Incidental Mutation 'IGL00952:Ccdc47'
ID 28582
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL00952
Quality Score
Status
Chromosome 11
Chromosomal Location 106090086-106107349 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to T at 106094358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000002043] [ENSMUST00000106865] [ENSMUST00000137915]
AlphaFold Q9D024
Predicted Effect probably null
Transcript: ENSMUST00000002043
SMART Domains Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000106865
SMART Domains Protein: ENSMUSP00000102478
Gene: ENSMUSG00000078622

DomainStartEndE-ValueType
Pfam:DUF1682 1 158 9.4e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122989
Predicted Effect probably null
Transcript: ENSMUST00000125383
SMART Domains Protein: ENSMUSP00000122736
Gene: ENSMUSG00000078622

DomainStartEndE-ValueType
Pfam:DUF1682 1 212 1.3e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137915
SMART Domains Protein: ENSMUSP00000117127
Gene: ENSMUSG00000078622

DomainStartEndE-ValueType
Pfam:DUF1682 13 138 3.1e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153982
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T G 6: 40,941,733 (GRCm39) I4S probably benign Het
Abca8b A G 11: 109,859,886 (GRCm39) probably null Het
Aftph A T 11: 20,677,483 (GRCm39) V42E probably damaging Het
AI467606 A G 7: 126,691,874 (GRCm39) S150G probably damaging Het
Art4 T C 6: 136,831,818 (GRCm39) N108D possibly damaging Het
B9d1 G A 11: 61,403,504 (GRCm39) V167I possibly damaging Het
Ccdc96 T A 5: 36,642,424 (GRCm39) probably benign Het
Cfap44 A G 16: 44,241,638 (GRCm39) I670V probably benign Het
Col18a1 T G 10: 76,905,813 (GRCm39) K909Q possibly damaging Het
Col8a2 A G 4: 126,203,584 (GRCm39) Y59C probably damaging Het
Coro6 A T 11: 77,359,291 (GRCm39) D288V probably damaging Het
Cul4a C T 8: 13,196,562 (GRCm39) L739F probably damaging Het
Dmxl2 C T 9: 54,324,166 (GRCm39) V1073I probably damaging Het
Dnah11 T C 12: 118,160,386 (GRCm39) T115A possibly damaging Het
Fdx2 A G 9: 20,984,558 (GRCm39) probably null Het
Flnc C T 6: 29,459,546 (GRCm39) Q2549* probably null Het
Foxn2 T C 17: 88,783,308 (GRCm39) C188R probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ilf3 T C 9: 21,307,347 (GRCm39) L343P probably damaging Het
Itgb2l C T 16: 96,227,950 (GRCm39) G518S probably damaging Het
Itpr2 T A 6: 146,060,459 (GRCm39) I2486F probably damaging Het
Kat2a A G 11: 100,596,977 (GRCm39) V681A probably damaging Het
Kif17 A G 4: 137,990,019 (GRCm39) N69S possibly damaging Het
Kif26b G A 1: 178,759,770 (GRCm39) D2106N probably damaging Het
Klf6 A G 13: 5,911,680 (GRCm39) T15A probably benign Het
Lyst A G 13: 13,852,692 (GRCm39) T2231A probably benign Het
Mark4 T C 7: 19,165,749 (GRCm39) T515A possibly damaging Het
Mast3 A T 8: 71,233,327 (GRCm39) probably benign Het
Nalcn T C 14: 123,586,201 (GRCm39) K722R probably benign Het
Ncf2 G A 1: 152,711,857 (GRCm39) E524K probably benign Het
Or56a3b A G 7: 104,771,614 (GRCm39) probably null Het
Or5p81 A G 7: 108,267,445 (GRCm39) N274S possibly damaging Het
Or5w12 A T 2: 87,502,159 (GRCm39) I184N probably damaging Het
Or8c17 A T 9: 38,179,801 (GRCm39) probably benign Het
Plcg2 A T 8: 118,333,956 (GRCm39) M910L probably benign Het
Pramel14 T C 4: 143,719,894 (GRCm39) H157R probably benign Het
Rai1 A T 11: 60,078,818 (GRCm39) K961* probably null Het
Rsph14 T C 10: 74,865,601 (GRCm39) D112G probably benign Het
Sgo1 T A 17: 53,994,275 (GRCm39) D59V probably damaging Het
Slc22a29 A T 19: 8,195,221 (GRCm39) V138E probably damaging Het
Slc9a1 T A 4: 133,143,693 (GRCm39) V393D probably damaging Het
Smg6 A G 11: 74,819,974 (GRCm39) R82G probably benign Het
Sppl3 T C 5: 115,212,935 (GRCm39) S55P probably benign Het
Srsf12 A C 4: 33,226,103 (GRCm39) Q122P possibly damaging Het
Tas1r2 T C 4: 139,382,563 (GRCm39) M67T probably benign Het
Thnsl1 G A 2: 21,216,767 (GRCm39) V174I possibly damaging Het
Thumpd1 A G 7: 119,316,232 (GRCm39) V239A possibly damaging Het
Tnxb T G 17: 34,932,102 (GRCm39) Y2212D probably damaging Het
Trim40 T C 17: 37,193,289 (GRCm39) *213W probably null Het
Ttc16 T C 2: 32,660,259 (GRCm39) D183G probably damaging Het
Other mutations in Ccdc47
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-04-17