Incidental Mutation 'R9354:Ccdc30'
| ID |
708254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc30
|
| Ensembl Gene |
ENSMUSG00000028637 |
| Gene Name |
coiled-coil domain containing 30 |
| Synonyms |
1700041C02Rik, 1700001O02Rik, 4930445I03Rik, 1700111D19Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9354 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
119179665-119272718 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 119230850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 15
(P15Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044781]
[ENSMUST00000063642]
[ENSMUST00000084307]
[ENSMUST00000143494]
|
| AlphaFold |
Q8BVF4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044781
AA Change: P15Q
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047534
Gene: ENSMUSG00000028637
AA Change: P15Q
| 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: P139Q
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000081332
Gene: ENSMUSG00000028637
AA Change: P139Q
| 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 |
probably benign
Transcript: ENSMUST00000143494
|
| SMART Domains |
Protein: ENSMUSP00000118202
Gene: ENSMUSG00000028637
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4686
|
31 |
169 |
3.1e-63 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,436,873 (GRCm39) |
Q181R |
unknown |
Het |
| Acsl1 |
T |
G |
8: 46,966,753 (GRCm39) |
C242G |
probably benign |
Het |
| Agap2 |
A |
C |
10: 126,923,104 (GRCm39) |
N646T |
unknown |
Het |
| Ankrd44 |
A |
T |
1: 54,687,438 (GRCm39) |
*994R |
probably null |
Het |
| Apol7c |
C |
T |
15: 77,410,112 (GRCm39) |
R278H |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,921,401 (GRCm39) |
E2166G |
probably benign |
Het |
| Caskin2 |
G |
A |
11: 115,693,468 (GRCm39) |
T528M |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,779,389 (GRCm39) |
S400G |
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,379,114 (GRCm39) |
T45I |
|
Het |
| Cep68 |
T |
C |
11: 20,188,569 (GRCm39) |
E612G |
probably damaging |
Het |
| Chpf2 |
T |
C |
5: 24,796,392 (GRCm39) |
L446P |
probably damaging |
Het |
| Ctsl |
A |
T |
13: 64,516,850 (GRCm39) |
Y40N |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,221,922 (GRCm39) |
N496S |
probably benign |
Het |
| Espnl |
A |
T |
1: 91,272,323 (GRCm39) |
D561V |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,818,411 (GRCm38) |
L87Q |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,232,825 (GRCm39) |
I276F |
possibly damaging |
Het |
| Gid4 |
G |
T |
11: 60,308,618 (GRCm39) |
R46L |
probably benign |
Het |
| Gper1 |
G |
A |
5: 139,412,029 (GRCm39) |
D125N |
possibly damaging |
Het |
| Gpr146 |
A |
G |
5: 139,378,366 (GRCm39) |
N56S |
probably benign |
Het |
| Grhpr |
G |
T |
4: 44,981,465 (GRCm39) |
R5L |
probably benign |
Het |
| Gstm6 |
A |
T |
3: 107,850,018 (GRCm39) |
N59K |
probably damaging |
Het |
| Hdac7 |
A |
T |
15: 97,694,769 (GRCm39) |
F802L |
probably damaging |
Het |
| Igfbpl1 |
A |
T |
4: 45,816,348 (GRCm39) |
V159D |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,237,668 (GRCm39) |
S351G |
possibly damaging |
Het |
| Itgad |
C |
A |
7: 127,785,146 (GRCm39) |
H354Q |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,059,875 (GRCm39) |
S641P |
probably damaging |
Het |
| Klhl33 |
T |
C |
14: 51,130,385 (GRCm39) |
T110A |
probably benign |
Het |
| Lcorl |
T |
A |
5: 45,890,968 (GRCm39) |
K545* |
probably null |
Het |
| Lilra6 |
A |
G |
7: 3,914,628 (GRCm39) |
S546P |
probably damaging |
Het |
| Ly6c1 |
T |
A |
15: 74,916,471 (GRCm39) |
I124F |
probably benign |
Het |
| Map4 |
A |
G |
9: 109,897,847 (GRCm39) |
T858A |
probably benign |
Het |
| Marchf5 |
G |
T |
19: 37,185,264 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,307,157 (GRCm39) |
K769E |
|
Het |
| Myh6 |
T |
A |
14: 55,200,992 (GRCm39) |
I157F |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,563,994 (GRCm39) |
V389A |
probably benign |
Het |
| Or52b3 |
G |
A |
7: 102,204,397 (GRCm39) |
R302H |
possibly damaging |
Het |
| Pcdhgc4 |
A |
G |
18: 37,949,640 (GRCm39) |
H352R |
probably benign |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Pick1 |
T |
C |
15: 79,123,848 (GRCm39) |
V73A |
probably damaging |
Het |
| Ppwd1 |
C |
T |
13: 104,342,080 (GRCm39) |
V625I |
probably benign |
Het |
| Prss59 |
A |
G |
6: 40,905,473 (GRCm39) |
V61A |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,099,986 (GRCm39) |
E1830G |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,279,313 (GRCm39) |
N445S |
possibly damaging |
Het |
| Rapgef6 |
G |
T |
11: 54,510,749 (GRCm39) |
R222L |
possibly damaging |
Het |
| Rorc |
A |
T |
3: 94,280,170 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
A |
C |
4: 133,594,432 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,725,757 (GRCm39) |
Y1164C |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,902 (GRCm39) |
Y304* |
probably null |
Het |
| Slc26a4 |
A |
T |
12: 31,585,255 (GRCm39) |
V513D |
possibly damaging |
Het |
| Slf2 |
T |
A |
19: 44,936,471 (GRCm39) |
D705E |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,934,905 (GRCm39) |
T704A |
probably benign |
Het |
| Tex15 |
C |
G |
8: 34,063,344 (GRCm39) |
Q925E |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,969,875 (GRCm39) |
T145S |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,425,696 (GRCm39) |
C17Y |
probably benign |
Het |
| Usp42 |
A |
G |
5: 143,701,027 (GRCm39) |
Y999H |
probably benign |
Het |
| Vat1 |
A |
C |
11: 101,351,441 (GRCm39) |
M300R |
probably benign |
Het |
| Vmn1r85 |
T |
A |
7: 12,818,725 (GRCm39) |
I140F |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,049,663 (GRCm39) |
I695M |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 119,942,660 (GRCm39) |
R789Q |
unknown |
Het |
| Zswim5 |
G |
A |
4: 116,844,232 (GRCm39) |
G1090D |
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 |
|
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 |
|
|
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'- CTAAGTGCAGGTGGTACCAC -3'
(R):5'- TAGCTCCAGGCAGTAATTAAGC -3'
Sequencing Primer
(F):5'- TGGTACCACAGTCACTGCC -3'
(R):5'- GCTCCAGGCAGTAATTAAGCACTTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation