Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01412:Hapln3'

80059

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

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL01412

Quality Score

Status

Chromosome

Chromosomal Location

79115102-79131018 bp(-) (GRCm38)

Type of Mutation

splice site (495 bp from exon)

DNA Base Change (assembly)

G to A at 79117436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145726 (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 null
Transcript: ENSMUST00000205782

Predicted Effect

probably damaging
Transcript: ENSMUST00000206092
AA Change: A285V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	G	A	15: 12,815,872	Q222*	probably null	Het
Adamts2	A	G	11: 50,795,403	E1016G	probably benign	Het
Agmo	G	A	12: 37,402,141	E269K	possibly damaging	Het
Agrn	A	T	4: 156,171,034		probably benign	Het
Alpk1	A	T	3: 127,679,972	L794Q	possibly damaging	Het
Asb14	T	A	14: 26,915,065	L588H	probably damaging	Het
Btbd16	A	T	7: 130,805,819		probably null	Het
Cacna1h	T	C	17: 25,391,950	K625E	probably benign	Het
Cdh23	T	C	10: 60,314,694	D2499G	probably damaging	Het
Cdhr2	A	T	13: 54,725,894	D687V	probably damaging	Het
Cops8	G	T	1: 90,604,431	L45F	possibly damaging	Het
D130043K22Rik	A	G	13: 24,887,860	H929R	probably damaging	Het
Dnah12	A	G	14: 26,771,005	E1241G	probably damaging	Het
Dock4	T	A	12: 40,730,041		probably benign	Het
Dsg1c	A	G	18: 20,247,461	I8V	probably benign	Het
Dst	T	C	1: 34,242,620	V5435A	probably benign	Het
Fat4	A	G	3: 38,891,181	I1408V	probably benign	Het
Fhit	G	T	14: 9,870,065	H72N	probably damaging	Het
Foxp2	C	A	6: 15,376,758		probably benign	Het
Fpgt	T	C	3: 155,086,722	Q556R	probably benign	Het
Galntl6	T	A	8: 57,777,294	E30V	probably damaging	Het
Gemin4	A	T	11: 76,213,485	V150D	probably benign	Het
Gm13101	A	C	4: 143,964,995	V386G	probably damaging	Het
Grm8	C	T	6: 27,762,461	R255H	probably damaging	Het
Htt	T	A	5: 34,898,572	L2609Q	probably damaging	Het
Igdcc4	A	G	9: 65,114,449		probably benign	Het
Isx	T	C	8: 74,892,678	L166P	probably benign	Het
Kcnt2	G	A	1: 140,570,417	M884I	probably benign	Het
Leo1	A	G	9: 75,466,242	N650D	probably benign	Het
Man1a	A	G	10: 54,074,714	V195A	probably benign	Het
Map2k5	A	T	9: 63,293,706	I215N	probably damaging	Het
Mier2	A	G	10: 79,541,180	*542R	probably null	Het
Mrgbp	T	A	2: 180,583,416	F55Y	probably damaging	Het
Mum1	T	A	10: 80,234,329		probably null	Het
Nadsyn1	A	T	7: 143,808,790		probably null	Het
Nedd9	A	T	13: 41,315,786	Y630*	probably null	Het
Nrp1	T	C	8: 128,418,707		probably benign	Het
Olfr1141	A	T	2: 87,753,117	L292Q	probably damaging	Het
Olfr617	A	G	7: 103,584,907	N295S	probably damaging	Het
Olfr638	T	A	7: 104,003,635	M120K	probably damaging	Het
Olfr725	A	G	14: 50,035,313	I30T	probably benign	Het
Olfr836	T	A	9: 19,121,599	C212S	probably benign	Het
Pcnx	A	T	12: 81,906,465	I127F	probably damaging	Het
Pik3ap1	T	C	19: 41,375,890	E130G	possibly damaging	Het
Pkd1l1	G	T	11: 8,950,409	T44N	possibly damaging	Het
Polr1c	A	G	17: 46,244,209	S226P	probably damaging	Het
Prep	A	G	10: 45,153,112	Y536C	probably damaging	Het
Ptprb	A	G	10: 116,343,915	T1413A	probably benign	Het
Ryr2	T	A	13: 11,742,036	K1577N	probably benign	Het
Selplg	G	T	5: 113,819,468	T33K	probably damaging	Het
Slc26a5	T	A	5: 21,815,736	I505L	probably damaging	Het
Slc39a6	T	C	18: 24,585,356	N548S	probably damaging	Het
Sp7	T	C	15: 102,359,363	T3A	possibly damaging	Het
Tango6	T	C	8: 106,818,499	V998A	probably benign	Het
Tas2r130	A	T	6: 131,630,510	Y107*	probably null	Het
Tjp2	T	C	19: 24,100,775	E918G	probably damaging	Het
Trim12a	C	T	7: 104,306,995	A113T	probably benign	Het
Zan	T	A	5: 137,393,032	D4730V	unknown	Het
Zfp607a	A	T	7: 27,878,684	D393V	probably damaging	Het

Other mutations in Hapln3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Hapln3	APN	7	79121983	missense	probably damaging	1.00
IGL02141:Hapln3	APN	7	79118145	missense	probably damaging	0.99
IGL02675:Hapln3	APN	7	79117848	critical splice donor site	probably null
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
R9723:Hapln3	UTSW	7	79121988	missense	possibly damaging	0.95

Posted On

2013-11-05