Incidental Mutation 'IGL01432:Calu'
ID84194
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calu
Ensembl Gene ENSMUSG00000029767
Gene Namecalumenin
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.551) question?
Stock #IGL01432
Quality Score
Status
Chromosome6
Chromosomal Location29348069-29377110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 29356553 bp
ZygosityHeterozygous
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]
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
4932438A13Rik T A 3: 37,003,759 V3166E possibly damaging Het
Aldh9a1 T C 1: 167,355,785 S191P probably damaging Het
Aldoart2 A T 12: 55,565,781 I164F probably damaging Het
Anapc1 C A 2: 128,633,408 A1384S probably damaging Het
Arid5a T G 1: 36,319,433 S429A possibly damaging Het
Asxl1 A G 2: 153,400,205 K892E probably benign Het
Bpnt1 G A 1: 185,354,021 W261* probably null Het
Ccdc113 C T 8: 95,538,257 probably benign Het
Cd109 T C 9: 78,698,123 Y1003H probably benign Het
Cdh9 A G 15: 16,830,947 K290R probably damaging Het
Cep131 G A 11: 120,077,009 A140V possibly damaging Het
Chn1 A T 2: 73,631,752 C236S probably damaging Het
Cntn4 T A 6: 106,678,334 probably benign Het
Crispld1 A T 1: 17,746,801 Q194L probably benign Het
Csmd3 A G 15: 47,733,499 V1981A probably damaging Het
Cttn A G 7: 144,461,306 I55T probably damaging Het
Ddx46 G T 13: 55,638,022 probably benign Het
Diaph1 A T 18: 37,897,504 I299N unknown Het
Dll1 A G 17: 15,368,506 Y636H probably damaging Het
Eng A T 2: 32,669,532 Q111L possibly damaging Het
Exoc6 T C 19: 37,589,876 V389A possibly damaging Het
Fbxw26 T A 9: 109,717,975 T461S probably benign Het
Gbf1 T C 19: 46,279,995 Y1269H probably damaging Het
Gm10436 T C 12: 88,176,432 K139E probably benign Het
Gm5852 A G 3: 93,727,779 Y90H possibly damaging Het
Gnrhr C T 5: 86,182,193 G323R probably damaging Het
Gpr155 T A 2: 73,351,885 E661D possibly damaging Het
Grik4 A T 9: 42,521,176 C842S probably damaging Het
Iws1 A G 18: 32,083,466 probably benign Het
Kif5c A G 2: 49,701,077 T314A probably damaging Het
Klhdc1 A C 12: 69,251,977 K112T probably damaging Het
Kmt2a T C 9: 44,809,096 T3865A unknown Het
Lgr5 T C 10: 115,453,092 K477R probably damaging Het
Ly75 A T 2: 60,376,007 L106Q probably damaging Het
Mcph1 T A 8: 18,625,639 M26K probably damaging Het
Mettl2 T C 11: 105,126,522 V9A probably benign Het
Mgat5b A G 11: 116,973,376 D456G probably benign Het
Mstn A G 1: 53,066,530 T344A possibly damaging Het
Npr1 T A 3: 90,463,236 I308F possibly damaging Het
Oasl1 G A 5: 114,937,407 V509M probably benign Het
Obscn T C 11: 59,033,757 M5727V probably benign Het
Olfr1219 T A 2: 89,074,201 I297F probably benign Het
Olfr262 A G 19: 12,241,527 S45P probably damaging Het
Olfr710 T C 7: 106,944,541 I153M possibly damaging Het
Olfr726 T A 14: 50,083,947 T245S probably benign Het
Pcgf1 T C 6: 83,078,417 I11T possibly damaging Het
Phactr3 T C 2: 178,283,100 V276A probably benign Het
Pla2g6 A T 15: 79,317,968 M1K probably null Het
Plec T C 15: 76,190,528 E413G probably damaging Het
Plxna2 G T 1: 194,644,318 A187S possibly damaging Het
Polq A T 16: 37,071,822 probably benign Het
Prss39 A G 1: 34,502,135 D240G probably benign Het
Ptpn12 A T 5: 20,998,555 Y408* probably null Het
Ptprt A G 2: 162,268,079 probably benign Het
Rnf6 A T 5: 146,216,121 S95T possibly damaging Het
Ryr2 T C 13: 11,851,204 S287G possibly damaging Het
Samd4b A G 7: 28,414,066 F158S possibly damaging Het
Slco1a5 T A 6: 142,236,286 I571L possibly damaging Het
Smchd1 T C 17: 71,431,290 T527A probably damaging Het
Smg9 T C 7: 24,421,266 probably null Het
Snx25 A G 8: 46,105,160 L270P probably damaging Het
Ssh1 G T 5: 113,958,822 T165N probably benign Het
Stk24 T A 14: 121,302,806 E127V probably damaging Het
Suco A G 1: 161,834,120 V914A probably damaging Het
Tbcd T A 11: 121,475,680 probably benign Het
Tbcel A T 9: 42,444,521 L114Q possibly damaging Het
Trpm1 A G 7: 64,235,019 D816G probably benign Het
Uhrf1 G A 17: 56,318,250 V566M probably damaging Het
Ulk4 T A 9: 121,266,301 E95D probably damaging Het
Vmn1r40 T C 6: 89,714,219 M6T probably benign Het
Vmn2r59 C T 7: 42,012,559 V611I possibly damaging Het
Vwde G T 6: 13,193,240 H367N probably benign Het
Wdr66 A G 5: 123,279,952 I81M possibly damaging Het
Xpo6 A G 7: 126,124,381 V585A probably benign Het
Other mutations in Calu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01142:Calu APN 6 29366208 critical splice donor site probably null
IGL02926:Calu APN 6 29366920 missense possibly damaging 0.74
IGL02966:Calu APN 6 29356585 nonsense probably null
IGL03069:Calu APN 6 29356583 missense possibly damaging 0.50
R0320:Calu UTSW 6 29374551 utr 3 prime probably benign
R1080:Calu UTSW 6 29366920 missense possibly damaging 0.74
R1487:Calu UTSW 6 29366956 missense probably benign 0.38
R1560:Calu UTSW 6 29361658 missense probably benign 0.00
R1993:Calu UTSW 6 29366975 missense possibly damaging 0.88
R2074:Calu UTSW 6 29372615 missense probably damaging 1.00
R3944:Calu UTSW 6 29361711 missense possibly damaging 0.89
R5024:Calu UTSW 6 29374519 utr 3 prime probably benign
R5874:Calu UTSW 6 29372618 missense probably damaging 1.00
R7297:Calu UTSW 6 29356555 nonsense probably null
R7675:Calu UTSW 6 29356517 missense probably benign
Posted On2013-11-11