Incidental Mutation 'IGL03394:Ccdc30'
| ID |
421201 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc30
|
| Ensembl Gene |
ENSMUSG00000028637 |
| Gene Name |
coiled-coil domain containing 30 |
| Synonyms |
1700041C02Rik, 1700001O02Rik, 4930445I03Rik, 1700111D19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03394
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
119179665-119272718 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119216779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 220
(S220R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044781]
[ENSMUST00000063642]
[ENSMUST00000143494]
|
| AlphaFold |
Q8BVF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044781
AA Change: S153R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047534
Gene: ENSMUSG00000028637
AA Change: S153R
| 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 damaging
Transcript: ENSMUST00000063642
AA Change: S220R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070621
Gene: ENSMUSG00000028637
AA Change: S220R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4686
|
170 |
547 |
5.1e-155 |
PFAM |
|
low complexity region
|
555 |
568 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124048
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131141
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143494
AA Change: S81R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118202
Gene: ENSMUSG00000028637
AA Change: S81R
| 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: ENSMUST00000154606
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
G |
17: 46,635,277 (GRCm39) |
L242P |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,217,379 (GRCm39) |
I139V |
probably benign |
Het |
| Ahr |
G |
T |
12: 35,553,751 (GRCm39) |
Y789* |
probably null |
Het |
| Ankrd27 |
C |
A |
7: 35,306,523 (GRCm39) |
|
probably null |
Het |
| Ano1 |
T |
C |
7: 144,149,176 (GRCm39) |
|
probably null |
Het |
| Ap4e1 |
T |
A |
2: 126,905,317 (GRCm39) |
M996K |
probably benign |
Het |
| Bglap |
T |
C |
3: 88,291,312 (GRCm39) |
K42E |
probably benign |
Het |
| Clic5 |
A |
G |
17: 44,548,105 (GRCm39) |
N50S |
probably benign |
Het |
| Csnk2a1-ps3 |
A |
T |
1: 156,352,792 (GRCm39) |
Q331L |
probably benign |
Het |
| Cyp20a1 |
T |
G |
1: 60,405,840 (GRCm39) |
D211E |
probably damaging |
Het |
| Dctn1 |
G |
A |
6: 83,168,266 (GRCm39) |
V408I |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,588,020 (GRCm39) |
I551T |
probably benign |
Het |
| Fat4 |
C |
T |
3: 38,946,168 (GRCm39) |
T1687M |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,063,513 (GRCm39) |
C4490S |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,815,336 (GRCm39) |
I1351N |
probably damaging |
Het |
| Igkv2-116 |
T |
C |
6: 68,129,327 (GRCm39) |
|
noncoding transcript |
Het |
| Iws1 |
T |
G |
18: 32,221,301 (GRCm39) |
|
probably benign |
Het |
| Mlh1 |
A |
T |
9: 111,097,311 (GRCm39) |
I61N |
probably damaging |
Het |
| Mtmr7 |
C |
T |
8: 41,061,972 (GRCm39) |
V38M |
probably damaging |
Het |
| Myh7 |
G |
T |
14: 55,212,818 (GRCm39) |
A1409D |
probably damaging |
Het |
| Myt1 |
A |
T |
2: 181,439,638 (GRCm39) |
I387F |
probably damaging |
Het |
| Nars2 |
A |
G |
7: 96,689,220 (GRCm39) |
N381D |
possibly damaging |
Het |
| Nsd3 |
T |
C |
8: 26,165,765 (GRCm39) |
|
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,617,933 (GRCm39) |
S162P |
probably damaging |
Het |
| Oog2 |
T |
C |
4: 143,920,576 (GRCm39) |
F3S |
probably benign |
Het |
| Or8b1b |
A |
G |
9: 38,375,517 (GRCm39) |
Y60C |
probably damaging |
Het |
| Oxgr1 |
T |
C |
14: 120,260,022 (GRCm39) |
M62V |
possibly damaging |
Het |
| Pcgf1 |
A |
G |
6: 83,056,121 (GRCm39) |
Y75C |
probably damaging |
Het |
| Ppp3cc |
C |
A |
14: 70,462,477 (GRCm39) |
E396* |
probably null |
Het |
| Ptx4 |
T |
A |
17: 25,343,649 (GRCm39) |
C300S |
probably damaging |
Het |
| Rassf4 |
C |
T |
6: 116,618,708 (GRCm39) |
V192I |
probably damaging |
Het |
| Rundc3b |
T |
C |
5: 8,598,261 (GRCm39) |
T203A |
possibly damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,199,603 (GRCm39) |
D306G |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,398 (GRCm39) |
E313G |
possibly damaging |
Het |
| Snx5 |
G |
A |
2: 144,095,674 (GRCm39) |
A329V |
probably damaging |
Het |
| Stx1b |
T |
C |
7: 127,407,056 (GRCm39) |
D213G |
probably damaging |
Het |
| Tpd52l2 |
G |
A |
2: 181,156,879 (GRCm39) |
V172I |
probably benign |
Het |
| Trim50 |
A |
T |
5: 135,392,807 (GRCm39) |
I241F |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,580,760 (GRCm39) |
H23378Y |
probably benign |
Het |
| Vmn1r193 |
T |
A |
13: 22,403,939 (GRCm39) |
M18L |
probably benign |
Het |
| Vmn1r226 |
A |
G |
17: 20,908,446 (GRCm39) |
N226S |
probably benign |
Het |
| Vmn2r14 |
T |
A |
5: 109,367,702 (GRCm39) |
Q430L |
probably null |
Het |
| Xirp2 |
T |
A |
2: 67,345,538 (GRCm39) |
V2593D |
probably damaging |
Het |
| Zfp169 |
A |
T |
13: 48,643,400 (GRCm39) |
F576I |
possibly damaging |
Het |
| Zfp667 |
T |
C |
7: 6,292,438 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
A |
G |
11: 72,777,601 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation