Incidental Mutation 'R9459:Ccdc30'
ID |
714749 |
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 # |
R9459 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
119179665-119272718 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119234470 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 81
(R81G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081332
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044781]
[ENSMUST00000063642]
[ENSMUST00000084307]
[ENSMUST00000143494]
|
AlphaFold |
Q8BVF4 |
Predicted Effect |
probably benign
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: R81G
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000081332 Gene: ENSMUSG00000028637 AA Change: R81G
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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
A |
5: 8,735,414 (GRCm39) |
|
probably null |
Het |
Alms1 |
T |
A |
6: 85,604,946 (GRCm39) |
C2199S |
probably damaging |
Het |
Aox3 |
A |
G |
1: 58,189,468 (GRCm39) |
I390V |
probably benign |
Het |
Ap3b2 |
T |
C |
7: 81,123,651 (GRCm39) |
N400S |
probably benign |
Het |
Baalc |
A |
T |
15: 38,797,419 (GRCm39) |
N70I |
probably benign |
Het |
Brca2 |
T |
A |
5: 150,464,094 (GRCm39) |
V1286D |
probably damaging |
Het |
Cd209g |
T |
C |
8: 4,185,610 (GRCm39) |
S15P |
probably benign |
Het |
Chrnb3 |
G |
A |
8: 27,883,884 (GRCm39) |
W207* |
probably null |
Het |
Cmpk2 |
C |
T |
12: 26,528,022 (GRCm39) |
T413M |
probably damaging |
Het |
Coq4 |
T |
A |
2: 29,678,562 (GRCm39) |
Y63N |
probably damaging |
Het |
Depdc5 |
T |
A |
5: 33,148,117 (GRCm39) |
S1478T |
probably damaging |
Het |
Etf1 |
A |
G |
18: 35,039,134 (GRCm39) |
F378L |
probably benign |
Het |
Exoc6 |
T |
C |
19: 37,574,341 (GRCm39) |
V324A |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,560,907 (GRCm39) |
L1200P |
probably benign |
Het |
Gadl1 |
T |
C |
9: 115,794,679 (GRCm39) |
W285R |
probably damaging |
Het |
Gbp3 |
A |
G |
3: 142,270,707 (GRCm39) |
|
probably null |
Het |
Gm14295 |
C |
T |
2: 176,499,165 (GRCm39) |
T5I |
possibly damaging |
Het |
Hps4 |
T |
C |
5: 112,522,875 (GRCm39) |
S578P |
probably benign |
Het |
Kctd13 |
T |
A |
7: 126,544,254 (GRCm39) |
D317E |
probably damaging |
Het |
Kdm4b |
T |
A |
17: 56,706,509 (GRCm39) |
D881E |
probably benign |
Het |
Klf10 |
G |
A |
15: 38,296,171 (GRCm39) |
P473L |
probably damaging |
Het |
Lrch3 |
A |
T |
16: 32,799,775 (GRCm39) |
D371V |
probably damaging |
Het |
Msh2 |
T |
C |
17: 87,985,758 (GRCm39) |
S112P |
possibly damaging |
Het |
Msh3 |
A |
G |
13: 92,352,047 (GRCm39) |
V1036A |
possibly damaging |
Het |
Mybl1 |
A |
G |
1: 9,746,484 (GRCm39) |
V392A |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,722,380 (GRCm39) |
I1182V |
possibly damaging |
Het |
Nectin1 |
A |
C |
9: 43,715,090 (GRCm39) |
E442A |
probably benign |
Het |
Nscme3l |
T |
A |
19: 5,553,757 (GRCm39) |
H8L |
probably benign |
Het |
Obsl1 |
G |
T |
1: 75,474,884 (GRCm39) |
H839N |
probably benign |
Het |
Or4c105 |
T |
C |
2: 88,647,967 (GRCm39) |
F151L |
probably benign |
Het |
Or9i1b |
T |
C |
19: 13,896,674 (GRCm39) |
C97R |
possibly damaging |
Het |
Pacs1 |
C |
T |
19: 5,195,098 (GRCm39) |
|
probably null |
Het |
Pcdh17 |
G |
T |
14: 84,686,063 (GRCm39) |
E843D |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,228,572 (GRCm39) |
L1531P |
probably damaging |
Het |
Pdgfra |
A |
G |
5: 75,353,129 (GRCm39) |
D973G |
probably damaging |
Het |
Pkd2 |
A |
G |
5: 104,614,800 (GRCm39) |
Y214C |
probably damaging |
Het |
Plcb1 |
T |
C |
2: 135,164,558 (GRCm39) |
Y427H |
probably benign |
Het |
Ppm1h |
A |
G |
10: 122,743,482 (GRCm39) |
N402S |
possibly damaging |
Het |
Rassf4 |
T |
A |
6: 116,618,749 (GRCm39) |
|
probably null |
Het |
Ryr1 |
G |
A |
7: 28,768,068 (GRCm39) |
T2856I |
probably damaging |
Het |
Serpinb8 |
A |
T |
1: 107,533,520 (GRCm39) |
K192* |
probably null |
Het |
Slfn14 |
T |
G |
11: 83,170,198 (GRCm39) |
Q482P |
possibly damaging |
Het |
Spata2 |
A |
G |
2: 167,327,205 (GRCm39) |
V64A |
probably benign |
Het |
Tax1bp1 |
T |
G |
6: 52,706,314 (GRCm39) |
V105G |
probably damaging |
Het |
Tbc1d22a |
T |
G |
15: 86,120,021 (GRCm39) |
S142A |
possibly damaging |
Het |
Tdrd9 |
T |
C |
12: 111,992,007 (GRCm39) |
F594S |
probably damaging |
Het |
Uba3 |
T |
C |
6: 97,166,559 (GRCm39) |
I281V |
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,286,595 (GRCm39) |
E723G |
probably benign |
Het |
Usp20 |
C |
T |
2: 30,901,024 (GRCm39) |
S391F |
probably damaging |
Het |
Usp24 |
T |
A |
4: 106,199,555 (GRCm39) |
D166E |
probably damaging |
Het |
Vmn1r1 |
A |
G |
1: 181,985,503 (GRCm39) |
V54A |
probably benign |
Het |
Zfp442 |
T |
A |
2: 150,250,668 (GRCm39) |
E411D |
unknown |
Het |
Zfp804a |
T |
C |
2: 82,089,753 (GRCm39) |
I1194T |
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 |
|
R9354:Ccdc30
|
UTSW |
4 |
119,230,850 (GRCm39) |
missense |
possibly damaging |
0.86 |
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'- AACCGCGTTATACGTCACTTC -3'
(R):5'- TTGTTAGGACCATTTCAAGAACCC -3'
Sequencing Primer
(F):5'- GCGTTATACGTCACTTCATTGTATG -3'
(R):5'- TTGGCTCAGTGGTTAAGAACACC -3'
|
Posted On |
2022-06-15 |