Incidental Mutation 'IGL00501:Hycc1'
ID 6474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hycc1
Ensembl Gene ENSMUSG00000028995
Gene Name hyccin PI4KA lipid kinase complex subunit 1
Synonyms Fam126a, hyccin
Accession Numbers
Essential gene? Possibly essential (E-score: 0.743) question?
Stock # IGL00501
Quality Score
Status
Chromosome 5
Chromosomal Location 24120274-24235688 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 24190843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030849] [ENSMUST00000101513] [ENSMUST00000115109] [ENSMUST00000197617]
AlphaFold Q6P9N1
Predicted Effect probably benign
Transcript: ENSMUST00000030849
SMART Domains Protein: ENSMUSP00000030849
Gene: ENSMUSG00000028995

DomainStartEndE-ValueType
Pfam:Hyccin 22 330 2.7e-133 PFAM
low complexity region 353 373 N/A INTRINSIC
low complexity region 415 434 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101513
SMART Domains Protein: ENSMUSP00000099050
Gene: ENSMUSG00000028995

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 8e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115109
SMART Domains Protein: ENSMUSP00000110761
Gene: ENSMUSG00000028995

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 2.2e-141 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147179
Predicted Effect probably benign
Transcript: ENSMUST00000197617
SMART Domains Protein: ENSMUSP00000143784
Gene: ENSMUSG00000028995

DomainStartEndE-ValueType
Pfam:Hyccin 1 248 1.7e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198867
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 may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T C 9: 53,493,895 (GRCm39) I409V probably damaging Het
Adck1 A G 12: 88,335,192 (GRCm39) N26S probably benign Het
Adgrf5 G A 17: 43,760,806 (GRCm39) A834T possibly damaging Het
Agpat5 T C 8: 18,926,148 (GRCm39) probably null Het
Ano8 A C 8: 71,931,793 (GRCm39) probably null Het
Baz2a T A 10: 127,950,494 (GRCm39) M476K probably benign Het
Cgas G A 9: 78,342,869 (GRCm39) A311V probably damaging Het
Col16a1 A G 4: 129,988,345 (GRCm39) probably null Het
Cyp3a13 A T 5: 137,910,195 (GRCm39) I113N probably benign Het
Dstn A G 2: 143,784,094 (GRCm39) T146A probably benign Het
Eif2ak1 A T 5: 143,826,288 (GRCm39) M434L probably damaging Het
Gba2 G A 4: 43,568,477 (GRCm39) A663V probably damaging Het
Gja10 T C 4: 32,601,230 (GRCm39) T385A possibly damaging Het
Gm42878 A C 5: 121,671,406 (GRCm39) I209R probably damaging Het
Grk1 T A 8: 13,457,835 (GRCm39) V245E probably damaging Het
H2az1 T C 3: 137,571,357 (GRCm39) V53A probably damaging Het
Kctd16 G A 18: 40,390,440 (GRCm39) probably benign Het
Klhdc8b C T 9: 108,326,105 (GRCm39) R263H probably benign Het
Lcn8 T C 2: 25,545,119 (GRCm39) probably benign Het
Ldlr T C 9: 21,646,657 (GRCm39) probably null Het
Lrrc40 T C 3: 157,766,919 (GRCm39) F458S probably damaging Het
Lypla1 T A 1: 4,898,810 (GRCm39) H35Q probably damaging Het
Mink1 C T 11: 70,494,638 (GRCm39) T273I probably damaging Het
Neb A G 2: 52,185,356 (GRCm39) F959L probably benign Het
Nedd4l A T 18: 65,341,163 (GRCm39) D704V probably damaging Het
Peak1 C T 9: 56,134,610 (GRCm39) E1274K probably damaging Het
Prkcz G T 4: 155,378,858 (GRCm39) probably benign Het
Rabgap1 T A 2: 37,359,558 (GRCm39) N40K probably damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Spink5 A G 18: 44,110,806 (GRCm39) T126A probably damaging Het
Tanc2 T C 11: 105,814,046 (GRCm39) V1830A probably benign Het
Tmem104 T C 11: 115,134,763 (GRCm39) I433T probably damaging Het
Trim10 G A 17: 37,187,939 (GRCm39) R385K probably benign Het
Zbtb44 A G 9: 30,965,606 (GRCm39) I339V possibly damaging Het
Other mutations in Hycc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03365:Hycc1 APN 5 24,188,158 (GRCm39) missense probably benign 0.30
Dropsy UTSW 5 24,204,956 (GRCm39) missense probably damaging 0.99
R0070:Hycc1 UTSW 5 24,169,997 (GRCm39) missense probably damaging 1.00
R0070:Hycc1 UTSW 5 24,169,997 (GRCm39) missense probably damaging 1.00
R0616:Hycc1 UTSW 5 24,191,770 (GRCm39) missense probably damaging 0.99
R0645:Hycc1 UTSW 5 24,184,506 (GRCm39) missense probably damaging 1.00
R1364:Hycc1 UTSW 5 24,170,351 (GRCm39) missense probably benign
R1462:Hycc1 UTSW 5 24,190,730 (GRCm39) splice site probably benign
R1544:Hycc1 UTSW 5 24,170,139 (GRCm39) missense probably benign 0.00
R1670:Hycc1 UTSW 5 24,204,989 (GRCm39) start codon destroyed possibly damaging 0.95
R1796:Hycc1 UTSW 5 24,191,149 (GRCm39) missense probably damaging 1.00
R4433:Hycc1 UTSW 5 24,184,579 (GRCm39) missense possibly damaging 0.77
R4523:Hycc1 UTSW 5 24,170,120 (GRCm39) missense probably benign 0.01
R5220:Hycc1 UTSW 5 24,170,220 (GRCm39) missense possibly damaging 0.64
R5453:Hycc1 UTSW 5 24,192,877 (GRCm39) splice site probably null
R5694:Hycc1 UTSW 5 24,196,794 (GRCm39) missense probably damaging 1.00
R5703:Hycc1 UTSW 5 24,185,577 (GRCm39) splice site probably null
R6144:Hycc1 UTSW 5 24,171,367 (GRCm39) missense possibly damaging 0.45
R6547:Hycc1 UTSW 5 24,170,098 (GRCm39) missense probably benign 0.04
R6579:Hycc1 UTSW 5 24,171,381 (GRCm39) missense possibly damaging 0.77
R6906:Hycc1 UTSW 5 24,204,956 (GRCm39) missense probably damaging 0.99
R6924:Hycc1 UTSW 5 24,191,133 (GRCm39) splice site probably null
R6959:Hycc1 UTSW 5 24,196,754 (GRCm39) missense possibly damaging 0.84
R7068:Hycc1 UTSW 5 24,169,793 (GRCm39) missense possibly damaging 0.85
R7699:Hycc1 UTSW 5 24,120,494 (GRCm39) missense probably damaging 0.98
R8748:Hycc1 UTSW 5 24,170,320 (GRCm39) missense probably benign 0.17
R8785:Hycc1 UTSW 5 24,169,904 (GRCm39) missense probably damaging 1.00
R8958:Hycc1 UTSW 5 24,169,934 (GRCm39) missense probably benign 0.01
R9053:Hycc1 UTSW 5 24,184,579 (GRCm39) missense possibly damaging 0.69
R9623:Hycc1 UTSW 5 24,170,255 (GRCm39) missense probably benign 0.02
R9751:Hycc1 UTSW 5 24,196,748 (GRCm39) missense probably benign 0.01
R9760:Hycc1 UTSW 5 24,184,572 (GRCm39) missense possibly damaging 0.66
Posted On 2012-04-20