Mutagenetix > Incidental Mutations

Incidental Mutation 'R0946:Hyal4'

82095

Institutional Source

Beutler Lab

Gene Symbol

Hyal4

Ensembl Gene

ENSMUSG00000029680

Gene Name

hyaluronoglucosaminidase 4

Synonyms

MMRRC Submission

039085-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24748329-24767662 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 24755913 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 43 (Y43*)

Ref Sequence

ENSEMBL: ENSMUSP00000031691 (fasta)

Gene Model

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

AlphaFold

Q05A56

Predicted Effect

probably null
Transcript: ENSMUST00000031691
AA Change: Y43*

SMART Domains

Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680
AA Change: Y43*

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

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is similar in structure to hyaluronidases. 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. However, this protein has not yet been shown to have hyaluronidase activity. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	T	6: 96,165,696	N122K	possibly damaging	Het
9230112D13Rik	A	G	14: 34,512,142	M64T	unknown	Het
Adamts15	C	T	9: 30,902,197	G891R	probably damaging	Het
Adck5	G	A	15: 76,593,286	V107I	possibly damaging	Het
Aoc3	G	A	11: 101,332,305	V456M	possibly damaging	Het
Apbb1	A	T	7: 105,573,855	L183Q	probably benign	Het
BC049730	A	G	7: 24,713,742	K162R	probably benign	Het
Camsap3	A	G	8: 3,604,442	H693R	probably benign	Het
Ccdc88a	A	G	11: 29,456,509	T414A	probably benign	Het
Cdh17	T	C	4: 11,795,581	V387A	probably benign	Het
Coasy	G	T	11: 101,085,870	V489F	probably damaging	Het
Ercc6	A	T	14: 32,552,621	M574L	probably benign	Het
Esrrb	T	C	12: 86,505,824	L180P	probably damaging	Het
Fam83b	A	T	9: 76,491,397	V808D	probably damaging	Het
Fat3	C	T	9: 15,997,804	V2301I	possibly damaging	Het
Gm813	C	A	16: 58,614,712	R83S	probably damaging	Het
Gm9573	A	C	17: 35,618,213	S1581A	probably benign	Het
Hydin	C	A	8: 110,531,053	L2372M	probably benign	Het
Lrrc4c	T	C	2: 97,629,464	V145A	probably benign	Het
Myh4	A	G	11: 67,251,751	I913V	possibly damaging	Het
Nat10	C	T	2: 103,731,374	G654D	probably damaging	Het
Nbn	A	T	4: 15,970,719		probably null	Het
Oas3	T	C	5: 120,769,063	Y503C	unknown	Het
Olfr740	C	A	14: 50,453,673	T207K	probably benign	Het
Pappa	G	T	4: 65,314,792		probably null	Het
Pfas	A	G	11: 68,993,295		probably null	Het
Pfas	G	T	11: 68,990,747		probably null	Het
Pign	A	T	1: 105,591,697	M500K	probably benign	Het
Pkhd1	T	C	1: 20,199,381	K3313R	probably benign	Het
Ptk2b	A	G	14: 66,158,598	V807A	probably benign	Het
Ptpdc1	C	T	13: 48,586,810	E382K	probably damaging	Het
Rfpl4b	A	T	10: 38,820,837	I256N	probably benign	Het
Skap1	C	G	11: 96,541,469	S88*	probably null	Het
Slc4a2	T	C	5: 24,435,886	S742P	probably damaging	Het
Supv3l1	T	C	10: 62,429,820	D647G	probably damaging	Het
Tmem184c	A	C	8: 77,604,757	V121G	probably damaging	Het
Tonsl	T	C	15: 76,623,221	I118V	probably benign	Het
Top1	T	A	2: 160,712,668	Y446*	probably null	Het
Trim37	A	G	11: 87,146,955	R172G	probably damaging	Het
Vgll4	C	A	6: 114,890,807		probably null	Het
Vgll4	T	A	6: 114,890,808		probably null	Het
Vmn1r5	T	G	6: 56,986,165	I275S	possibly damaging	Het
Vwde	A	T	6: 13,187,875	H584Q	probably damaging	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp282	T	A	6: 47,880,009	W59R	probably damaging	Het
Zfp329	T	A	7: 12,811,468	N43I	probably benign	Het
Zswim2	T	A	2: 83,923,759	T186S	probably benign	Het

Other mutations in Hyal4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Hyal4	APN	6	24755872	missense	probably benign	0.03
IGL01791:Hyal4	APN	6	24763895	splice site	probably benign
IGL02434:Hyal4	APN	6	24763858	nonsense	probably null
IGL02523:Hyal4	APN	6	24765969	missense	probably damaging	0.96
IGL03114:Hyal4	APN	6	24755965	missense	probably benign	0.00
IGL02835:Hyal4	UTSW	6	24765715	missense	probably benign	0.00
PIT4494001:Hyal4	UTSW	6	24755834	missense	probably benign	0.05
R0196:Hyal4	UTSW	6	24756221	missense	probably damaging	1.00
R0323:Hyal4	UTSW	6	24756194	missense	probably benign	0.30
R0398:Hyal4	UTSW	6	24756671	missense	probably damaging	0.97
R0961:Hyal4	UTSW	6	24755746	utr 5 prime	probably benign
R1906:Hyal4	UTSW	6	24756111	missense	probably damaging	1.00
R1998:Hyal4	UTSW	6	24756311	missense	probably benign	0.00
R2085:Hyal4	UTSW	6	24755750	start gained	probably benign
R2483:Hyal4	UTSW	6	24765738	missense	probably damaging	0.96
R3622:Hyal4	UTSW	6	24765738	missense	probably damaging	0.96
R3623:Hyal4	UTSW	6	24765738	missense	probably damaging	0.96
R3624:Hyal4	UTSW	6	24765738	missense	probably damaging	0.96
R3712:Hyal4	UTSW	6	24756514	missense	probably damaging	1.00
R4031:Hyal4	UTSW	6	24756224	missense	probably damaging	1.00
R5762:Hyal4	UTSW	6	24765862	missense	possibly damaging	0.93
R6177:Hyal4	UTSW	6	24766090	nonsense	probably null
R6442:Hyal4	UTSW	6	24765850	missense	probably benign	0.08
R6494:Hyal4	UTSW	6	24765746	missense	possibly damaging	0.79
R6901:Hyal4	UTSW	6	24756191	missense	probably damaging	0.97
R7565:Hyal4	UTSW	6	24765934	missense	possibly damaging	0.77
R7973:Hyal4	UTSW	6	24755786	start codon destroyed	probably null	0.99
R7977:Hyal4	UTSW	6	24763866	missense	probably damaging	0.99
R7987:Hyal4	UTSW	6	24763866	missense	probably damaging	0.99
R8020:Hyal4	UTSW	6	24755996	missense	probably benign	0.14
R8676:Hyal4	UTSW	6	24755827	missense	probably damaging	0.99
R9331:Hyal4	UTSW	6	24765867	missense	probably damaging	1.00
Z1176:Hyal4	UTSW	6	24756628	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATACCGGCTTTGTAGCCCTTGGAC -3'
(R):5'- TGTGTTTTGGGGAAGACCACCATTG -3'

Sequencing Primer
(F):5'- TTGCTTATCCCCGAGTAGAAAC -3'
(R):5'- TGATGGGTACCCCTTCTGAT -3'

Posted On

2013-11-08