Incidental Mutation 'IGL00533:Hyls1'
ID 6182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hyls1
Ensembl Gene ENSMUSG00000050555
Gene Name HYLS1, centriolar and ciliogenesis associated
Synonyms hydrolethalus syndrome 1, 3010015K02Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.333) question?
Stock # IGL00533
Quality Score
Status
Chromosome 9
Chromosomal Location 35472117-35481365 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 35473220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 65 (Y65*)
Ref Sequence ENSEMBL: ENSMUSP00000110762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034612] [ENSMUST00000034615] [ENSMUST00000115110] [ENSMUST00000121246]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034612
SMART Domains Protein: ENSMUSP00000034612
Gene: ENSMUSG00000032101

DomainStartEndE-ValueType
low complexity region 50 61 N/A INTRINSIC
low complexity region 101 111 N/A INTRINSIC
DEXDc 117 316 1.26e-41 SMART
HELICc 353 440 6.18e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000034615
SMART Domains Protein: ENSMUSP00000034615
Gene: ENSMUSG00000032103

DomainStartEndE-ValueType
coiled coil region 1 46 N/A INTRINSIC
Pfam:PseudoU_synth_1 68 190 6.8e-12 PFAM
Pfam:PseudoU_synth_1 213 331 4.8e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000115110
AA Change: Y65*
SMART Domains Protein: ENSMUSP00000110762
Gene: ENSMUSG00000050555
AA Change: Y65*

DomainStartEndE-ValueType
low complexity region 87 100 N/A INTRINSIC
Pfam:HYLS1_C 211 299 6.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121246
SMART Domains Protein: ENSMUSP00000113382
Gene: ENSMUSG00000032103

DomainStartEndE-ValueType
coiled coil region 1 46 N/A INTRINSIC
Pfam:PseudoU_synth_1 68 190 3e-12 PFAM
Pfam:PseudoU_synth_1 213 316 1.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135768
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A T 16: 30,958,293 (GRCm39) L175Q probably damaging Het
Akna A T 4: 63,316,110 (GRCm39) probably null Het
Arhgef38 C T 3: 132,822,220 (GRCm39) W181* probably null Het
Gm5581 A T 6: 131,144,604 (GRCm39) noncoding transcript Het
Map1b A G 13: 99,569,112 (GRCm39) I1203T unknown Het
Met C T 6: 17,534,936 (GRCm39) probably benign Het
Pcdh15 A G 10: 74,338,552 (GRCm39) T1065A probably damaging Het
Proser3 A G 7: 30,240,096 (GRCm39) V336A possibly damaging Het
Prpf40a G A 2: 53,035,355 (GRCm39) R729C probably damaging Het
Ptprk A G 10: 28,461,971 (GRCm39) E1152G probably damaging Het
Scn11a A C 9: 119,603,447 (GRCm39) D1073E probably damaging Het
Spsb3 C T 17: 25,109,539 (GRCm39) probably benign Het
Other mutations in Hyls1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Hyls1 APN 9 35,473,408 (GRCm39) intron probably benign
IGL01936:Hyls1 APN 9 35,473,363 (GRCm39) missense probably benign
IGL02979:Hyls1 APN 9 35,472,970 (GRCm39) missense probably benign 0.00
R0519:Hyls1 UTSW 9 35,472,499 (GRCm39) missense probably damaging 1.00
R0894:Hyls1 UTSW 9 35,472,528 (GRCm39) missense probably damaging 1.00
R2302:Hyls1 UTSW 9 35,475,365 (GRCm39) missense possibly damaging 0.55
R3909:Hyls1 UTSW 9 35,472,705 (GRCm39) missense probably damaging 1.00
R4111:Hyls1 UTSW 9 35,472,714 (GRCm39) missense probably damaging 1.00
R4113:Hyls1 UTSW 9 35,472,714 (GRCm39) missense probably damaging 1.00
R5725:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R5727:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R5833:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R5834:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R5835:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R6030:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R6030:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R6031:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R6031:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R6037:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R6037:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R6269:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R6270:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R6271:Hyls1 UTSW 9 35,472,480 (GRCm39) missense probably benign 0.01
R8685:Hyls1 UTSW 9 35,472,724 (GRCm39) missense probably damaging 1.00
R9532:Hyls1 UTSW 9 35,473,398 (GRCm39) missense probably benign 0.05
Posted On 2012-04-20