Incidental Mutation 'R5150:Ccdc47'
ID |
395314 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc47
|
Ensembl Gene |
ENSMUSG00000078622 |
Gene Name |
coiled-coil domain containing 47 |
Synonyms |
asp4, calumin, 2610204L23Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5150 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106090086-106107349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106096265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 253
(D253G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002043]
[ENSMUST00000106865]
[ENSMUST00000137915]
|
AlphaFold |
Q9D024 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002043
AA Change: D253G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000002043 Gene: ENSMUSG00000078622 AA Change: D253G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
Pfam:DUF1682
|
134 |
467 |
2.1e-98 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106865
|
SMART Domains |
Protein: ENSMUSP00000102478 Gene: ENSMUSG00000078622
Domain | Start | End | E-Value | Type |
Pfam:DUF1682
|
1 |
158 |
9.4e-41 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122989
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125383
|
SMART Domains |
Protein: ENSMUSP00000122736 Gene: ENSMUSG00000078622
Domain | Start | End | E-Value | Type |
Pfam:DUF1682
|
1 |
212 |
1.3e-53 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137915
|
SMART Domains |
Protein: ENSMUSP00000117127 Gene: ENSMUSG00000078622
Domain | Start | End | E-Value | Type |
Pfam:DUF1682
|
13 |
138 |
3.1e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153982
|
Meta Mutation Damage Score |
0.0842 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
93% (57/61) |
MGI Phenotype |
PHENOTYPE: More than half of homozygous null mice die at early embryonic stages while the rest die shortly after birth. Mouse embryonic fibroblasts display insufficient Ca2+ contents in intracellular stores, impaired store-operated Ca2+ entry, and enhanced endoplasmic reticulum stress-induced apoptosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam33 |
T |
C |
2: 130,895,117 (GRCm39) |
|
probably benign |
Het |
Ahnak |
T |
C |
19: 8,988,268 (GRCm39) |
V3184A |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,084 (GRCm39) |
N320S |
possibly damaging |
Het |
Bin2 |
T |
C |
15: 100,543,244 (GRCm39) |
E313G |
probably damaging |
Het |
Brd10 |
C |
A |
19: 29,782,950 (GRCm39) |
A109S |
probably damaging |
Het |
C9orf72 |
A |
G |
4: 35,193,270 (GRCm39) |
S228P |
possibly damaging |
Het |
Ccdc73 |
A |
G |
2: 104,822,384 (GRCm39) |
T778A |
probably benign |
Het |
Cops3 |
C |
A |
11: 59,710,839 (GRCm39) |
D377Y |
probably damaging |
Het |
Cyp4a14 |
A |
C |
4: 115,350,806 (GRCm39) |
V156G |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Disp1 |
C |
A |
1: 182,871,063 (GRCm39) |
M452I |
probably damaging |
Het |
Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
Fbxo45 |
C |
A |
16: 32,065,524 (GRCm39) |
|
probably benign |
Het |
Flrt2 |
T |
A |
12: 95,745,977 (GRCm39) |
M105K |
possibly damaging |
Het |
Gm26558 |
G |
A |
2: 70,491,656 (GRCm39) |
|
probably benign |
Het |
Gpr83 |
T |
G |
9: 14,772,101 (GRCm39) |
L91R |
probably damaging |
Het |
Greb1l |
TTTAATAACTT |
TTT |
18: 10,555,950 (GRCm39) |
|
probably null |
Het |
Hmces |
T |
A |
6: 87,910,217 (GRCm39) |
|
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Ksr2 |
A |
C |
5: 117,693,074 (GRCm39) |
E174A |
probably damaging |
Het |
Lats1 |
A |
G |
10: 7,588,415 (GRCm39) |
T1011A |
probably benign |
Het |
Lrrc46 |
T |
C |
11: 96,926,957 (GRCm39) |
D120G |
probably damaging |
Het |
Ncstn |
C |
A |
1: 171,895,151 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,059,130 (GRCm39) |
T6118A |
probably benign |
Het |
Nipsnap2 |
A |
C |
5: 129,834,175 (GRCm39) |
M272L |
probably benign |
Het |
Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
Or13c7c |
A |
G |
4: 43,836,301 (GRCm39) |
L63P |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or4f15 |
T |
A |
2: 111,814,366 (GRCm39) |
T18S |
probably benign |
Het |
Or4f61 |
T |
A |
2: 111,922,880 (GRCm39) |
L55F |
possibly damaging |
Het |
Or4g17 |
T |
A |
2: 111,209,598 (GRCm39) |
D84E |
probably damaging |
Het |
Or5b118 |
A |
T |
19: 13,448,794 (GRCm39) |
Q153H |
probably benign |
Het |
Pold1 |
A |
G |
7: 44,185,256 (GRCm39) |
V750A |
possibly damaging |
Het |
Prdm11 |
C |
T |
2: 92,805,817 (GRCm39) |
E378K |
probably damaging |
Het |
Ptpn9 |
A |
G |
9: 56,943,954 (GRCm39) |
D276G |
probably benign |
Het |
Rlf |
A |
T |
4: 121,005,369 (GRCm39) |
F1204I |
probably damaging |
Het |
Robo1 |
C |
A |
16: 72,769,192 (GRCm39) |
T537K |
possibly damaging |
Het |
Sec31b |
T |
A |
19: 44,508,970 (GRCm39) |
M670L |
probably benign |
Het |
Sephs1 |
T |
A |
2: 4,904,321 (GRCm39) |
V233E |
possibly damaging |
Het |
Serpinb2 |
T |
C |
1: 107,450,939 (GRCm39) |
|
probably null |
Het |
Sf3b3 |
T |
C |
8: 111,550,008 (GRCm39) |
Q670R |
possibly damaging |
Het |
Slc8a2 |
A |
C |
7: 15,879,101 (GRCm39) |
D529A |
possibly damaging |
Het |
Sva |
A |
G |
6: 42,019,093 (GRCm39) |
N88D |
probably benign |
Het |
Tcf15 |
G |
T |
2: 151,986,051 (GRCm39) |
R169L |
probably damaging |
Het |
Tfr2 |
A |
G |
5: 137,572,752 (GRCm39) |
T188A |
probably benign |
Het |
Tshz1 |
T |
A |
18: 84,031,340 (GRCm39) |
K1023* |
probably null |
Het |
Ttc28 |
A |
G |
5: 111,373,555 (GRCm39) |
N966S |
probably damaging |
Het |
Unc5c |
T |
A |
3: 141,463,554 (GRCm39) |
I225N |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,184,067 (GRCm39) |
L1457S |
possibly damaging |
Het |
Zbtb34 |
G |
T |
2: 33,301,133 (GRCm39) |
H469Q |
probably damaging |
Het |
Zfp692 |
T |
C |
11: 58,198,413 (GRCm39) |
M1T |
probably null |
Het |
|
Other mutations in Ccdc47 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00952:Ccdc47
|
APN |
11 |
106,094,358 (GRCm39) |
splice site |
probably null |
|
IGL01890:Ccdc47
|
APN |
11 |
106,096,277 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02026:Ccdc47
|
APN |
11 |
106,095,853 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03343:Ccdc47
|
APN |
11 |
106,095,788 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4677001:Ccdc47
|
UTSW |
11 |
106,099,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R1508:Ccdc47
|
UTSW |
11 |
106,093,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R2239:Ccdc47
|
UTSW |
11 |
106,092,960 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3103:Ccdc47
|
UTSW |
11 |
106,093,667 (GRCm39) |
missense |
probably benign |
0.00 |
R3935:Ccdc47
|
UTSW |
11 |
106,092,823 (GRCm39) |
unclassified |
probably benign |
|
R4783:Ccdc47
|
UTSW |
11 |
106,094,430 (GRCm39) |
missense |
probably benign |
0.03 |
R5331:Ccdc47
|
UTSW |
11 |
106,101,176 (GRCm39) |
missense |
probably benign |
0.17 |
R5362:Ccdc47
|
UTSW |
11 |
106,099,039 (GRCm39) |
splice site |
probably null |
|
R5417:Ccdc47
|
UTSW |
11 |
106,101,176 (GRCm39) |
missense |
probably benign |
0.17 |
R5420:Ccdc47
|
UTSW |
11 |
106,101,176 (GRCm39) |
missense |
probably benign |
0.17 |
R5473:Ccdc47
|
UTSW |
11 |
106,095,855 (GRCm39) |
missense |
probably damaging |
0.98 |
R6297:Ccdc47
|
UTSW |
11 |
106,094,427 (GRCm39) |
missense |
probably damaging |
0.99 |
R6449:Ccdc47
|
UTSW |
11 |
106,095,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R6981:Ccdc47
|
UTSW |
11 |
106,093,563 (GRCm39) |
missense |
probably benign |
0.04 |
R7136:Ccdc47
|
UTSW |
11 |
106,095,830 (GRCm39) |
missense |
probably benign |
0.01 |
R7170:Ccdc47
|
UTSW |
11 |
106,093,304 (GRCm39) |
missense |
probably benign |
0.01 |
R7340:Ccdc47
|
UTSW |
11 |
106,091,799 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7799:Ccdc47
|
UTSW |
11 |
106,101,143 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8335:Ccdc47
|
UTSW |
11 |
106,099,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R8335:Ccdc47
|
UTSW |
11 |
106,099,084 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8487:Ccdc47
|
UTSW |
11 |
106,092,971 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8752:Ccdc47
|
UTSW |
11 |
106,095,818 (GRCm39) |
missense |
probably damaging |
0.99 |
R9157:Ccdc47
|
UTSW |
11 |
106,093,208 (GRCm39) |
critical splice donor site |
probably null |
|
R9504:Ccdc47
|
UTSW |
11 |
106,101,155 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGAGACAGAACTGTGCTGTCC -3'
(R):5'- AACTTGCTGGATCGTTTCTCATAC -3'
Sequencing Primer
(F):5'- GACAGAACTGTGCTGTCCTACAG -3'
(R):5'- GATCGTTTCTCATACCCAAGACAGTG -3'
|
Posted On |
2016-06-21 |