Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03351:Hyal6'

419699

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hyal6

Ensembl Gene

ENSMUSG00000029679

Gene Name

hyaluronoglucosaminidase 6

Synonyms

4932701A20Rik, Hyal-ps1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

24733245-24745452 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24743429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 375 (G375R)

Ref Sequence

ENSEMBL: ENSMUSP00000031690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031690] [ENSMUST00000031691]

AlphaFold

Q9D4E9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031690
AA Change: G375R

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

SMART Domains

Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: G375R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Glyco_hydro_56	30	363	4.8e-136	PFAM
EGF	365	438	6.02e0	SMART
transmembrane domain	457	479	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000031691

SMART Domains

Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Glyco_hydro_56	41	373	3e-137	PFAM
EGF	375	447	2.81e0	SMART
low complexity region	453	473	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550L24Rik	G	A	X: 58,918,937	V19I	probably benign	Het
4932414N04Rik	T	A	2: 68,731,083	D251E	probably benign	Het
4932415D10Rik	T	C	10: 82,283,567		probably benign	Het
5730460C07Rik	C	T	3: 153,789,958		noncoding transcript	Het
Coch	G	A	12: 51,603,206	R326Q	probably benign	Het
Cpa3	A	G	3: 20,215,962	V366A	probably benign	Het
Csf1r	C	T	18: 61,117,108	Q382*	probably null	Het
Csta1	C	A	16: 36,131,041	G4*	probably null	Het
Cts7	T	C	13: 61,356,603	R49G	probably damaging	Het
Dlg5	A	G	14: 24,170,454	V575A	probably benign	Het
Ero1l	G	T	14: 45,294,533	N227K	probably benign	Het
Faap24	G	T	7: 35,395,309	C58*	probably null	Het
Gm13089	G	A	4: 143,697,088	T377I	possibly damaging	Het
Hfm1	G	A	5: 106,911,575	Q194*	probably null	Het
Hs3st5	T	A	10: 36,833,323	Y285N	probably damaging	Het
Itgb5	T	C	16: 33,910,552	S93P	probably benign	Het
Kcnj6	A	T	16: 94,832,583	M205K	probably damaging	Het
Kdm6a	C	T	X: 18,247,104	Q92*	probably null	Het
Klhl38	A	G	15: 58,323,330	M1T	probably null	Het
Krtap7-1	T	C	16: 89,507,996		probably benign	Het
L1cam	T	C	X: 73,863,028	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,016	N45S	probably benign	Het
Mmp2	A	G	8: 92,839,342	I424V	probably benign	Het
Myh8	A	G	11: 67,303,913	Q1650R	possibly damaging	Het
Naalad2	T	A	9: 18,364,187	E313V	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652	M368I	probably benign	Het
Nupl1	T	C	14: 60,228,775	T445A	probably benign	Het
Olfr294	A	G	7: 86,615,677	Y323H	possibly damaging	Het
Olfr582	A	G	7: 103,042,130	D212G	probably damaging	Het
Pkp3	A	G	7: 141,082,693	T73A	probably benign	Het
Pole	A	G	5: 110,301,998		probably benign	Het
Ppp2r3a	C	T	9: 101,211,192	G644D	probably benign	Het
Ptprb	T	C	10: 116,339,582	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,437,943	K264N	probably damaging	Het
Rasal2	T	C	1: 157,192,741		probably benign	Het
Serpina6	A	T	12: 103,646,913	I376N	probably damaging	Het
Setx	T	G	2: 29,161,799	I2062M	probably benign	Het
Slc9c1	A	G	16: 45,543,168	D99G	probably benign	Het
Taok1	A	G	11: 77,560,328	Y309H	probably damaging	Het
Trappc10	T	C	10: 78,188,761	D1178G	probably damaging	Het
Trav5-1	G	A	14: 52,622,845	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,314,837	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,307,750	S152C	probably damaging	Het
Washc5	C	A	15: 59,363,350		probably benign	Het
Zfp369	T	G	13: 65,296,153	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,513,347	Y234C	probably damaging	Het

Other mutations in Hyal6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Hyal6	APN	6	24734179	missense	probably damaging	1.00
IGL02269:Hyal6	APN	6	24740859	missense	probably damaging	0.97
IGL02729:Hyal6	APN	6	24734695	missense	probably damaging	1.00
IGL02793:Hyal6	APN	6	24734379	nonsense	probably null
IGL02943:Hyal6	APN	6	24743439	missense	probably damaging	0.99
R0481:Hyal6	UTSW	6	24743418	missense	probably damaging	1.00
R0517:Hyal6	UTSW	6	24734853	missense	probably benign
R0853:Hyal6	UTSW	6	24734073	missense	probably benign
R1182:Hyal6	UTSW	6	24743417	missense	probably damaging	1.00
R1401:Hyal6	UTSW	6	24743435	missense	probably damaging	1.00
R1780:Hyal6	UTSW	6	24734032	splice site	probably benign
R1858:Hyal6	UTSW	6	24740858	missense	probably benign	0.01
R2011:Hyal6	UTSW	6	24734724	missense	possibly damaging	0.69
R3441:Hyal6	UTSW	6	24734593	missense	probably benign
R4819:Hyal6	UTSW	6	24734966	nonsense	probably null
R5357:Hyal6	UTSW	6	24734518	missense	probably benign	0.05
R5648:Hyal6	UTSW	6	24734236	missense	possibly damaging	0.61
R5717:Hyal6	UTSW	6	24743691	missense	probably benign	0.15
R5884:Hyal6	UTSW	6	24743369	missense	probably damaging	1.00
R6657:Hyal6	UTSW	6	24734758	missense	possibly damaging	0.61
R6826:Hyal6	UTSW	6	24734372	missense	probably damaging	1.00
R7178:Hyal6	UTSW	6	24734835	missense	probably benign	0.28
R7531:Hyal6	UTSW	6	24740787	missense	possibly damaging	0.46
R7630:Hyal6	UTSW	6	24734584	missense	probably damaging	1.00
R7787:Hyal6	UTSW	6	24743736	missense	probably damaging	0.99
R7851:Hyal6	UTSW	6	24734498	missense	probably benign	0.05
R8132:Hyal6	UTSW	6	24740828	missense	possibly damaging	0.80
R8200:Hyal6	UTSW	6	24734566	missense	probably benign	0.01
R8294:Hyal6	UTSW	6	24734379	missense	possibly damaging	0.53
R8300:Hyal6	UTSW	6	24734088	missense	probably benign
R8509:Hyal6	UTSW	6	24734606	missense	probably damaging	1.00
R8705:Hyal6	UTSW	6	24734674	missense	probably benign	0.01
R8917:Hyal6	UTSW	6	24734104	missense	possibly damaging	0.96
R9133:Hyal6	UTSW	6	24734586	missense	possibly damaging	0.61
R9149:Hyal6	UTSW	6	24734152	missense	probably benign	0.02
R9325:Hyal6	UTSW	6	24743456	missense	probably damaging	1.00
R9515:Hyal6	UTSW	6	24734930	nonsense	probably null
X0019:Hyal6	UTSW	6	24734667	missense	probably damaging	1.00

Posted On

2016-08-02