Incidental Mutation 'IGL00964:Hyls1'
ID28232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hyls1
Ensembl Gene ENSMUSG00000050555
Gene NameHYLS1, centriolar and ciliogenesis associated
Synonyms3010015K02Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.408) question?
Stock #IGL00964
Quality Score
Status
Chromosome9
Chromosomal Location35560820-35570398 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 35562112 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034612] [ENSMUST00000034615] [ENSMUST00000115110] [ENSMUST00000121246]
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: 44,360,186 *197C probably null Het
4930432K21Rik T C 8: 84,166,714 I170T probably benign Het
Acsl6 A G 11: 54,325,646 Y213C probably damaging Het
Agt T C 8: 124,557,895 probably benign Het
Aifm3 A G 16: 17,500,364 D144G probably damaging Het
Alad T C 4: 62,514,093 I32V probably benign Het
Astn2 T A 4: 66,185,187 M330L unknown Het
AU040320 T A 4: 126,854,406 C1029* probably null Het
Brca2 T A 5: 150,532,310 I172N probably damaging Het
Cdk5rap3 A G 11: 96,909,939 probably null Het
Dusp26 G T 8: 31,094,108 R81L probably benign Het
Dync2h1 T C 9: 7,174,881 probably benign Het
Ehd4 A G 2: 120,127,682 C141R probably benign Het
Ftsj3 G T 11: 106,253,115 A261D probably benign Het
Gm14085 A T 2: 122,517,046 Q229H probably damaging Het
Gm5431 G A 11: 48,889,267 T554I probably damaging Het
Ifi213 T A 1: 173,593,952 T124S possibly damaging Het
Ints10 T A 8: 68,811,986 I457N probably damaging Het
Klk1b1 T G 7: 43,971,169 S228A possibly damaging Het
Lpar2 T C 8: 69,826,512 S319P probably benign Het
Lsr T C 7: 30,971,996 N104S probably damaging Het
Mybpc1 T A 10: 88,555,742 probably null Het
Nalcn T A 14: 123,295,384 probably benign Het
Ovol2 G A 2: 144,305,679 A217V probably damaging Het
Pcdh12 T A 18: 38,282,731 Q447L probably benign Het
Pdgfra T C 5: 75,175,065 I453T probably damaging Het
Ptprd C T 4: 75,998,556 W1037* probably null Het
Rabgef1 T C 5: 130,191,022 S109P probably damaging Het
Rev3l T C 10: 39,864,806 I2995T probably benign Het
Slamf6 T A 1: 171,917,780 C25S probably null Het
Sorbs2 A C 8: 45,795,677 N520T probably damaging Het
Spr-ps1 C A 6: 85,155,034 noncoding transcript Het
Stx4a A G 7: 127,842,726 Q92R probably benign Het
Tab2 A C 10: 7,910,073 V638G probably benign Het
Trim41 C A 11: 48,812,363 R79S possibly damaging Het
Ttll5 A G 12: 85,849,283 Y135C possibly damaging Het
Zan T C 5: 137,405,941 probably benign Het
Zdhhc14 T A 17: 5,712,481 L220Q probably damaging Het
Other mutations in Hyls1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00533:Hyls1 APN 9 35561924 nonsense probably null
IGL01936:Hyls1 APN 9 35562067 missense probably benign
IGL02979:Hyls1 APN 9 35561674 missense probably benign 0.00
R0519:Hyls1 UTSW 9 35561203 missense probably damaging 1.00
R0894:Hyls1 UTSW 9 35561232 missense probably damaging 1.00
R2302:Hyls1 UTSW 9 35564069 missense possibly damaging 0.55
R3909:Hyls1 UTSW 9 35561409 missense probably damaging 1.00
R4111:Hyls1 UTSW 9 35561418 missense probably damaging 1.00
R4113:Hyls1 UTSW 9 35561418 missense probably damaging 1.00
R5725:Hyls1 UTSW 9 35561184 missense probably benign 0.01
R5727:Hyls1 UTSW 9 35561184 missense probably benign 0.01
R5833:Hyls1 UTSW 9 35561184 missense probably benign 0.01
R5834:Hyls1 UTSW 9 35561184 missense probably benign 0.01
R5835:Hyls1 UTSW 9 35561184 missense probably benign 0.01
R6030:Hyls1 UTSW 9 35561184 missense probably benign 0.01
R6030:Hyls1 UTSW 9 35561184 missense probably benign 0.01
R6031:Hyls1 UTSW 9 35561184 missense probably benign 0.01
R6031:Hyls1 UTSW 9 35561184 missense probably benign 0.01
R6037:Hyls1 UTSW 9 35561184 missense probably benign 0.01
R6037:Hyls1 UTSW 9 35561184 missense probably benign 0.01
R6269:Hyls1 UTSW 9 35561184 missense probably benign 0.01
R6270:Hyls1 UTSW 9 35561184 missense probably benign 0.01
R6271:Hyls1 UTSW 9 35561184 missense probably benign 0.01
Posted On2013-04-17