Incidental Mutation 'R3755:Ccdc30'
ID |
271382 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc30
|
Ensembl Gene |
ENSMUSG00000028637 |
Gene Name |
coiled-coil domain containing 30 |
Synonyms |
1700041C02Rik, 1700001O02Rik, 4930445I03Rik, 1700111D19Rik |
MMRRC Submission |
040738-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3755 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
119179665-119272718 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 119225005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047534
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044781]
[ENSMUST00000063642]
[ENSMUST00000084307]
[ENSMUST00000143494]
|
AlphaFold |
Q8BVF4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000044781
|
SMART Domains |
Protein: ENSMUSP00000047534 Gene: ENSMUSG00000028637
Domain | Start | End | E-Value | Type |
low complexity region
|
85 |
99 |
N/A |
INTRINSIC |
Pfam:DUF4686
|
103 |
286 |
1.5e-78 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063642
|
SMART Domains |
Protein: ENSMUSP00000070621 Gene: ENSMUSG00000028637
Domain | Start | End | E-Value | Type |
Pfam:DUF4686
|
170 |
547 |
5.1e-155 |
PFAM |
low complexity region
|
555 |
568 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084307
AA Change: V226E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000081332 Gene: ENSMUSG00000028637 AA Change: V226E
Domain | Start | End | E-Value | Type |
coiled coil region
|
16 |
43 |
N/A |
INTRINSIC |
coiled coil region
|
85 |
115 |
N/A |
INTRINSIC |
low complexity region
|
209 |
223 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127149
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143494
|
SMART Domains |
Protein: ENSMUSP00000118202 Gene: ENSMUSG00000028637
Domain | Start | End | E-Value | Type |
Pfam:DUF4686
|
31 |
169 |
3.1e-63 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148236
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152879
|
Meta Mutation Damage Score |
0.9487 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
96% (50/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
C |
A |
10: 29,098,110 (GRCm39) |
S169Y |
probably damaging |
Het |
Abcb1a |
G |
A |
5: 8,797,403 (GRCm39) |
V1225M |
possibly damaging |
Het |
Adamdec1 |
A |
T |
14: 68,814,587 (GRCm39) |
I130N |
probably damaging |
Het |
Atf7ip |
T |
A |
6: 136,537,815 (GRCm39) |
N357K |
probably benign |
Het |
Bace2 |
C |
G |
16: 97,237,857 (GRCm39) |
T436R |
probably benign |
Het |
Capn13 |
G |
A |
17: 73,638,114 (GRCm39) |
Q430* |
probably null |
Het |
Ces5a |
T |
C |
8: 94,255,130 (GRCm39) |
T184A |
probably benign |
Het |
Cntnap5c |
T |
C |
17: 58,411,594 (GRCm39) |
C493R |
possibly damaging |
Het |
Creb3l2 |
A |
T |
6: 37,340,961 (GRCm39) |
I146N |
possibly damaging |
Het |
Erich3 |
A |
G |
3: 154,469,958 (GRCm39) |
|
probably benign |
Het |
Etl4 |
G |
A |
2: 20,748,348 (GRCm39) |
V27I |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,808,561 (GRCm39) |
D1627N |
probably benign |
Het |
Gcdh |
A |
G |
8: 85,620,109 (GRCm39) |
|
probably benign |
Het |
Kcna7 |
T |
C |
7: 45,058,369 (GRCm39) |
F219L |
probably benign |
Het |
Kdm3b |
T |
C |
18: 34,941,349 (GRCm39) |
L280S |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,933,060 (GRCm39) |
V2073D |
probably damaging |
Het |
Kprp |
A |
G |
3: 92,732,346 (GRCm39) |
S235P |
unknown |
Het |
Lpp |
A |
G |
16: 24,663,911 (GRCm39) |
H396R |
probably benign |
Het |
Lrch4 |
T |
A |
5: 137,635,992 (GRCm39) |
D348E |
probably damaging |
Het |
Mcm9 |
T |
C |
10: 53,502,048 (GRCm39) |
N179S |
probably benign |
Het |
Mettl13 |
T |
C |
1: 162,371,789 (GRCm39) |
E360G |
probably damaging |
Het |
Nfib |
A |
T |
4: 82,241,936 (GRCm39) |
S418R |
probably damaging |
Het |
Or52b1 |
A |
G |
7: 104,979,358 (GRCm39) |
F14L |
probably damaging |
Het |
Or8s2 |
A |
C |
15: 98,276,463 (GRCm39) |
I176S |
probably benign |
Het |
Pcdha8 |
G |
A |
18: 37,126,741 (GRCm39) |
V408M |
probably damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,435,878 (GRCm39) |
F615L |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,359,171 (GRCm39) |
T844I |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,452,802 (GRCm39) |
E3909V |
probably damaging |
Het |
Poldip3 |
A |
G |
15: 83,015,676 (GRCm39) |
|
probably benign |
Het |
Ptpn1 |
T |
C |
2: 167,816,143 (GRCm39) |
I219T |
probably damaging |
Het |
Rad18 |
T |
C |
6: 112,670,432 (GRCm39) |
N44S |
probably damaging |
Het |
Reep5 |
T |
C |
18: 34,505,527 (GRCm39) |
Y48C |
probably damaging |
Het |
Rgl2 |
C |
A |
17: 34,151,571 (GRCm39) |
A205D |
probably benign |
Het |
Rundc3a |
A |
G |
11: 102,290,085 (GRCm39) |
I175V |
possibly damaging |
Het |
Slamf1 |
C |
T |
1: 171,604,728 (GRCm39) |
A166V |
probably damaging |
Het |
Slc4a5 |
A |
G |
6: 83,265,285 (GRCm39) |
D693G |
probably benign |
Het |
Snap23 |
T |
A |
2: 120,416,726 (GRCm39) |
C79S |
probably damaging |
Het |
Spag6l |
A |
C |
16: 16,580,884 (GRCm39) |
|
probably null |
Het |
Trappc13 |
C |
T |
13: 104,305,068 (GRCm39) |
D40N |
probably benign |
Het |
Trav4-3 |
C |
A |
14: 53,836,596 (GRCm39) |
S20R |
probably benign |
Het |
Tssk2 |
G |
A |
16: 17,716,827 (GRCm39) |
E77K |
probably damaging |
Het |
Ubap2 |
A |
G |
4: 41,195,482 (GRCm39) |
F1051S |
probably damaging |
Het |
Ugt3a1 |
A |
G |
15: 9,367,498 (GRCm39) |
T414A |
probably benign |
Het |
Urod |
C |
T |
4: 116,850,601 (GRCm39) |
C66Y |
probably damaging |
Het |
Vmn1r234 |
A |
G |
17: 21,449,271 (GRCm39) |
K62E |
probably damaging |
Het |
Wiz |
A |
G |
17: 32,578,106 (GRCm39) |
S460P |
probably damaging |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
Zbtb7a |
C |
T |
10: 80,980,100 (GRCm39) |
T98M |
probably damaging |
Het |
Zfp524 |
C |
A |
7: 5,020,884 (GRCm39) |
H137Q |
probably damaging |
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 |
R3407:Ccdc30
|
UTSW |
4 |
119,181,778 (GRCm39) |
missense |
possibly damaging |
0.63 |
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'- TCAGCAGGTTCAGGCTTTGG -3'
(R):5'- GTCACTATCCTGCCACAAGAATATTTG -3'
Sequencing Primer
(F):5'- GGTTGTAATTTTATTACCGCTCAAG -3'
(R):5'- TTTGTACCAAGTTCTGAATTAGGAG -3'
|
Posted On |
2015-03-18 |