphosph10 |
A |
T |
7: 64,030,698 (GRCm39) |
F514I |
probably damaging |
Het |
| Mterf3 |
A |
G |
13: 67,065,103 (GRCm39) |
L266P |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,192,120 (GRCm39) |
D1114G |
probably benign |
Het |
| Or1ak2 |
T |
G |
2: 36,827,788 (GRCm39) |
V219G |
possibly damaging |
Het |
| Or1e21 |
A |
G |
11: 73,344,700 (GRCm39) |
F113L |
probably benign |
Het |
| Phf24 |
G |
T |
4: 42,938,232 (GRCm39) |
E119* |
probably null |
Het |
| Pik3r5 |
G |
A |
11: 68,385,003 (GRCm39) |
R636Q |
probably benign |
Het |
| Plaat3 |
G |
A |
19: 7,556,598 (GRCm39) |
R133H |
probably benign |
Het |
| Rida |
T |
A |
15: 34,488,757 (GRCm39) |
Q45L |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 51,974,954 (GRCm39) |
T1544A |
possibly damaging |
Het |
| Rpl7 |
T |
A |
1: 16,172,821 (GRCm39) |
Y166F |
probably benign |
Het |
| Rps6ka5 |
A |
G |
12: 100,544,084 (GRCm39) |
I338T |
probably benign |
Het |
| Scn3a |
A |
T |
2: 65,300,324 (GRCm39) |
N1347K |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,854,739 (GRCm39) |
D238G |
probably benign |
Het |
| Sh3rf2 |
T |
A |
18: 42,234,736 (GRCm39) |
I173N |
probably benign |
Het |
| Smarcc2 |
T |
C |
10: 128,305,660 (GRCm39) |
|
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,670,070 (GRCm39) |
S1531P |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 59,904,496 (GRCm39) |
N567D |
probably benign |
Het |
| Tmprss13 |
C |
A |
9: 45,239,878 (GRCm39) |
P62Q |
unknown |
Het |
| Tmprss7 |
T |
C |
16: 45,501,033 (GRCm39) |
Q256R |
probably benign |
Het |
| Tssc4 |
A |
G |
7: 142,623,892 (GRCm39) |
T67A |
probably benign |
Het |
| Tssk5 |
G |
A |
15: 76,256,304 (GRCm39) |
Q372* |
probably null |
Het |
| Usp47 |
G |
T |
7: 111,673,775 (GRCm39) |
|
probably null |
Het |
| Utp15 |
A |
G |
13: 98,389,386 (GRCm39) |
I304T |
possibly damaging |
Het |
| Vmn1r35 |
A |
C |
6: 66,655,890 (GRCm39) |
V93G |
probably benign |
Het |
| Zfhx3 |
A |
C |
8: 109,675,076 (GRCm39) |
Q2042P |
probably benign |
Het |
| Zfp532 |
C |
A |
18: 65,758,061 (GRCm39) |
R665S |
probably damaging |
Het |
| Zfp976 |
G |
T |
7: 42,262,023 (GRCm39) |
P605T |
possibly damaging |
Het |
| Zfpl1 |
A |
G |
19: 6,132,649 (GRCm39) |
V125A |
possibly 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 |
|
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 |
|
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'- TGATGAGCGAATATTACTCAGCACACC -3'
(R):5'- GAAGAGTTGCCAACAACTTGAAGCAC -3'
Sequencing Primer
(F):5'- CTGGGAAAAGCCTCTTCAAAATG -3'
(R):5'- GTCTATAAAGGGTTTGGATGACAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation