Incidental Mutation 'IGL00957:Hpcal1'
ID 28766
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpcal1
Ensembl Gene ENSMUSG00000071379
Gene Name hippocalcin-like 1
Synonyms Nvp3, visinin like 3, neural visinin-like 3, Vnsl3, VILIP3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL00957
Quality Score
Status
Chromosome 12
Chromosomal Location 17740857-17841934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 17837591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 142 (E142K)
Ref Sequence ENSEMBL: ENSMUSP00000152772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071858] [ENSMUST00000222944]
AlphaFold P62748
Predicted Effect probably benign
Transcript: ENSMUST00000071858
AA Change: E142K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000071756
Gene: ENSMUSG00000071379
AA Change: E142K

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 5.78e-7 SMART
EFh 148 176 7.4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000222944
AA Change: E142K

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2012]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 T A 1: 63,573,470 (GRCm39) I246N probably benign Het
Adora1 A G 1: 134,130,951 (GRCm39) L240P probably damaging Het
Ago4 C T 4: 126,410,926 (GRCm39) V188I probably benign Het
Ccdc138 T A 10: 58,364,838 (GRCm39) probably benign Het
Cpeb4 A G 11: 31,823,204 (GRCm39) Y306C probably damaging Het
Ctsz T C 2: 174,269,771 (GRCm39) E272G probably damaging Het
Dst G A 1: 34,267,488 (GRCm39) V5155I probably benign Het
Fabp12 C T 3: 10,315,273 (GRCm39) probably null Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Hspa4 G A 11: 53,171,514 (GRCm39) T230I probably benign Het
Htt T C 5: 34,964,068 (GRCm39) V387A probably benign Het
Loxl3 A G 6: 83,025,747 (GRCm39) probably benign Het
Lrrc30 G A 17: 67,939,499 (GRCm39) S27L probably benign Het
Mtpn A G 6: 35,516,547 (GRCm39) probably benign Het
Mug2 A G 6: 122,017,613 (GRCm39) Y450C probably damaging Het
Ncl A G 1: 86,284,091 (GRCm39) probably null Het
Or8k23 A T 2: 86,186,477 (GRCm39) V83E possibly damaging Het
Psmd3 T A 11: 98,576,394 (GRCm39) S99T probably benign Het
Rb1cc1 G A 1: 6,319,763 (GRCm39) A1061T probably damaging Het
Rhbdd1 T C 1: 82,318,362 (GRCm39) Y82H probably damaging Het
Slc5a6 T C 5: 31,196,279 (GRCm39) probably benign Het
Sox6 T C 7: 115,376,327 (GRCm39) K135R probably damaging Het
Tasor2 T A 13: 3,627,101 (GRCm39) I950F possibly damaging Het
Tbx21 A G 11: 96,989,920 (GRCm39) V424A probably benign Het
Trpa1 A T 1: 14,951,892 (GRCm39) Y936N probably damaging Het
Ttn G T 2: 76,569,280 (GRCm39) D25458E probably damaging Het
Zfp629 C T 7: 127,211,896 (GRCm39) V6M probably damaging Het
Other mutations in Hpcal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Hpcal1 APN 12 17,841,146 (GRCm39) missense probably benign 0.00
R0137:Hpcal1 UTSW 12 17,836,389 (GRCm39) missense probably damaging 1.00
R0920:Hpcal1 UTSW 12 17,841,098 (GRCm39) splice site probably benign
R1490:Hpcal1 UTSW 12 17,836,225 (GRCm39) missense probably benign
R5843:Hpcal1 UTSW 12 17,841,200 (GRCm39) missense probably benign 0.00
R7957:Hpcal1 UTSW 12 17,841,171 (GRCm39) missense probably damaging 1.00
R8838:Hpcal1 UTSW 12 17,836,197 (GRCm39) missense probably benign 0.16
R9780:Hpcal1 UTSW 12 17,836,494 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17