Incidental Mutation 'R6297:Ccdc47'
ID |
508850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc47
|
Ensembl Gene |
ENSMUSG00000078622 |
Gene Name |
coiled-coil domain containing 47 |
Synonyms |
asp4, calumin, 2610204L23Rik |
MMRRC Submission |
044464-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6297 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106090086-106107349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106094427 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 324
(Y324C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002043]
[ENSMUST00000106865]
[ENSMUST00000137915]
|
AlphaFold |
Q9D024 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002043
AA Change: Y324C
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000002043 Gene: ENSMUSG00000078622 AA Change: Y324C
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
AA Change: Y8C
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000102478 Gene: ENSMUSG00000078622 AA Change: Y8C
Domain | Start | End | E-Value | Type |
Pfam:DUF1682
|
1 |
158 |
9.4e-41 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122989
|
Predicted Effect |
unknown
Transcript: ENSMUST00000125383
AA Change: Y70C
|
SMART Domains |
Protein: ENSMUSP00000122736 Gene: ENSMUSG00000078622 AA Change: Y70C
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 |
0.2008 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
98% (45/46) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,926,179 (GRCm39) |
V1205A |
probably benign |
Het |
Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
Ate1 |
A |
G |
7: 130,105,570 (GRCm39) |
V316A |
probably damaging |
Het |
Bpifa1 |
A |
G |
2: 153,986,180 (GRCm39) |
I102V |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,557,655 (GRCm39) |
|
probably null |
Het |
Cdh22 |
T |
C |
2: 164,985,564 (GRCm39) |
K341E |
possibly damaging |
Het |
Cenpb |
A |
G |
2: 131,020,289 (GRCm39) |
|
probably benign |
Het |
Dgkd |
A |
G |
1: 87,853,866 (GRCm39) |
I570V |
possibly damaging |
Het |
Dhx32 |
A |
T |
7: 133,344,529 (GRCm39) |
Y27N |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,852,144 (GRCm39) |
D1824G |
possibly damaging |
Het |
Fbxo8 |
T |
A |
8: 57,022,323 (GRCm39) |
C112S |
probably damaging |
Het |
Fndc3a |
T |
C |
14: 72,800,980 (GRCm39) |
D590G |
probably damaging |
Het |
Gm19965 |
T |
A |
1: 116,750,410 (GRCm39) |
I697N |
possibly damaging |
Het |
Greb1l |
G |
A |
18: 10,469,494 (GRCm39) |
D170N |
probably damaging |
Het |
Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
Igfn1 |
A |
T |
1: 135,892,399 (GRCm39) |
|
probably null |
Het |
Ighg2b |
T |
C |
12: 113,270,512 (GRCm39) |
E206G |
unknown |
Het |
Ints15 |
A |
T |
5: 143,293,787 (GRCm39) |
L230Q |
possibly damaging |
Het |
Lman2 |
T |
C |
13: 55,496,244 (GRCm39) |
N267S |
probably damaging |
Het |
Lrfn5 |
A |
T |
12: 61,890,348 (GRCm39) |
I546F |
probably benign |
Het |
Lrrc4c |
T |
C |
2: 97,459,964 (GRCm39) |
S197P |
probably damaging |
Het |
Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
Mdga2 |
A |
G |
12: 66,553,027 (GRCm39) |
Y793H |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,730,054 (GRCm39) |
R2799* |
probably null |
Het |
Mup13 |
T |
A |
4: 61,181,634 (GRCm39) |
I148F |
probably benign |
Het |
Or2aj5 |
A |
C |
16: 19,424,680 (GRCm39) |
V246G |
possibly damaging |
Het |
Or5m10 |
A |
G |
2: 85,717,159 (GRCm39) |
N5S |
probably benign |
Het |
Or8g53 |
A |
T |
9: 39,683,522 (GRCm39) |
D191E |
possibly damaging |
Het |
Pdgfra |
A |
G |
5: 75,334,135 (GRCm39) |
K403E |
possibly damaging |
Het |
Pigz |
A |
T |
16: 31,763,755 (GRCm39) |
Y271F |
probably damaging |
Het |
Plekhg4 |
T |
C |
8: 106,104,472 (GRCm39) |
L517P |
probably damaging |
Het |
Rnf20 |
T |
C |
4: 49,642,132 (GRCm39) |
L232P |
probably damaging |
Het |
Rpa3 |
C |
A |
6: 8,256,767 (GRCm39) |
G71* |
probably null |
Het |
Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Rubcnl |
A |
G |
14: 75,287,584 (GRCm39) |
T623A |
probably benign |
Het |
Sltm |
A |
G |
9: 70,488,641 (GRCm39) |
D597G |
probably damaging |
Het |
Stpg2 |
T |
C |
3: 139,407,432 (GRCm39) |
V528A |
possibly damaging |
Het |
Supt6 |
C |
T |
11: 78,116,885 (GRCm39) |
R589Q |
possibly damaging |
Het |
Tas1r2 |
T |
A |
4: 139,389,361 (GRCm39) |
M419K |
possibly damaging |
Het |
Txndc16 |
T |
C |
14: 45,389,243 (GRCm39) |
T486A |
probably benign |
Het |
Vamp9 |
A |
G |
5: 100,089,092 (GRCm39) |
Y119C |
probably damaging |
Het |
Vmn1r185 |
A |
G |
7: 26,311,046 (GRCm39) |
V153A |
probably benign |
Het |
Vmn2r48 |
T |
C |
7: 9,668,807 (GRCm39) |
N548D |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,215,895 (GRCm39) |
I378T |
possibly damaging |
Het |
Wdr37 |
A |
G |
13: 8,892,764 (GRCm39) |
|
probably null |
Het |
Xrn2 |
G |
A |
2: 146,868,490 (GRCm39) |
R181H |
probably damaging |
Het |
Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
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 |
R5150:Ccdc47
|
UTSW |
11 |
106,096,265 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
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'- GAGGCCATACTTCTAAACACTTTTGC -3'
(R):5'- TCCTGTCATGGGAGGGACTAAG -3'
Sequencing Primer
(F):5'- TCCGAGAAGGGTGTCAAATCTCC -3'
(R):5'- AAGCTTGGGAGTGCACTA -3'
|
Posted On |
2018-04-02 |