Mutagenetix > Incidental Mutation

Incidental Mutation 'R9331:Hyal4'

706839

Institutional Source

Beutler Lab

Gene Symbol

Hyal4

Ensembl Gene

ENSMUSG00000029680

Gene Name

hyaluronoglucosaminidase 4

Synonyms

4632428M18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9331 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24748366-24766518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24765866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 407 (I407L)

Ref Sequence

ENSEMBL: ENSMUSP00000031691 (fasta)

Gene Model

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

AlphaFold

Q05A56

Predicted Effect

probably damaging
Transcript: ENSMUST00000031691
AA Change: I407L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680
AA Change: I407L

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,616,324 (GRCm39)	E922G	probably benign	Het
Abca8a	A	G	11: 109,917,154 (GRCm39)	L1615P	probably damaging	Het
Actrt3	T	C	3: 30,652,050 (GRCm39)	D348G	probably damaging	Het
Adam3	A	G	8: 25,177,951 (GRCm39)	M654T	probably benign	Het
Adamts8	A	T	9: 30,862,770 (GRCm39)	H325L	probably damaging	Het
Agpat2	A	G	2: 26,487,318 (GRCm39)	Y72H	probably benign	Het
Ap3m1	A	G	14: 21,095,666 (GRCm39)	Y55H	possibly damaging	Het
Cacna1a	C	T	8: 85,142,446 (GRCm39)	A58V	probably damaging	Het
Cacna1c	C	T	6: 119,084,909 (GRCm39)	V10I		Het
Ccnt1	T	A	15: 98,441,097 (GRCm39)	K724*	probably null	Het
Cd72	T	A	4: 43,454,320 (GRCm39)	T38S	possibly damaging	Het
Crispld1	T	A	1: 17,832,454 (GRCm39)	I480K	probably damaging	Het
Diaph3	G	T	14: 87,378,461 (GRCm39)	Y30*	probably null	Het
Ei24	A	G	9: 36,701,217 (GRCm39)	I34T	possibly damaging	Het
Fdxacb1	G	A	9: 50,681,511 (GRCm39)	S144N	probably damaging	Het
Fgf21	G	T	7: 45,263,614 (GRCm39)	Q155K	probably benign	Het
Gdap1l1	A	T	2: 163,295,664 (GRCm39)	R310S	probably benign	Het
Gm44501	G	A	17: 40,889,620 (GRCm39)	V45I	probably benign	Het
Gne	A	G	4: 44,066,845 (GRCm39)	L56P	probably damaging	Het
Hcn4	T	C	9: 58,767,705 (GRCm39)	S1089P	probably damaging	Het
Hexim1	C	T	11: 103,007,974 (GRCm39)	T76M	probably damaging	Het
Hkdc1	A	T	10: 62,236,114 (GRCm39)	L476*	probably null	Het
Hoxd8	CGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGC	2: 74,535,942 (GRCm39)		probably benign	Het
Ighv5-9-1	T	C	12: 113,699,878 (GRCm39)	Y78C	possibly damaging	Het
Kif20a	T	A	18: 34,762,562 (GRCm39)	C478*	probably null	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Ltbp2	C	T	12: 84,922,965 (GRCm39)	R34Q	probably benign	Het
Mccc1	A	G	3: 36,014,238 (GRCm39)	V693A	probably damaging	Het
Muc5b	C	A	7: 141,411,475 (GRCm39)	Q1474K	unknown	Het
Nos1	T	C	5: 118,038,589 (GRCm39)	V474A	possibly damaging	Het
Nprl2	G	A	9: 107,421,955 (GRCm39)	V244M	probably damaging	Het
Npy2r	A	G	3: 82,448,068 (GRCm39)	S236P	probably damaging	Het
Or8b9	G	A	9: 37,766,710 (GRCm39)	V199I	probably benign	Het
Or8c10	A	G	9: 38,279,003 (GRCm39)	S44G	probably benign	Het
P2rx7	T	C	5: 122,818,961 (GRCm39)	L461P	probably benign	Het
Pacc1	T	C	1: 191,077,318 (GRCm39)		probably null	Het
Pde12	T	C	14: 26,389,828 (GRCm39)	I294V	probably benign	Het
Plcl1	T	C	1: 55,736,030 (GRCm39)	L457P	possibly damaging	Het
Plekho2	C	A	9: 65,463,866 (GRCm39)	A328S	probably benign	Het
Polg	T	C	7: 79,108,148 (GRCm39)	K556E	probably damaging	Het
Prl7a2	A	G	13: 27,849,062 (GRCm39)	S76P	probably damaging	Het
Ptar1	T	A	19: 23,671,707 (GRCm39)	C37S	probably benign	Het
Pwwp2b	G	A	7: 138,835,357 (GRCm39)	G266D	probably damaging	Het
Pygm	T	C	19: 6,448,129 (GRCm39)	F812L	probably damaging	Het
Smarcc2	A	T	10: 128,323,310 (GRCm39)	T982S	unknown	Het
Spata31e2	T	C	1: 26,722,790 (GRCm39)	R797G	probably benign	Het
Syne1	C	G	10: 5,073,666 (GRCm39)	V1226L	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmub1	T	C	5: 24,650,985 (GRCm39)	T225A	probably damaging	Het
Trmo	A	C	4: 46,387,642 (GRCm39)	C59W	possibly damaging	Het
Ttc6	C	A	12: 57,720,509 (GRCm39)	A925D	probably damaging	Het
Tubb1	A	G	2: 174,297,472 (GRCm39)	E27G	probably damaging	Het
Unkl	G	A	17: 25,450,723 (GRCm39)	C503Y	probably damaging	Het
Usp40	A	G	1: 87,901,828 (GRCm39)	I785T	probably damaging	Het
Vmn2r32	G	A	7: 7,467,402 (GRCm39)	Q709*	probably null	Het
Xaf1	T	C	11: 72,197,470 (GRCm39)	S149P	probably damaging	Het
Ythdc2	T	A	18: 44,970,499 (GRCm39)	V271E	possibly damaging	Het
Zfp386	C	T	12: 116,011,433 (GRCm39)		probably benign	Het
Zfp456	T	A	13: 67,514,389 (GRCm39)	E439V	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
R3624: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
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'- GTTCAGTCTAAAGAGCTGCCTC -3'
(R):5'- CAGACACAGTGTTATTACAGAGC -3'

Sequencing Primer
(F):5'- GCCTCTGGCTCTATAACCTCTGATC -3'
(R):5'- ACACAGTGTTATTACAGAGCTAGAG -3'

Posted On

2022-04-18