Incidental Mutation 'R1333:Ccdc63'
| ID |
156769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc63
|
| Ensembl Gene |
ENSMUSG00000043036 |
| Gene Name |
coiled-coil domain containing 63 |
| Synonyms |
4921511C16Rik |
| MMRRC Submission |
039398-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R1333 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
122246115-122276143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122246224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 566
(T566A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014080]
[ENSMUST00000058960]
[ENSMUST00000111750]
[ENSMUST00000111751]
[ENSMUST00000139213]
[ENSMUST00000152389]
[ENSMUST00000155612]
[ENSMUST00000146733]
[ENSMUST00000150535]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014080
|
| SMART Domains |
Protein: ENSMUSP00000014080
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
28 |
56 |
2.81e-5 |
SMART |
|
EFh
|
98 |
126 |
4.53e0 |
SMART |
|
EFh
|
134 |
162 |
3.97e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058960
AA Change: T566A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000050582
Gene: ENSMUSG00000043036
AA Change: T566A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
140 |
158 |
N/A |
INTRINSIC |
|
coiled coil region
|
209 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
318 |
N/A |
INTRINSIC |
|
coiled coil region
|
393 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111750
|
| SMART Domains |
Protein: ENSMUSP00000107379
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
28 |
56 |
2.81e-5 |
SMART |
|
EFh
|
98 |
126 |
4.53e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111751
|
| SMART Domains |
Protein: ENSMUSP00000107380
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
28 |
56 |
2.81e-5 |
SMART |
|
EFh
|
98 |
126 |
4.53e0 |
SMART |
|
EFh
|
134 |
162 |
3.97e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123913
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126006
|
| SMART Domains |
Protein: ENSMUSP00000123261
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2W4H|B
|
2 |
62 |
4e-8 |
PDB |
|
SCOP:d1wdcb_
|
10 |
62 |
4e-5 |
SMART |
|
Blast:EFh
|
37 |
62 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139213
|
| SMART Domains |
Protein: ENSMUSP00000114156
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_7
|
6 |
54 |
7e-8 |
PFAM |
|
Pfam:EF-hand_1
|
9 |
37 |
6.4e-8 |
PFAM |
|
Pfam:EF-hand_6
|
9 |
40 |
6.2e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198618
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152744
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152389
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153816
|
| SMART Domains |
Protein: ENSMUSP00000119627
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_1
|
62 |
90 |
2.4e-8 |
PFAM |
|
Pfam:EF-hand_6
|
62 |
91 |
7.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155612
|
| SMART Domains |
Protein: ENSMUSP00000120105
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
9 |
37 |
2.81e-5 |
SMART |
|
EFh
|
79 |
107 |
4.53e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146733
|
| SMART Domains |
Protein: ENSMUSP00000142592
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_7
|
6 |
54 |
1.2e-6 |
PFAM |
|
Pfam:EF-hand_1
|
9 |
37 |
1.1e-6 |
PFAM |
|
Pfam:EF-hand_6
|
9 |
40 |
1.1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150535
|
| SMART Domains |
Protein: ENSMUSP00000120274
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_7
|
6 |
54 |
6.2e-8 |
PFAM |
|
Pfam:EF-hand_1
|
9 |
37 |
5.8e-8 |
PFAM |
|
Pfam:EF-hand_6
|
9 |
40 |
5.6e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.3%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
G |
8: 114,431,805 (GRCm39) |
|
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Amt |
A |
G |
9: 108,178,296 (GRCm39) |
D301G |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,744 (GRCm39) |
V276A |
probably benign |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Cdk5rap1 |
A |
G |
2: 154,202,574 (GRCm39) |
S219P |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,515,684 (GRCm39) |
|
probably null |
Het |
| Ctns |
G |
A |
11: 73,075,823 (GRCm39) |
T342I |
probably benign |
Het |
| Dst |
G |
A |
1: 34,267,428 (GRCm39) |
E4957K |
probably damaging |
Het |
| Elp1 |
C |
T |
4: 56,770,969 (GRCm39) |
|
probably benign |
Het |
| Fam163b |
A |
G |
2: 27,003,659 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,457,152 (GRCm39) |
T2067A |
probably benign |
Het |
| Gm7353 |
C |
T |
7: 3,159,066 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9791 |
T |
C |
3: 34,059,225 (GRCm39) |
|
noncoding transcript |
Het |
| Grik2 |
G |
T |
10: 49,404,087 (GRCm39) |
T258N |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,864,478 (GRCm39) |
L704P |
probably damaging |
Het |
| Hjurp |
A |
C |
1: 88,193,768 (GRCm39) |
V380G |
probably damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,778,177 (GRCm39) |
|
probably benign |
Het |
| Mast3 |
G |
A |
8: 71,233,938 (GRCm39) |
P187S |
probably damaging |
Het |
| Mier2 |
A |
G |
10: 79,380,991 (GRCm39) |
V231A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,422,144 (GRCm39) |
T4427A |
possibly damaging |
Het |
| Nox4 |
A |
G |
7: 86,896,072 (GRCm39) |
S7G |
possibly damaging |
Het |
| Obscn |
G |
C |
11: 58,971,143 (GRCm39) |
Q2457E |
probably damaging |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Slc1a1 |
A |
G |
19: 28,812,611 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stat6 |
G |
C |
10: 127,487,094 (GRCm39) |
R200S |
possibly damaging |
Het |
| Stxbp5l |
C |
A |
16: 37,068,231 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
A |
G |
2: 59,673,835 (GRCm39) |
S1647G |
probably benign |
Het |
| Tmem132d |
T |
A |
5: 127,861,923 (GRCm39) |
M733L |
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,964,381 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,199,550 (GRCm39) |
S165P |
possibly damaging |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,615 (GRCm39) |
I230T |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,481,889 (GRCm39) |
D591G |
possibly damaging |
Het |
|
| Other mutations in Ccdc63 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00919:Ccdc63
|
APN |
5 |
122,262,982 (GRCm39) |
splice site |
probably benign |
|
|
IGL01660:Ccdc63
|
APN |
5 |
122,249,027 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01773:Ccdc63
|
APN |
5 |
122,251,208 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02341:Ccdc63
|
APN |
5 |
122,251,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03030:Ccdc63
|
APN |
5 |
122,260,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02991:Ccdc63
|
UTSW |
5 |
122,246,275 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0267:Ccdc63
|
UTSW |
5 |
122,255,107 (GRCm39) |
splice site |
probably benign |
|
|
R0961:Ccdc63
|
UTSW |
5 |
122,249,009 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1802:Ccdc63
|
UTSW |
5 |
122,267,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1999:Ccdc63
|
UTSW |
5 |
122,265,628 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2048:Ccdc63
|
UTSW |
5 |
122,268,350 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2150:Ccdc63
|
UTSW |
5 |
122,265,628 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2350:Ccdc63
|
UTSW |
5 |
122,260,948 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4049:Ccdc63
|
UTSW |
5 |
122,260,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5072:Ccdc63
|
UTSW |
5 |
122,259,118 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5847:Ccdc63
|
UTSW |
5 |
122,254,908 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6031:Ccdc63
|
UTSW |
5 |
122,267,799 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6031:Ccdc63
|
UTSW |
5 |
122,267,799 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6249:Ccdc63
|
UTSW |
5 |
122,263,062 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6782:Ccdc63
|
UTSW |
5 |
122,249,077 (GRCm39) |
nonsense |
probably null |
|
|
R7073:Ccdc63
|
UTSW |
5 |
122,249,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7250:Ccdc63
|
UTSW |
5 |
122,260,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Ccdc63
|
UTSW |
5 |
122,246,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7584:Ccdc63
|
UTSW |
5 |
122,251,267 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7773:Ccdc63
|
UTSW |
5 |
122,247,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7856:Ccdc63
|
UTSW |
5 |
122,268,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8114:Ccdc63
|
UTSW |
5 |
122,251,244 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8933:Ccdc63
|
UTSW |
5 |
122,251,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Ccdc63
|
UTSW |
5 |
122,247,346 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9136:Ccdc63
|
UTSW |
5 |
122,259,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Ccdc63
|
UTSW |
5 |
122,247,238 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTCTCAGGGTTATCAAGGGCCAC -3'
(R):5'- AGCTCTAAAGGGCTTTCCAACCG -3'
Sequencing Primer
(F):5'- GTTATCAAGGGCCACATAGACCTC -3'
(R):5'- TGCTCAGCCCAGCATGATG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation