Incidental Mutation 'IGL02953:Habp2'
ID365019
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Habp2
Ensembl Gene ENSMUSG00000025075
Gene Namehyaluronic acid binding protein 2
SynonymsFSAP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02953
Quality Score
Status
Chromosome19
Chromosomal Location56287137-56320822 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 56314232 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078284] [ENSMUST00000095948] [ENSMUST00000163502] [ENSMUST00000165522] [ENSMUST00000166049] [ENSMUST00000171341]
Predicted Effect probably null
Transcript: ENSMUST00000078284
SMART Domains Protein: ENSMUSP00000077402
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 28 42 N/A INTRINSIC
EGF 70 103 4.66e-6 SMART
EGF 108 142 3.97e0 SMART
EGF 147 182 2.26e-4 SMART
KR 186 272 2.72e-39 SMART
Tryp_SPc 307 544 1.47e-90 SMART
Predicted Effect probably null
Transcript: ENSMUST00000095948
SMART Domains Protein: ENSMUSP00000093641
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EGF 33 66 4.66e-6 SMART
EGF 71 105 3.97e0 SMART
EGF 110 145 2.26e-4 SMART
KR 149 235 2.72e-39 SMART
Tryp_SPc 270 507 1.47e-90 SMART
Predicted Effect probably null
Transcript: ENSMUST00000163502
SMART Domains Protein: ENSMUSP00000128964
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
KR 1 41 5.87e-6 SMART
Tryp_SPc 76 220 5.6e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165407
Predicted Effect probably benign
Transcript: ENSMUST00000165522
SMART Domains Protein: ENSMUSP00000130809
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
Pfam:Trypsin 41 106 6.4e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000166049
SMART Domains Protein: ENSMUSP00000132444
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 28 42 N/A INTRINSIC
EGF 70 103 4.66e-6 SMART
EGF 108 142 3.97e0 SMART
EGF 147 182 2.26e-4 SMART
KR 186 272 2.72e-39 SMART
Tryp_SPc 302 539 1.47e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171341
SMART Domains Protein: ENSMUSP00000126235
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 28 42 N/A INTRINSIC
EGF 70 103 4.66e-6 SMART
EGF 108 142 3.97e0 SMART
EGF 147 182 2.26e-4 SMART
KR 186 272 2.72e-39 SMART
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 encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased lethality but increased liver fibrosis, inflammation and injury following bile duct ligation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,773,646 S169P possibly damaging Het
Adap2 G A 11: 80,154,300 G29R probably damaging Het
Adcy2 A T 13: 68,729,328 I431N probably damaging Het
Amer3 T C 1: 34,587,796 V372A probably damaging Het
Aspm T A 1: 139,457,419 V267D probably benign Het
Atp6v0b A T 4: 117,885,222 V111E probably damaging Het
Clmp T A 9: 40,774,387 L193Q probably damaging Het
Dcaf7 T G 11: 106,051,876 Y216* probably null Het
Dcbld2 T A 16: 58,451,737 D385E probably benign Het
Des T A 1: 75,363,644 D398E possibly damaging Het
Fancm C T 12: 65,121,966 T1701I probably benign Het
Fat1 C A 8: 45,024,314 D2132E probably damaging Het
Fkbp14 T C 6: 54,579,682 K161R probably damaging Het
Fopnl T C 16: 14,304,475 K142E probably benign Het
Fuca2 C T 10: 13,507,429 probably benign Het
Gm4763 C T 7: 24,723,566 C109Y probably damaging Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Herc3 C T 6: 58,857,733 Q242* probably null Het
Igkv4-81 T C 6: 68,990,997 K40R probably benign Het
Irf5 C A 6: 29,536,672 H461N possibly damaging Het
Nav2 G A 7: 49,548,423 V1267M probably damaging Het
Nlk A G 11: 78,626,701 V155A probably benign Het
Nup214 C T 2: 31,988,229 H303Y possibly damaging Het
Pld1 A C 3: 28,112,247 M812L probably benign Het
Rab11fip3 C A 17: 26,067,679 R500L possibly damaging Het
Secisbp2l C T 2: 125,760,274 E389K probably benign Het
Serpina3a C T 12: 104,116,489 R174C probably benign Het
Spef2 T C 15: 9,713,243 R405G possibly damaging Het
Srpx A T X: 10,117,467 probably benign Het
St18 T A 1: 6,844,113 probably benign Het
Tcerg1 C T 18: 42,548,470 P561S probably damaging Het
Topbp1 T A 9: 103,328,435 N757K probably benign Het
Trrap G T 5: 144,815,964 L1782F probably damaging Het
Tut1 G T 19: 8,962,692 V347L probably damaging Het
Txnip T A 3: 96,558,366 V44D probably damaging Het
Usp8 C T 2: 126,737,937 T369I probably benign Het
Zzef1 A G 11: 72,855,398 N842S probably benign Het
Other mutations in Habp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Habp2 APN 19 56317832 missense probably damaging 1.00
IGL01113:Habp2 APN 19 56310116 missense probably benign 0.13
IGL01737:Habp2 APN 19 56316307 missense probably benign 0.00
IGL02174:Habp2 APN 19 56311737 missense probably damaging 0.96
IGL02250:Habp2 APN 19 56308929 missense probably benign 0.00
IGL02706:Habp2 APN 19 56310138 critical splice donor site probably null
IGL02986:Habp2 APN 19 56311192 missense probably benign 0.25
IGL03010:Habp2 APN 19 56311223 critical splice donor site probably null
R0415:Habp2 UTSW 19 56317717 unclassified probably benign
R0483:Habp2 UTSW 19 56316432 unclassified probably benign
R0627:Habp2 UTSW 19 56314046 missense probably damaging 1.00
R1188:Habp2 UTSW 19 56311722 missense probably benign 0.39
R1880:Habp2 UTSW 19 56317828 missense possibly damaging 0.83
R2214:Habp2 UTSW 19 56317817 missense possibly damaging 0.88
R2473:Habp2 UTSW 19 56288032 missense possibly damaging 0.92
R2869:Habp2 UTSW 19 56287991 unclassified probably benign
R2871:Habp2 UTSW 19 56287991 unclassified probably benign
R3917:Habp2 UTSW 19 56311179 missense probably damaging 1.00
R3969:Habp2 UTSW 19 56311701 missense probably damaging 1.00
R4014:Habp2 UTSW 19 56319622 missense probably benign 0.04
R4853:Habp2 UTSW 19 56311191 unclassified probably null
R5835:Habp2 UTSW 19 56306786 missense probably benign 0.16
R6270:Habp2 UTSW 19 56306863 missense possibly damaging 0.93
R6390:Habp2 UTSW 19 56306823 missense possibly damaging 0.63
R7110:Habp2 UTSW 19 56311164 nonsense probably null
R7268:Habp2 UTSW 19 56314086 missense probably damaging 1.00
R7456:Habp2 UTSW 19 56319525 missense probably damaging 1.00
Posted On2015-12-18