Incidental Mutation 'IGL00957:Hpcal1'
ID28766
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpcal1
Ensembl Gene ENSMUSG00000071379
Gene Namehippocalcin-like 1
SynonymsVnsl3, neural visinin-like 3, VILIP3, visinin like 3, Nvp3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.162) question?
Stock #IGL00957
Quality Score
Status
Chromosome12
Chromosomal Location17690856-17791933 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 17787590 bp
ZygosityHeterozygous
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]
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: 63,534,311 I246N probably benign Het
Adora1 A G 1: 134,203,213 L240P probably damaging Het
Ago4 C T 4: 126,517,133 V188I probably benign Het
Ccdc138 T A 10: 58,529,016 probably benign Het
Cpeb4 A G 11: 31,873,204 Y306C probably damaging Het
Ctsz T C 2: 174,427,978 E272G probably damaging Het
Dst G A 1: 34,228,407 V5155I probably benign Het
Fabp12 C T 3: 10,250,213 probably null Het
Fam208b T A 13: 3,577,101 I950F possibly damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hspa4 G A 11: 53,280,687 T230I probably benign Het
Htt T C 5: 34,806,724 V387A probably benign Het
Loxl3 A G 6: 83,048,766 probably benign Het
Lrrc30 G A 17: 67,632,504 S27L probably benign Het
Mtpn A G 6: 35,539,612 probably benign Het
Mug2 A G 6: 122,040,654 Y450C probably damaging Het
Ncl A G 1: 86,356,369 probably null Het
Olfr1056 A T 2: 86,356,133 V83E possibly damaging Het
Psmd3 T A 11: 98,685,568 S99T probably benign Het
Rb1cc1 G A 1: 6,249,539 A1061T probably damaging Het
Rhbdd1 T C 1: 82,340,641 Y82H probably damaging Het
Slc5a6 T C 5: 31,038,935 probably benign Het
Sox6 T C 7: 115,777,092 K135R probably damaging Het
Tbx21 A G 11: 97,099,094 V424A probably benign Het
Trpa1 A T 1: 14,881,668 Y936N probably damaging Het
Ttn G T 2: 76,738,936 D25458E probably damaging Het
Zfp629 C T 7: 127,612,724 V6M probably damaging Het
Other mutations in Hpcal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Hpcal1 APN 12 17791145 missense probably benign 0.00
R0137:Hpcal1 UTSW 12 17786388 missense probably damaging 1.00
R0920:Hpcal1 UTSW 12 17791097 splice site probably benign
R1490:Hpcal1 UTSW 12 17786224 missense probably benign
R5843:Hpcal1 UTSW 12 17791199 missense probably benign 0.00
Posted On2013-04-17