Incidental Mutation 'IGL02560:Hhip'
ID 298205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hhip
Ensembl Gene ENSMUSG00000064325
Gene Name Hedgehog-interacting protein
Synonyms Hip1, Hip, Hhip1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02560
Quality Score
Status
Chromosome 8
Chromosomal Location 80692480-80784635 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80713638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 563 (Y563N)
Ref Sequence ENSEMBL: ENSMUSP00000078047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079038]
AlphaFold Q7TN16
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
Ano4 C T 10: 88,814,603 (GRCm39) W660* probably null Het
Atp9b T C 18: 80,805,413 (GRCm39) D715G probably benign Het
Catsper1 T C 19: 5,386,216 (GRCm39) S150P possibly damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cldn19 G A 4: 119,112,921 (GRCm39) W51* probably null Het
Ddx31 T C 2: 28,765,838 (GRCm39) I512T probably damaging Het
Dsc2 G T 18: 20,178,596 (GRCm39) D269E probably damaging Het
Dsg1b T C 18: 20,542,235 (GRCm39) V914A possibly damaging Het
Etl4 A G 2: 20,748,529 (GRCm39) E420G probably damaging Het
Foxa2 A G 2: 147,885,951 (GRCm39) L113P probably benign Het
Gm6034 T G 17: 36,367,356 (GRCm39) probably benign Het
Gtf3c4 A T 2: 28,724,279 (GRCm39) Y343* probably null Het
Ighg2c A T 12: 113,251,504 (GRCm39) C208S unknown Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Myb A T 10: 21,028,347 (GRCm39) L172Q probably damaging Het
Nipal3 A T 4: 135,207,015 (GRCm39) Y60N probably damaging Het
Npas2 A T 1: 39,373,042 (GRCm39) probably benign Het
Or5h26 G T 16: 58,987,891 (GRCm39) S205* probably null Het
Or8k16 T A 2: 85,519,863 (GRCm39) V30D possibly damaging Het
Or8k39 A T 2: 86,563,578 (GRCm39) I126N probably damaging Het
Pdxdc1 T C 16: 13,657,596 (GRCm39) D532G probably benign Het
Pwp2 T C 10: 78,014,899 (GRCm39) S362G probably damaging Het
Senp5 A G 16: 31,808,210 (GRCm39) V348A probably benign Het
Slc25a37 T C 14: 69,482,741 (GRCm39) T187A probably benign Het
Svil A G 18: 5,049,379 (GRCm39) I219V probably benign Het
Tcf4 A G 18: 69,776,093 (GRCm39) probably benign Het
Tex15 T C 8: 34,071,779 (GRCm39) V2442A probably benign Het
Tomm70a T C 16: 56,970,212 (GRCm39) L530S probably benign Het
Ulbp3 A G 10: 3,075,866 (GRCm39) noncoding transcript Het
Wscd2 A T 5: 113,699,045 (GRCm39) D200V probably benign Het
Zfp952 C T 17: 33,221,793 (GRCm39) Q53* probably null Het
Other mutations in Hhip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Hhip APN 8 80,723,412 (GRCm39) missense probably damaging 0.96
IGL03046:Hhip UTSW 8 80,698,967 (GRCm39) missense probably damaging 0.99
R0068:Hhip UTSW 8 80,715,885 (GRCm39) missense probably damaging 1.00
R0356:Hhip UTSW 8 80,724,121 (GRCm39) missense probably benign 0.20
R0707:Hhip UTSW 8 80,724,884 (GRCm39) missense probably damaging 1.00
R1163:Hhip UTSW 8 80,719,105 (GRCm39) missense probably damaging 1.00
R1583:Hhip UTSW 8 80,716,905 (GRCm39) missense probably damaging 1.00
R1900:Hhip UTSW 8 80,701,675 (GRCm39) missense probably benign 0.15
R2071:Hhip UTSW 8 80,783,931 (GRCm39) missense probably benign 0.00
R2255:Hhip UTSW 8 80,771,810 (GRCm39) missense probably damaging 0.98
R3847:Hhip UTSW 8 80,724,124 (GRCm39) missense probably benign 0.00
R4012:Hhip UTSW 8 80,719,223 (GRCm39) missense probably damaging 1.00
R4448:Hhip UTSW 8 80,770,574 (GRCm39) critical splice donor site probably null
R4607:Hhip UTSW 8 80,724,192 (GRCm39) missense probably damaging 0.99
R4608:Hhip UTSW 8 80,724,192 (GRCm39) missense probably damaging 0.99
R4677:Hhip UTSW 8 80,771,726 (GRCm39) missense probably damaging 0.96
R4738:Hhip UTSW 8 80,719,199 (GRCm39) missense probably damaging 0.98
R5040:Hhip UTSW 8 80,724,235 (GRCm39) missense probably benign 0.00
R5371:Hhip UTSW 8 80,724,220 (GRCm39) missense probably damaging 0.98
R5594:Hhip UTSW 8 80,723,492 (GRCm39) missense probably damaging 1.00
R5785:Hhip UTSW 8 80,724,821 (GRCm39) missense possibly damaging 0.84
R6026:Hhip UTSW 8 80,699,069 (GRCm39) missense probably damaging 1.00
R6259:Hhip UTSW 8 80,699,033 (GRCm39) missense probably damaging 1.00
R6782:Hhip UTSW 8 80,778,233 (GRCm39) missense probably damaging 1.00
R7105:Hhip UTSW 8 80,701,638 (GRCm39) missense probably benign 0.04
R7134:Hhip UTSW 8 80,719,142 (GRCm39) missense probably benign
R7238:Hhip UTSW 8 80,713,641 (GRCm39) missense probably benign
R7828:Hhip UTSW 8 80,724,837 (GRCm39) missense probably benign 0.00
R8418:Hhip UTSW 8 80,771,714 (GRCm39) missense probably damaging 0.99
R8814:Hhip UTSW 8 80,778,101 (GRCm39) missense probably damaging 1.00
R8947:Hhip UTSW 8 80,771,785 (GRCm39) missense probably damaging 0.97
R9101:Hhip UTSW 8 80,770,591 (GRCm39) missense probably damaging 1.00
R9163:Hhip UTSW 8 80,701,743 (GRCm39) missense probably benign 0.00
R9355:Hhip UTSW 8 80,778,233 (GRCm39) missense probably damaging 1.00
R9397:Hhip UTSW 8 80,719,112 (GRCm39) missense probably benign
R9673:Hhip UTSW 8 80,719,108 (GRCm39) missense probably damaging 1.00
R9685:Hhip UTSW 8 80,723,363 (GRCm39) missense probably damaging 1.00
X0026:Hhip UTSW 8 80,719,189 (GRCm39) missense possibly damaging 0.93
Z1177:Hhip UTSW 8 80,783,880 (GRCm39) frame shift probably null
Posted On 2015-04-16