Incidental Mutation 'R1508:Ccdc47'
| ID |
168083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc47
|
| Ensembl Gene |
ENSMUSG00000078622 |
| Gene Name |
coiled-coil domain containing 47 |
| Synonyms |
asp4, calumin, 2610204L23Rik |
| MMRRC Submission |
040869-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1508 (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 106093242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 70
(D70N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002043]
[ENSMUST00000106865]
[ENSMUST00000137915]
|
| AlphaFold |
Q9D024 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002043
AA Change: D391N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622
AA Change: D391N
| 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 |
possibly damaging
Transcript: ENSMUST00000106865
AA Change: D75N
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102478
Gene: ENSMUSG00000078622
AA Change: D75N
| 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: D137N
|
| SMART Domains |
Protein: ENSMUSP00000122736
Gene: ENSMUSG00000078622
AA Change: D137N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1682
|
1 |
212 |
1.3e-53 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137915
AA Change: D70N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117127
Gene: ENSMUSG00000078622
AA Change: D70N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1682
|
13 |
138 |
3.1e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153982
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl4 |
T |
C |
4: 111,513,595 (GRCm39) |
I447T |
probably benign |
Het |
| Albfm1 |
A |
G |
5: 90,729,780 (GRCm39) |
E401G |
probably benign |
Het |
| Alpk2 |
C |
A |
18: 65,482,376 (GRCm39) |
G544V |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,061,481 (GRCm39) |
I3321T |
possibly damaging |
Het |
| Ceacam13 |
T |
A |
7: 17,744,996 (GRCm39) |
V22D |
possibly damaging |
Het |
| Cep76 |
A |
G |
18: 67,756,358 (GRCm39) |
M491T |
probably damaging |
Het |
| Clec4a3 |
A |
T |
6: 122,944,467 (GRCm39) |
N171I |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 180,634,370 (GRCm39) |
I112V |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,433,557 (GRCm39) |
L1462H |
unknown |
Het |
| Cubn |
A |
G |
2: 13,431,916 (GRCm39) |
F1226L |
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,422,250 (GRCm39) |
I77K |
possibly damaging |
Het |
| Dcaf1 |
A |
T |
9: 106,731,376 (GRCm39) |
T618S |
probably damaging |
Het |
| Echdc3 |
A |
T |
2: 6,211,231 (GRCm39) |
S129T |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,601,503 (GRCm39) |
V272A |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,479,899 (GRCm39) |
F2982L |
probably benign |
Het |
| Gm9476 |
A |
T |
10: 100,142,700 (GRCm39) |
|
noncoding transcript |
Het |
| Golga1 |
A |
G |
2: 38,913,261 (GRCm39) |
M542T |
probably benign |
Het |
| H2-D1 |
T |
A |
17: 35,482,844 (GRCm39) |
C125S |
probably damaging |
Het |
| Jazf1 |
G |
A |
6: 52,789,166 (GRCm39) |
H103Y |
probably damaging |
Het |
| Klhl12 |
T |
C |
1: 134,416,712 (GRCm39) |
V478A |
possibly damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,330 (GRCm39) |
T220S |
probably damaging |
Het |
| Myocd |
C |
T |
11: 65,075,342 (GRCm39) |
C594Y |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,331,735 (GRCm39) |
E700G |
probably damaging |
Het |
| Or52z15 |
T |
C |
7: 103,332,678 (GRCm39) |
V251A |
possibly damaging |
Het |
| Or6k2 |
T |
A |
1: 173,986,930 (GRCm39) |
M197K |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,829,690 (GRCm39) |
Q937R |
probably damaging |
Het |
| Pex14 |
T |
C |
4: 149,052,029 (GRCm39) |
R147G |
probably damaging |
Het |
| Plppr3 |
A |
T |
10: 79,703,374 (GRCm39) |
Y37N |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,955,654 (GRCm39) |
T522A |
probably benign |
Het |
| Ppp3cb |
T |
C |
14: 20,574,492 (GRCm39) |
N201S |
probably damaging |
Het |
| Prf1 |
A |
G |
10: 61,139,329 (GRCm39) |
D429G |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,148,342 (GRCm39) |
S701P |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,268,341 (GRCm39) |
T1309I |
possibly damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,487,667 (GRCm39) |
M1647K |
probably damaging |
Het |
| Skint11 |
T |
C |
4: 114,088,963 (GRCm39) |
|
probably null |
Het |
| Slc8a2 |
T |
C |
7: 15,874,522 (GRCm39) |
Y257H |
probably benign |
Het |
| Slfn1 |
T |
A |
11: 83,012,181 (GRCm39) |
I99N |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,349,591 (GRCm39) |
T282A |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,461,448 (GRCm39) |
D228V |
probably damaging |
Het |
| Specc1l |
A |
G |
10: 75,143,072 (GRCm39) |
N1031S |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,107,029 (GRCm39) |
|
probably null |
Het |
| Tdrd1 |
G |
A |
19: 56,839,790 (GRCm39) |
E617K |
probably damaging |
Het |
| Tex15 |
C |
G |
8: 34,066,880 (GRCm39) |
F2103L |
probably damaging |
Het |
| Trim21 |
T |
A |
7: 102,208,783 (GRCm39) |
Q312L |
possibly damaging |
Het |
| Trim56 |
C |
T |
5: 137,142,791 (GRCm39) |
A242T |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,249,873 (GRCm39) |
V467A |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,886 (GRCm39) |
I677L |
probably benign |
Het |
| Vstm4 |
T |
C |
14: 32,585,511 (GRCm39) |
V26A |
probably damaging |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
| Zfat |
T |
A |
15: 68,050,600 (GRCm39) |
K807I |
probably 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 |
|
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 |
|
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'- CCAACTTAGCATGGCTCAACTCCTC -3'
(R):5'- CATAGATGGACGGGTCCTTGCTTAC -3'
Sequencing Primer
(F):5'- CCCCTTTGACACTTTCAAGTCAAC -3'
(R):5'- CCAAGAGGACGCTACTGTTTAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation