Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02943:Hyal6'

364598

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hyal6

Ensembl Gene

ENSMUSG00000029679

Gene Name

hyaluronoglucosaminidase 6

Synonyms

Hyal-ps1, 4932701A20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02943

Quality Score

Status

Chromosome

Chromosomal Location

24733244-24745451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24743438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 378 (V378E)

Ref Sequence

ENSEMBL: ENSMUSP00000031690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031690] [ENSMUST00000031691]

AlphaFold

Q9D4E9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031690
AA Change: V378E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: V378E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031691

SMART Domains

Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	T	A	1: 87,054,091 (GRCm39)	Y236*	probably null	Het
Ankrd13c	C	T	3: 157,653,564 (GRCm39)	T134M	probably damaging	Het
Arhgef18	T	C	8: 3,498,553 (GRCm39)	S529P	probably damaging	Het
Cdkl2	T	A	5: 92,185,103 (GRCm39)	N96I	possibly damaging	Het
Cep57	A	T	9: 13,730,149 (GRCm39)		probably benign	Het
Chchd7	T	C	4: 3,942,796 (GRCm39)	Y44H	probably damaging	Het
Ciart	T	C	3: 95,786,314 (GRCm39)	I254V	possibly damaging	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dlgap5	A	G	14: 47,650,433 (GRCm39)		probably null	Het
Ednra	T	A	8: 78,446,683 (GRCm39)	I132F	probably damaging	Het
En2	T	C	5: 28,371,524 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,846,613 (GRCm39)	R1102G	probably damaging	Het
Fsip2	C	A	2: 82,822,701 (GRCm39)	Q6145K	probably benign	Het
Galnt5	A	T	2: 57,889,780 (GRCm39)	D460V	probably damaging	Het
Gm6401	C	T	14: 41,788,851 (GRCm39)	E73K	possibly damaging	Het
Gpr84	T	C	15: 103,217,316 (GRCm39)	I254V	probably benign	Het
Hacd3	A	T	9: 64,897,718 (GRCm39)	I298N	probably damaging	Het
Il20rb	G	T	9: 100,348,305 (GRCm39)	H210N	probably benign	Het
Iqgap2	A	G	13: 95,798,243 (GRCm39)		probably benign	Het
Itga1	C	T	13: 115,185,832 (GRCm39)	E57K	possibly damaging	Het
Jmjd1c	T	A	10: 67,055,433 (GRCm39)	D571E	probably damaging	Het
Kmt2c	T	C	5: 25,495,821 (GRCm39)	S623G	probably damaging	Het
L3mbtl2	T	A	15: 81,570,456 (GRCm39)	S645T	possibly damaging	Het
Lrp2	A	G	2: 69,285,854 (GRCm39)	V3779A	possibly damaging	Het
Lrpprc	T	C	17: 85,078,878 (GRCm39)	R279G	probably benign	Het
Lurap1l	A	G	4: 80,871,872 (GRCm39)	K122E	probably damaging	Het
Met	T	C	6: 17,535,928 (GRCm39)	Y785H	possibly damaging	Het
Myh3	T	C	11: 66,981,891 (GRCm39)	F796L	probably benign	Het
Myo16	T	C	8: 10,450,595 (GRCm39)		probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,068,974 (GRCm39)	C292R	probably damaging	Het
Nmnat1	A	G	4: 149,557,745 (GRCm39)	L99P	probably damaging	Het
Or1j12	A	T	2: 36,343,051 (GRCm39)	L151F	probably benign	Het
Or5p64	A	G	7: 107,854,623 (GRCm39)	F241L	possibly damaging	Het
Pclo	T	C	5: 14,719,235 (GRCm39)	V1124A	unknown	Het
Phf20l1	A	G	15: 66,466,733 (GRCm39)	Y54C	probably damaging	Het
Postn	T	C	3: 54,285,029 (GRCm39)		probably null	Het
Ppp2r1b	A	G	9: 50,794,885 (GRCm39)	D570G	probably damaging	Het
Prdm2	A	C	4: 142,858,542 (GRCm39)	S1583A	probably benign	Het
Proser1	T	C	3: 53,386,524 (GRCm39)	V802A	probably damaging	Het
Ptprc	A	T	1: 138,027,251 (GRCm39)	N532K	probably damaging	Het
Ptprk	A	G	10: 28,351,172 (GRCm39)	H555R	possibly damaging	Het
Ranbp6	T	C	19: 29,789,524 (GRCm39)	D276G	possibly damaging	Het
Rasgrf2	A	G	13: 92,131,752 (GRCm39)	V635A	probably damaging	Het
Rbm5	T	C	9: 107,621,542 (GRCm39)	Y620C	probably damaging	Het
Sall1	C	T	8: 89,757,749 (GRCm39)	R785H	probably damaging	Het
Slc22a2	G	T	17: 12,828,948 (GRCm39)	L351F	probably damaging	Het
Sorcs3	A	T	19: 48,748,377 (GRCm39)	Q782L	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tas2r107	T	A	6: 131,636,369 (GRCm39)	M227L	probably damaging	Het
Tecpr2	C	T	12: 110,934,183 (GRCm39)	T1281I	probably benign	Het
Topbp1	T	A	9: 103,205,639 (GRCm39)	V759E	probably benign	Het
Trim2	T	C	3: 84,085,483 (GRCm39)	T504A	probably benign	Het
Trpc1	A	G	9: 95,590,906 (GRCm39)		probably benign	Het
Tssk4	T	A	14: 55,889,023 (GRCm39)	V183E	probably damaging	Het
Vmn1r202	T	C	13: 22,686,364 (GRCm39)	T18A	probably benign	Het
Vmn1r225	T	C	17: 20,722,567 (GRCm39)	S3P	possibly damaging	Het
Vmn2r101	T	A	17: 19,831,666 (GRCm39)	V554E	probably damaging	Het
Vps13a	T	C	19: 16,641,250 (GRCm39)	I2291V	probably damaging	Het
Vps39	A	G	2: 120,169,968 (GRCm39)	S195P	possibly damaging	Het
Zfand4	T	A	6: 116,250,837 (GRCm39)		probably benign	Het

Other mutations in Hyal6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Hyal6	APN	6	24,734,178 (GRCm39)	missense	probably damaging	1.00
IGL02269:Hyal6	APN	6	24,740,858 (GRCm39)	missense	probably damaging	0.97
IGL02729:Hyal6	APN	6	24,734,694 (GRCm39)	missense	probably damaging	1.00
IGL02793:Hyal6	APN	6	24,734,378 (GRCm39)	nonsense	probably null
IGL03351:Hyal6	APN	6	24,743,428 (GRCm39)	missense	probably damaging	1.00
R0481:Hyal6	UTSW	6	24,743,417 (GRCm39)	missense	probably damaging	1.00
R0517:Hyal6	UTSW	6	24,734,852 (GRCm39)	missense	probably benign
R0853:Hyal6	UTSW	6	24,734,072 (GRCm39)	missense	probably benign
R1182:Hyal6	UTSW	6	24,743,416 (GRCm39)	missense	probably damaging	1.00
R1401:Hyal6	UTSW	6	24,743,434 (GRCm39)	missense	probably damaging	1.00
R1780:Hyal6	UTSW	6	24,734,031 (GRCm39)	splice site	probably benign
R1858:Hyal6	UTSW	6	24,740,857 (GRCm39)	missense	probably benign	0.01
R2011:Hyal6	UTSW	6	24,734,723 (GRCm39)	missense	possibly damaging	0.69
R3441:Hyal6	UTSW	6	24,734,592 (GRCm39)	missense	probably benign
R4819:Hyal6	UTSW	6	24,734,965 (GRCm39)	nonsense	probably null
R5357:Hyal6	UTSW	6	24,734,517 (GRCm39)	missense	probably benign	0.05
R5648:Hyal6	UTSW	6	24,734,235 (GRCm39)	missense	possibly damaging	0.61
R5717:Hyal6	UTSW	6	24,743,690 (GRCm39)	missense	probably benign	0.15
R5884:Hyal6	UTSW	6	24,743,368 (GRCm39)	missense	probably damaging	1.00
R6657:Hyal6	UTSW	6	24,734,757 (GRCm39)	missense	possibly damaging	0.61
R6826:Hyal6	UTSW	6	24,734,371 (GRCm39)	missense	probably damaging	1.00
R7178:Hyal6	UTSW	6	24,734,834 (GRCm39)	missense	probably benign	0.28
R7531:Hyal6	UTSW	6	24,740,786 (GRCm39)	missense	possibly damaging	0.46
R7630:Hyal6	UTSW	6	24,734,583 (GRCm39)	missense	probably damaging	1.00
R7787:Hyal6	UTSW	6	24,743,735 (GRCm39)	missense	probably damaging	0.99
R7851:Hyal6	UTSW	6	24,734,497 (GRCm39)	missense	probably benign	0.05
R8132:Hyal6	UTSW	6	24,740,827 (GRCm39)	missense	possibly damaging	0.80
R8200:Hyal6	UTSW	6	24,734,565 (GRCm39)	missense	probably benign	0.01
R8294:Hyal6	UTSW	6	24,734,378 (GRCm39)	missense	possibly damaging	0.53
R8300:Hyal6	UTSW	6	24,734,087 (GRCm39)	missense	probably benign
R8509:Hyal6	UTSW	6	24,734,605 (GRCm39)	missense	probably damaging	1.00
R8705:Hyal6	UTSW	6	24,734,673 (GRCm39)	missense	probably benign	0.01
R8917:Hyal6	UTSW	6	24,734,103 (GRCm39)	missense	possibly damaging	0.96
R9133:Hyal6	UTSW	6	24,734,585 (GRCm39)	missense	possibly damaging	0.61
R9149:Hyal6	UTSW	6	24,734,151 (GRCm39)	missense	probably benign	0.02
R9325:Hyal6	UTSW	6	24,743,455 (GRCm39)	missense	probably damaging	1.00
R9515:Hyal6	UTSW	6	24,734,929 (GRCm39)	nonsense	probably null
X0019:Hyal6	UTSW	6	24,734,666 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18