Incidental Mutation 'R5362:Ccdc47'
ID 422891
Institutional Source Beutler Lab
Gene Symbol Ccdc47
Ensembl Gene ENSMUSG00000078622
Gene Name coiled-coil domain containing 47
Synonyms asp4, calumin, 2610204L23Rik
MMRRC Submission 043264-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5362 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 106090086-106107349 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 106099039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000002043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002043] [ENSMUST00000106865]
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 benign
Transcript: ENSMUST00000106865
SMART Domains Protein: ENSMUSP00000102478
Gene: ENSMUSG00000078622

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

DomainStartEndE-ValueType
Pfam:DUF1682 1 212 1.3e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153982
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik A T 6: 133,271,445 (GRCm39) D163V probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ankrd17 G A 5: 90,413,404 (GRCm39) A1170V probably damaging Het
Ano1 A C 7: 144,202,337 (GRCm39) probably benign Het
Atl2 T C 17: 80,168,890 (GRCm39) N37D probably damaging Het
C2cd5 T C 6: 143,028,969 (GRCm39) Y90C probably damaging Het
Carm1 A G 9: 21,498,655 (GRCm39) N499S probably benign Het
Cd300lf G T 11: 115,007,940 (GRCm39) L251M probably damaging Het
Cfap74 A G 4: 155,522,623 (GRCm39) S670G probably damaging Het
Clec4a1 A G 6: 122,909,196 (GRCm39) D188G probably damaging Het
Col4a1 T C 8: 11,295,760 (GRCm39) probably benign Het
Csn2 T A 5: 87,842,508 (GRCm39) H165L probably benign Het
Cstdc1 G T 2: 148,625,298 (GRCm39) L77F probably damaging Het
Dlx3 T C 11: 95,011,326 (GRCm39) V60A possibly damaging Het
Elp1 A C 4: 56,778,969 (GRCm39) I616S probably damaging Het
Fam221a A G 6: 49,353,049 (GRCm39) H21R probably damaging Het
Foxj3 T A 4: 119,477,340 (GRCm39) H349Q unknown Het
Gm37240 G A 3: 84,423,000 (GRCm39) T123I probably damaging Het
Gpc1 A T 1: 92,782,615 (GRCm39) T121S probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Itga2b A G 11: 102,351,961 (GRCm39) V512A probably damaging Het
Itgae A G 11: 73,002,675 (GRCm39) Y144C probably damaging Het
Izumo3 A T 4: 92,035,037 (GRCm39) I60K possibly damaging Het
Kif9 G A 9: 110,319,012 (GRCm39) V159M probably damaging Het
Lrp1b T C 2: 41,265,914 (GRCm39) D229G probably damaging Het
Nkpd1 G A 7: 19,257,193 (GRCm39) G324D probably damaging Het
Nrp2 T A 1: 62,808,221 (GRCm39) Y617N probably benign Het
Ocm T C 5: 143,960,674 (GRCm39) D91G probably damaging Het
Or4l15 A G 14: 50,197,986 (GRCm39) L181P possibly damaging Het
Or52ad1 A G 7: 102,995,454 (GRCm39) V227A probably damaging Het
Or52n2b A G 7: 104,565,834 (GRCm39) I223T probably damaging Het
Or6c70 T C 10: 129,710,422 (GRCm39) E68G probably damaging Het
Pex5l G A 3: 33,047,065 (GRCm39) A295V probably damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Pou2f2 G A 7: 24,792,320 (GRCm39) P512S probably benign Het
Prpf8 G A 11: 75,397,236 (GRCm39) R2023Q possibly damaging Het
Ptprd A T 4: 76,047,050 (GRCm39) S399R probably damaging Het
Qrich2 T C 11: 116,337,976 (GRCm39) Y1889C probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Ranbp6 G T 19: 29,789,128 (GRCm39) T408K probably benign Het
Scn7a G A 2: 66,530,342 (GRCm39) R668C probably damaging Het
Sertad4 T C 1: 192,529,414 (GRCm39) N134S probably damaging Het
Spg11 G T 2: 121,891,481 (GRCm39) N1963K probably damaging Het
Svil C T 18: 5,057,345 (GRCm39) P598S probably damaging Het
Top2a T C 11: 98,909,738 (GRCm39) N120S probably damaging Het
Trappc9 C T 15: 72,930,066 (GRCm39) E97K possibly damaging Het
Vmn1r91 A T 7: 19,835,386 (GRCm39) T102S probably benign Het
Vmn2r99 G T 17: 19,599,601 (GRCm39) M428I probably benign Het
Zfp62 A T 11: 49,107,439 (GRCm39) H510L probably damaging Het
Other mutations in Ccdc47
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CACTTGATCACTCACTGGCC -3'
(R):5'- TGTCCAAGGAGATTCTGTGAG -3'

Sequencing Primer
(F):5'- TCATCCGGGCCAGGACATTAAG -3'
(R):5'- TGTCCAAGGAGATTCTGTGAGATAGC -3'
Posted On 2016-08-04