Mutagenetix > Incidental Mutations

Incidental Mutation 'R6037:Hyls1'

486634

Institutional Source

Beutler Lab

Gene Symbol

Hyls1

Ensembl Gene

ENSMUSG00000050555

Gene Name

HYLS1, centriolar and ciliogenesis associated

Synonyms

3010015K02Rik

MMRRC Submission

043258-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.403) question?

Stock #

R6037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35560820-35570398 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35561184 bp

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]

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: S312F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000110762
Gene: ENSMUSG00000050555
AA Change: S312F

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abi2	C	A	1: 60,464,579	P212T	probably damaging	Het
Ano4	A	G	10: 89,317,246	F68S	possibly damaging	Het
Art5	C	A	7: 102,098,384	A63S	probably benign	Het
Asgr1	T	A	11: 70,056,421	S96R	probably benign	Het
Bdp1	A	T	13: 100,027,449	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 136,070,967	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,513,539	K357E	probably damaging	Het
Cfap52	C	T	11: 67,946,300	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,857,742	F249S	probably damaging	Het
Ece2	A	G	16: 20,630,362	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,921,760	T425I	probably damaging	Het
Eprs	A	G	1: 185,396,109	E562G	probably damaging	Het
Fbn2	T	C	18: 58,044,223	T2001A	probably benign	Het
Flt4	G	A	11: 49,637,040	R940H	probably damaging	Het
Fry	T	A	5: 150,428,179	M1716K	probably benign	Het
Gm10684	T	A	9: 45,107,741		probably benign	Het
Gm281	T	C	14: 13,864,282	N348S	probably damaging	Het
Hivep1	G	A	13: 42,157,940	V1219I	probably damaging	Het
Il23r	C	T	6: 67,478,954	V177M	probably damaging	Het
Klf12	T	C	14: 99,900,214	S299G	probably benign	Het
Lama5	G	A	2: 180,207,013	R265C	probably damaging	Het
Lifr	A	G	15: 7,186,943	T800A	probably damaging	Het
Megf8	T	C	7: 25,364,406	L2729P	probably damaging	Het
Mki67	A	C	7: 135,696,803	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,484,004	K400E	probably damaging	Het
Nomo1	T	A	7: 46,062,999	I656N	possibly damaging	Het
Oas3	T	C	5: 120,769,319	T418A	probably benign	Het
Olfr1034	T	C	2: 86,046,584	M34T	probably benign	Het
Olfr1066	T	A	2: 86,455,789	I161L	probably benign	Het
Olfr147	T	A	9: 38,403,305	C144S	probably benign	Het
Olfr301	C	T	7: 86,413,270	L303F	probably benign	Het
Olfr936	A	G	9: 39,047,107	V104A	probably damaging	Het
Olr1	A	G	6: 129,493,541	L221P	probably damaging	Het
Pih1d1	C	T	7: 45,156,314	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,819,766	S656R	probably damaging	Het
Polr3f	A	G	2: 144,536,023	D171G	probably damaging	Het
Rasal1	T	C	5: 120,649,501	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Sptbn4	T	A	7: 27,364,170	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,612,228	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,417,292	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 64,081,729	Q30K	probably benign	Het
Wipf2	C	T	11: 98,896,179	P345S	probably benign	Het
Zeb2	G	T	2: 44,988,640	S1170*	probably null	Het
Zfp947	A	G	17: 22,147,434	Y38H	probably damaging	Het

Other mutations in Hyls1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Hyls1	APN	9	35561924	nonsense	probably null
IGL00964:Hyls1	APN	9	35562112	intron	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ATCCAAATTCCAGTAGTTTTCCACC -3'
(R):5'- GTCCGAGGGCAAATGCTTTC -3'

Sequencing Primer
(F):5'- CCCTCACAATTGCTGTATTTGAG -3'
(R):5'- GAGGGCAAATGCTTTCCCGAAC -3'

Posted On

2017-08-16