Incidental Mutation 'R3407:Ccdc30'
ID |
258310 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc30
|
Ensembl Gene |
ENSMUSG00000028637 |
Gene Name |
coiled-coil domain containing 30 |
Synonyms |
1700041C02Rik, 1700001O02Rik, 4930445I03Rik, 1700111D19Rik |
MMRRC Submission |
040625-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3407 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
119179665-119272718 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 119181778 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 577
(F577I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070621
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056458]
[ENSMUST00000063642]
[ENSMUST00000106317]
[ENSMUST00000106318]
[ENSMUST00000106319]
[ENSMUST00000106321]
[ENSMUST00000147077]
|
AlphaFold |
Q8BVF4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056458
|
SMART Domains |
Protein: ENSMUSP00000051221 Gene: ENSMUSG00000060288
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
14 |
176 |
5.8e-49 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063642
AA Change: F577I
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000070621 Gene: ENSMUSG00000028637 AA Change: F577I
Domain | Start | End | E-Value | Type |
Pfam:DUF4686
|
170 |
547 |
5.1e-155 |
PFAM |
low complexity region
|
555 |
568 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106317
|
SMART Domains |
Protein: ENSMUSP00000101924 Gene: ENSMUSG00000060288
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
14 |
170 |
2.4e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106318
|
SMART Domains |
Protein: ENSMUSP00000101925 Gene: ENSMUSG00000060288
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
14 |
176 |
5.8e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106319
|
SMART Domains |
Protein: ENSMUSP00000101926 Gene: ENSMUSG00000060288
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
14 |
132 |
8.3e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106321
|
SMART Domains |
Protein: ENSMUSP00000101928 Gene: ENSMUSG00000060288
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
14 |
176 |
5.8e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147077
|
SMART Domains |
Protein: ENSMUSP00000118407 Gene: ENSMUSG00000060288
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
2 |
157 |
2.9e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154606
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg4 |
A |
T |
X: 56,013,487 (GRCm39) |
I2838F |
probably damaging |
Het |
Agbl2 |
G |
A |
2: 90,621,962 (GRCm39) |
V150I |
probably damaging |
Het |
Ambra1 |
T |
C |
2: 91,740,652 (GRCm39) |
S924P |
probably damaging |
Het |
Arfgap3 |
T |
C |
15: 83,206,808 (GRCm39) |
D260G |
probably benign |
Het |
Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
Bag3 |
TAAAG |
TAAAGAAAG |
7: 128,147,492 (GRCm39) |
|
probably null |
Het |
Cacnb3 |
T |
C |
15: 98,539,068 (GRCm39) |
V167A |
probably benign |
Het |
Carm1 |
C |
T |
9: 21,497,478 (GRCm39) |
R347W |
probably damaging |
Het |
Ces3a |
T |
A |
8: 105,777,199 (GRCm39) |
V174E |
probably damaging |
Het |
Cobl |
T |
C |
11: 12,325,830 (GRCm39) |
Y215C |
probably damaging |
Het |
Cybrd1 |
A |
T |
2: 70,948,470 (GRCm39) |
M3L |
probably damaging |
Het |
Dis3 |
A |
G |
14: 99,336,212 (GRCm39) |
V98A |
probably benign |
Het |
Dsg1c |
G |
A |
18: 20,415,115 (GRCm39) |
|
probably null |
Het |
Eif4a1 |
A |
T |
11: 69,561,089 (GRCm39) |
V72E |
probably damaging |
Het |
Fmn1 |
A |
T |
2: 113,195,400 (GRCm39) |
I367F |
unknown |
Het |
Fnbp1l |
A |
C |
3: 122,345,799 (GRCm39) |
W229G |
probably damaging |
Het |
Inka1 |
C |
T |
9: 107,862,253 (GRCm39) |
R23Q |
probably damaging |
Het |
Ints6 |
A |
T |
14: 62,934,386 (GRCm39) |
I707K |
probably benign |
Het |
Ipo8 |
T |
C |
6: 148,723,207 (GRCm39) |
D70G |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,927,900 (GRCm39) |
L1014P |
probably damaging |
Het |
Kif9 |
T |
C |
9: 110,348,208 (GRCm39) |
L677P |
probably damaging |
Het |
Mbd1 |
A |
G |
18: 74,410,438 (GRCm39) |
K414E |
possibly damaging |
Het |
Mfsd1 |
T |
A |
3: 67,504,046 (GRCm39) |
M346K |
possibly damaging |
Het |
Mthfr |
T |
C |
4: 148,139,518 (GRCm39) |
I66T |
probably damaging |
Het |
Myh10 |
T |
G |
11: 68,681,037 (GRCm39) |
L989R |
possibly damaging |
Het |
Ncan |
G |
A |
8: 70,564,801 (GRCm39) |
T271I |
probably damaging |
Het |
Or10ag53 |
A |
C |
2: 87,083,243 (GRCm39) |
T321P |
probably benign |
Het |
Or9s23 |
A |
G |
1: 92,501,675 (GRCm39) |
T261A |
probably damaging |
Het |
Pate2 |
C |
T |
9: 35,582,262 (GRCm39) |
T80I |
probably damaging |
Het |
Pcdhb15 |
A |
G |
18: 37,607,442 (GRCm39) |
T225A |
possibly damaging |
Het |
Pde4dip |
C |
A |
3: 97,661,784 (GRCm39) |
L640F |
probably damaging |
Het |
Plch1 |
A |
G |
3: 63,606,768 (GRCm39) |
|
probably benign |
Het |
Pus3 |
C |
T |
9: 35,478,021 (GRCm39) |
R418C |
probably damaging |
Het |
Sall2 |
G |
T |
14: 52,565,561 (GRCm39) |
N24K |
probably benign |
Het |
Sh3bp4 |
G |
T |
1: 89,072,769 (GRCm39) |
C539F |
possibly damaging |
Het |
Smco3 |
A |
G |
6: 136,808,425 (GRCm39) |
S150P |
probably benign |
Het |
Spag17 |
G |
T |
3: 99,992,615 (GRCm39) |
A1704S |
probably benign |
Het |
Tecta |
A |
T |
9: 42,249,150 (GRCm39) |
I1904N |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,536,281 (GRCm39) |
K33280* |
probably null |
Het |
Uggt2 |
T |
C |
14: 119,328,682 (GRCm39) |
D90G |
probably benign |
Het |
Vmn1r21 |
C |
T |
6: 57,820,877 (GRCm39) |
G189D |
probably damaging |
Het |
Zbtb10 |
A |
G |
3: 9,329,926 (GRCm39) |
N428S |
probably damaging |
Het |
Zfp407 |
G |
A |
18: 84,576,997 (GRCm39) |
A1372V |
probably benign |
Het |
|
Other mutations in Ccdc30 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01014:Ccdc30
|
APN |
4 |
119,250,776 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01546:Ccdc30
|
APN |
4 |
119,255,385 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01691:Ccdc30
|
APN |
4 |
119,250,761 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02178:Ccdc30
|
APN |
4 |
119,206,921 (GRCm39) |
unclassified |
probably benign |
|
IGL02341:Ccdc30
|
APN |
4 |
119,213,978 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL03063:Ccdc30
|
APN |
4 |
119,206,964 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL03394:Ccdc30
|
APN |
4 |
119,216,779 (GRCm39) |
missense |
probably damaging |
1.00 |
doubledip
|
UTSW |
4 |
119,181,253 (GRCm39) |
missense |
probably damaging |
0.99 |
ladle
|
UTSW |
4 |
119,190,920 (GRCm39) |
critical splice acceptor site |
probably null |
|
G1patch:Ccdc30
|
UTSW |
4 |
119,188,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R1587:Ccdc30
|
UTSW |
4 |
119,210,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R1604:Ccdc30
|
UTSW |
4 |
119,188,793 (GRCm39) |
missense |
probably damaging |
0.99 |
R1842:Ccdc30
|
UTSW |
4 |
119,188,324 (GRCm39) |
missense |
probably benign |
|
R1962:Ccdc30
|
UTSW |
4 |
119,196,988 (GRCm39) |
missense |
probably benign |
0.00 |
R2157:Ccdc30
|
UTSW |
4 |
119,190,921 (GRCm39) |
splice site |
probably benign |
|
R2314:Ccdc30
|
UTSW |
4 |
119,181,763 (GRCm39) |
nonsense |
probably null |
|
R2362:Ccdc30
|
UTSW |
4 |
119,181,253 (GRCm39) |
missense |
probably damaging |
0.99 |
R3755:Ccdc30
|
UTSW |
4 |
119,225,005 (GRCm39) |
critical splice donor site |
probably null |
|
R3938:Ccdc30
|
UTSW |
4 |
119,209,870 (GRCm39) |
missense |
probably benign |
0.02 |
R4762:Ccdc30
|
UTSW |
4 |
119,190,785 (GRCm39) |
missense |
probably damaging |
0.98 |
R5014:Ccdc30
|
UTSW |
4 |
119,250,824 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5635:Ccdc30
|
UTSW |
4 |
119,216,871 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6282:Ccdc30
|
UTSW |
4 |
119,181,214 (GRCm39) |
missense |
probably damaging |
0.98 |
R6382:Ccdc30
|
UTSW |
4 |
119,261,363 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6725:Ccdc30
|
UTSW |
4 |
119,188,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R6746:Ccdc30
|
UTSW |
4 |
119,213,915 (GRCm39) |
missense |
probably benign |
0.03 |
R7230:Ccdc30
|
UTSW |
4 |
119,196,979 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7576:Ccdc30
|
UTSW |
4 |
119,207,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R7673:Ccdc30
|
UTSW |
4 |
119,210,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R7719:Ccdc30
|
UTSW |
4 |
119,190,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R7895:Ccdc30
|
UTSW |
4 |
119,209,910 (GRCm39) |
splice site |
probably null |
|
R8021:Ccdc30
|
UTSW |
4 |
119,209,876 (GRCm39) |
missense |
probably benign |
0.00 |
R8113:Ccdc30
|
UTSW |
4 |
119,230,943 (GRCm39) |
missense |
probably benign |
0.32 |
R8696:Ccdc30
|
UTSW |
4 |
119,234,505 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8713:Ccdc30
|
UTSW |
4 |
119,261,404 (GRCm39) |
missense |
probably damaging |
0.99 |
R8885:Ccdc30
|
UTSW |
4 |
119,181,759 (GRCm39) |
missense |
probably damaging |
0.97 |
R8948:Ccdc30
|
UTSW |
4 |
119,181,358 (GRCm39) |
missense |
probably benign |
|
R9337:Ccdc30
|
UTSW |
4 |
119,190,920 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9354:Ccdc30
|
UTSW |
4 |
119,230,850 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9459:Ccdc30
|
UTSW |
4 |
119,234,470 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9563:Ccdc30
|
UTSW |
4 |
119,250,821 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9565:Ccdc30
|
UTSW |
4 |
119,250,821 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCCCCTACCTGAGATTGGTATTC -3'
(R):5'- AAGCCTGTCCCAAGATGGAG -3'
Sequencing Primer
(F):5'- CCCTACCTGAGATTGGTATTCTGTAG -3'
(R):5'- AGTAGGTTTGGCCTCTCAACAGTC -3'
|
Posted On |
2015-01-23 |