Incidental Mutation 'IGL01386:Hpcal4'
ID 79067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpcal4
Ensembl Gene ENSMUSG00000046093
Gene Name hippocalcin-like 4
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01386
Quality Score
Status
Chromosome 4
Chromosomal Location 123077297-123088492 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 123083035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059667] [ENSMUST00000106246] [ENSMUST00000126995] [ENSMUST00000152194]
AlphaFold Q8BGZ1
Predicted Effect probably null
Transcript: ENSMUST00000059667
SMART Domains Protein: ENSMUSP00000051487
Gene: ENSMUSG00000046093

DomainStartEndE-ValueType
EFh 64 92 3.01e-5 SMART
EFh 100 128 4.88e-5 SMART
EFh 150 178 1.95e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106246
SMART Domains Protein: ENSMUSP00000101853
Gene: ENSMUSG00000046093

DomainStartEndE-ValueType
EFh 64 92 3.01e-5 SMART
EFh 100 128 4.88e-5 SMART
EFh 150 178 1.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126995
Predicted Effect probably null
Transcript: ENSMUST00000152194
SMART Domains Protein: ENSMUSP00000120066
Gene: ENSMUSG00000046093

DomainStartEndE-ValueType
EFh 64 92 3.01e-5 SMART
EFh 100 128 4.88e-5 SMART
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 highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has similarity to rat neural visinin-like Ca2+-binding protein-type 1 and 2 proteins. This encoded protein may be involved in the calcium-dependent regulation of rhodopsin phosphorylation. The transcript of this gene has multiple polyadenylation sites. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,240,446 (GRCm39) R214G probably benign Het
Cacna1e T A 1: 154,348,123 (GRCm39) K817N probably benign Het
Cyp3a16 A G 5: 145,377,244 (GRCm39) F448L probably damaging Het
Dpp6 T A 5: 27,869,760 (GRCm39) probably null Het
Eif2ak3 C T 6: 70,869,710 (GRCm39) T799M probably damaging Het
Erbb4 A T 1: 68,383,090 (GRCm39) S302R probably damaging Het
Fam217a T A 13: 35,099,632 (GRCm39) probably benign Het
Flt4 C A 11: 49,528,162 (GRCm39) A995D probably benign Het
Fpr-rs7 G A 17: 20,334,454 (GRCm39) S12L probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Intu A T 3: 40,647,017 (GRCm39) D630V probably damaging Het
Jak3 A G 8: 72,136,933 (GRCm39) D703G probably damaging Het
Lama4 A G 10: 38,887,060 (GRCm39) I122V probably benign Het
Mrpl11 A C 19: 5,013,409 (GRCm39) K92T probably null Het
Mtarc2 A G 1: 184,551,413 (GRCm39) probably benign Het
Mylk A G 16: 34,791,610 (GRCm39) probably null Het
Or52ab4 A T 7: 102,987,974 (GRCm39) K238* probably null Het
Parpbp A C 10: 87,975,848 (GRCm39) Y88* probably null Het
Plod2 G A 9: 92,488,655 (GRCm39) R627Q probably damaging Het
Rapsn G T 2: 90,867,144 (GRCm39) A149S probably damaging Het
Ripk3 T G 14: 56,023,484 (GRCm39) Q109P probably damaging Het
Scaf11 T C 15: 96,318,361 (GRCm39) D401G probably damaging Het
Serpine2 G A 1: 79,779,268 (GRCm39) T150I probably damaging Het
Sh2d6 T A 6: 72,495,945 (GRCm39) T98S probably benign Het
Slc28a1 G T 7: 80,814,427 (GRCm39) A513S probably benign Het
Tanc2 T C 11: 105,777,207 (GRCm39) F795S probably damaging Het
Tcim T A 8: 24,928,705 (GRCm39) I70F probably benign Het
Thbd G A 2: 148,249,602 (GRCm39) Q89* probably null Het
Tmem115 C T 9: 107,411,859 (GRCm39) T61I probably damaging Het
Tsc2 A T 17: 24,832,259 (GRCm39) V650E probably damaging Het
Tubgcp6 A T 15: 88,992,199 (GRCm39) Y595* probably null Het
Uroc1 C T 6: 90,323,747 (GRCm39) A398V probably damaging Het
Vmn1r31 T C 6: 58,449,587 (GRCm39) T93A probably benign Het
Vmn2r113 A G 17: 23,175,024 (GRCm39) E545G possibly damaging Het
Vps13a A G 19: 16,678,516 (GRCm39) V1155A possibly damaging Het
Zfp667 A G 7: 6,307,869 (GRCm39) H179R probably benign Het
Other mutations in Hpcal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0551:Hpcal4 UTSW 4 123,082,848 (GRCm39) missense possibly damaging 0.95
R1669:Hpcal4 UTSW 4 123,082,869 (GRCm39) missense probably damaging 1.00
R1723:Hpcal4 UTSW 4 123,084,532 (GRCm39) missense probably benign 0.00
R4798:Hpcal4 UTSW 4 123,084,491 (GRCm39) missense possibly damaging 0.68
R5486:Hpcal4 UTSW 4 123,084,557 (GRCm39) missense probably benign
R6076:Hpcal4 UTSW 4 123,084,514 (GRCm39) missense probably benign 0.01
R8671:Hpcal4 UTSW 4 123,082,976 (GRCm39) missense probably benign 0.00
Posted On 2013-11-05