Incidental Mutation 'R5417:Ccdc47'
| ID |
427796 |
| 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 # |
R5417 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106090086-106107349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106101176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 162
(R162Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002043]
|
| AlphaFold |
Q9D024 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002043
AA Change: R162Q
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622
AA Change: R162Q
| 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: ENSMUST00000125383
|
| SMART Domains |
Protein: ENSMUSP00000122736
Gene: ENSMUSG00000078622
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1682
|
1 |
212 |
1.3e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153982
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
A |
G |
15: 76,619,301 (GRCm39) |
V761A |
possibly damaging |
Het |
| Cfap65 |
T |
C |
1: 74,964,259 (GRCm39) |
E563G |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Col17a1 |
C |
A |
19: 47,650,829 (GRCm39) |
G732C |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,233,579 (GRCm39) |
I812V |
probably null |
Het |
| Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,373,755 (GRCm39) |
|
probably null |
Het |
| Dgkg |
A |
T |
16: 22,407,081 (GRCm39) |
M168K |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dolpp1 |
T |
C |
2: 30,286,249 (GRCm39) |
L18P |
probably damaging |
Het |
| Eif3e |
A |
T |
15: 43,128,917 (GRCm39) |
D234E |
probably benign |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,767,990 (GRCm39) |
R942Q |
possibly damaging |
Het |
| Flvcr2 |
T |
G |
12: 85,793,965 (GRCm39) |
F114V |
probably damaging |
Het |
| Gm14443 |
A |
T |
2: 175,011,796 (GRCm39) |
C217S |
probably damaging |
Het |
| Gphb5 |
A |
T |
12: 75,459,746 (GRCm39) |
V83E |
possibly damaging |
Het |
| Gpsm1 |
T |
C |
2: 26,214,045 (GRCm39) |
|
probably null |
Het |
| Grik4 |
A |
G |
9: 42,582,544 (GRCm39) |
F134S |
probably benign |
Het |
| Ibsp |
G |
A |
5: 104,458,335 (GRCm39) |
E291K |
possibly damaging |
Het |
| Igfals |
T |
G |
17: 25,099,290 (GRCm39) |
L127R |
probably damaging |
Het |
| Igsf9b |
CGGCCCCGGCCCAG |
CGGCCCCGGCCCAGGCCCCGGCCCAG |
9: 27,245,572 (GRCm39) |
|
probably benign |
Het |
| Iqcf3 |
T |
A |
9: 106,431,413 (GRCm39) |
D63V |
probably damaging |
Het |
| Klc4 |
A |
G |
17: 46,942,957 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mapk8ip2 |
C |
A |
15: 89,341,642 (GRCm39) |
D284E |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,781 (GRCm39) |
T1576S |
unknown |
Het |
| Nlrp3 |
G |
A |
11: 59,439,889 (GRCm39) |
G489S |
probably damaging |
Het |
| Nr5a1 |
T |
A |
2: 38,598,098 (GRCm39) |
Q233L |
possibly damaging |
Het |
| Nusap1 |
G |
A |
2: 119,477,624 (GRCm39) |
V345I |
probably damaging |
Het |
| Or10q1 |
A |
G |
19: 13,727,217 (GRCm39) |
H249R |
probably benign |
Het |
| Or4k51 |
A |
G |
2: 111,585,265 (GRCm39) |
T224A |
possibly damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,187,970 (GRCm39) |
V157E |
possibly damaging |
Het |
| Oxr1 |
A |
G |
15: 41,683,767 (GRCm39) |
T378A |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,569,087 (GRCm39) |
F78L |
probably benign |
Het |
| Pgm2l1 |
A |
T |
7: 99,921,583 (GRCm39) |
I605L |
probably benign |
Het |
| Pik3c2g |
A |
G |
6: 139,682,669 (GRCm39) |
I17V |
probably benign |
Het |
| Prss39 |
A |
G |
1: 34,539,209 (GRCm39) |
S150G |
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scg3 |
T |
A |
9: 75,576,538 (GRCm39) |
Y279F |
probably benign |
Het |
| Skic2 |
C |
T |
17: 35,065,574 (GRCm39) |
V327I |
probably damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,621,697 (GRCm39) |
C253R |
probably benign |
Het |
| Tcirg1 |
C |
T |
19: 3,953,509 (GRCm39) |
|
probably null |
Het |
| Trim37 |
A |
G |
11: 87,057,505 (GRCm39) |
Y313C |
probably damaging |
Het |
| Ttll9 |
A |
T |
2: 152,844,912 (GRCm39) |
M427L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,475,409 (GRCm39) |
R932G |
possibly damaging |
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 |
|
|
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'- ACAAATGCACTGTAGCCAGC -3'
(R):5'- AAAGTATCGACTTCTGTCTATGGGC -3'
Sequencing Primer
(F):5'- ACTGTAGCCAGCATGCCATG -3'
(R):5'- ATCGACTTCTGTCTATGGGCTTTCTC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation