Incidental Mutation 'IGL02560:Hhip'
ID298205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hhip
Ensembl Gene ENSMUSG00000064325
Gene NameHedgehog-interacting protein
SynonymsHip, Hhip1, Hip1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02560
Quality Score
Status
Chromosome8
Chromosomal Location79965851-80058006 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 79987009 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 563 (Y563N)
Ref Sequence ENSEMBL: ENSMUSP00000078047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079038]
Predicted Effect probably damaging
Transcript: ENSMUST00000079038
AA Change: Y563N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078047
Gene: ENSMUSG00000064325
AA Change: Y563N

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Folate_rec 38 220 4.9e-26 PFAM
Pfam:GSDH 226 444 3e-22 PFAM
EGF 593 635 9.63e0 SMART
EGF 638 667 2.35e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155850
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 hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a reporter allele die shortly after birth due to respiratory failure, show defects in lung, spleen and pancreas morphogenesis, and exhibit small and disorganized pancreatic islets and reduced beta-cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230019H11Rik A G 10: 3,125,866 noncoding transcript Het
Ano4 C T 10: 88,978,741 W660* probably null Het
Atp9b T C 18: 80,762,198 D715G probably benign Het
Catsper1 T C 19: 5,336,188 S150P possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cldn19 G A 4: 119,255,724 W51* probably null Het
Ddx31 T C 2: 28,875,826 I512T probably damaging Het
Dsc2 G T 18: 20,045,539 D269E probably damaging Het
Dsg1b T C 18: 20,409,178 V914A possibly damaging Het
Etl4 A G 2: 20,743,718 E420G probably damaging Het
Foxa2 A G 2: 148,044,031 L113P probably benign Het
Gm6034 T G 17: 36,056,464 probably benign Het
Gtf3c4 A T 2: 28,834,267 Y343* probably null Het
Ighg2c A T 12: 113,287,884 C208S unknown Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Myb A T 10: 21,152,448 L172Q probably damaging Het
Nipal3 A T 4: 135,479,704 Y60N probably damaging Het
Npas2 A T 1: 39,333,961 probably benign Het
Olfr1008 T A 2: 85,689,519 V30D possibly damaging Het
Olfr1089 A T 2: 86,733,234 I126N probably damaging Het
Olfr196 G T 16: 59,167,528 S205* probably null Het
Pdxdc1 T C 16: 13,839,732 D532G probably benign Het
Pwp2 T C 10: 78,179,065 S362G probably damaging Het
Senp5 A G 16: 31,989,392 V348A probably benign Het
Slc25a37 T C 14: 69,245,292 T187A probably benign Het
Svil A G 18: 5,049,379 I219V probably benign Het
Tcf4 A G 18: 69,643,022 probably benign Het
Tex15 T C 8: 33,581,751 V2442A probably benign Het
Tomm70a T C 16: 57,149,849 L530S probably benign Het
Wscd2 A T 5: 113,560,984 D200V probably benign Het
Zfp952 C T 17: 33,002,819 Q53* probably null Het
Other mutations in Hhip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Hhip APN 8 79996783 missense probably damaging 0.96
IGL03046:Hhip UTSW 8 79972338 missense probably damaging 0.99
R0068:Hhip UTSW 8 79989256 missense probably damaging 1.00
R0356:Hhip UTSW 8 79997492 missense probably benign 0.20
R0707:Hhip UTSW 8 79998255 missense probably damaging 1.00
R1163:Hhip UTSW 8 79992476 missense probably damaging 1.00
R1583:Hhip UTSW 8 79990276 missense probably damaging 1.00
R1900:Hhip UTSW 8 79975046 missense probably benign 0.15
R2071:Hhip UTSW 8 80057302 missense probably benign 0.00
R2255:Hhip UTSW 8 80045181 missense probably damaging 0.98
R3847:Hhip UTSW 8 79997495 missense probably benign 0.00
R4012:Hhip UTSW 8 79992594 missense probably damaging 1.00
R4448:Hhip UTSW 8 80043945 critical splice donor site probably null
R4607:Hhip UTSW 8 79997563 missense probably damaging 0.99
R4608:Hhip UTSW 8 79997563 missense probably damaging 0.99
R4677:Hhip UTSW 8 80045097 missense probably damaging 0.96
R4738:Hhip UTSW 8 79992570 missense probably damaging 0.98
R5040:Hhip UTSW 8 79997606 missense probably benign 0.00
R5371:Hhip UTSW 8 79997591 missense probably damaging 0.98
R5594:Hhip UTSW 8 79996863 missense probably damaging 1.00
R5785:Hhip UTSW 8 79998192 missense possibly damaging 0.84
R6026:Hhip UTSW 8 79972440 missense probably damaging 1.00
R6259:Hhip UTSW 8 79972404 missense probably damaging 1.00
R6782:Hhip UTSW 8 80051604 missense probably damaging 1.00
R7105:Hhip UTSW 8 79975009 missense probably benign 0.04
R7134:Hhip UTSW 8 79992513 missense probably benign
R7238:Hhip UTSW 8 79987012 missense probably benign
R7828:Hhip UTSW 8 79998208 missense probably benign 0.00
X0026:Hhip UTSW 8 79992560 missense possibly damaging 0.93
Z1177:Hhip UTSW 8 80057251 frame shift probably null
Posted On2015-04-16