|Institutional Source||Beutler Lab|
|Gene Name||Hedgehog-interacting protein|
|Synonyms||Hip, Hhip1, Hip1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5371 (G1)|
|Chromosomal Location||79965851-80058006 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 79997591 bp|
|Amino Acid Change||Valine to Methionine at position 341 (V341M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078047 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079038]|
|Predicted Effect||probably damaging
AA Change: V341M
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: V341M
|Meta Mutation Damage Score||0.026|
|Coding Region Coverage||
|Validation Efficiency||96% (71/74)|
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||
|Other mutations in Hhip||
(F):5'- CTGGCATTGAAATCACATTAGTGTC -3'
(R):5'- CCATGACTTAAAACATAGTGTGTGC -3'
(F):5'- AGTGTCAAAAAGTACTTGCTGG -3'
(R):5'- AACATAGTGTGTGCATCTCTGTC -3'