Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Hyal6'

271592

Institutional Source

Beutler Lab

Gene Symbol

Hyal6

Ensembl Gene

ENSMUSG00000029679

Gene Name

hyaluronoglucosaminidase 6

Synonyms

4932701A20Rik, Hyal-ps1

MMRRC Submission

039811-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24733245-24745452 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 24734032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031690]

AlphaFold

Q9D4E9

Predicted Effect

probably benign
Transcript: ENSMUST00000031690

SMART Domains

Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Glyco_hydro_56	30	363	4.8e-136	PFAM
EGF	365	438	6.02e0	SMART
transmembrane domain	457	479	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,852,593 (GRCm38)	E493G	probably damaging	Het
Aff3	A	T	1: 38,535,702 (GRCm38)	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,232,415 (GRCm38)	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,041,070 (GRCm38)	T156A	probably benign	Het
Arhgef4	T	A	1: 34,724,160 (GRCm38)	S832R	possibly damaging	Het
Asb10	T	C	5: 24,533,676 (GRCm38)	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,965,984 (GRCm38)	T25A	probably benign	Het
Atp13a2	T	A	4: 141,002,460 (GRCm38)	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,776,897 (GRCm38)	Y174*	probably null	Het
Bche	A	G	3: 73,700,620 (GRCm38)	I491T	probably benign	Het
Bckdhb	T	C	9: 83,953,783 (GRCm38)		probably null	Het
Cadps2	C	T	6: 23,320,932 (GRCm38)		probably null	Het
Cdc42bpb	A	T	12: 111,322,907 (GRCm38)	V468E	probably damaging	Het
Chrnd	T	C	1: 87,192,548 (GRCm38)	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,936,878 (GRCm38)	V645D	unknown	Het
Cpa1	C	T	6: 30,643,008 (GRCm38)	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,841,876 (GRCm38)		probably benign	Het
Cyp2c39	C	A	19: 39,538,851 (GRCm38)		probably benign	Het
Cyp2d26	T	C	15: 82,794,007 (GRCm38)	N56S	probably damaging	Het
Ddx21	A	G	10: 62,594,147 (GRCm38)		probably benign	Het
Dnah11	A	T	12: 118,027,558 (GRCm38)	C2358S	probably damaging	Het
Entpd8	T	C	2: 25,084,306 (GRCm38)	S368P	probably benign	Het
Epg5	A	T	18: 78,023,990 (GRCm38)	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,167,796 (GRCm38)	V623E	probably benign	Het
Flg2	A	G	3: 93,202,999 (GRCm38)	E778G	unknown	Het
Gbe1	C	T	16: 70,495,324 (GRCm38)	R515*	probably null	Het
Hsd17b6	A	G	10: 127,994,327 (GRCm38)		probably null	Het
Ifi27l2b	A	G	12: 103,451,319 (GRCm38)	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,512,401 (GRCm38)	D309E	unknown	Het
Lrp6	C	T	6: 134,464,451 (GRCm38)	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103 (GRCm38)	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,230,680 (GRCm38)	R150*	probably null	Het
Mx1	T	C	16: 97,451,512 (GRCm38)	*289W	probably null	Het
Myo7b	T	C	18: 31,961,185 (GRCm38)	E1970G	probably damaging	Het
Mypn	T	C	10: 63,121,964 (GRCm38)	Y24C	probably damaging	Het
Naxe	G	C	3: 88,057,133 (GRCm38)	P167A	probably benign	Het
Nmnat2	A	T	1: 153,112,440 (GRCm38)	K272*	probably null	Het
Nmnat3	C	T	9: 98,354,111 (GRCm38)	T19M	probably damaging	Het
Olfr1275	T	C	2: 111,231,698 (GRCm38)	I32V	probably benign	Het
Olfr1412	G	A	1: 92,588,389 (GRCm38)	V20M	probably benign	Het
Olfr1474	A	G	19: 13,471,362 (GRCm38)	T131A	probably benign	Het
Olfr64	A	T	7: 103,893,555 (GRCm38)	F60Y	probably damaging	Het
Olfr66	A	G	7: 103,881,592 (GRCm38)	V217A	probably benign	Het
Pgm3	T	G	9: 86,556,204 (GRCm38)	E509D	probably damaging	Het
Phf3	A	T	1: 30,811,942 (GRCm38)	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,581,569 (GRCm38)	S3062A	probably benign	Het
Pogz	A	T	3: 94,870,126 (GRCm38)	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,523,470 (GRCm38)	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,896,507 (GRCm38)	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,635,318 (GRCm38)	Y703C	possibly damaging	Het
Recql	T	A	6: 142,364,598 (GRCm38)	Q502L	probably benign	Het
Rgs9	A	T	11: 109,239,499 (GRCm38)	Y383*	probably null	Het
Rimbp3	T	C	16: 17,212,632 (GRCm38)	S1307P	probably benign	Het
Rspo1	A	G	4: 125,007,745 (GRCm38)	T200A	probably damaging	Het
Ryr3	C	T	2: 112,867,292 (GRCm38)	M922I	probably damaging	Het
Samm50	C	T	15: 84,211,127 (GRCm38)	A438V	probably damaging	Het
Sec1	A	C	7: 45,678,832 (GRCm38)	S264A	probably benign	Het
Sec31a	A	T	5: 100,381,336 (GRCm38)		probably null	Het
Slc13a3	T	C	2: 165,406,699 (GRCm38)	N553S	unknown	Het
Smg6	T	A	11: 74,946,116 (GRCm38)	L852Q	probably damaging	Het
Spata13	A	G	14: 60,691,725 (GRCm38)	N244S	probably damaging	Het
Srbd1	T	C	17: 86,057,685 (GRCm38)	R648G	probably damaging	Het
Sugct	T	G	13: 17,452,454 (GRCm38)		probably null	Het
Tmed10	A	G	12: 85,354,879 (GRCm38)	Y85H	probably damaging	Het
Trim68	A	G	7: 102,684,073 (GRCm38)	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,038 (GRCm38)	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,225,256 (GRCm38)	R21W	probably damaging	Het
Ttn	T	C	2: 76,810,699 (GRCm38)	I11863V	probably null	Het
Ubp1	G	A	9: 113,964,579 (GRCm38)	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,314,918 (GRCm38)	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,261,737 (GRCm38)	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,351,373 (GRCm38)	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,828,465 (GRCm38)	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,418,572 (GRCm38)	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,796,652 (GRCm38)	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,883,766 (GRCm38)	S284P	probably damaging	Het
Zswim8	C	A	14: 20,716,327 (GRCm38)	H841N	probably damaging	Het

Other mutations in Hyal6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Hyal6	APN	6	24,734,179 (GRCm38)	missense	probably damaging	1.00
IGL02269:Hyal6	APN	6	24,740,859 (GRCm38)	missense	probably damaging	0.97
IGL02729:Hyal6	APN	6	24,734,695 (GRCm38)	missense	probably damaging	1.00
IGL02793:Hyal6	APN	6	24,734,379 (GRCm38)	nonsense	probably null
IGL02943:Hyal6	APN	6	24,743,439 (GRCm38)	missense	probably damaging	0.99
IGL03351:Hyal6	APN	6	24,743,429 (GRCm38)	missense	probably damaging	1.00
R0481:Hyal6	UTSW	6	24,743,418 (GRCm38)	missense	probably damaging	1.00
R0517:Hyal6	UTSW	6	24,734,853 (GRCm38)	missense	probably benign
R0853:Hyal6	UTSW	6	24,734,073 (GRCm38)	missense	probably benign
R1182:Hyal6	UTSW	6	24,743,417 (GRCm38)	missense	probably damaging	1.00
R1401:Hyal6	UTSW	6	24,743,435 (GRCm38)	missense	probably damaging	1.00
R1858:Hyal6	UTSW	6	24,740,858 (GRCm38)	missense	probably benign	0.01
R2011:Hyal6	UTSW	6	24,734,724 (GRCm38)	missense	possibly damaging	0.69
R3441:Hyal6	UTSW	6	24,734,593 (GRCm38)	missense	probably benign
R4819:Hyal6	UTSW	6	24,734,966 (GRCm38)	nonsense	probably null
R5357:Hyal6	UTSW	6	24,734,518 (GRCm38)	missense	probably benign	0.05
R5648:Hyal6	UTSW	6	24,734,236 (GRCm38)	missense	possibly damaging	0.61
R5717:Hyal6	UTSW	6	24,743,691 (GRCm38)	missense	probably benign	0.15
R5884:Hyal6	UTSW	6	24,743,369 (GRCm38)	missense	probably damaging	1.00
R6657:Hyal6	UTSW	6	24,734,758 (GRCm38)	missense	possibly damaging	0.61
R6826:Hyal6	UTSW	6	24,734,372 (GRCm38)	missense	probably damaging	1.00
R7178:Hyal6	UTSW	6	24,734,835 (GRCm38)	missense	probably benign	0.28
R7531:Hyal6	UTSW	6	24,740,787 (GRCm38)	missense	possibly damaging	0.46
R7630:Hyal6	UTSW	6	24,734,584 (GRCm38)	missense	probably damaging	1.00
R7787:Hyal6	UTSW	6	24,743,736 (GRCm38)	missense	probably damaging	0.99
R7851:Hyal6	UTSW	6	24,734,498 (GRCm38)	missense	probably benign	0.05
R8132:Hyal6	UTSW	6	24,740,828 (GRCm38)	missense	possibly damaging	0.80
R8200:Hyal6	UTSW	6	24,734,566 (GRCm38)	missense	probably benign	0.01
R8294:Hyal6	UTSW	6	24,734,379 (GRCm38)	missense	possibly damaging	0.53
R8300:Hyal6	UTSW	6	24,734,088 (GRCm38)	missense	probably benign
R8509:Hyal6	UTSW	6	24,734,606 (GRCm38)	missense	probably damaging	1.00
R8705:Hyal6	UTSW	6	24,734,674 (GRCm38)	missense	probably benign	0.01
R8917:Hyal6	UTSW	6	24,734,104 (GRCm38)	missense	possibly damaging	0.96
R9133:Hyal6	UTSW	6	24,734,586 (GRCm38)	missense	possibly damaging	0.61
R9149:Hyal6	UTSW	6	24,734,152 (GRCm38)	missense	probably benign	0.02
R9325:Hyal6	UTSW	6	24,743,456 (GRCm38)	missense	probably damaging	1.00
R9515:Hyal6	UTSW	6	24,734,930 (GRCm38)	nonsense	probably null
X0019:Hyal6	UTSW	6	24,734,667 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCACAGATGAACACAGCATTTGC -3'
(R):5'- TTCCGATCTCCACAAAGTGACAGC -3'

Sequencing Primer
(F):5'- GGATCTGTATGAAAATTCTAGTCCG -3'
(R):5'- GACAGCATCTGCAATGTCG -3'

Posted On

2015-03-23