Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Hyal4'

661378

Institutional Source

Beutler Lab

Gene Symbol

Hyal4

Ensembl Gene

ENSMUSG00000029680

Gene Name

hyaluronoglucosaminidase 4

Synonyms

MMRRC Submission

068531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24748329-24767662 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24755827 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 15 (Q15K)

Ref Sequence

ENSEMBL: ENSMUSP00000031691 (fasta)

Gene Model

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

AlphaFold

Q05A56

Predicted Effect

probably damaging
Transcript: ENSMUST00000031691
AA Change: Q15K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680
AA Change: Q15K

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: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

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
0610037L13Rik	A	G	4: 107,895,599 (GRCm38)	N152D	unknown	Het
1700021F05Rik	A	G	10: 43,532,937 (GRCm38)	L70S	probably benign	Het
Acsm3	T	A	7: 119,775,169 (GRCm38)	S281R	probably damaging	Het
Adipor2	G	T	6: 119,363,486 (GRCm38)		probably benign	Het
Alk	T	C	17: 71,897,941 (GRCm38)	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584 (GRCm38)		probably null	Het
Anxa6	C	A	11: 55,001,282 (GRCm38)	E283*	probably null	Het
Bnc2	T	C	4: 84,276,313 (GRCm38)	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,508,069 (GRCm38)	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860 (GRCm38)	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910 (GRCm38)	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017 (GRCm38)	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510 (GRCm38)	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,379,420 (GRCm38)	T340A	possibly damaging	Het
Dera	A	T	6: 137,830,204 (GRCm38)	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804 (GRCm38)	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621 (GRCm38)	T152M	probably damaging	Het
Epb41l2	C	T	10: 25,443,776 (GRCm38)	T169M	probably benign	Het
Fam186a	T	C	15: 99,947,142 (GRCm38)	D407G	unknown	Het
Fam189a2	T	C	19: 23,988,494 (GRCm38)	K214E	probably damaging	Het
Gli3	T	A	13: 15,715,034 (GRCm38)	C578S	probably damaging	Het
Gm436	G	A	4: 144,670,113 (GRCm38)	R350C	possibly damaging	Het
Gm6408	A	G	5: 146,482,427 (GRCm38)	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919 (GRCm38)		probably benign	Het
Herc2	C	A	7: 56,188,613 (GRCm38)	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,643,073 (GRCm38)		probably benign	Het
Itpr3	G	A	17: 27,118,677 (GRCm38)		probably benign	Het
Kcna3	A	G	3: 107,036,592 (GRCm38)	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,591,596 (GRCm38)	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137 (GRCm38)	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430 (GRCm38)		probably null	Het
Myh13	T	A	11: 67,342,485 (GRCm38)	L610Q	probably damaging	Het
Olfr1020	T	A	2: 85,849,902 (GRCm38)	M150K	probably benign	Het
Olfr1339	C	A	4: 118,735,038 (GRCm38)	P170T	probably damaging	Het
Olfr917	T	C	9: 38,665,768 (GRCm38)	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076 (GRCm38)	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387 (GRCm38)	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746 (GRCm38)	L26Q	probably damaging	Het
Prob1	T	C	18: 35,653,986 (GRCm38)	N405S	possibly damaging	Het
Proz	T	G	8: 13,073,630 (GRCm38)	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065 (GRCm38)	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,229,952 (GRCm38)	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,228,976 (GRCm38)	Y103N	probably damaging	Het
Rspry1	G	C	8: 94,632,119 (GRCm38)	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619 (GRCm38)	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781 (GRCm38)	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159 (GRCm38)	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903 (GRCm38)	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708 (GRCm38)		probably benign	Het
Tek	A	T	4: 94,849,837 (GRCm38)	H708L	probably benign	Het
Tmem89	C	T	9: 108,915,027 (GRCm38)	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822 (GRCm38)	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829 (GRCm38)	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252 (GRCm38)	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760 (GRCm38)	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379 (GRCm38)		probably benign	Het
Zfp423	C	A	8: 87,782,710 (GRCm38)	M335I	probably benign	Het
Zfp74	T	C	7: 29,934,654 (GRCm38)	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,662,840 (GRCm38)	S116R	probably benign	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
R1906:Hyal4	UTSW	6	24,756,111 (GRCm38)	missense	probably damaging	1.00
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
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'- GAGTAGAAACCTGATCATGACACTTG -3'
(R):5'- GGGCTTCCAACCATCTGAAAC -3'

Sequencing Primer
(F):5'- ACCTGATCATGACACTTGATTTTAC -3'
(R):5'- TCCAACCATCTGAAACACTTTTAAG -3'

Posted On

2021-03-08