Incidental Mutation 'IGL02926:Calu'
ID 363867
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: 0.536) question?
Stock # IGL02926
Quality Score
Status
Chromosome 6
Chromosomal Location 29348105-29376674 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29366919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 44 (T44A)
Ref Sequence ENSEMBL: ENSMUSP00000134708 (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: T196A

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000031779
Gene: ENSMUSG00000029767
AA Change: T196A

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 possibly damaging
Transcript: ENSMUST00000090481
AA Change: T196A

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087967
Gene: ENSMUSG00000029767
AA Change: T196A

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 unknown
Transcript: ENSMUST00000156163
AA Change: T66A
SMART Domains Protein: ENSMUSP00000133615
Gene: ENSMUSG00000029767
AA Change: T66A

DomainStartEndE-ValueType
EFh 26 54 9.61e1 SMART
EFh 63 91 2.03e-2 SMART
Blast:EFh 104 132 3e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172974
AA Change: T196A

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133390
Gene: ENSMUSG00000029767
AA Change: T196A

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 possibly damaging
Transcript: ENSMUST00000173216
AA Change: T44A

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134708
Gene: ENSMUSG00000029767
AA Change: T44A

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 probably benign
Transcript: ENSMUST00000173694
SMART Domains Protein: ENSMUSP00000133436
Gene: ENSMUSG00000029767

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
SMART Domains Protein: ENSMUSP00000133945
Gene: ENSMUSG00000029767

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A T 6: 85,618,432 (GRCm39) D2826V probably damaging Het
Alpl C T 4: 137,469,945 (GRCm39) A460T probably damaging Het
C2cd5 A G 6: 142,976,963 (GRCm39) probably benign Het
C4b C T 17: 34,949,686 (GRCm39) R1468Q possibly damaging Het
Cgn T C 3: 94,685,326 (GRCm39) K399R probably benign Het
Ciao3 A G 17: 26,001,128 (GRCm39) H460R probably benign Het
Cyp2t4 G A 7: 26,857,228 (GRCm39) V356M probably damaging Het
D430041D05Rik T C 2: 104,044,604 (GRCm39) D683G probably damaging Het
Dhcr24 T A 4: 106,443,552 (GRCm39) I410N probably damaging Het
Dmap1 T A 4: 117,539,085 (GRCm39) E17V probably benign Het
Dnaaf9 C T 2: 130,554,286 (GRCm39) R921K probably benign Het
Dnah7a A G 1: 53,535,109 (GRCm39) I2717T possibly damaging Het
Epb41l3 G T 17: 69,554,741 (GRCm39) K280N probably damaging Het
Espl1 T A 15: 102,208,290 (GRCm39) M432K probably damaging Het
Fgf5 C A 5: 98,409,874 (GRCm39) A141E probably damaging Het
Fto T A 8: 92,211,795 (GRCm39) F373L probably damaging Het
Gpatch1 T C 7: 35,007,694 (GRCm39) D122G probably damaging Het
Ints11 T C 4: 155,972,568 (GRCm39) probably null Het
Jarid2 A G 13: 45,056,405 (GRCm39) Q398R probably benign Het
Kcnh1 A G 1: 191,959,208 (GRCm39) D254G probably damaging Het
Lamc3 C T 2: 31,825,737 (GRCm39) probably benign Het
Lamc3 C T 2: 31,825,738 (GRCm39) probably benign Het
Ltbp4 T C 7: 27,028,297 (GRCm39) probably null Het
Mcm6 A G 1: 128,267,119 (GRCm39) Y575H probably damaging Het
Myh9 A C 15: 77,671,826 (GRCm39) Y422D probably damaging Het
Or4c35 T C 2: 89,808,506 (GRCm39) L128P probably damaging Het
Or5b105 A C 19: 13,080,187 (GRCm39) N160K possibly damaging Het
Or8b47 T C 9: 38,435,021 (GRCm39) probably benign Het
Plcb1 T C 2: 135,206,682 (GRCm39) probably benign Het
Pmfbp1 A G 8: 110,246,881 (GRCm39) E251G probably damaging Het
Psg27 A T 7: 18,291,054 (GRCm39) V383E probably damaging Het
Ptprn A T 1: 75,224,517 (GRCm39) H946Q possibly damaging Het
Rbl1 A G 2: 157,009,333 (GRCm39) V734A probably benign Het
Rspry1 T A 8: 95,376,439 (GRCm39) N320K probably damaging Het
Ryr1 A T 7: 28,760,965 (GRCm39) V3219D probably damaging Het
Ryr2 C A 13: 11,774,721 (GRCm39) W1145L probably damaging Het
Scel A T 14: 103,813,683 (GRCm39) R319* probably null Het
Stxbp2 C T 8: 3,685,629 (GRCm39) T226I probably benign Het
Tac1 A T 6: 7,562,410 (GRCm39) N106I possibly damaging Het
Trim13 G T 14: 61,842,693 (GRCm39) probably null Het
Tspan31 T G 10: 126,904,778 (GRCm39) probably null Het
Usp36 C T 11: 118,155,609 (GRCm39) V723M probably benign Het
Utrn A T 10: 12,566,504 (GRCm39) N1219K probably damaging Het
Vcan G T 13: 89,836,742 (GRCm39) T2934K probably damaging Het
Other mutations in Calu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01142:Calu APN 6 29,366,207 (GRCm39) critical splice donor site probably null
IGL01432:Calu APN 6 29,356,552 (GRCm39) missense possibly damaging 0.92
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 2015-12-18