Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:Hyls1'

180657

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 #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

35472117-35481365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35473363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 18 (I18V)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: I18V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110762
Gene: ENSMUSG00000050555
AA Change: I18V

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 90,009,282 (GRCm39)	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,244,579 (GRCm39)	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,423,287 (GRCm39)	L926F	probably damaging	Het
Asgr2	A	T	11: 69,988,877 (GRCm39)		probably null	Het
C3ar1	T	A	6: 122,828,194 (GRCm39)	T8S	probably benign	Het
Caskin2	T	C	11: 115,695,543 (GRCm39)	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,904,856 (GRCm39)	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,212,569 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,361,616 (GRCm39)	M231R	probably damaging	Het
Clcn7	A	C	17: 25,374,350 (GRCm39)	N464H	probably benign	Het
Col20a1	T	A	2: 180,651,161 (GRCm39)		probably benign	Het
Col7a1	T	A	9: 108,797,067 (GRCm39)		probably benign	Het
Cops7a	T	C	6: 124,939,379 (GRCm39)	D90G	probably benign	Het
Ctcf	T	C	8: 106,396,864 (GRCm39)	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dcaf1	T	A	9: 106,736,800 (GRCm39)	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,800,760 (GRCm39)	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,768,277 (GRCm39)	E1009*	probably null	Het
Epg5	C	A	18: 78,028,316 (GRCm39)	R1286S	probably damaging	Het
Etv1	T	C	12: 38,885,060 (GRCm39)		probably benign	Het
Exosc7	T	C	9: 122,964,956 (GRCm39)		probably benign	Het
Fam227a	T	C	15: 79,496,747 (GRCm39)	D610G	possibly damaging	Het
Fat4	T	A	3: 39,033,923 (GRCm39)	M2525K	probably benign	Het
Gimap5	G	T	6: 48,729,999 (GRCm39)	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596 (GRCm39)	S79T	probably damaging	Het
Gpnmb	C	T	6: 49,024,384 (GRCm39)	T233I	probably null	Het
Hdac1-ps	T	C	17: 78,799,558 (GRCm39)	V183A	probably damaging	Het
Ighv1-63	C	T	12: 115,459,274 (GRCm39)	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,665,927 (GRCm39)	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,940,323 (GRCm39)	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,631,591 (GRCm39)	V264D	probably damaging	Het
Jph1	A	T	1: 17,167,608 (GRCm39)	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,265,695 (GRCm39)	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,751,826 (GRCm39)	F144S	probably damaging	Het
Kcnq1	G	A	7: 142,738,241 (GRCm39)	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,704,355 (GRCm39)	V813E	probably damaging	Het
Kntc1	T	A	5: 123,949,439 (GRCm39)	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lgr5	T	C	10: 115,288,319 (GRCm39)	N703S	probably damaging	Het
Map4k1	A	T	7: 28,688,032 (GRCm39)	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,520,940 (GRCm39)	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,868,708 (GRCm39)	G350C	probably damaging	Het
Myh2	A	T	11: 67,082,599 (GRCm39)	T1390S	possibly damaging	Het
Npat	T	A	9: 53,469,526 (GRCm39)		probably benign	Het
Nr2e1	T	A	10: 42,443,969 (GRCm39)	D251V	possibly damaging	Het
Or1x2	A	G	11: 50,918,162 (GRCm39)	N111S	probably benign	Het
Or4d10	C	T	19: 12,051,421 (GRCm39)	V192I	probably benign	Het
Or5b107	C	A	19: 13,142,767 (GRCm39)	P130T	probably damaging	Het
Plekha5	T	A	6: 140,470,621 (GRCm39)	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,529,256 (GRCm39)	V368A	probably damaging	Het
Psmb8	T	A	17: 34,419,168 (GRCm39)	L154Q	probably damaging	Het
Rab40c	A	C	17: 26,103,644 (GRCm39)	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,437,689 (GRCm39)	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,078,122 (GRCm39)	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,082,368 (GRCm39)	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,678,530 (GRCm39)	H111R	probably damaging	Het
Sspo	C	A	6: 48,452,821 (GRCm39)	P2843H	probably damaging	Het
Stk39	T	C	2: 68,144,908 (GRCm39)	T389A	probably benign	Het
Synrg	T	A	11: 83,910,531 (GRCm39)	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,908,076 (GRCm39)	S229N	probably benign	Het
Thsd1	G	A	8: 22,742,247 (GRCm39)	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,344,297 (GRCm39)	D1387E	probably benign	Het
Tmem145	G	T	7: 25,010,816 (GRCm39)	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,090,718 (GRCm39)	V187A	probably damaging	Het
Unc13c	T	A	9: 73,600,524 (GRCm39)	M1407L	probably benign	Het
Vps39	C	T	2: 120,153,609 (GRCm39)	G655D	probably benign	Het
Wwtr1	T	C	3: 57,482,241 (GRCm39)		probably benign	Het
Xrn1	T	C	9: 95,930,397 (GRCm39)	S1535P	probably damaging	Het

Other mutations in Hyls1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Hyls1	APN	9	35,473,220 (GRCm39)	nonsense	probably null
IGL00964:Hyls1	APN	9	35,473,408 (GRCm39)	intron	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

2014-05-07