Incidental Mutation 'R6031:Hyls1'
ID 486283
Institutional Source Beutler Lab
Gene Symbol Hyls1
Ensembl Gene ENSMUSG00000050555
Gene Name HYLS1, centriolar and ciliogenesis associated
Synonyms hydrolethalus syndrome 1, 3010015K02Rik
MMRRC Submission 044203-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.333) question?
Stock # R6031 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 35472117-35481365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35472480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 312 (S312F)
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 benign
Transcript: ENSMUST00000115110
AA Change: S312F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000110762
Gene: ENSMUSG00000050555
AA Change: S312F

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,214,084 (GRCm39) Y304H possibly damaging Het
Add2 A G 6: 86,075,655 (GRCm39) E268G probably damaging Het
Akr1b1 A C 6: 34,289,609 (GRCm39) V67G probably benign Het
Alms1 A T 6: 85,599,937 (GRCm39) N1588Y probably damaging Het
Arhgap23 A T 11: 97,366,965 (GRCm39) D1082V probably damaging Het
Asb6 A G 2: 30,714,207 (GRCm39) V301A probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Atg7 T A 6: 114,648,194 (GRCm39) C31S probably benign Het
Camsap2 A T 1: 136,208,176 (GRCm39) N1105K possibly damaging Het
Ccdc125 C T 13: 100,820,877 (GRCm39) probably null Het
Ccdc63 T C 5: 122,267,799 (GRCm39) I56V possibly damaging Het
Cpd T C 11: 76,681,714 (GRCm39) E1143G probably benign Het
Cpt1a T A 19: 3,421,556 (GRCm39) probably null Het
Creb3l2 A T 6: 37,311,369 (GRCm39) D473E probably benign Het
Disp2 G T 2: 118,620,275 (GRCm39) V336L probably benign Het
Efr3b A G 12: 4,017,106 (GRCm39) I782T possibly damaging Het
Fam98a A G 17: 75,846,427 (GRCm39) V230A probably damaging Het
Fat3 T A 9: 15,899,788 (GRCm39) T3082S probably benign Het
Frmd3 T C 4: 74,105,688 (GRCm39) Y445H probably damaging Het
Galt G A 4: 41,757,202 (GRCm39) R185Q probably benign Het
Gatb T C 3: 85,520,818 (GRCm39) I309T possibly damaging Het
Gfi1b G A 2: 28,503,820 (GRCm39) Q127* probably null Het
Gfpt1 C A 6: 87,063,302 (GRCm39) T563N probably damaging Het
Gria1 A G 11: 57,108,608 (GRCm39) D237G probably damaging Het
Hspbp1 A T 7: 4,666,465 (GRCm39) V305D probably benign Het
Iars1 T C 13: 49,859,307 (GRCm39) V9A probably damaging Het
Ipo4 G A 14: 55,869,596 (GRCm39) P355S probably damaging Het
Jade2 G T 11: 51,717,413 (GRCm39) C314* probably null Het
Kri1 T C 9: 21,186,565 (GRCm39) E597G probably benign Het
Mcub A G 3: 129,720,038 (GRCm39) Y152H probably damaging Het
Med23 C T 10: 24,779,646 (GRCm39) R542* probably null Het
Ndc80 T C 17: 71,818,483 (GRCm39) N291S probably benign Het
Nop2 T C 6: 125,110,529 (GRCm39) probably null Het
Nrxn1 T C 17: 90,896,218 (GRCm39) N984S probably damaging Het
Ntm A C 9: 28,920,671 (GRCm39) L86R probably damaging Het
Numa1 T A 7: 101,661,219 (GRCm39) D1847E possibly damaging Het
Odf2l A G 3: 144,845,624 (GRCm39) Q334R probably damaging Het
Or10ak11 A T 4: 118,687,588 (GRCm39) probably null Het
Or2ag2 C T 7: 106,485,134 (GRCm39) V297I possibly damaging Het
Or4a39 T A 2: 89,237,316 (GRCm39) T36S probably damaging Het
Or5ac17 T C 16: 59,036,296 (GRCm39) R227G probably benign Het
Or6ae1 A T 7: 139,742,722 (GRCm39) V47E possibly damaging Het
Or6c203 A G 10: 129,010,224 (GRCm39) V222A probably benign Het
Pacc1 A G 1: 191,073,037 (GRCm39) R153G probably benign Het
Pcdhb19 A T 18: 37,630,776 (GRCm39) K190N probably damaging Het
Pdik1l A G 4: 134,006,352 (GRCm39) F197L probably damaging Het
Rnf113a2 T C 12: 84,464,764 (GRCm39) F219L probably damaging Het
Rnf208 A C 2: 25,133,776 (GRCm39) T157P probably damaging Het
RP23-145I16.3 A T 7: 141,930,451 (GRCm39) C364S probably damaging Het
Scn8a A T 15: 100,881,865 (GRCm39) D644V probably damaging Het
Thbs3 T A 3: 89,125,401 (GRCm39) C204S probably damaging Het
Tlr3 A G 8: 45,851,565 (GRCm39) I444T probably damaging Het
Trpm8 A T 1: 88,282,191 (GRCm39) I696F possibly damaging Het
Ttn A T 2: 76,660,941 (GRCm39) V7422D possibly damaging Het
Ufl1 A G 4: 25,278,038 (GRCm39) V139A probably benign Het
Uggt2 A T 14: 119,308,238 (GRCm39) V381D probably benign Het
Vgll3 T A 16: 65,636,367 (GRCm39) Y173N probably damaging Het
Vmn1r9 A G 6: 57,048,158 (GRCm39) T78A probably benign Het
Vps13b T A 15: 35,472,114 (GRCm39) L806M probably damaging Het
Vps13d A C 4: 144,895,079 (GRCm39) H394Q probably benign Het
Wdr53 T A 16: 32,075,536 (GRCm39) V247D probably damaging Het
Wdr81 A T 11: 75,338,695 (GRCm39) L1488Q probably damaging Het
Zc3h6 A G 2: 128,809,732 (GRCm39) D3G possibly damaging Het
Zfp93 G T 7: 23,975,725 (GRCm39) C570F probably damaging Het
Zfp943 C T 17: 22,212,357 (GRCm39) T481I probably benign Het
Other mutations in Hyls1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00533:Hyls1 APN 9 35,473,220 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- ATCCAAATTCCAGTAGTTTTCCACC -3'
(R):5'- TGTCCGAGGGCAAATGCTTTC -3'

Sequencing Primer
(F):5'- CCCTCACAATTGCTGTATTTGAG -3'
(R):5'- GAGGGCAAATGCTTTCCCGAAC -3'
Posted On 2017-08-16