Mutagenetix > Incidental Mutation

Incidental Mutation 'R4819:Hyal6'

370048

Institutional Source

Beutler Lab

Gene Symbol

Hyal6

Ensembl Gene

ENSMUSG00000029679

Gene Name

hyaluronoglucosaminidase 6

Synonyms

4932701A20Rik, Hyal-ps1

MMRRC Submission

042000-MU

Accession Numbers

Essential gene?

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

Stock #

R4819 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24733245-24745452 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 24734966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 299 (Y299*)

Ref Sequence

ENSEMBL: ENSMUSP00000031690 (fasta)

Gene Model

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

AlphaFold

Q9D4E9

Predicted Effect

probably null
Transcript: ENSMUST00000031690
AA Change: Y299*

SMART Domains

Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: Y299*

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

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,290,421	N761K	possibly damaging	Het
Adgrf3	T	A	5: 30,198,444	L444F	possibly damaging	Het
Akap8	G	A	17: 32,312,305	R378W	probably damaging	Het
Amotl2	C	T	9: 102,730,071	R693W	probably damaging	Het
As3mt	G	T	19: 46,707,529		probably benign	Het
Atp6v1e2	A	G	17: 86,944,538	V144A	probably benign	Het
Bfar	C	T	16: 13,687,467	Q114*	probably null	Het
Casd1	C	T	6: 4,621,225	A261V	probably damaging	Het
Ccdc36	A	G	9: 108,406,678	V189A	probably benign	Het
Cd177	A	T	7: 24,752,271	I440K	probably damaging	Het
Cfap54	G	T	10: 92,836,477	Y2910*	probably null	Het
Csl	A	G	10: 99,758,082	F374L	possibly damaging	Het
Dctn1	G	A	6: 83,190,519	R275H	probably damaging	Het
Derl3	A	G	10: 75,893,879		probably null	Het
Dst	A	G	1: 33,968,835	I117V	probably benign	Het
Edc3	T	A	9: 57,748,397	C477S	possibly damaging	Het
Efs	T	C	14: 54,917,153	E450G	probably damaging	Het
Fcrla	T	A	1: 170,920,939	I212F	probably damaging	Het
Fsip2	A	G	2: 82,988,442	I4840V	probably benign	Het
Gm14025	G	T	2: 129,040,801	N98K	probably damaging	Het
Gpam	T	A	19: 55,078,341	I581F	probably benign	Het
Greb1l	A	G	18: 10,458,358	D45G	probably damaging	Het
Heca	A	G	10: 17,908,072	Y478H	probably damaging	Het
Hspa9	C	T	18: 34,939,388	M561I	probably damaging	Het
Ik	T	A	18: 36,753,257		probably null	Het
Khsrp	A	G	17: 57,023,360	S582P	possibly damaging	Het
Kif18a	A	G	2: 109,292,126	D182G	probably damaging	Het
Krt2	T	C	15: 101,811,544	T564A	unknown	Het
Lig4	A	G	8: 9,971,885	S632P	probably benign	Het
Med1	C	T	11: 98,155,432		probably benign	Het
Mgat3	T	A	15: 80,212,349	I459N	probably damaging	Het
Mkln1	A	T	6: 31,474,486	Q454L	probably benign	Het
Mn1	A	G	5: 111,419,937	E591G	possibly damaging	Het
Myo5c	T	A	9: 75,292,202	L1364Q	probably damaging	Het
Oas1d	T	C	5: 120,915,717	V80A	probably damaging	Het
Obscn	A	T	11: 59,038,848	D5180E	probably damaging	Het
Pax6	G	A	2: 105,692,277		probably null	Het
Pcdh15	A	C	10: 74,324,389	N446T	probably damaging	Het
Pcnx2	A	T	8: 125,855,230	F922L	probably benign	Het
Ptpn4	G	T	1: 119,659,850	T921K	probably benign	Het
Selenov	A	G	7: 28,290,321		probably null	Het
Tmem100	A	G	11: 90,035,445	T33A	probably benign	Het
Tmem59	C	T	4: 107,187,681	Q66*	probably null	Het
Trav21-dv12	T	A	14: 53,876,613	Y63*	probably null	Het
Trim66	G	T	7: 109,457,586	H1121Q	probably damaging	Het
Trim80	A	G	11: 115,447,943	Y533C	probably damaging	Het
Ttc17	G	A	2: 94,364,610	P520L	probably damaging	Het
Ttn	A	T	2: 76,791,749	V15483E	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfhx4	C	A	3: 5,403,914	T3069K	probably benign	Het
Zfp281	A	G	1: 136,625,710	H142R	probably benign	Het
Zfp462	G	T	4: 55,060,044	R1190L	probably damaging	Het
Zfp935	T	A	13: 62,454,417	H323L	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
IGL03351:Hyal6	APN	6	24743429	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCAACTCATGTGGCTATGGG -3'
(R):5'- TCTAGGTAGCATGTCTAATCAGTTG -3'

Sequencing Primer
(F):5'- GTTCATTTCCGAGTGAGAGA -3'
(R):5'- AGCATGTCTAATCAGTTGTTTGG -3'

Posted On

2016-02-04