Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02675:Hapln3'

303111

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hapln3

Ensembl Gene

ENSMUSG00000030606

Gene Name

hyaluronan and proteoglycan link protein 3

Synonyms

Lpr3, 4930554N11Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL02675

Quality Score

Status

Chromosome

Chromosomal Location

79115102-79131018 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 79117848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032827] [ENSMUST00000032835] [ENSMUST00000205782] [ENSMUST00000206092]

AlphaFold

Q80WM5

Predicted Effect

probably benign
Transcript: ENSMUST00000032827

SMART Domains

Protein: ENSMUSP00000032827
Gene: ENSMUSG00000030606

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IGv	65	148	3.28e-8	SMART
LINK	164	261	1.78e-46	SMART
LINK	265	357	3.14e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000032835

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	46	135	3.46e-7	SMART
LINK	151	248	1.76e-59	SMART
LINK	252	350	4.13e-65	SMART
LINK	485	582	1.03e-51	SMART
LINK	586	684	9.58e-61	SMART
low complexity region	767	794	N/A	INTRINSIC
low complexity region	845	859	N/A	INTRINSIC
low complexity region	890	904	N/A	INTRINSIC
low complexity region	913	930	N/A	INTRINSIC
low complexity region	966	987	N/A	INTRINSIC
low complexity region	1455	1468	N/A	INTRINSIC
low complexity region	1484	1495	N/A	INTRINSIC
low complexity region	1707	1720	N/A	INTRINSIC
low complexity region	1808	1823	N/A	INTRINSIC
low complexity region	1904	1915	N/A	INTRINSIC
CLECT	1922	2043	2.13e-37	SMART
CCP	2049	2105	9.32e-11	SMART
low complexity region	2118	2130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205782

Predicted Effect

probably null
Transcript: ENSMUST00000206092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206402

Predicted Effect

probably benign
Transcript: ENSMUST00000206779

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano8	A	G	8: 71,483,540	I204T	probably damaging	Het
Anxa8	A	G	14: 34,093,414	D150G	probably damaging	Het
Arel1	T	C	12: 84,930,228	T438A	probably damaging	Het
Asphd1	T	C	7: 126,946,834		probably benign	Het
Bcl2l12	A	T	7: 44,991,400		probably benign	Het
Cand1	A	G	10: 119,219,697	I87T	probably damaging	Het
Ccdc80	A	C	16: 45,116,332	T707P	probably damaging	Het
Cdh9	T	A	15: 16,849,076		probably null	Het
Chrd	T	C	16: 20,739,949		probably benign	Het
Cpn1	T	C	19: 43,980,930	Q98R	probably benign	Het
D630045J12Rik	A	G	6: 38,195,485	S583P	possibly damaging	Het
Dnah7a	A	G	1: 53,504,024	I2329T	possibly damaging	Het
Egln3	A	G	12: 54,203,210	S118P	probably benign	Het
Gfra1	G	A	19: 58,453,355	T48I	probably damaging	Het
Heatr3	T	C	8: 88,144,557	F180L	possibly damaging	Het
Herc2	T	A	7: 56,164,101	S2661T	probably damaging	Het
Hook3	A	T	8: 26,061,434	L126Q	possibly damaging	Het
Hoxd8	T	G	2: 74,706,586	L214R	probably damaging	Het
Ifna1	T	G	4: 88,850,433	L116R	probably damaging	Het
Il31ra	T	A	13: 112,524,352	T487S	probably benign	Het
Kifc2	C	T	15: 76,662,979	R252W	probably damaging	Het
Meox2	A	G	12: 37,178,334	D290G	probably damaging	Het
Micu2	A	G	14: 57,945,377		probably benign	Het
Myh9	T	C	15: 77,788,930	T406A	possibly damaging	Het
Naip1	T	A	13: 100,409,118	M1301L	probably benign	Het
Pbrm1	T	C	14: 31,106,287	L1341P	possibly damaging	Het
Pcna-ps2	C	A	19: 9,283,959	A194E	probably benign	Het
Pdcd10	G	A	3: 75,527,594	T130I	probably damaging	Het
Pprc1	G	A	19: 46,063,507	G491D	probably damaging	Het
Prss57	A	G	10: 79,787,475	V46A	probably benign	Het
Ptcd3	A	G	6: 71,883,442		probably null	Het
Riok1	C	T	13: 38,050,243	P262S	probably damaging	Het
Rnf13	A	G	3: 57,779,396	N70S	probably benign	Het
Skint7	T	A	4: 111,981,981	D157E	probably benign	Het
Sri	T	C	5: 8,067,534	F191S	probably damaging	Het
Stat5b	T	C	11: 100,787,374	R638G	probably benign	Het
Suds3	C	T	5: 117,094,905		probably null	Het
Tmem19	A	G	10: 115,342,573	L281P	probably damaging	Het
Tmf1	A	G	6: 97,164,042		probably benign	Het
Trio	A	G	15: 27,768,039		probably benign	Het
Usp28	T	C	9: 49,039,091	I940T	possibly damaging	Het
Wisp3	A	G	10: 39,151,240	V332A	possibly damaging	Het
Zfp280d	T	A	9: 72,312,222	I227K	probably benign	Het
Zfp335	A	G	2: 164,910,689	V45A	probably benign	Het

Other mutations in Hapln3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Hapln3	APN	7	79121983	missense	probably damaging	1.00
IGL01412:Hapln3	APN	7	79117436	splice site	probably null
IGL02141:Hapln3	APN	7	79118145	missense	probably damaging	0.99
IGL02864:Hapln3	APN	7	79118064	missense	probably benign	0.03
IGL02894:Hapln3	APN	7	79121773	missense	probably benign	0.03
R1271:Hapln3	UTSW	7	79118016	missense	probably damaging	1.00
R1337:Hapln3	UTSW	7	79118076	missense	probably benign	0.06
R1351:Hapln3	UTSW	7	79121960	missense	probably damaging	1.00
R1686:Hapln3	UTSW	7	79121890	missense	probably benign	0.13
R1718:Hapln3	UTSW	7	79123450	missense	unknown
R3103:Hapln3	UTSW	7	79121736	missense	probably benign	0.07
R5625:Hapln3	UTSW	7	79117258	splice site	probably null
R5669:Hapln3	UTSW	7	79117496	splice site	probably null
R5862:Hapln3	UTSW	7	79121891	missense	possibly damaging	0.84
R5875:Hapln3	UTSW	7	79121973	missense	probably benign	0.03
R7129:Hapln3	UTSW	7	79121824	missense	probably damaging	1.00
R7439:Hapln3	UTSW	7	79117269	missense	probably benign	0.00
R7713:Hapln3	UTSW	7	79117373	missense	probably benign	0.00
R8894:Hapln3	UTSW	7	79117491	missense	probably benign	0.00
R8896:Hapln3	UTSW	7	79117491	missense	probably benign	0.00
R8933:Hapln3	UTSW	7	79117630	unclassified	probably benign
R9114:Hapln3	UTSW	7	79121964	missense	probably benign	0.00
R9367:Hapln3	UTSW	7	79121707	missense	probably damaging	0.98

Posted On

2015-04-16