Mutagenetix > Incidental Mutations

Incidental Mutation 'R6901:Hyal4'

538521

Institutional Source

Beutler Lab

Gene Symbol

Hyal4

Ensembl Gene

ENSMUSG00000029680

Gene Name

hyaluronoglucosaminidase 4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6901 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24748329-24767662 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24756191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 136 (E136G)

Ref Sequence

ENSEMBL: ENSMUSP00000031691 (fasta)

Gene Model

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

AlphaFold

Q05A56

Predicted Effect

probably damaging
Transcript: ENSMUST00000031691
AA Change: E136G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680
AA Change: E136G

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: 99.3%
20x: 97.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	A	9: 122,368,155	S136T	probably benign	Het
Anxa10	T	C	8: 62,096,782	T10A	probably damaging	Het
Ap3b1	A	G	13: 94,418,142	E262G	probably benign	Het
Ap3b2	T	C	7: 81,484,912		probably null	Het
Arhgef40	A	G	14: 51,997,368	T1043A	probably damaging	Het
Arhgef5	T	A	6: 43,273,298	S328T	probably benign	Het
Arid4a	A	G	12: 71,067,137	K166R	probably damaging	Het
Cdh12	A	G	15: 21,583,786	I571V	probably benign	Het
Cdh4	G	A	2: 179,860,194	V316I	probably benign	Het
Cebpg	A	T	7: 35,050,777	H20Q	probably benign	Het
Ces4a	G	A	8: 105,146,698	V392I	probably benign	Het
CN725425	C	A	15: 91,240,763	P169T	possibly damaging	Het
Cyp2c54	A	G	19: 40,070,259	F243S	probably damaging	Het
Dkk2	T	A	3: 132,175,126		probably null	Het
Dync2h1	A	G	9: 7,131,855	Y1651H	probably damaging	Het
Dyrk1b	T	A	7: 28,185,117	L346Q	probably damaging	Het
Ephx4	T	C	5: 107,413,561	V85A	probably benign	Het
Etv6	A	G	6: 134,266,458	E392G	probably benign	Het
Fli1	T	A	9: 32,429,925	N202I	probably benign	Het
Gm10093	A	G	17: 78,492,660	E360G	probably benign	Het
Gpc6	G	T	14: 117,951,217	R421L	possibly damaging	Het
Gse1	A	G	8: 120,229,822		probably benign	Het
Hnrnpab	T	C	11: 51,601,848		probably benign	Het
Kcna3	C	T	3: 107,036,568	A49V	probably benign	Het
Krt42	C	T	11: 100,269,716	M52I	probably benign	Het
Lyrm4	A	T	13: 36,117,124	Y13N	probably damaging	Het
Map2	C	T	1: 66,421,773	S1576L	possibly damaging	Het
Map3k12	G	T	15: 102,500,629	P817Q	possibly damaging	Het
Map3k12	G	T	15: 102,500,630	P817T	possibly damaging	Het
Masp1	T	C	16: 23,513,834	K84E	probably damaging	Het
Mki67	A	T	7: 135,708,760		probably null	Het
Mrap	C	G	16: 90,749,305	S94C	probably damaging	Het
Mybpc2	C	A	7: 44,505,355	C986F	probably damaging	Het
Nbea	A	C	3: 56,019,415	M789R	probably damaging	Het
Olfr1416	G	T	1: 92,480,605	N5K	probably damaging	Het
Olfr694	T	C	7: 106,689,189	I181V	probably benign	Het
Pde4a	A	G	9: 21,204,970	N475S	probably benign	Het
Pex7	C	T	10: 19,860,994	V297I	probably benign	Het
Pkd1l3	A	T	8: 109,614,614	H33L	unknown	Het
Prl8a6	A	T	13: 27,437,047	Y67N	possibly damaging	Het
Rcor1	A	T	12: 111,108,888	E383V	probably damaging	Het
Slc22a27	A	T	19: 7,926,579	S64R	probably damaging	Het
Snx7	G	A	3: 117,829,636	Q292*	probably null	Het
Tgm3	C	T	2: 130,041,970	T516M	possibly damaging	Het
Trim9	T	C	12: 70,346,639	E177G	probably damaging	Het
Ttc26	G	A	6: 38,401,144	R297H	possibly damaging	Het
Ttc28	C	A	5: 111,277,025	T1541N	possibly damaging	Het
Ttc8	T	A	12: 98,961,476	L202H	probably damaging	Het
Ttll13	T	C	7: 80,250,182	Y90H	probably damaging	Het
Uba1y	T	G	Y: 825,496	I286S	probably benign	Het
Ubxn11	G	A	4: 134,126,264	A125T	probably damaging	Het
Vmn1r48	A	G	6: 90,036,568	Y92H	possibly damaging	Het
Vmn1r74	T	C	7: 11,847,441	F223L	probably benign	Het
Vwa5b1	G	A	4: 138,586,569	T696I	probably benign	Het
Zfp266	G	T	9: 20,499,599	Y427*	probably null	Het
Zfp362	C	T	4: 128,786,015	C273Y	probably damaging	Het
Zfp385c	T	C	11: 100,632,759	N123S	probably benign	Het
Zfp936	T	A	7: 43,190,043	H311Q	probably damaging	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
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
Z1176:Hyal4	UTSW	6	24756628	missense	probably damaging	1.00

Predicted Primers

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

Sequencing Primer
(F):5'- TCAGATGGTTGGAAGCCCTC -3'
(R):5'- GGCTGAATATTCAATATCAGCAGCAG -3'

Posted On

2018-11-06