Incidental Mutation 'R5601:Ccdc13'
| ID |
439027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc13
|
| Ensembl Gene |
ENSMUSG00000079235 |
| Gene Name |
coiled-coil domain containing 13 |
| Synonyms |
2900041A11Rik |
| MMRRC Submission |
043153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R5601 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121626693-121668527 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 121629638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 114
(Q114*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135986]
[ENSMUST00000142783]
[ENSMUST00000155511]
|
| AlphaFold |
D3YV10 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126851
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135986
AA Change: Q596*
|
| SMART Domains |
Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235
AA Change: Q596*
| 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 null
Transcript: ENSMUST00000142783
AA Change: Q114*
|
| SMART Domains |
Protein: ENSMUSP00000130887
Gene: ENSMUSG00000079235
AA Change: Q114*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
68 |
122 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155511
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
G |
A |
13: 91,931,029 (GRCm39) |
V426I |
probably benign |
Het |
| Asmt |
T |
C |
X: 169,110,127 (GRCm39) |
V212A |
probably damaging |
Het |
| Atn1 |
A |
G |
6: 124,720,191 (GRCm39) |
|
probably null |
Het |
| Auts2 |
G |
T |
5: 131,505,662 (GRCm39) |
|
probably benign |
Het |
| AW551984 |
C |
T |
9: 39,502,563 (GRCm39) |
V672M |
possibly damaging |
Het |
| Bltp3a |
C |
A |
17: 28,103,468 (GRCm39) |
A392D |
probably damaging |
Het |
| Ces2e |
A |
T |
8: 105,656,126 (GRCm39) |
I146F |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,280,549 (GRCm39) |
K1443E |
probably damaging |
Het |
| Cma2 |
T |
A |
14: 56,211,246 (GRCm39) |
H179Q |
possibly damaging |
Het |
| Cpsf2 |
G |
T |
12: 101,951,614 (GRCm39) |
|
probably null |
Het |
| Cwh43 |
A |
G |
5: 73,575,283 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dram1 |
A |
G |
10: 88,160,629 (GRCm39) |
S231P |
probably damaging |
Het |
| Fbxw7 |
A |
G |
3: 84,883,515 (GRCm39) |
D482G |
probably damaging |
Het |
| Fstl1 |
T |
C |
16: 37,647,161 (GRCm39) |
I177T |
probably benign |
Het |
| Fut9 |
T |
C |
4: 25,620,299 (GRCm39) |
T172A |
probably benign |
Het |
| Gm5134 |
G |
A |
10: 75,821,786 (GRCm39) |
V207M |
probably damaging |
Het |
| Hccs |
G |
A |
X: 168,096,597 (GRCm39) |
R203C |
probably damaging |
Het |
| Hmgxb3 |
A |
T |
18: 61,270,694 (GRCm39) |
F877I |
probably damaging |
Het |
| Ide |
A |
G |
19: 37,292,379 (GRCm39) |
V272A |
unknown |
Het |
| Impact |
C |
T |
18: 13,109,064 (GRCm39) |
T65I |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,166,863 (GRCm39) |
S309P |
probably damaging |
Het |
| Myf6 |
A |
C |
10: 107,330,475 (GRCm39) |
S31A |
probably damaging |
Het |
| Or4n4b |
C |
A |
14: 50,536,318 (GRCm39) |
W149C |
probably damaging |
Het |
| Or8b35 |
C |
G |
9: 37,904,010 (GRCm39) |
T74R |
possibly damaging |
Het |
| P4hb |
T |
A |
11: 120,462,441 (GRCm39) |
E88D |
possibly damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,535,259 (GRCm39) |
C418R |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,142,817 (GRCm39) |
D267G |
probably damaging |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
| Prss58 |
A |
T |
6: 40,874,783 (GRCm39) |
N19K |
possibly damaging |
Het |
| Ptprq |
C |
T |
10: 107,444,291 (GRCm39) |
A1438T |
probably benign |
Het |
| Rfx4 |
A |
T |
10: 84,634,442 (GRCm39) |
T61S |
probably damaging |
Het |
| Sclt1 |
T |
A |
3: 41,685,354 (GRCm39) |
N35Y |
probably benign |
Het |
| Sec24b |
CTG |
CTGGTG |
3: 129,834,483 (GRCm39) |
|
probably benign |
Het |
| Serpinb12 |
T |
C |
1: 106,881,427 (GRCm39) |
I188T |
probably damaging |
Het |
| Slc27a4 |
A |
T |
2: 29,695,672 (GRCm39) |
Y69F |
probably benign |
Het |
| Slc3a1 |
T |
C |
17: 85,340,319 (GRCm39) |
V247A |
probably benign |
Het |
| Slc4a2 |
C |
T |
5: 24,643,772 (GRCm39) |
T854I |
probably benign |
Het |
| Stat5b |
G |
A |
11: 100,674,001 (GRCm39) |
T761M |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,842,717 (GRCm39) |
L563P |
probably damaging |
Het |
| Tbc1d23 |
C |
A |
16: 57,018,672 (GRCm39) |
C283F |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,564,462 (GRCm39) |
N900S |
possibly damaging |
Het |
| Tkfc |
T |
C |
19: 10,571,927 (GRCm39) |
T370A |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,311,604 (GRCm39) |
V1868A |
possibly damaging |
Het |
| Triobp |
T |
A |
15: 78,857,833 (GRCm39) |
W1145R |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,232,025 (GRCm39) |
L675V |
probably damaging |
Het |
| Zfp423 |
T |
C |
8: 88,508,637 (GRCm39) |
E444G |
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 |
|
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 |
|
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'- AGATGACACCTTTTGGGACC -3'
(R):5'- GCTACCACCTCCATAGTGTGTC -3'
Sequencing Primer
(F):5'- ACATGGGGCAAGAAGTCCTCC -3'
(R):5'- CCATAGTGTGTCTACCACTGTGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation