Incidental Mutation 'R3103:Ccdc47'
ID477726
Institutional Source Beutler Lab
Gene Symbol Ccdc47
Ensembl Gene ENSMUSG00000078622
Gene Namecoiled-coil domain containing 47
Synonymscalumin, asp4, 2610204L23Rik
MMRRC Submission 040577-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R3103 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location106197408-106216344 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106202841 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 6 (H6R)
Ref Sequence ENSEMBL: ENSMUSP00000117127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002043] [ENSMUST00000106865] [ENSMUST00000137915]
Predicted Effect probably benign
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 benign
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 benign
Transcript: ENSMUST00000125383
SMART Domains Protein: ENSMUSP00000122736
Gene: ENSMUSG00000078622

DomainStartEndE-ValueType
Pfam:DUF1682 1 212 1.3e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137915
AA Change: H6R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117127
Gene: ENSMUSG00000078622
AA Change: H6R

DomainStartEndE-ValueType
Pfam:DUF1682 13 138 3.1e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153982
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 A G 7: 28,610,984 probably null Het
Adap2 G T 11: 80,157,033 C105F probably damaging Het
Bace2 T C 16: 97,422,001 probably null Het
Bpifc A G 10: 85,993,422 S94P probably damaging Het
C2cd3 A G 7: 100,395,252 D347G possibly damaging Het
Cad T C 5: 31,061,674 V613A possibly damaging Het
Celsr3 A G 9: 108,837,139 T1956A probably benign Het
Cep128 T A 12: 91,019,344 D1006V probably damaging Het
Cog3 T C 14: 75,747,201 probably null Het
Csmd1 C T 8: 15,917,405 V3153M probably damaging Het
Ctnna2 T C 6: 77,653,144 E122G possibly damaging Het
Cts8 T A 13: 61,250,958 I245F probably damaging Het
Ddx27 T A 2: 167,026,246 V333E probably damaging Het
Dmpk A G 7: 19,087,654 Y279C probably damaging Het
Dpagt1 A G 9: 44,327,995 I111V probably benign Het
Dvl2 C A 11: 70,008,869 P546T possibly damaging Het
Fat4 G T 3: 38,891,940 A1661S probably benign Het
Gcm1 A G 9: 78,064,452 N225S probably damaging Het
Gcnt2 A T 13: 40,918,606 M242L probably benign Het
Golgb1 A G 16: 36,894,849 R226G probably damaging Het
Gpr63 G A 4: 25,007,353 V26I probably benign Het
Grik2 A G 10: 49,240,772 L631P probably damaging Het
Hapln3 T C 7: 79,121,736 D135G probably benign Het
Il31ra C A 13: 112,530,351 V398F probably damaging Het
Ipp G T 4: 116,524,249 R315L possibly damaging Het
Kcmf1 A G 6: 72,861,847 L32P probably damaging Het
Klf17 T A 4: 117,760,608 Q184L possibly damaging Het
Lrp2 C T 2: 69,431,984 V4442I probably benign Het
Lrrfip2 A T 9: 111,222,210 E293D probably damaging Het
Oit3 A G 10: 59,438,891 I29T probably damaging Het
Olfr403 G A 11: 74,196,075 D191N probably benign Het
Olfr50 T C 2: 36,793,562 C109R possibly damaging Het
Olfr555 T C 7: 102,659,481 V220A probably benign Het
Plb1 T A 5: 32,328,029 M842K possibly damaging Het
Ppt1 T C 4: 122,836,307 C18R probably benign Het
Pstpip2 T C 18: 77,871,777 Y191H probably damaging Het
Ryr1 C T 7: 29,074,948 V2361I probably damaging Het
Serpinb11 A G 1: 107,377,608 N238S probably benign Het
Skor2 A T 18: 76,859,278 K232* probably null Het
Slc13a5 A T 11: 72,257,388 W231R probably damaging Het
Svs5 A T 2: 164,333,393 E55V probably benign Het
Tfcp2 A T 15: 100,525,600 W142R probably damaging Het
Trpc2 A T 7: 102,095,234 I738F possibly damaging Het
Vmn2r61 T A 7: 42,266,643 S227T possibly damaging Het
Zfhx4 A G 3: 5,399,326 T1540A probably damaging Het
Zfp616 A G 11: 74,071,735 T74A probably benign Het
Other mutations in Ccdc47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Ccdc47 APN 11 106203532 splice site probably null
IGL01890:Ccdc47 APN 11 106205451 missense probably damaging 1.00
IGL02026:Ccdc47 APN 11 106205027 missense probably damaging 0.96
IGL03343:Ccdc47 APN 11 106204962 missense probably damaging 0.99
PIT4677001:Ccdc47 UTSW 11 106208208 missense probably damaging 1.00
R1508:Ccdc47 UTSW 11 106202416 missense probably damaging 1.00
R2239:Ccdc47 UTSW 11 106202134 missense possibly damaging 0.93
R3935:Ccdc47 UTSW 11 106201997 unclassified probably benign
R4783:Ccdc47 UTSW 11 106203604 missense probably benign 0.03
R5150:Ccdc47 UTSW 11 106205439 missense possibly damaging 0.92
R5331:Ccdc47 UTSW 11 106210350 missense probably benign 0.17
R5362:Ccdc47 UTSW 11 106208213 splice site probably null
R5417:Ccdc47 UTSW 11 106210350 missense probably benign 0.17
R5420:Ccdc47 UTSW 11 106210350 missense probably benign 0.17
R5473:Ccdc47 UTSW 11 106205029 missense probably damaging 0.98
R6297:Ccdc47 UTSW 11 106203601 missense probably damaging 0.99
R6449:Ccdc47 UTSW 11 106204985 missense probably damaging 1.00
R6981:Ccdc47 UTSW 11 106202737 missense probably benign 0.04
R7136:Ccdc47 UTSW 11 106205004 missense probably benign 0.01
R7170:Ccdc47 UTSW 11 106202478 missense probably benign 0.01
R7340:Ccdc47 UTSW 11 106200973 missense possibly damaging 0.68
R7799:Ccdc47 UTSW 11 106210317 missense possibly damaging 0.84
R8335:Ccdc47 UTSW 11 106208258 missense possibly damaging 0.85
R8335:Ccdc47 UTSW 11 106208259 missense probably damaging 1.00
Predicted Primers
Posted On2017-05-15