Mutagenetix > Incidental Mutation

Incidental Mutation 'R3624:Hyal4'

269313

Institutional Source

Beutler Lab

Gene Symbol

Hyal4

Ensembl Gene

ENSMUSG00000029680

Gene Name

hyaluronoglucosaminidase 4

Synonyms

4632428M18Rik

MMRRC Submission

040678-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3624 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24748366-24766518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24765737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 364 (S364C)

Ref Sequence

ENSEMBL: ENSMUSP00000031691 (fasta)

Gene Model

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

AlphaFold

Q05A56

Predicted Effect

probably damaging
Transcript: ENSMUST00000031691
AA Change: S364C

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680
AA Change: S364C

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

Meta Mutation Damage Score

0.5393

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adcy2	T	C	13: 68,790,650 (GRCm39)	T905A	probably damaging	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Anks1	T	C	17: 28,205,262 (GRCm39)	F274L	probably damaging	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Coch	A	G	12: 51,649,609 (GRCm39)	I307V	probably benign	Het
Colec11	T	C	12: 28,644,907 (GRCm39)	M196V	probably benign	Het
Cyp2c54	A	G	19: 40,058,688 (GRCm39)	I248T	probably benign	Het
D17H6S53E	A	G	17: 35,346,512 (GRCm39)	E141G	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Elp1	C	T	4: 56,798,708 (GRCm39)	V85M	possibly damaging	Het
Emilin3	T	C	2: 160,750,177 (GRCm39)	D477G	possibly damaging	Het
Esp4	A	G	17: 40,913,484 (GRCm39)	K117R	unknown	Het
Fam186b	A	G	15: 99,178,396 (GRCm39)	L310S	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
H2-T3	T	C	17: 36,500,957 (GRCm39)	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Irs2	C	T	8: 11,057,643 (GRCm39)	G263D	probably damaging	Het
Itih3	A	G	14: 30,636,700 (GRCm39)	Y38H	probably damaging	Het
Kif21a	A	G	15: 90,849,798 (GRCm39)	V35A	probably damaging	Het
Klhl14	A	T	18: 21,690,953 (GRCm39)	V499D	probably damaging	Het
Kmt2d	T	C	15: 98,740,783 (GRCm39)		probably benign	Het
Loxl4	A	G	19: 42,596,015 (GRCm39)	V146A	probably benign	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Mga	A	G	2: 119,772,245 (GRCm39)	T1702A	probably damaging	Het
Midn	A	G	10: 79,986,144 (GRCm39)	D78G	probably benign	Het
Mlh3	C	T	12: 85,315,169 (GRCm39)	C339Y	probably damaging	Het
Mog	T	C	17: 37,323,338 (GRCm39)	H200R	possibly damaging	Het
Nadk2	T	A	15: 9,084,303 (GRCm39)	W139R	probably damaging	Het
Nsd3	A	G	8: 26,152,835 (GRCm39)	T392A	probably damaging	Het
Pbld2	T	C	10: 62,897,470 (GRCm39)	L57P	probably damaging	Het
Racgap1	T	A	15: 99,540,772 (GRCm39)	N26I	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rspry1	A	G	8: 95,376,405 (GRCm39)	D309G	probably damaging	Het
Sgcz	T	C	8: 38,420,201 (GRCm39)	E17G	probably damaging	Het
Slc16a10	A	G	10: 40,017,890 (GRCm39)	V48A	probably benign	Het
Smad1	A	G	8: 80,066,327 (GRCm39)	V450A	probably benign	Het
Smad9	C	T	3: 54,696,705 (GRCm39)	R257W	probably damaging	Het
Snrpb	C	A	2: 130,017,299 (GRCm39)	R73L	probably null	Het
Spag11a	A	G	8: 19,209,417 (GRCm39)	D69G	probably benign	Het
Sptbn1	T	C	11: 30,090,593 (GRCm39)	H559R	probably damaging	Het
Strn3	T	C	12: 51,707,999 (GRCm39)	Y132C	possibly damaging	Het
Tasor2	T	C	13: 3,645,556 (GRCm39)	T98A	probably benign	Het
Tgm6	T	A	2: 129,993,681 (GRCm39)	V640E	possibly damaging	Het
Trim54	G	A	5: 31,294,320 (GRCm39)	V319M	possibly damaging	Het
Trpm1	A	G	7: 63,894,601 (GRCm39)	Y951C	probably damaging	Het
Ube3a	T	A	7: 58,921,860 (GRCm39)	N77K	probably damaging	Het
Uhrf1	C	T	17: 56,624,023 (GRCm39)	T482I	probably damaging	Het
Veph1	C	T	3: 66,122,858 (GRCm39)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn1r88	A	C	7: 12,911,790 (GRCm39)	M49L	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Zfp60	T	A	7: 27,448,753 (GRCm39)	F474I	probably benign	Het
Zkscan8	C	T	13: 21,704,946 (GRCm39)	R259Q	probably damaging	Het

Other mutations in Hyal4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Hyal4	APN	6	24,755,871 (GRCm39)	missense	probably benign	0.03
IGL01791:Hyal4	APN	6	24,763,894 (GRCm39)	splice site	probably benign
IGL02434:Hyal4	APN	6	24,763,857 (GRCm39)	nonsense	probably null
IGL02523:Hyal4	APN	6	24,765,968 (GRCm39)	missense	probably damaging	0.96
IGL03114:Hyal4	APN	6	24,755,964 (GRCm39)	missense	probably benign	0.00
IGL02835:Hyal4	UTSW	6	24,765,714 (GRCm39)	missense	probably benign	0.00
PIT4494001:Hyal4	UTSW	6	24,755,833 (GRCm39)	missense	probably benign	0.05
R0196:Hyal4	UTSW	6	24,756,220 (GRCm39)	missense	probably damaging	1.00
R0323:Hyal4	UTSW	6	24,756,193 (GRCm39)	missense	probably benign	0.30
R0398:Hyal4	UTSW	6	24,756,670 (GRCm39)	missense	probably damaging	0.97
R0946:Hyal4	UTSW	6	24,755,912 (GRCm39)	nonsense	probably null
R0961:Hyal4	UTSW	6	24,755,745 (GRCm39)	utr 5 prime	probably benign
R1906:Hyal4	UTSW	6	24,756,110 (GRCm39)	missense	probably damaging	1.00
R1998:Hyal4	UTSW	6	24,756,310 (GRCm39)	missense	probably benign	0.00
R2085:Hyal4	UTSW	6	24,755,749 (GRCm39)	start gained	probably benign
R2483:Hyal4	UTSW	6	24,765,737 (GRCm39)	missense	probably damaging	0.96
R3622:Hyal4	UTSW	6	24,765,737 (GRCm39)	missense	probably damaging	0.96
R3623:Hyal4	UTSW	6	24,765,737 (GRCm39)	missense	probably damaging	0.96
R3712:Hyal4	UTSW	6	24,756,513 (GRCm39)	missense	probably damaging	1.00
R4031:Hyal4	UTSW	6	24,756,223 (GRCm39)	missense	probably damaging	1.00
R5762:Hyal4	UTSW	6	24,765,861 (GRCm39)	missense	possibly damaging	0.93
R6177:Hyal4	UTSW	6	24,766,089 (GRCm39)	nonsense	probably null
R6442:Hyal4	UTSW	6	24,765,849 (GRCm39)	missense	probably benign	0.08
R6494:Hyal4	UTSW	6	24,765,745 (GRCm39)	missense	possibly damaging	0.79
R6901:Hyal4	UTSW	6	24,756,190 (GRCm39)	missense	probably damaging	0.97
R7565:Hyal4	UTSW	6	24,765,933 (GRCm39)	missense	possibly damaging	0.77
R7973:Hyal4	UTSW	6	24,755,785 (GRCm39)	start codon destroyed	probably null	0.99
R7977:Hyal4	UTSW	6	24,763,865 (GRCm39)	missense	probably damaging	0.99
R7987:Hyal4	UTSW	6	24,763,865 (GRCm39)	missense	probably damaging	0.99
R8020:Hyal4	UTSW	6	24,755,995 (GRCm39)	missense	probably benign	0.14
R8676:Hyal4	UTSW	6	24,755,826 (GRCm39)	missense	probably damaging	0.99
R9331:Hyal4	UTSW	6	24,765,866 (GRCm39)	missense	probably damaging	1.00
R9573:Hyal4	UTSW	6	24,756,508 (GRCm39)	missense	possibly damaging	0.62
Z1176:Hyal4	UTSW	6	24,756,627 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTTCCGATCTGAGACCTTTG -3'
(R):5'- TCTCTGCCATCACAGCTAGG -3'

Sequencing Primer
(F):5'- CCGATCTGAGACCTTTGTGTTACAG -3'
(R):5'- CATCACAGCTAGGTCAGTGTCTG -3'

Posted On

2015-02-19