Incidental Mutation 'R1441:Ccdc13'
ID |
161018 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc13
|
Ensembl Gene |
ENSMUSG00000079235 |
Gene Name |
coiled-coil domain containing 13 |
Synonyms |
2900041A11Rik |
MMRRC Submission |
039496-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R1441 (G1)
|
Quality Score |
132 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
121626693-121668527 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121642515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 403
(V403E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114787
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135986]
[ENSMUST00000142783]
[ENSMUST00000155511]
|
AlphaFold |
D3YV10 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126851
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135986
AA Change: V403E
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114787 Gene: ENSMUSG00000079235 AA Change: V403E
Domain | Start | End | E-Value | Type |
coiled coil region
|
19 |
46 |
N/A |
INTRINSIC |
coiled coil region
|
70 |
103 |
N/A |
INTRINSIC |
coiled coil region
|
139 |
178 |
N/A |
INTRINSIC |
coiled coil region
|
206 |
248 |
N/A |
INTRINSIC |
low complexity region
|
293 |
304 |
N/A |
INTRINSIC |
coiled coil region
|
323 |
370 |
N/A |
INTRINSIC |
coiled coil region
|
428 |
458 |
N/A |
INTRINSIC |
coiled coil region
|
550 |
604 |
N/A |
INTRINSIC |
coiled coil region
|
648 |
670 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140929
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142783
|
SMART Domains |
Protein: ENSMUSP00000130887 Gene: ENSMUSG00000079235
Domain | Start | End | E-Value | Type |
coiled coil region
|
68 |
122 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146716
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155511
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
A |
T |
8: 114,481,194 (GRCm39) |
|
probably null |
Het |
Ankrd16 |
T |
C |
2: 11,783,557 (GRCm39) |
L53P |
probably damaging |
Het |
Arsk |
A |
T |
13: 76,223,083 (GRCm39) |
N171K |
probably benign |
Het |
Brwd1 |
A |
C |
16: 95,867,351 (GRCm39) |
C161W |
probably damaging |
Het |
Card9 |
T |
C |
2: 26,249,402 (GRCm39) |
N53S |
probably benign |
Het |
Ccdc83 |
T |
A |
7: 89,893,351 (GRCm39) |
E135D |
probably damaging |
Het |
Ccser1 |
C |
T |
6: 62,357,016 (GRCm39) |
T818I |
probably benign |
Het |
Cd44 |
T |
A |
2: 102,676,763 (GRCm39) |
T301S |
probably damaging |
Het |
Eepd1 |
G |
A |
9: 25,394,499 (GRCm39) |
M254I |
probably benign |
Het |
Ephb4 |
C |
T |
5: 137,359,509 (GRCm39) |
R360C |
probably damaging |
Het |
Fam149a |
G |
T |
8: 45,808,684 (GRCm39) |
Q150K |
probably damaging |
Het |
G6pc2 |
G |
A |
2: 69,051,198 (GRCm39) |
C97Y |
probably damaging |
Het |
Gcsam |
T |
A |
16: 45,433,401 (GRCm39) |
M15K |
probably benign |
Het |
Impdh2 |
C |
A |
9: 108,441,975 (GRCm39) |
T201K |
probably benign |
Het |
Kdm2b |
C |
T |
5: 123,070,943 (GRCm39) |
E379K |
probably benign |
Het |
Mcm3ap |
T |
C |
10: 76,307,000 (GRCm39) |
V371A |
probably benign |
Het |
Mink1 |
T |
A |
11: 70,497,940 (GRCm39) |
N514K |
possibly damaging |
Het |
Mmp12 |
C |
T |
9: 7,354,787 (GRCm39) |
P330L |
probably damaging |
Het |
Mroh2a |
A |
G |
1: 88,169,353 (GRCm39) |
D676G |
possibly damaging |
Het |
Myo1a |
C |
T |
10: 127,555,148 (GRCm39) |
P838L |
probably benign |
Het |
Naip5 |
T |
C |
13: 100,356,225 (GRCm39) |
H1130R |
possibly damaging |
Het |
Ninl |
C |
A |
2: 150,813,044 (GRCm39) |
G204V |
probably benign |
Het |
Or12k5 |
C |
A |
2: 36,895,131 (GRCm39) |
R165L |
possibly damaging |
Het |
Or2a54 |
T |
C |
6: 43,092,880 (GRCm39) |
V68A |
probably benign |
Het |
Or4k51 |
T |
C |
2: 111,585,347 (GRCm39) |
F251S |
probably damaging |
Het |
Or5ac20 |
G |
A |
16: 59,104,228 (GRCm39) |
L211F |
probably benign |
Het |
Or5an11 |
T |
A |
19: 12,245,750 (GRCm39) |
L52* |
probably null |
Het |
Or8c15 |
T |
C |
9: 38,120,777 (GRCm39) |
C141R |
probably damaging |
Het |
Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
Pip4p2 |
A |
T |
4: 14,892,477 (GRCm39) |
I114L |
possibly damaging |
Het |
Ptpn22 |
G |
T |
3: 103,781,563 (GRCm39) |
W114L |
probably damaging |
Het |
Rasa1 |
C |
T |
13: 85,400,540 (GRCm39) |
|
probably null |
Het |
Rbks |
C |
T |
5: 31,817,341 (GRCm39) |
V143I |
probably benign |
Het |
Rbm19 |
T |
C |
5: 120,269,241 (GRCm39) |
F515L |
probably damaging |
Het |
Ror1 |
A |
G |
4: 100,298,180 (GRCm39) |
T518A |
probably benign |
Het |
Rpusd4 |
C |
A |
9: 35,184,065 (GRCm39) |
A240E |
probably damaging |
Het |
Rufy3 |
T |
C |
5: 88,780,374 (GRCm39) |
L374P |
probably damaging |
Het |
Sf3a3 |
T |
C |
4: 124,618,935 (GRCm39) |
S299P |
probably damaging |
Het |
Slc7a12 |
T |
G |
3: 14,562,414 (GRCm39) |
S264A |
possibly damaging |
Het |
Tasor |
T |
A |
14: 27,186,217 (GRCm39) |
C805* |
probably null |
Het |
Tm9sf1 |
T |
C |
14: 55,873,782 (GRCm39) |
Y572C |
probably damaging |
Het |
Tpcn2 |
G |
A |
7: 144,813,871 (GRCm39) |
S475L |
probably benign |
Het |
Trim17 |
A |
G |
11: 58,856,018 (GRCm39) |
D25G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,572,121 (GRCm39) |
K26257N |
probably damaging |
Het |
Txndc11 |
C |
A |
16: 10,952,414 (GRCm39) |
|
probably benign |
Het |
Utrn |
A |
G |
10: 12,559,039 (GRCm39) |
S1405P |
probably damaging |
Het |
Vmn2r58 |
G |
A |
7: 41,486,864 (GRCm39) |
T677I |
probably damaging |
Het |
|
Other mutations in Ccdc13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01111:Ccdc13
|
APN |
9 |
121,639,150 (GRCm39) |
splice site |
probably benign |
|
IGL01306:Ccdc13
|
APN |
9 |
121,656,429 (GRCm39) |
missense |
probably benign |
0.37 |
ANU23:Ccdc13
|
UTSW |
9 |
121,656,429 (GRCm39) |
missense |
probably benign |
0.37 |
R0112:Ccdc13
|
UTSW |
9 |
121,642,547 (GRCm39) |
missense |
probably damaging |
0.98 |
R0144:Ccdc13
|
UTSW |
9 |
121,656,417 (GRCm39) |
missense |
probably damaging |
0.98 |
R0360:Ccdc13
|
UTSW |
9 |
121,627,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R0364:Ccdc13
|
UTSW |
9 |
121,627,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R1674:Ccdc13
|
UTSW |
9 |
121,638,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R1691:Ccdc13
|
UTSW |
9 |
121,654,134 (GRCm39) |
splice site |
probably null |
|
R1710:Ccdc13
|
UTSW |
9 |
121,648,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R3821:Ccdc13
|
UTSW |
9 |
121,660,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R3822:Ccdc13
|
UTSW |
9 |
121,660,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R3962:Ccdc13
|
UTSW |
9 |
121,628,005 (GRCm39) |
intron |
probably benign |
|
R4695:Ccdc13
|
UTSW |
9 |
121,649,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R4758:Ccdc13
|
UTSW |
9 |
121,662,800 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5058:Ccdc13
|
UTSW |
9 |
121,646,613 (GRCm39) |
intron |
probably benign |
|
R5283:Ccdc13
|
UTSW |
9 |
121,637,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R5436:Ccdc13
|
UTSW |
9 |
121,628,109 (GRCm39) |
missense |
probably benign |
0.06 |
R5601:Ccdc13
|
UTSW |
9 |
121,629,638 (GRCm39) |
nonsense |
probably null |
|
R5623:Ccdc13
|
UTSW |
9 |
121,662,799 (GRCm39) |
missense |
probably damaging |
0.99 |
R5653:Ccdc13
|
UTSW |
9 |
121,627,853 (GRCm39) |
makesense |
probably null |
|
R5665:Ccdc13
|
UTSW |
9 |
121,643,356 (GRCm39) |
missense |
probably damaging |
0.99 |
R5975:Ccdc13
|
UTSW |
9 |
121,656,301 (GRCm39) |
missense |
probably benign |
0.00 |
R6212:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
R6213:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
R6214:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
R6215:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
R6222:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
R6223:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
R6257:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
R7053:Ccdc13
|
UTSW |
9 |
121,662,904 (GRCm39) |
missense |
probably damaging |
0.97 |
R7664:Ccdc13
|
UTSW |
9 |
121,643,279 (GRCm39) |
missense |
probably benign |
0.01 |
R7909:Ccdc13
|
UTSW |
9 |
121,662,926 (GRCm39) |
missense |
probably benign |
0.01 |
R7943:Ccdc13
|
UTSW |
9 |
121,628,196 (GRCm39) |
missense |
unknown |
|
R8464:Ccdc13
|
UTSW |
9 |
121,649,824 (GRCm39) |
missense |
probably damaging |
0.98 |
R8827:Ccdc13
|
UTSW |
9 |
121,645,765 (GRCm39) |
missense |
probably benign |
0.09 |
R9445:Ccdc13
|
UTSW |
9 |
121,627,156 (GRCm39) |
missense |
probably benign |
0.01 |
RF006:Ccdc13
|
UTSW |
9 |
121,643,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTGGACACTGAGTTGCCCAATC -3'
(R):5'- CTGAAGAGCACCTTTTCGCATGATG -3'
Sequencing Primer
(F):5'- ACTGAGTTGCCCAATCTCCAG -3'
(R):5'- TCAGAGATGAGCCTTGCATCC -3'
|
Posted On |
2014-03-14 |