Mutagenetix > Incidental Mutation

Incidental Mutation 'R1906:Hyal4'

214367

Institutional Source

Beutler Lab

Gene Symbol

Hyal4

Ensembl Gene

ENSMUSG00000029680

Gene Name

hyaluronoglucosaminidase 4

Synonyms

MMRRC Submission

039925-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1906 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24748329-24767662 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 24756111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 109 (N109K)

Ref Sequence

ENSEMBL: ENSMUSP00000031691 (fasta)

Gene Model

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

AlphaFold

Q05A56

Predicted Effect

probably damaging
Transcript: ENSMUST00000031691
AA Change: N109K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680
AA Change: N109K

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: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,072,985 (GRCm38)	T923I	probably benign	Het
Abhd13	T	A	8: 9,988,170 (GRCm38)	C256S	probably benign	Het
Adamts5	C	T	16: 85,868,685 (GRCm38)	W576*	probably null	Het
Adnp	A	T	2: 168,182,367 (GRCm38)	S1003T	probably benign	Het
AI987944	C	T	7: 41,375,126 (GRCm38)	R146Q	probably benign	Het
Apol6	G	T	15: 77,050,860 (GRCm38)	V110F	probably damaging	Het
Arhgap27	A	G	11: 103,332,925 (GRCm38)	F651L	probably damaging	Het
Atm	T	C	9: 53,506,568 (GRCm38)	D813G	probably damaging	Het
Casd1	T	A	6: 4,641,979 (GRCm38)	I752N	probably damaging	Het
Cdr2	A	G	7: 120,982,001 (GRCm38)	Y18H	probably damaging	Het
Cntn4	T	C	6: 106,353,646 (GRCm38)	F75S	probably benign	Het
Col20a1	G	A	2: 180,998,697 (GRCm38)	R549H	probably benign	Het
Col28a1	A	T	6: 7,999,644 (GRCm38)	N1024K	probably benign	Het
Ddx58	T	C	4: 40,206,054 (GRCm38)	K846R	probably benign	Het
Dnah10	T	A	5: 124,800,984 (GRCm38)	V2654D	probably damaging	Het
Dnph1	A	T	17: 46,496,861 (GRCm38)	I18F	probably damaging	Het
Dsn1	G	A	2: 156,996,243 (GRCm38)	R334W	probably damaging	Het
Egf	T	A	3: 129,725,224 (GRCm38)	K325N	probably benign	Het
Eps15	T	G	4: 109,324,201 (GRCm38)	S311A	possibly damaging	Het
Fmo3	G	T	1: 162,966,906 (GRCm38)	D198E	probably damaging	Het
Folh1	C	G	7: 86,742,166 (GRCm38)		probably null	Het
Foxn1	A	G	11: 78,371,810 (GRCm38)		probably null	Het
Gm10604	T	G	4: 11,979,989 (GRCm38)	D105A	unknown	Het
Gpx8	A	G	13: 113,045,576 (GRCm38)	C108R	probably damaging	Het
Herc2	A	T	7: 56,114,864 (GRCm38)	I1013L	probably benign	Het
Il22ra1	T	G	4: 135,751,233 (GRCm38)	C538W	probably damaging	Het
Ints13	A	T	6: 146,552,370 (GRCm38)		probably null	Het
Krt75	T	A	15: 101,573,366 (GRCm38)	T156S	possibly damaging	Het
Lama2	A	C	10: 27,056,527 (GRCm38)		probably null	Het
Lifr	G	T	15: 7,188,131 (GRCm38)	V847L	probably damaging	Het
Lmf1	T	A	17: 25,612,335 (GRCm38)	I185N	probably damaging	Het
Mast1	G	A	8: 84,916,266 (GRCm38)	R967C	probably damaging	Het
Ms4a15	T	C	19: 10,983,280 (GRCm38)	I94V	probably benign	Het
Mycbpap	A	T	11: 94,505,621 (GRCm38)	M131K	probably benign	Het
Ncor1	A	T	11: 62,349,385 (GRCm38)	M920K	possibly damaging	Het
Neb	A	G	2: 52,308,526 (GRCm38)	Y437H	probably damaging	Het
Npy5r	A	T	8: 66,681,473 (GRCm38)	W223R	probably damaging	Het
Olfr1219	A	G	2: 89,075,070 (GRCm38)	V7A	possibly damaging	Het
Olfr1333	G	A	4: 118,830,270 (GRCm38)	H56Y	probably damaging	Het
Olfr248	C	A	1: 174,391,164 (GRCm38)	L32M	probably damaging	Het
Olfr804	T	G	10: 129,705,496 (GRCm38)	V206G	probably benign	Het
Polg	T	C	7: 79,460,322 (GRCm38)	K353E	probably damaging	Het
Proz	C	G	8: 13,073,686 (GRCm38)		probably null	Het
Pus7	T	C	5: 23,778,211 (GRCm38)	D86G	probably damaging	Het
Rhpn1	T	C	15: 75,711,824 (GRCm38)	V386A	probably benign	Het
Sptbn4	A	G	7: 27,391,431 (GRCm38)		probably null	Het
Srp68	A	T	11: 116,250,761 (GRCm38)	I424N	probably damaging	Het
Stard9	A	G	2: 120,696,427 (GRCm38)	E1055G	probably benign	Het
Taf4b	A	G	18: 14,822,102 (GRCm38)	I571V	probably benign	Het
Tas2r107	T	C	6: 131,659,988 (GRCm38)	M33V	probably benign	Het
Thap12	T	C	7: 98,716,740 (GRCm38)	L705P	probably damaging	Het
Tom1	T	C	8: 75,051,590 (GRCm38)	V100A	probably damaging	Het
Tox3	A	G	8: 90,248,429 (GRCm38)		probably benign	Het
Vmn2r82	A	G	10: 79,396,510 (GRCm38)	N781S	probably damaging	Het
Vwa5b1	A	T	4: 138,600,236 (GRCm38)	V343E	possibly damaging	Het
Zbbx	A	G	3: 75,071,740 (GRCm38)	Y467H	probably damaging	Het
Zbtb46	G	A	2: 181,423,839 (GRCm38)	R173W	probably damaging	Het
Zfp112	A	G	7: 24,122,295 (GRCm38)	D20G	probably benign	Het
Zfp777	A	C	6: 48,042,061 (GRCm38)	M313R	probably damaging	Het

Other mutations in Hyal4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Hyal4	APN	6	24,755,872 (GRCm38)	missense	probably benign	0.03
IGL01791:Hyal4	APN	6	24,763,895 (GRCm38)	splice site	probably benign
IGL02434:Hyal4	APN	6	24,763,858 (GRCm38)	nonsense	probably null
IGL02523:Hyal4	APN	6	24,765,969 (GRCm38)	missense	probably damaging	0.96
IGL03114:Hyal4	APN	6	24,755,965 (GRCm38)	missense	probably benign	0.00
IGL02835:Hyal4	UTSW	6	24,765,715 (GRCm38)	missense	probably benign	0.00
PIT4494001:Hyal4	UTSW	6	24,755,834 (GRCm38)	missense	probably benign	0.05
R0196:Hyal4	UTSW	6	24,756,221 (GRCm38)	missense	probably damaging	1.00
R0323:Hyal4	UTSW	6	24,756,194 (GRCm38)	missense	probably benign	0.30
R0398:Hyal4	UTSW	6	24,756,671 (GRCm38)	missense	probably damaging	0.97
R0946:Hyal4	UTSW	6	24,755,913 (GRCm38)	nonsense	probably null
R0961:Hyal4	UTSW	6	24,755,746 (GRCm38)	utr 5 prime	probably benign
R1998:Hyal4	UTSW	6	24,756,311 (GRCm38)	missense	probably benign	0.00
R2085:Hyal4	UTSW	6	24,755,750 (GRCm38)	start gained	probably benign
R2483:Hyal4	UTSW	6	24,765,738 (GRCm38)	missense	probably damaging	0.96
R3622:Hyal4	UTSW	6	24,765,738 (GRCm38)	missense	probably damaging	0.96
R3623:Hyal4	UTSW	6	24,765,738 (GRCm38)	missense	probably damaging	0.96
R3624:Hyal4	UTSW	6	24,765,738 (GRCm38)	missense	probably damaging	0.96
R3712:Hyal4	UTSW	6	24,756,514 (GRCm38)	missense	probably damaging	1.00
R4031:Hyal4	UTSW	6	24,756,224 (GRCm38)	missense	probably damaging	1.00
R5762:Hyal4	UTSW	6	24,765,862 (GRCm38)	missense	possibly damaging	0.93
R6177:Hyal4	UTSW	6	24,766,090 (GRCm38)	nonsense	probably null
R6442:Hyal4	UTSW	6	24,765,850 (GRCm38)	missense	probably benign	0.08
R6494:Hyal4	UTSW	6	24,765,746 (GRCm38)	missense	possibly damaging	0.79
R6901:Hyal4	UTSW	6	24,756,191 (GRCm38)	missense	probably damaging	0.97
R7565:Hyal4	UTSW	6	24,765,934 (GRCm38)	missense	possibly damaging	0.77
R7973:Hyal4	UTSW	6	24,755,786 (GRCm38)	start codon destroyed	probably null	0.99
R7977:Hyal4	UTSW	6	24,763,866 (GRCm38)	missense	probably damaging	0.99
R7987:Hyal4	UTSW	6	24,763,866 (GRCm38)	missense	probably damaging	0.99
R8020:Hyal4	UTSW	6	24,755,996 (GRCm38)	missense	probably benign	0.14
R8676:Hyal4	UTSW	6	24,755,827 (GRCm38)	missense	probably damaging	0.99
R9331:Hyal4	UTSW	6	24,765,867 (GRCm38)	missense	probably damaging	1.00
R9573:Hyal4	UTSW	6	24,756,509 (GRCm38)	missense	possibly damaging	0.62
Z1176:Hyal4	UTSW	6	24,756,628 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCCAACAGACCTGTGTTTG -3'
(R):5'- GGCTGAATATTCAATATCAGCAGCAG -3'

Sequencing Primer
(F):5'- AGATGGTTGGAAGCCCT -3'
(R):5'- ATCAGCAGCAGATATGTTCTCTTTC -3'

Posted On

2014-07-14