Mutagenetix > Incidental Mutation

Incidental Mutation 'R7565:Hyal4'

585373

Institutional Source

Beutler Lab

Gene Symbol

Hyal4

Ensembl Gene

ENSMUSG00000029680

Gene Name

hyaluronoglucosaminidase 4

Synonyms

MMRRC Submission

045710-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24748329-24767662 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24765934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 429 (M429K)

Ref Sequence

ENSEMBL: ENSMUSP00000031691 (fasta)

Gene Model

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

AlphaFold

Q05A56

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031691
AA Change: M429K

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680
AA Change: M429K

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,270	N276K	probably benign	Het
9830107B12Rik	T	A	17: 48,145,579	Y63F	possibly damaging	Het
Abi1	A	T	2: 22,946,584	I421N	probably benign	Het
Ahnak	A	G	19: 9,016,156	I4935V	probably benign	Het
Atg12	A	C	18: 46,734,484	V131G	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,888,138		probably benign	Het
BC028528	TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	3: 95,888,144		probably benign	Het
Bcl3	C	T	7: 19,812,494	V139I	probably damaging	Het
Bloc1s4	T	A	5: 36,748,345	M101L	probably benign	Het
Bmp6	C	T	13: 38,346,257	Q109*	probably null	Het
Cabyr	C	T	18: 12,744,599	T28I	possibly damaging	Het
Catsper3	T	C	13: 55,784,725	S22P	probably benign	Het
Catsperg2	A	T	7: 29,712,981	C395S	probably null	Het
Cd101	T	C	3: 101,018,792	T208A	probably benign	Het
Chaf1a	A	G	17: 56,064,148	S678G	probably benign	Het
Chrna2	A	C	14: 66,151,035	I500L	probably benign	Het
Cln6	C	T	9: 62,850,757	T266I	possibly damaging	Het
Col17a1	T	A	19: 47,671,524	T330S	possibly damaging	Het
Cyp2d40	A	G	15: 82,760,774	V225A	unknown	Het
Dnah10	A	G	5: 124,799,031	N2645D	probably damaging	Het
Dph5	T	A	3: 115,892,797	V74D	probably benign	Het
Dthd1	A	T	5: 62,843,092	I586L	probably damaging	Het
Elane	G	A	10: 79,887,045	R95Q	probably benign	Het
Fbxw17	A	G	13: 50,433,362	T453A	probably damaging	Het
Fpr3	C	A	17: 17,970,965	T166K	probably damaging	Het
Fryl	A	G	5: 73,033,720	I2724T	probably benign	Het
Fsip2	C	T	2: 82,949,512	R201C	probably damaging	Het
Gm14496	T	A	2: 181,991,257	F11Y	possibly damaging	Het
Gm14496	A	G	2: 182,000,837	N767S	probably damaging	Het
Itgad	A	T	7: 128,183,015	T208S	probably damaging	Het
Itpr3	T	G	17: 27,110,888	L1552R	probably benign	Het
Kcp	C	T	6: 29,499,187	C292Y	probably damaging	Het
Kdr	T	C	5: 75,948,843	K958R	probably damaging	Het
Klhl22	T	A	16: 17,789,284	W485R	probably damaging	Het
Ldhb	T	A	6: 142,492,519	I271F	possibly damaging	Het
Lmo7	A	G	14: 101,885,301	R309G	probably damaging	Het
Marco	C	A	1: 120,474,666	C517F	probably damaging	Het
Mpdz	G	A	4: 81,303,654	T1423I	probably benign	Het
Ncoa2	T	C	1: 13,148,376	S1410G	probably benign	Het
Ncor1	T	C	11: 62,401,265	N283S	probably damaging	Het
Nlrp14	T	A	7: 107,181,887	L97*	probably null	Het
Olfm3	T	G	3: 115,122,744	S442A	probably damaging	Het
Olfr116	T	C	17: 37,624,501	I45V	probably damaging	Het
Olfr1436	T	C	19: 12,298,848	T95A	probably benign	Het
Olfr693	T	C	7: 106,678,126	Y120C	probably damaging	Het
Olfr76	T	A	19: 12,120,011	S234C	probably benign	Het
Olfr796	A	G	10: 129,608,160	V107A	possibly damaging	Het
Pank4	G	A	4: 154,980,550	V769I	probably benign	Het
Pdgfrb	G	A	18: 61,083,264	D1065N	probably damaging	Het
Ppp1r12a	G	A	10: 108,268,640	S911N	probably benign	Het
Prdx6b	A	G	2: 80,292,990	T48A	probably damaging	Het
Pttg1ip	A	G	10: 77,597,036	K166E	probably damaging	Het
Rabgap1l	T	C	1: 160,251,417	D9G		Het
Rpl13a	C	T	7: 45,127,042	G69S	probably benign	Het
Rps6ka5	T	A	12: 100,616,083	I177F	probably damaging	Het
Rttn	C	A	18: 89,060,479	A1343E	probably damaging	Het
Ryr2	C	T	13: 11,560,653	V4820I	possibly damaging	Het
Slc12a7	A	G	13: 73,790,772	I223V	possibly damaging	Het
Slc9a3	G	A	13: 74,157,694	V277M	probably damaging	Het
Spata13	A	T	14: 60,751,849	Y988F	probably damaging	Het
Spo11	A	G	2: 172,992,071	I329V	possibly damaging	Het
Tcp11l2	A	T	10: 84,587,134	D63V	probably damaging	Het
Tdrd3	G	A	14: 87,506,593	W659*	probably null	Het
Thnsl2	T	C	6: 71,141,327	D39G	probably benign	Het
Thumpd1	A	T	7: 119,716,862	L288*	probably null	Het
Tram1l1	T	C	3: 124,321,907	Y239H	probably damaging	Het
Usp38	T	A	8: 80,981,972	E992D	probably damaging	Het
Usp45	A	G	4: 21,784,790	T159A	probably benign	Het
Vmn1r218	C	T	13: 23,136,660	T59I	probably benign	Het
Vmn2r70	T	C	7: 85,565,291	I218V	probably benign	Het
Xpr1	T	C	1: 155,307,742	I461V	probably benign	Het
Ydjc	T	C	16: 17,147,005	L8P	probably damaging	Het
Yme1l1	A	T	2: 23,160,220	N21I	possibly damaging	Het
Zfhx4	T	C	3: 5,390,366	L1140P	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
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
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
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'- CAATGTGACCAGAGCAGCTG -3'
(R):5'- GAGTGTCTATCTGTTCCCTAACAC -3'

Sequencing Primer
(F):5'- CTGAGGTGTGCAGTCGTCAC -3'
(R):5'- GGATGCGATTCCCTTTAAAGTC -3'

Posted On

2019-10-17