Incidental Mutation 'R2314:Ccdc30'
ID |
245404 |
Institutional Source |
Beutler Lab
|
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 # |
R2314 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
119179665-119272718 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 119181763 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 582
(K582*)
|
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 |
probably null
Transcript: ENSMUST00000063642
AA Change: K582*
|
SMART Domains |
Protein: ENSMUSP00000070621 Gene: ENSMUSG00000028637 AA Change: K582*
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdhppt |
A |
G |
9: 4,309,322 (GRCm39) |
S39P |
probably damaging |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Anxa6 |
T |
A |
11: 54,902,561 (GRCm39) |
I58F |
probably damaging |
Het |
Cebpz |
A |
G |
17: 79,227,976 (GRCm39) |
|
probably null |
Het |
Clstn3 |
T |
A |
6: 124,427,676 (GRCm39) |
D473V |
probably benign |
Het |
Cry1 |
A |
T |
10: 84,969,175 (GRCm39) |
C550S |
probably benign |
Het |
Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
Dolk |
G |
T |
2: 30,175,497 (GRCm39) |
L183M |
probably damaging |
Het |
Dpys |
T |
C |
15: 39,691,486 (GRCm39) |
T279A |
possibly damaging |
Het |
Drd4 |
T |
C |
7: 140,873,854 (GRCm39) |
Y140H |
probably damaging |
Het |
Duox1 |
C |
A |
2: 122,164,211 (GRCm39) |
C890* |
probably null |
Het |
Epha2 |
T |
A |
4: 141,046,325 (GRCm39) |
V508E |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
Fgfr1 |
C |
T |
8: 26,060,909 (GRCm39) |
S527F |
probably damaging |
Het |
Flywch1 |
A |
G |
17: 23,982,000 (GRCm39) |
V68A |
probably benign |
Het |
Gm21834 |
A |
T |
17: 58,049,210 (GRCm39) |
V2E |
possibly damaging |
Het |
Gm7853 |
A |
T |
14: 35,811,621 (GRCm39) |
|
noncoding transcript |
Het |
Igf2r |
T |
A |
17: 12,934,830 (GRCm39) |
H713L |
probably benign |
Het |
Iqgap3 |
T |
C |
3: 88,023,338 (GRCm39) |
V543A |
probably benign |
Het |
Kcnq5 |
T |
A |
1: 21,549,595 (GRCm39) |
|
probably null |
Het |
Lsm1 |
C |
T |
8: 26,275,712 (GRCm39) |
P5S |
possibly damaging |
Het |
Marchf1 |
T |
C |
8: 66,574,442 (GRCm39) |
M1T |
probably null |
Het |
Myocd |
T |
C |
11: 65,091,633 (GRCm39) |
H103R |
probably damaging |
Het |
Myom2 |
C |
T |
8: 15,113,927 (GRCm39) |
T25I |
probably damaging |
Het |
Nck1 |
T |
C |
9: 100,380,003 (GRCm39) |
K83E |
probably damaging |
Het |
Nid2 |
A |
G |
14: 19,839,829 (GRCm39) |
D806G |
probably benign |
Het |
Onecut2 |
G |
T |
18: 64,474,268 (GRCm39) |
R254L |
probably damaging |
Het |
Or51k1 |
T |
A |
7: 103,661,436 (GRCm39) |
M158L |
probably benign |
Het |
Plxna1 |
A |
C |
6: 89,301,298 (GRCm39) |
L1534R |
probably damaging |
Het |
Polb |
C |
A |
8: 23,130,018 (GRCm39) |
A185S |
possibly damaging |
Het |
Pou3f3 |
T |
C |
1: 42,737,651 (GRCm39) |
V449A |
probably damaging |
Het |
Pskh1 |
C |
T |
8: 106,640,145 (GRCm39) |
T275I |
probably damaging |
Het |
Rab18 |
C |
A |
18: 6,788,516 (GRCm39) |
A161D |
probably damaging |
Het |
Rrp8 |
T |
C |
7: 105,384,011 (GRCm39) |
R164G |
probably benign |
Het |
Sacs |
T |
A |
14: 61,445,208 (GRCm39) |
I2418K |
probably benign |
Het |
Scrn1 |
T |
C |
6: 54,502,631 (GRCm39) |
E136G |
probably benign |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Slitrk6 |
C |
T |
14: 110,989,387 (GRCm39) |
A107T |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,723,783 (GRCm39) |
S466G |
probably benign |
Het |
Tktl2 |
T |
A |
8: 66,965,795 (GRCm39) |
F451Y |
probably damaging |
Het |
Tnks1bp1 |
G |
A |
2: 84,889,259 (GRCm39) |
V529M |
probably benign |
Het |
Trps1 |
T |
C |
15: 50,524,742 (GRCm39) |
K874E |
probably damaging |
Het |
Ttll9 |
T |
A |
2: 152,825,047 (GRCm39) |
D75E |
probably benign |
Het |
Ttn |
A |
G |
2: 76,596,368 (GRCm39) |
Y20182H |
probably damaging |
Het |
Ufc1 |
A |
T |
1: 171,116,821 (GRCm39) |
C116S |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Zfp809 |
A |
G |
9: 22,149,976 (GRCm39) |
K158E |
possibly damaging |
Het |
Zfp81 |
A |
G |
17: 33,553,597 (GRCm39) |
Y406H |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGTGGATTATCCCCTACCTGAG -3'
(R):5'- AGAAGCCTGTCCCAAGATGG -3'
Sequencing Primer
(F):5'- GGATTATCCCCTACCTGAGATTGG -3'
(R):5'- GAGTAGGTTTGGCCTCTCAACAG -3'
|
Posted On |
2014-10-30 |