Incidental Mutation 'IGL01432:Calu'
ID 84194
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calu
Ensembl Gene ENSMUSG00000029767
Gene Name calumenin
Synonyms 9530075H20Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.588) question?
Stock # IGL01432
Quality Score
Status
Chromosome 6
Chromosomal Location 29348105-29376674 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29356552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 26 (D26G)
Ref Sequence ENSEMBL: ENSMUSP00000133436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031779] [ENSMUST00000090481] [ENSMUST00000172974] [ENSMUST00000173216] [ENSMUST00000173694] [ENSMUST00000174096]
AlphaFold O35887
Predicted Effect probably benign
Transcript: ENSMUST00000031779
AA Change: D26G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031779
Gene: ENSMUSG00000029767
AA Change: D26G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EFh 72 100 1.1e1 SMART
Blast:EFh 108 136 3e-11 BLAST
EFh 155 183 9.61e1 SMART
EFh 192 220 2.03e-2 SMART
Blast:EFh 233 261 2e-10 BLAST
EFh 269 297 5.75e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090481
AA Change: D26G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000087967
Gene: ENSMUSG00000029767
AA Change: D26G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EFh 72 100 1.82e0 SMART
EFh 108 136 2.44e1 SMART
EFh 155 183 9.61e1 SMART
EFh 192 220 2.03e-2 SMART
Blast:EFh 233 261 2e-10 BLAST
EFh 269 297 5.75e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156163
SMART Domains Protein: ENSMUSP00000133615
Gene: ENSMUSG00000029767

DomainStartEndE-ValueType
EFh 26 54 9.61e1 SMART
EFh 63 91 2.03e-2 SMART
Blast:EFh 104 132 3e-11 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000172974
AA Change: D26G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133390
Gene: ENSMUSG00000029767
AA Change: D26G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EFh 72 100 1.1e1 SMART
Blast:EFh 108 136 1e-11 BLAST
EFh 155 183 9.61e1 SMART
EFh 192 220 1.41e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173216
SMART Domains Protein: ENSMUSP00000134708
Gene: ENSMUSG00000029767

DomainStartEndE-ValueType
EFh 3 31 9.61e1 SMART
EFh 40 68 2.03e-2 SMART
Blast:EFh 81 109 2e-11 BLAST
EFh 117 145 5.75e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173694
AA Change: D26G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133436
Gene: ENSMUSG00000029767
AA Change: D26G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EFh 72 100 5.38e0 SMART
EFh 108 136 5.75e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174096
AA Change: D28G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000133945
Gene: ENSMUSG00000029767
AA Change: D28G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:EF-hand_7 43 97 5.3e-8 PFAM
Pfam:EF-hand_6 72 101 6.5e-5 PFAM
Pfam:EF-hand_7 72 133 5e-12 PFAM
Pfam:EF-hand_5 73 98 4.5e-5 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh9a1 T C 1: 167,183,354 (GRCm39) S191P probably damaging Het
Aldoart2 A T 12: 55,612,566 (GRCm39) I164F probably damaging Het
Anapc1 C A 2: 128,475,328 (GRCm39) A1384S probably damaging Het
Arid5a T G 1: 36,358,514 (GRCm39) S429A possibly damaging Het
Asxl1 A G 2: 153,242,125 (GRCm39) K892E probably benign Het
Bltp1 T A 3: 37,057,908 (GRCm39) V3166E possibly damaging Het
Bpnt1 G A 1: 185,086,218 (GRCm39) W261* probably null Het
Ccdc113 C T 8: 96,264,885 (GRCm39) probably benign Het
Cd109 T C 9: 78,605,405 (GRCm39) Y1003H probably benign Het
Cdh9 A G 15: 16,831,033 (GRCm39) K290R probably damaging Het
Cep131 G A 11: 119,967,835 (GRCm39) A140V possibly damaging Het
Cfap251 A G 5: 123,418,015 (GRCm39) I81M possibly damaging Het
Chn1 A T 2: 73,462,096 (GRCm39) C236S probably damaging Het
Cntn4 T A 6: 106,655,295 (GRCm39) probably benign Het
Crispld1 A T 1: 17,817,025 (GRCm39) Q194L probably benign Het
Csmd3 A G 15: 47,596,895 (GRCm39) V1981A probably damaging Het
Cttn A G 7: 144,015,043 (GRCm39) I55T probably damaging Het
Ddx46 G T 13: 55,785,835 (GRCm39) probably benign Het
Diaph1 A T 18: 38,030,557 (GRCm39) I299N unknown Het
Dll1 A G 17: 15,588,768 (GRCm39) Y636H probably damaging Het
Eng A T 2: 32,559,544 (GRCm39) Q111L possibly damaging Het
Exoc6 T C 19: 37,578,324 (GRCm39) V389A possibly damaging Het
Fbxw26 T A 9: 109,547,043 (GRCm39) T461S probably benign Het
Gbf1 T C 19: 46,268,434 (GRCm39) Y1269H probably damaging Het
Gm5852 A G 3: 93,635,086 (GRCm39) Y90H possibly damaging Het
Gnrhr C T 5: 86,330,052 (GRCm39) G323R probably damaging Het
Gpr155 T A 2: 73,182,229 (GRCm39) E661D possibly damaging Het
Grik4 A T 9: 42,432,472 (GRCm39) C842S probably damaging Het
Iws1 A G 18: 32,216,519 (GRCm39) probably benign Het
Kif5c A G 2: 49,591,089 (GRCm39) T314A probably damaging Het
Klhdc1 A C 12: 69,298,751 (GRCm39) K112T probably damaging Het
Kmt2a T C 9: 44,720,393 (GRCm39) T3865A unknown Het
Lgr5 T C 10: 115,288,997 (GRCm39) K477R probably damaging Het
Ly75 A T 2: 60,206,351 (GRCm39) L106Q probably damaging Het
Mcph1 T A 8: 18,675,655 (GRCm39) M26K probably damaging Het
Mettl2 T C 11: 105,017,348 (GRCm39) V9A probably benign Het
Mgat5b A G 11: 116,864,202 (GRCm39) D456G probably benign Het
Mstn A G 1: 53,105,689 (GRCm39) T344A possibly damaging Het
Npr1 T A 3: 90,370,543 (GRCm39) I308F possibly damaging Het
Oasl1 G A 5: 115,075,466 (GRCm39) V509M probably benign Het
Obscn T C 11: 58,924,583 (GRCm39) M5727V probably benign Het
Or2d4 T C 7: 106,543,748 (GRCm39) I153M possibly damaging Het
Or4c114 T A 2: 88,904,545 (GRCm39) I297F probably benign Het
Or4k15c T A 14: 50,321,404 (GRCm39) T245S probably benign Het
Or5an1c A G 19: 12,218,891 (GRCm39) S45P probably damaging Het
Pcgf1 T C 6: 83,055,398 (GRCm39) I11T possibly damaging Het
Phactr3 T C 2: 177,924,893 (GRCm39) V276A probably benign Het
Pla2g6 A T 15: 79,202,168 (GRCm39) M1K probably null Het
Plec T C 15: 76,074,728 (GRCm39) E413G probably damaging Het
Plxna2 G T 1: 194,326,626 (GRCm39) A187S possibly damaging Het
Polq A T 16: 36,892,184 (GRCm39) probably benign Het
Pramel51 T C 12: 88,143,202 (GRCm39) K139E probably benign Het
Prss39 A G 1: 34,541,216 (GRCm39) D240G probably benign Het
Ptpn12 A T 5: 21,203,553 (GRCm39) Y408* probably null Het
Ptprt A G 2: 162,109,999 (GRCm39) probably benign Het
Rnf6 A T 5: 146,152,931 (GRCm39) S95T possibly damaging Het
Ryr2 T C 13: 11,866,090 (GRCm39) S287G possibly damaging Het
Samd4b A G 7: 28,113,491 (GRCm39) F158S possibly damaging Het
Slco1a5 T A 6: 142,182,012 (GRCm39) I571L possibly damaging Het
Smchd1 T C 17: 71,738,285 (GRCm39) T527A probably damaging Het
Smg9 T C 7: 24,120,691 (GRCm39) probably null Het
Snx25 A G 8: 46,558,197 (GRCm39) L270P probably damaging Het
Ssh1 G T 5: 114,096,883 (GRCm39) T165N probably benign Het
Stk24 T A 14: 121,540,218 (GRCm39) E127V probably damaging Het
Suco A G 1: 161,661,689 (GRCm39) V914A probably damaging Het
Tbcd T A 11: 121,366,506 (GRCm39) probably benign Het
Tbcel A T 9: 42,355,817 (GRCm39) L114Q possibly damaging Het
Trpm1 A G 7: 63,884,767 (GRCm39) D816G probably benign Het
Uhrf1 G A 17: 56,625,250 (GRCm39) V566M probably damaging Het
Ulk4 T A 9: 121,095,367 (GRCm39) E95D probably damaging Het
Vmn1r40 T C 6: 89,691,201 (GRCm39) M6T probably benign Het
Vmn2r59 C T 7: 41,661,983 (GRCm39) V611I possibly damaging Het
Vwde G T 6: 13,193,239 (GRCm39) H367N probably benign Het
Xpo6 A G 7: 125,723,553 (GRCm39) V585A probably benign Het
Other mutations in Calu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01142:Calu APN 6 29,366,207 (GRCm39) critical splice donor site probably null
IGL02926:Calu APN 6 29,366,919 (GRCm39) missense possibly damaging 0.74
IGL02966:Calu APN 6 29,356,584 (GRCm39) nonsense probably null
IGL03069:Calu APN 6 29,356,582 (GRCm39) missense possibly damaging 0.50
R0320:Calu UTSW 6 29,374,550 (GRCm39) utr 3 prime probably benign
R1080:Calu UTSW 6 29,366,919 (GRCm39) missense possibly damaging 0.74
R1487:Calu UTSW 6 29,366,955 (GRCm39) missense probably benign 0.38
R1560:Calu UTSW 6 29,361,657 (GRCm39) missense probably benign 0.00
R1993:Calu UTSW 6 29,366,974 (GRCm39) missense possibly damaging 0.88
R2074:Calu UTSW 6 29,372,614 (GRCm39) missense probably damaging 1.00
R3944:Calu UTSW 6 29,361,710 (GRCm39) missense possibly damaging 0.89
R5024:Calu UTSW 6 29,374,518 (GRCm39) utr 3 prime probably benign
R5874:Calu UTSW 6 29,372,617 (GRCm39) missense probably damaging 1.00
R7297:Calu UTSW 6 29,356,554 (GRCm39) nonsense probably null
R7675:Calu UTSW 6 29,356,516 (GRCm39) missense probably benign
R9070:Calu UTSW 6 29,356,567 (GRCm39) missense probably benign
R9484:Calu UTSW 6 29,366,162 (GRCm39) missense probably damaging 1.00
Z1177:Calu UTSW 6 29,372,514 (GRCm39) missense probably damaging 0.99
Posted On 2013-11-11