Incidental Mutation 'R8713:Ccdc30'
| ID |
669698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc30
|
| Ensembl Gene |
ENSMUSG00000028637 |
| Gene Name |
coiled-coil domain containing 30 |
| Synonyms |
1700041C02Rik, 1700001O02Rik, 4930445I03Rik, 1700111D19Rik |
| MMRRC Submission |
068567-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
119179665-119272718 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119261404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 11
(L11Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063642]
|
| AlphaFold |
Q8BVF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063642
AA Change: L11Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070621
Gene: ENSMUSG00000028637
AA Change: L11Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4686
|
170 |
547 |
5.1e-155 |
PFAM |
|
low complexity region
|
555 |
568 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 36,030,518 (GRCm39) |
A581V |
possibly damaging |
Het |
| Adam18 |
T |
A |
8: 25,142,189 (GRCm39) |
M196L |
probably benign |
Het |
| Ankrd10 |
A |
G |
8: 11,678,491 (GRCm39) |
S134P |
probably damaging |
Het |
| Ano8 |
C |
T |
8: 71,937,721 (GRCm39) |
G47D |
probably damaging |
Het |
| Arl6ip4 |
T |
C |
5: 124,254,825 (GRCm39) |
V4A |
unknown |
Het |
| Cabp4 |
C |
T |
19: 4,186,159 (GRCm39) |
M247I |
probably benign |
Het |
| Cdkl4 |
A |
G |
17: 80,841,292 (GRCm39) |
S288P |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,707,062 (GRCm39) |
I1182V |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,979,028 (GRCm39) |
D1788G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,352,701 (GRCm39) |
D193G |
probably damaging |
Het |
| Dym |
T |
G |
18: 75,189,809 (GRCm39) |
Y132* |
probably null |
Het |
| Dync2h1 |
G |
A |
9: 7,141,008 (GRCm39) |
Q1340* |
probably null |
Het |
| Elmo1 |
T |
C |
13: 20,458,791 (GRCm39) |
|
probably benign |
Het |
| Fbxw15 |
A |
C |
9: 109,384,667 (GRCm39) |
F378V |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,811,453 (GRCm39) |
G2591R |
probably damaging |
Het |
| Gps2 |
C |
A |
11: 69,806,180 (GRCm39) |
D148E |
probably benign |
Het |
| Iars2 |
T |
C |
1: 185,023,615 (GRCm39) |
D772G |
possibly damaging |
Het |
| Ifit1 |
T |
A |
19: 34,625,038 (GRCm39) |
L58Q |
probably benign |
Het |
| Kctd4 |
A |
T |
14: 76,200,366 (GRCm39) |
Q112H |
probably benign |
Het |
| Letm1 |
A |
G |
5: 33,919,849 (GRCm39) |
L230P |
probably damaging |
Het |
| Lrch4 |
G |
T |
5: 137,638,125 (GRCm39) |
E136* |
probably null |
Het |
| Macc1 |
T |
C |
12: 119,407,261 (GRCm39) |
|
probably benign |
Het |
| Macrod1 |
T |
C |
19: 7,034,494 (GRCm39) |
L79P |
probably benign |
Het |
| Map2 |
T |
A |
1: 66,453,781 (GRCm39) |
N890K |
probably damaging |
Het |
| Mctp1 |
G |
A |
13: 76,789,922 (GRCm39) |
S270N |
probably benign |
Het |
| Mrpl44 |
C |
T |
1: 79,755,708 (GRCm39) |
R105C |
probably damaging |
Het |
| Mtg1 |
T |
A |
7: 139,717,688 (GRCm39) |
|
probably null |
Het |
| Mtg1 |
T |
C |
7: 139,720,136 (GRCm39) |
F68L |
probably benign |
Het |
| Nfil3 |
A |
G |
13: 53,122,047 (GRCm39) |
S286P |
possibly damaging |
Het |
| Nutm1 |
A |
G |
2: 112,081,667 (GRCm39) |
V332A |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 59,026,792 (GRCm39) |
Q137L |
probably benign |
Het |
| Pcnx2 |
T |
G |
8: 126,545,525 (GRCm39) |
E1162A |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,900,818 (GRCm39) |
D117G |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,513,345 (GRCm39) |
C215R |
probably benign |
Het |
| Rrm1 |
T |
G |
7: 102,109,558 (GRCm39) |
Y461D |
probably damaging |
Het |
| Sbk3 |
C |
T |
7: 4,972,991 (GRCm39) |
V60I |
possibly damaging |
Het |
| Scube1 |
G |
T |
15: 83,494,471 (GRCm39) |
A852E |
possibly damaging |
Het |
| Sec24d |
T |
A |
3: 123,137,541 (GRCm39) |
I561N |
probably damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,218,901 (GRCm39) |
*501Q |
probably null |
Het |
| Slc6a19 |
C |
A |
13: 73,848,740 (GRCm39) |
V5L |
probably benign |
Het |
| Spryd3 |
A |
G |
15: 102,041,920 (GRCm39) |
I34T |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,266,040 (GRCm39) |
L2191P |
probably damaging |
Het |
| Tbrg1 |
A |
G |
9: 37,563,955 (GRCm39) |
C227R |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,935,910 (GRCm39) |
S1713P |
probably benign |
Het |
| Thap12 |
C |
T |
7: 98,356,283 (GRCm39) |
L57F |
probably benign |
Het |
| Top1 |
G |
A |
2: 160,559,360 (GRCm39) |
V628I |
probably damaging |
Het |
| Trim67 |
A |
G |
8: 125,547,074 (GRCm39) |
M495V |
probably null |
Het |
| Trio |
A |
C |
15: 27,744,037 (GRCm39) |
|
probably benign |
Het |
| Vmn2r23 |
A |
T |
6: 123,679,991 (GRCm39) |
Y71F |
|
Het |
| Ywhah |
A |
G |
5: 33,184,535 (GRCm39) |
N246S |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,797,794 (GRCm39) |
I125T |
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 |
|
R3407:Ccdc30
|
UTSW |
4 |
119,181,778 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
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 |
|
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'- ATGATGAGGTCTCAGGAGGC -3'
(R):5'- GAAAGTTTCCAAACACCCTGAAGG -3'
Sequencing Primer
(F):5'- CAGGAGGCCTGCTTTTTCACTAAG -3'
(R):5'- CCTGAAGGGATGGGGAGAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation