Mutagenetix > Incidental Mutation

Incidental Mutation 'R5781:Hyal1'

447739

Institutional Source

Beutler Lab

Gene Symbol

Hyal1

Ensembl Gene

ENSMUSG00000010051

Gene Name

hyaluronoglucosaminidase 1

Synonyms

Hyal-1

MMRRC Submission

043378-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R5781 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107454149-107458898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107454866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 59 (P59S)

Ref Sequence

ENSEMBL: ENSMUSP00000108006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010191] [ENSMUST00000010195] [ENSMUST00000040059] [ENSMUST00000093785] [ENSMUST00000112387] [ENSMUST00000122985] [ENSMUST00000123005] [ENSMUST00000144392] [ENSMUST00000127380] [ENSMUST00000195681] [ENSMUST00000130053] [ENSMUST00000148440] [ENSMUST00000149638] [ENSMUST00000195752] [ENSMUST00000139274] [ENSMUST00000139581]

AlphaFold

Q91ZJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000010191

SMART Domains

Protein: ENSMUSP00000010191
Gene: ENSMUSG00000010047

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Glyco_hydro_56	29	362	9.6e-140	PFAM
EGF	364	439	4.26e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000010195
AA Change: P59S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000010195
Gene: ENSMUSG00000010051
AA Change: P59S

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:Glyco_hydro_56	53	383	5.7e-134	PFAM
EGF	385	458	1.4e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000040059

SMART Domains

Protein: ENSMUSP00000042667
Gene: ENSMUSG00000036091

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	354	4.8e-122	PFAM
EGF	356	408	2.9e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093785

SMART Domains

Protein: ENSMUSP00000091300
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	4.95e-7	PROSPERO
internal_repeat_1	40	99	4.95e-7	PROSPERO
Pfam:Acetyltransf_1	144	217	2.1e-12	PFAM
Pfam:Acetyltransf_7	147	218	9.5e-9	PFAM
low complexity region	242	253	N/A	INTRINSIC
low complexity region	261	296	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112387
AA Change: P59S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108006
Gene: ENSMUSG00000010051
AA Change: P59S

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:Glyco_hydro_56	50	384	7e-153	PFAM
Blast:EGF	385	454	1e-42	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000122985

SMART Domains

Protein: ENSMUSP00000122807
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123005

SMART Domains

Protein: ENSMUSP00000122601
Gene: ENSMUSG00000010051

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	1	104	6.8e-37	PFAM
EGF	105	178	1.4e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000144392
AA Change: P59S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120599
Gene: ENSMUSG00000010051
AA Change: P59S

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:Glyco_hydro_56	50	330	1.8e-128	PFAM
Pfam:Glyco_hydro_56	325	354	2.6e-8	PFAM
EGF	355	428	1.4e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184695

Predicted Effect

probably benign
Transcript: ENSMUST00000127380

SMART Domains

Protein: ENSMUSP00000116378
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195681

SMART Domains

Protein: ENSMUSP00000141820
Gene: ENSMUSG00000010047

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	325	3.8e-118	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130053

SMART Domains

Protein: ENSMUSP00000114490
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148440

SMART Domains

Protein: ENSMUSP00000119499
Gene: ENSMUSG00000036091

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	21	355	2.6e-127	PFAM
EGF	356	408	2.9e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149638

SMART Domains

Protein: ENSMUSP00000139004
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	45	105	7.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195752

SMART Domains

Protein: ENSMUSP00000141280
Gene: ENSMUSG00000010047

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	363	1.1e-144	PFAM
EGF	364	439	4.26e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139274

SMART Domains

Protein: ENSMUSP00000138933
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	45	105	7.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139581

SMART Domains

Protein: ENSMUSP00000122321
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display a progressive osteoarthritis associated with bony outgrowths, early loss of articular cartilage proteoglycans and accumulation of hyaluronan (HA) in the cartilage of knee joints, but show no signs of non-skeletal tissue GAG accumulation or increased serum HA levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 109,992,813 (GRCm39)	L1617P	probably damaging	Het
Abhd16b	T	C	2: 181,135,947 (GRCm39)	V283A	probably damaging	Het
Adamts19	G	T	18: 58,971,040 (GRCm39)	R208L	possibly damaging	Het
Adamts4	T	C	1: 171,078,584 (GRCm39)	I56T	possibly damaging	Het
Alpk1	A	C	3: 127,473,684 (GRCm39)	V773G	possibly damaging	Het
Arhgap10	G	T	8: 78,177,336 (GRCm39)	Q100K	possibly damaging	Het
Arhgef18	T	A	8: 3,489,439 (GRCm39)		probably null	Het
Asb15	A	T	6: 24,564,377 (GRCm39)	H277L	probably benign	Het
Ascc3	T	A	10: 50,514,074 (GRCm39)	V291E	probably damaging	Het
Cnot6l	A	C	5: 96,234,024 (GRCm39)	V329G	probably benign	Het
Col14a1	A	G	15: 55,286,908 (GRCm39)	T910A	unknown	Het
Dhdds	G	A	4: 133,724,141 (GRCm39)	L58F	probably damaging	Het
Dsc2	A	G	18: 20,165,567 (GRCm39)	I846T	probably benign	Het
Evc	A	T	5: 37,483,914 (GRCm39)	S129T	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fyco1	A	G	9: 123,623,898 (GRCm39)	V1377A	probably damaging	Het
Haus6	C	T	4: 86,519,500 (GRCm39)	A203T	possibly damaging	Het
Hkdc1	T	G	10: 62,253,712 (GRCm39)	D23A	probably damaging	Het
Hpdl	C	T	4: 116,677,775 (GRCm39)	V229M	probably damaging	Het
Hspa12a	T	C	19: 58,810,518 (GRCm39)	Y175C	probably damaging	Het
Itpr1	G	A	6: 108,487,699 (GRCm39)	C2374Y	probably benign	Het
Kmt2a	A	T	9: 44,759,139 (GRCm39)	Y114*	probably null	Het
Mc2r	A	T	18: 68,540,466 (GRCm39)	Y276N	possibly damaging	Het
Mc2r	A	T	18: 68,540,468 (GRCm39)	I275K	probably damaging	Het
Mlycd	A	G	8: 120,137,019 (GRCm39)	Y413C	probably damaging	Het
Mocs2	T	G	13: 114,957,455 (GRCm39)	S86R	probably damaging	Het
Msx2	C	A	13: 53,626,644 (GRCm39)	A35S	probably benign	Het
Or6c201	A	T	10: 128,969,016 (GRCm39)	L207H	probably damaging	Het
Pla2g4f	C	A	2: 120,135,504 (GRCm39)	S390I	probably damaging	Het
Plcl1	C	T	1: 55,735,148 (GRCm39)	A163V	possibly damaging	Het
Pnn	T	C	12: 59,118,605 (GRCm39)	V396A	probably damaging	Het
Rbmxl1	G	A	8: 79,232,270 (GRCm39)		probably benign	Het
Recql	G	T	6: 142,311,344 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,699,089 (GRCm39)	N1195K	probably benign	Het
Rfwd3	G	A	8: 111,999,716 (GRCm39)	T754M	probably benign	Het
Sctr	A	G	1: 119,959,350 (GRCm39)	T98A	probably damaging	Het
Sdk1	T	A	5: 141,921,803 (GRCm39)	D6E	probably benign	Het
Smpdl3a	T	A	10: 57,684,034 (GRCm39)	I264K	possibly damaging	Het
Spag6	A	G	2: 18,736,804 (GRCm39)	I154V	probably benign	Het
Tbc1d12	A	C	19: 38,871,127 (GRCm39)	T297P	probably benign	Het
Tgfb1	A	G	7: 25,396,385 (GRCm39)	D226G	probably benign	Het
Ubr3	G	T	2: 69,846,588 (GRCm39)		probably null	Het
Ubr4	T	C	4: 139,195,407 (GRCm39)	Y1210H	probably damaging	Het
Ubr5	T	C	15: 38,006,785 (GRCm39)	T1157A	probably benign	Het
Vmn2r120	T	G	17: 57,831,938 (GRCm39)	T284P	probably benign	Het
Vps13b	G	T	15: 35,794,181 (GRCm39)	A2286S	probably damaging	Het
Zcchc14	A	T	8: 122,331,332 (GRCm39)		probably benign	Het
Zfr2	T	A	10: 81,079,547 (GRCm39)	V362E	probably benign	Het

Other mutations in Hyal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01768:Hyal1	APN	9	107,456,338 (GRCm39)	missense	probably damaging	1.00
IGL02265:Hyal1	APN	9	107,455,107 (GRCm39)	missense	probably benign	0.03
PIT4377001:Hyal1	UTSW	9	107,456,468 (GRCm39)	missense	probably damaging	1.00
R0043:Hyal1	UTSW	9	107,456,519 (GRCm39)	missense	probably benign	0.15
R0727:Hyal1	UTSW	9	107,455,601 (GRCm39)	missense	possibly damaging	0.71
R1497:Hyal1	UTSW	9	107,455,194 (GRCm39)	splice site	probably null
R1499:Hyal1	UTSW	9	107,455,091 (GRCm39)	missense	probably damaging	1.00
R3903:Hyal1	UTSW	9	107,456,171 (GRCm39)	critical splice donor site	probably null
R4662:Hyal1	UTSW	9	107,456,420 (GRCm39)	missense	probably damaging	1.00
R4977:Hyal1	UTSW	9	107,456,153 (GRCm39)	missense	probably benign	0.19
R5122:Hyal1	UTSW	9	107,455,268 (GRCm39)	missense	probably benign	0.00
R6142:Hyal1	UTSW	9	107,456,573 (GRCm39)	missense	probably benign	0.00
R6651:Hyal1	UTSW	9	107,456,570 (GRCm39)	missense	probably damaging	1.00
R6945:Hyal1	UTSW	9	107,456,369 (GRCm39)	missense	probably damaging	0.97
R7335:Hyal1	UTSW	9	107,456,359 (GRCm39)	missense	probably benign	0.27
R7651:Hyal1	UTSW	9	107,455,569 (GRCm39)	missense	probably damaging	1.00
R7810:Hyal1	UTSW	9	107,455,628 (GRCm39)	missense	probably damaging	1.00
R7941:Hyal1	UTSW	9	107,455,299 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAAACTGTGATCAAGGGACTG -3'
(R):5'- GACCACCAAATACGGGTTCC -3'

Sequencing Primer
(F):5'- GACCCAGCTACTTTAAGTAGG -3'
(R):5'- CCCTGTGGGTGTATAGTAGGG -3'

Posted On

2016-12-15