Incidental Mutation 'R3909:Hyls1'
ID 309308
Institutional Source Beutler Lab
Gene Symbol Hyls1
Ensembl Gene ENSMUSG00000050555
Gene Name HYLS1, centriolar and ciliogenesis associated
Synonyms hydrolethalus syndrome 1, 3010015K02Rik
MMRRC Submission 040814-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.333) question?
Stock # R3909 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 35472117-35481365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35472705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 237 (D237G)
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 damaging
Transcript: ENSMUST00000115110
AA Change: D237G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110762
Gene: ENSMUSG00000050555
AA Change: D237G

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
Meta Mutation Damage Score 0.1615 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (35/35)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,625,125 (GRCm39) F501Y probably damaging Het
Alk T C 17: 72,204,906 (GRCm39) T1089A probably benign Het
Ankrd12 G T 17: 66,291,000 (GRCm39) P1478T probably benign Het
Arhgap39 A G 15: 76,636,088 (GRCm39) V49A probably benign Het
Arid4b T C 13: 14,307,069 (GRCm39) L108P probably damaging Het
Atrn T A 2: 130,836,127 (GRCm39) C1136S probably damaging Het
Cacna1s T A 1: 136,012,007 (GRCm39) M483K probably damaging Het
Cacng1 C A 11: 107,607,118 (GRCm39) V34L probably benign Het
Casp8 T C 1: 58,883,970 (GRCm39) S446P probably damaging Het
Cngb3 G A 4: 19,461,679 (GRCm39) C520Y probably damaging Het
Crim1 C T 17: 78,588,668 (GRCm39) probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fbxl17 G A 17: 63,806,802 (GRCm39) P71S possibly damaging Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Gbp3 C T 3: 142,272,099 (GRCm39) probably benign Het
Golga4 A G 9: 118,387,804 (GRCm39) D1642G possibly damaging Het
Hspa1a C T 17: 35,190,703 (GRCm39) V67M probably damaging Het
Kmt2e A G 5: 23,706,624 (GRCm39) N1396D probably benign Het
Lasp1 G A 11: 97,690,653 (GRCm39) V12M probably damaging Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Muc5b C T 7: 141,403,235 (GRCm39) T732M unknown Het
Mxd1 G T 6: 86,627,942 (GRCm39) Q199K probably benign Het
Or14a258 T A 7: 86,035,182 (GRCm39) T229S probably benign Het
Or4a78 T C 2: 89,497,357 (GRCm39) E291G probably damaging Het
Or5w18 T A 2: 87,633,031 (GRCm39) F95L probably benign Het
Or5w20 T A 2: 87,727,293 (GRCm39) probably null Het
Prps1l1 A T 12: 35,035,797 (GRCm39) H304L possibly damaging Het
Psmd2 A G 16: 20,474,392 (GRCm39) D316G probably benign Het
Rlf G A 4: 121,006,229 (GRCm39) T917I probably benign Het
Ryr3 T C 2: 112,466,953 (GRCm39) D4704G probably damaging Het
Scn1a T A 2: 66,104,332 (GRCm39) I1643F probably damaging Het
Vmn2r38 T C 7: 9,078,553 (GRCm39) K610E probably damaging Het
Zfc3h1 T C 10: 115,255,806 (GRCm39) F1486L 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
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
Predicted Primers PCR Primer
(F):5'- AGGGAAGCTTCTTGGGCATG -3'
(R):5'- GGAATTTCACAAGAAGATCAGCTC -3'

Sequencing Primer
(F):5'- TTGGGCATGACACCATTTGCAAG -3'
(R):5'- TCACAAGAAGATCAGCTCATTTGC -3'
Posted On 2015-04-17