Incidental Mutation 'R6215:Ccdc13'
ID |
503668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc13
|
Ensembl Gene |
ENSMUSG00000079235 |
Gene Name |
coiled-coil domain containing 13 |
Synonyms |
2900041A11Rik |
MMRRC Submission |
044348-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R6215 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
121626693-121668527 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 121627975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128061
(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
|
SMART Domains |
Protein: ENSMUSP00000114787 Gene: ENSMUSG00000079235
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 |
unknown
Transcript: ENSMUST00000142783
AA Change: L214P
|
SMART Domains |
Protein: ENSMUSP00000130887 Gene: ENSMUSG00000079235 AA Change: L214P
Domain | Start | End | E-Value | Type |
coiled coil region
|
68 |
122 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155511
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
95% (42/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
T |
13: 81,727,713 (GRCm39) |
W309* |
probably null |
Het |
Aox1 |
G |
A |
1: 58,124,620 (GRCm39) |
V954I |
probably benign |
Het |
Asnsd1 |
A |
C |
1: 53,387,187 (GRCm39) |
|
probably null |
Het |
Aste1 |
A |
G |
9: 105,274,056 (GRCm39) |
K38E |
probably damaging |
Het |
Catsperg1 |
A |
G |
7: 28,899,664 (GRCm39) |
V339A |
probably damaging |
Het |
Cd79b |
C |
A |
11: 106,203,267 (GRCm39) |
|
probably null |
Het |
Cemip2 |
C |
A |
19: 21,789,751 (GRCm39) |
N650K |
probably benign |
Het |
Chd3 |
A |
G |
11: 69,247,380 (GRCm39) |
L981P |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,029,761 (GRCm39) |
F132L |
probably damaging |
Het |
Dhx9 |
G |
A |
1: 153,348,209 (GRCm39) |
P336S |
probably damaging |
Het |
Dido1 |
T |
C |
2: 180,303,945 (GRCm39) |
K1320E |
probably damaging |
Het |
Dmbt1 |
G |
T |
7: 130,668,463 (GRCm39) |
C573F |
possibly damaging |
Het |
Dmtn |
A |
G |
14: 70,850,776 (GRCm39) |
I205T |
probably benign |
Het |
Efnb3 |
C |
A |
11: 69,447,591 (GRCm39) |
V181L |
probably benign |
Het |
Flg2 |
G |
T |
3: 93,109,166 (GRCm39) |
C398F |
possibly damaging |
Het |
Gabbr1 |
A |
G |
17: 37,380,257 (GRCm39) |
D604G |
probably damaging |
Het |
Glis2 |
T |
A |
16: 4,428,197 (GRCm39) |
L83* |
probably null |
Het |
Gm10719 |
T |
A |
9: 3,019,040 (GRCm39) |
|
probably null |
Homo |
Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
Kcnj13 |
A |
G |
1: 87,314,256 (GRCm39) |
V322A |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,688,426 (GRCm39) |
L617P |
probably damaging |
Het |
Npc1 |
ACAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAG |
18: 12,369,249 (GRCm39) |
|
probably benign |
Het |
Or8b3b |
A |
G |
9: 38,584,510 (GRCm39) |
S90P |
probably benign |
Het |
Osgin1 |
G |
A |
8: 120,172,183 (GRCm39) |
V326I |
probably benign |
Het |
Pcsk7 |
A |
C |
9: 45,821,674 (GRCm39) |
N156T |
possibly damaging |
Het |
Pde4d |
C |
T |
13: 110,085,967 (GRCm39) |
S515L |
probably damaging |
Het |
Peg10 |
GC |
GCCCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Ppp2r5a |
T |
A |
1: 191,094,447 (GRCm39) |
Q191L |
probably benign |
Het |
Prom2 |
A |
G |
2: 127,381,695 (GRCm39) |
|
probably null |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,325,380 (GRCm39) |
I1046V |
probably benign |
Het |
Sh3glb2 |
T |
C |
2: 30,235,805 (GRCm39) |
E313G |
possibly damaging |
Het |
Slc13a1 |
A |
T |
6: 24,090,795 (GRCm39) |
Y541* |
probably null |
Het |
Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,126,946 (GRCm39) |
K2021N |
probably benign |
Het |
Speer1d |
C |
T |
5: 11,307,197 (GRCm39) |
T25I |
probably damaging |
Het |
Tm6sf2 |
T |
C |
8: 70,525,724 (GRCm39) |
V27A |
possibly damaging |
Het |
Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
Trim21 |
A |
G |
7: 102,208,646 (GRCm39) |
S358P |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,710,552 (GRCm39) |
|
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,602,820 (GRCm39) |
Q525R |
probably benign |
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 |
R1441:Ccdc13
|
UTSW |
9 |
121,642,515 (GRCm39) |
missense |
probably benign |
0.44 |
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 |
|
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'- TTCACAGTACTGACCCAGAAGC -3'
(R):5'- ACACAGCTCTGCGATATGCC -3'
Sequencing Primer
(F):5'- CACTGCTGAGTGCTGACATTACAG -3'
(R):5'- TCTGCGATATGCCCATGGAGTC -3'
|
Posted On |
2018-02-27 |