Incidental Mutation 'IGL01412:Hapln3'
ID80059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hapln3
Ensembl Gene ENSMUSG00000030606
Gene Namehyaluronan and proteoglycan link protein 3
SynonymsLpr3, 4930554N11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL01412
Quality Score
Status
Chromosome7
Chromosomal Location79115102-79131018 bp(-) (GRCm38)
Type of Mutationintron (495 bp from exon)
DNA Base Change (assembly) G to A at 79117436 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032827] [ENSMUST00000032835] [ENSMUST00000205782] [ENSMUST00000206092]
Predicted Effect probably benign
Transcript: ENSMUST00000032827
SMART Domains Protein: ENSMUSP00000032827
Gene: ENSMUSG00000030606

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 unclassified 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
Posted On2013-11-05