Mutagenetix > Incidental Mutation

Incidental Mutation 'R6271:Hyls1'

507338

Institutional Source

Beutler Lab

Gene Symbol

Hyls1

Ensembl Gene

ENSMUSG00000050555

Gene Name

HYLS1, centriolar and ciliogenesis associated

Synonyms

hydrolethalus syndrome 1, 3010015K02Rik

MMRRC Submission

044379-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.333) question?

Stock #

R6271 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

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

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: 98.1%
20x: 94.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	G	T	4: 132,792,035 (GRCm39)	C1092F	possibly damaging	Het
Aplf	T	C	6: 87,623,230 (GRCm39)	E304G	possibly damaging	Het
Atp12a	A	G	14: 56,615,879 (GRCm39)	D547G	probably benign	Het
B3gat2	T	C	1: 23,854,342 (GRCm39)	L212P	probably damaging	Het
Babam2	G	T	5: 32,158,706 (GRCm39)	A219S	probably damaging	Het
Ccdc18	A	C	5: 108,322,753 (GRCm39)	S618R	possibly damaging	Het
Ces2c	G	A	8: 105,578,748 (GRCm39)	G342D	probably damaging	Het
Cfap57	A	C	4: 118,452,956 (GRCm39)	D582E	probably benign	Het
Cisd2	T	C	3: 135,114,627 (GRCm39)	N115D	possibly damaging	Het
Cyp17a1	A	G	19: 46,661,159 (GRCm39)	F42L	probably benign	Het
Fam234a	T	C	17: 26,437,211 (GRCm39)	D156G	probably benign	Het
Fer1l6	T	A	15: 58,513,767 (GRCm39)	I1554K	probably benign	Het
Fv1	A	G	4: 147,954,474 (GRCm39)	T347A	possibly damaging	Het
Gm5134	T	A	10: 75,831,643 (GRCm39)	C361S	probably benign	Het
Grin3a	T	C	4: 49,792,516 (GRCm39)	I406V	probably benign	Het
Ifna13	A	C	4: 88,562,082 (GRCm39)	L181V	possibly damaging	Het
Irx4	A	G	13: 73,414,713 (GRCm39)		probably null	Het
Kcna3	T	A	3: 106,944,922 (GRCm39)	M395K	probably damaging	Het
Kcnma1	A	T	14: 23,559,957 (GRCm39)	V347D	probably damaging	Het
Kng2	A	T	16: 22,822,698 (GRCm39)	V218E	probably benign	Het
Krt36	G	A	11: 99,995,298 (GRCm39)	Q167*	probably null	Het
Lama2	T	C	10: 26,899,325 (GRCm39)	D2457G	possibly damaging	Het
Ldah	G	A	12: 8,318,599 (GRCm39)		probably null	Het
Lhfpl3	G	T	5: 22,951,242 (GRCm39)	A18S	probably benign	Het
Lrrk1	A	G	7: 65,956,851 (GRCm39)		probably null	Het
Ltv1	T	C	10: 13,055,445 (GRCm39)	Y352C	probably damaging	Het
Lyst	G	T	13: 13,833,339 (GRCm39)	M1720I	probably benign	Het
Mkx	A	T	18: 6,937,059 (GRCm39)		probably null	Het
Myo18a	A	G	11: 77,711,635 (GRCm39)	H626R	probably damaging	Het
Nop9	A	C	14: 55,991,198 (GRCm39)	Q618H	probably damaging	Het
Or12k5	T	C	2: 36,895,554 (GRCm39)	Q24R	probably damaging	Het
Or4c12b	T	C	2: 89,646,906 (GRCm39)	S73P	probably damaging	Het
Or7g32	A	G	9: 19,389,337 (GRCm39)	S67P	probably damaging	Het
Or8c9	T	C	9: 38,241,578 (GRCm39)	S232P	probably benign	Het
Otog	C	A	7: 45,901,464 (GRCm39)	Q388K	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Oxct2b	T	G	4: 123,011,508 (GRCm39)	V476G	probably damaging	Het
Parp10	T	C	15: 76,126,202 (GRCm39)	T329A	probably benign	Het
Pcdhga5	T	C	18: 37,829,735 (GRCm39)	S728P	probably benign	Het
Piezo1	G	T	8: 123,221,671 (GRCm39)	H574Q	probably damaging	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Preb	C	A	5: 31,115,395 (GRCm39)	V255F	probably damaging	Het
Prmt9	A	G	8: 78,304,092 (GRCm39)	N725S	probably damaging	Het
Ric1	A	T	19: 29,544,765 (GRCm39)		probably null	Het
Semp2l1	T	A	1: 32,584,572 (GRCm39)	D446V	probably damaging	Het
Serinc3	G	C	2: 163,472,896 (GRCm39)	L245V	probably benign	Het
Sgce	T	C	6: 4,730,015 (GRCm39)	K70E	possibly damaging	Het
Simc1	T	G	13: 54,687,537 (GRCm39)	V102G	probably damaging	Het
Slc66a3	T	C	12: 17,047,704 (GRCm39)	D76G	probably damaging	Het
Smyd2	A	G	1: 189,616,049 (GRCm39)	Y362H	probably damaging	Het
Sptbn1	G	T	11: 30,050,660 (GRCm39)	H2310N	probably benign	Het
Syne1	T	C	10: 5,184,652 (GRCm39)	Y4077C	probably damaging	Het
Syne2	C	A	12: 75,937,155 (GRCm39)	A251E	probably damaging	Het
Taok1	A	T	11: 77,464,609 (GRCm39)	L159Q	probably damaging	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Timeless	T	C	10: 128,086,593 (GRCm39)	L1043P	probably damaging	Het
Tmprss3	T	C	17: 31,405,536 (GRCm39)	E352G	probably damaging	Het
Trav6-4	A	T	14: 53,692,039 (GRCm39)	T46S	probably benign	Het
Ubiad1	A	T	4: 148,521,083 (GRCm39)	Y180*	probably null	Het
Usp47	A	G	7: 111,686,263 (GRCm39)	E627G	probably damaging	Het
Vmn2r124	A	G	17: 18,283,145 (GRCm39)	T280A	probably benign	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
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
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
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

2018-03-15