Incidental Mutation 'IGL01890:Ccdc47'
ID 179227
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 # IGL01890
Quality Score
Status
Chromosome 11
Chromosomal Location 106090086-106107349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106096277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 249 (V249A)
Ref Sequence ENSEMBL: ENSMUSP00000002043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002043] [ENSMUST00000106865] [ENSMUST00000137915]
AlphaFold Q9D024
Predicted Effect probably damaging
Transcript: ENSMUST00000002043
AA Change: V249A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622
AA Change: V249A

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
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A T 12: 80,231,642 (GRCm39) V265E probably damaging Het
Anks1b A G 10: 90,480,389 (GRCm39) I865V probably benign Het
Car5a G A 8: 122,650,349 (GRCm39) A182V probably benign Het
Cyb561d2 A G 9: 107,418,722 (GRCm39) V34A probably damaging Het
Dmbt1 A G 7: 130,676,149 (GRCm39) probably benign Het
Entpd6 G A 2: 150,612,612 (GRCm39) D445N possibly damaging Het
Fastkd2 A G 1: 63,771,320 (GRCm39) I225M probably benign Het
Flcn A G 11: 59,685,996 (GRCm39) V424A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gpn3 A G 5: 122,519,328 (GRCm39) M176V probably benign Het
Igkv12-38 C T 6: 69,920,389 (GRCm39) C43Y probably damaging Het
Oas1h A G 5: 121,000,852 (GRCm39) probably null Het
Rexo1 A T 10: 80,378,845 (GRCm39) Y1064N possibly damaging Het
Skint1 G A 4: 111,867,878 (GRCm39) G2R probably damaging Het
Slc4a9 G A 18: 36,662,760 (GRCm39) A172T possibly damaging Het
Synpo2 A G 3: 122,906,146 (GRCm39) S727P probably damaging Het
Tmem131 A T 1: 36,862,237 (GRCm39) probably benign Het
Trpm3 G T 19: 22,689,083 (GRCm39) R4L probably damaging Het
Upf1 A T 8: 70,786,880 (GRCm39) V879E possibly damaging Het
Vmn1r194 A T 13: 22,428,776 (GRCm39) Y131F probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r95 T A 17: 18,671,737 (GRCm39) N491K probably damaging Het
Other mutations in Ccdc47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Ccdc47 APN 11 106,094,358 (GRCm39) splice site probably null
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 2014-05-07