Incidental Mutation 'IGL00964:Hyls1'
ID 28232
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 # IGL00964
Quality Score
Status
Chromosome 9
Chromosomal Location 35472117-35481365 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 35473408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113382 (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 benign
Transcript: ENSMUST00000115110
SMART Domains Protein: ENSMUSP00000110762
Gene: ENSMUSG00000050555

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik T A 7: 44,009,610 (GRCm39) *197C probably null Het
Acsl6 A G 11: 54,216,472 (GRCm39) Y213C probably damaging Het
Agt T C 8: 125,284,634 (GRCm39) probably benign Het
Aifm3 A G 16: 17,318,228 (GRCm39) D144G probably damaging Het
Alad T C 4: 62,432,330 (GRCm39) I32V probably benign Het
Astn2 T A 4: 66,103,424 (GRCm39) M330L unknown Het
AU040320 T A 4: 126,748,199 (GRCm39) C1029* probably null Het
Brca2 T A 5: 150,455,775 (GRCm39) I172N probably damaging Het
Brme1 T C 8: 84,893,343 (GRCm39) I170T probably benign Het
Cdk5rap3 A G 11: 96,800,765 (GRCm39) probably null Het
Dusp26 G T 8: 31,584,136 (GRCm39) R81L probably benign Het
Dync2h1 T C 9: 7,174,881 (GRCm39) probably benign Het
Ehd4 A G 2: 119,958,163 (GRCm39) C141R probably benign Het
Ftsj3 G T 11: 106,143,941 (GRCm39) A261D probably benign Het
Gm5431 G A 11: 48,780,094 (GRCm39) T554I probably damaging Het
Ifi213 T A 1: 173,421,518 (GRCm39) T124S possibly damaging Het
Ints10 T A 8: 69,264,638 (GRCm39) I457N probably damaging Het
Klk1b1 T G 7: 43,620,593 (GRCm39) S228A possibly damaging Het
Lpar2 T C 8: 70,279,162 (GRCm39) S319P probably benign Het
Lsr T C 7: 30,671,421 (GRCm39) N104S probably damaging Het
Mybpc1 T A 10: 88,391,604 (GRCm39) probably null Het
Nalcn T A 14: 123,532,796 (GRCm39) probably benign Het
Ovol2 G A 2: 144,147,599 (GRCm39) A217V probably damaging Het
Pcdh12 T A 18: 38,415,784 (GRCm39) Q447L probably benign Het
Pdgfra T C 5: 75,335,726 (GRCm39) I453T probably damaging Het
Ptprd C T 4: 75,916,793 (GRCm39) W1037* probably null Het
Rabgef1 T C 5: 130,219,863 (GRCm39) S109P probably damaging Het
Rev3l T C 10: 39,740,802 (GRCm39) I2995T probably benign Het
Slamf6 T A 1: 171,745,347 (GRCm39) C25S probably null Het
Slc28a2b A T 2: 122,347,527 (GRCm39) Q229H probably damaging Het
Sorbs2 A C 8: 46,248,714 (GRCm39) N520T probably damaging Het
Spr-ps1 C A 6: 85,132,016 (GRCm39) noncoding transcript Het
Stx4a A G 7: 127,441,898 (GRCm39) Q92R probably benign Het
Tab2 A C 10: 7,785,837 (GRCm39) V638G probably benign Het
Trim41 C A 11: 48,703,190 (GRCm39) R79S possibly damaging Het
Ttll5 A G 12: 85,896,057 (GRCm39) Y135C possibly damaging Het
Zan T C 5: 137,404,203 (GRCm39) probably benign Het
Zdhhc14 T A 17: 5,762,756 (GRCm39) L220Q probably damaging Het
Other mutations in Hyls1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00533:Hyls1 APN 9 35,473,220 (GRCm39) nonsense probably null
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 2013-04-17