Mutagenetix > Incidental Mutation

Incidental Mutation 'R2085:Hyal4'

230254

Institutional Source

Beutler Lab

Gene Symbol

Hyal4

Ensembl Gene

ENSMUSG00000029680

Gene Name

hyaluronoglucosaminidase 4

Synonyms

MMRRC Submission

040090-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2085 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24748329-24767662 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 24755750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031691 (fasta)

Gene Model

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

AlphaFold

Q05A56

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	G	T	11: 69,900,372	T127K	possibly damaging	Het
A2m	T	G	6: 121,676,959	I1417S	probably damaging	Het
Acad10	A	G	5: 121,649,460	I142T	possibly damaging	Het
Adprm	T	A	11: 67,041,852	D77V	probably damaging	Het
Apob	C	T	12: 8,012,240	T3574I	probably damaging	Het
Bahcc1	A	G	11: 120,288,082	K2489R	probably damaging	Het
Bub1b	A	G	2: 118,622,195	E443G	possibly damaging	Het
Cd9	A	T	6: 125,463,771		probably null	Het
Cgnl1	G	A	9: 71,630,878	T1194M	probably damaging	Het
Clec9a	T	C	6: 129,410,311	V43A	probably benign	Het
Col11a1	C	T	3: 114,158,142	R1074C	probably damaging	Het
Dpep3	A	G	8: 105,974,714	V401A	probably damaging	Het
Duox2	G	T	2: 122,280,967	H1417N	probably damaging	Het
Efhb	C	T	17: 53,426,909		probably null	Het
F2r	T	C	13: 95,604,910	N39S	probably benign	Het
Fcamr	T	C	1: 130,811,598	F212L	probably damaging	Het
Galt	G	A	4: 41,758,162	R309Q	probably damaging	Het
Gas2l2	C	A	11: 83,427,383	A167S	probably benign	Het
Hecw1	A	T	13: 14,264,087	F904I	possibly damaging	Het
Herc2	C	A	7: 56,212,965	H4127Q	possibly damaging	Het
Hipk1	T	C	3: 103,750,354	T805A	probably benign	Het
Hivep1	A	G	13: 42,183,750	E2435G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hivep2	C	A	10: 14,139,529	C1813*	probably null	Het
Inpp4b	A	G	8: 81,952,274	Y311C	probably damaging	Het
Itih4	A	G	14: 30,892,323	Y410C	possibly damaging	Het
Lama2	A	T	10: 27,204,841	C995*	probably null	Het
Lingo4	C	A	3: 94,402,245	D163E	probably damaging	Het
Malt1	A	G	18: 65,473,147	D642G	probably damaging	Het
Mbd4	T	A	6: 115,848,957	M358L	probably benign	Het
Mbd5	T	A	2: 49,279,311	F1498Y	possibly damaging	Het
Me1	T	C	9: 86,613,554	Q280R	probably damaging	Het
Megf9	T	C	4: 70,448,767	H326R	probably damaging	Het
Nid2	G	A	14: 19,778,043	G516S	probably benign	Het
Olfr186	C	T	16: 59,027,869	V13I	probably benign	Het
Olfr20	T	C	11: 73,354,421	S223P	possibly damaging	Het
Olfr62	T	C	4: 118,666,104	S196P	probably damaging	Het
Olfr728	T	A	14: 50,140,123	N172I	probably damaging	Het
Olfr905	A	G	9: 38,472,927	Y60C	probably damaging	Het
Polr2j	T	C	5: 136,116,771	F7L	probably damaging	Het
Ppp1r16a	T	A	15: 76,693,596	D303E	probably damaging	Het
Prickle2	T	C	6: 92,376,364	E763G	probably damaging	Het
Rdh11	T	C	12: 79,182,782	Y239C	possibly damaging	Het
Sdhaf3	A	G	6: 6,956,048	R8G	probably benign	Het
Sgk2	T	C	2: 163,012,970	S305P	probably damaging	Het
Sptbn2	A	G	19: 4,738,559	S1189G	probably benign	Het
Stab2	A	G	10: 86,954,159	L581P	probably damaging	Het
Tifab	T	C	13: 56,176,297	Q111R	probably damaging	Het
Ubr3	C	T	2: 69,953,764	R775C	probably damaging	Het
Usp17lb	T	A	7: 104,840,415	Q434L	possibly damaging	Het
Wdr46	G	T	17: 33,941,451	E135*	probably null	Het
Zfp318	T	A	17: 46,409,664		probably null	Het
Zfp874a	T	A	13: 67,442,848	H239L	probably damaging	Het
Zscan29	A	T	2: 121,169,946	L60*	probably null	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
R0946:Hyal4	UTSW	6	24755913	nonsense	probably null
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
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
R9573:Hyal4	UTSW	6	24756509	missense	possibly damaging	0.62
Z1176:Hyal4	UTSW	6	24756628	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCTTATCCCCGAGTAGAAACC -3'
(R):5'- ATCAAACACAGGTCTGTTGGAG -3'

Sequencing Primer
(F):5'- GAGTAGAAACCTGATCATGACACTTG -3'
(R):5'- CAAACACAGGTCTGTTGGAGCATTC -3'

Posted On

2014-09-18