Incidental Mutation 'R6026:Hhip'
ID 480045
Institutional Source Beutler Lab
Gene Symbol Hhip
Ensembl Gene ENSMUSG00000064325
Gene Name Hedgehog-interacting protein
Synonyms Hip1, Hip, Hhip1
MMRRC Submission 044198-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6026 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 80692480-80784635 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80699069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 666 (C666S)
Ref Sequence ENSEMBL: ENSMUSP00000078047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079038]
AlphaFold Q7TN16
Predicted Effect probably damaging
Transcript: ENSMUST00000079038
AA Change: C666S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078047
Gene: ENSMUSG00000064325
AA Change: C666S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183628
Meta Mutation Damage Score 0.9474 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 97% (73/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik A G 11: 58,316,581 (GRCm39) D187G probably benign Het
4933421I07Rik A T 7: 42,095,708 (GRCm39) M180K probably benign Het
Aatk T C 11: 119,903,190 (GRCm39) H345R possibly damaging Het
Abcc8 T C 7: 45,816,424 (GRCm39) T239A probably benign Het
Abcf3 A G 16: 20,369,320 (GRCm39) E234G probably damaging Het
Actrt2 T C 4: 154,751,047 (GRCm39) D363G possibly damaging Het
Adam1a A T 5: 121,657,425 (GRCm39) C623S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Barhl2 T A 5: 106,603,474 (GRCm39) K228N probably benign Het
Blvrb A G 7: 27,162,115 (GRCm39) H153R probably damaging Het
Capn9 A G 8: 125,332,601 (GRCm39) D480G probably damaging Het
Cct3 T C 3: 88,219,029 (GRCm39) I182T possibly damaging Het
Clasp2 A G 9: 113,740,646 (GRCm39) N1208D probably benign Het
Col26a1 A G 5: 136,876,354 (GRCm39) C89R probably damaging Het
Cops4 T A 5: 100,690,194 (GRCm39) probably benign Het
Cpox T A 16: 58,491,298 (GRCm39) W170R probably damaging Het
Ddx27 A G 2: 166,875,560 (GRCm39) K656E probably benign Het
Eif4e T C 3: 138,256,661 (GRCm39) I66T probably damaging Het
Ercc3 T C 18: 32,378,974 (GRCm39) probably null Het
Esp38 G A 17: 40,266,032 (GRCm39) C47Y probably damaging Het
Fancd2 T C 6: 113,528,731 (GRCm39) V380A possibly damaging Het
Fbxw7 T A 3: 84,859,948 (GRCm39) probably null Het
Fryl T G 5: 73,257,340 (GRCm39) R736S probably benign Het
Gad2 G A 2: 22,513,748 (GRCm39) V62M probably benign Het
Gigyf2 A G 1: 87,368,454 (GRCm39) T1045A probably damaging Het
Gm13090 T A 4: 151,175,157 (GRCm39) L78* probably null Het
Gm19410 G A 8: 36,279,580 (GRCm39) S1815N probably benign Het
Gm28051 A T 12: 102,686,444 (GRCm39) L72Q unknown Het
Gm44511 T C 6: 128,797,240 (GRCm39) T83A possibly damaging Het
Grk2 C T 19: 4,340,811 (GRCm39) V246I probably damaging Het
Grm7 C T 6: 111,478,500 (GRCm39) Q62* probably null Het
Gsdmc3 T A 15: 63,738,600 (GRCm39) E154V probably damaging Het
Gstz1 A C 12: 87,206,948 (GRCm39) Q114P probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hif1a A C 12: 73,979,055 (GRCm39) H193P probably damaging Het
Hyal2 A G 9: 107,449,398 (GRCm39) T385A probably benign Het
Ihh T C 1: 74,985,886 (GRCm39) T200A probably benign Het
Iqgap3 T A 3: 87,997,478 (GRCm39) V218E probably damaging Het
Lct A G 1: 128,227,755 (GRCm39) I1246T probably benign Het
Lmo7 T C 14: 102,118,426 (GRCm39) V217A probably benign Het
Lrp1 C T 10: 127,409,272 (GRCm39) D1616N probably damaging Het
Lrrfip2 A T 9: 111,043,239 (GRCm39) T165S probably damaging Het
Morc2b A G 17: 33,356,957 (GRCm39) Y272H possibly damaging Het
Muc16 A G 9: 18,571,154 (GRCm39) M455T unknown Het
Ncapg2 A T 12: 116,406,641 (GRCm39) D939V possibly damaging Het
Ncbp3 T C 11: 72,958,548 (GRCm39) V236A probably benign Het
Obscn T A 11: 58,957,916 (GRCm39) T3595S probably damaging Het
Odf2l T C 3: 144,854,797 (GRCm39) S545P possibly damaging Het
Or3a1 T A 11: 74,225,914 (GRCm39) I48F probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pdzrn3 A C 6: 101,339,105 (GRCm39) C269G probably benign Het
Pear1 T A 3: 87,664,220 (GRCm39) N278Y probably damaging Het
Phb1 C T 11: 95,562,245 (GRCm39) R41* probably null Het
Pikfyve T C 1: 65,311,856 (GRCm39) V2031A probably damaging Het
Plxna2 A G 1: 194,482,122 (GRCm39) I1465V probably damaging Het
Ppp6r2 A G 15: 89,167,113 (GRCm39) N776S probably benign Het
Prkce A T 17: 86,800,658 (GRCm39) E358V probably benign Het
Prl5a1 A T 13: 28,335,247 (GRCm39) I219F probably benign Het
Prss3 T C 6: 41,354,488 (GRCm39) probably null Het
Ptprc A T 1: 137,998,987 (GRCm39) M858K probably damaging Het
Retreg3 T C 11: 100,997,226 (GRCm39) T85A probably damaging Het
Rfc2 T A 5: 134,624,185 (GRCm39) C265S probably damaging Het
Smarcd1 G T 15: 99,603,619 (GRCm39) V256L probably damaging Het
Stat5a T C 11: 100,771,142 (GRCm39) F574L probably damaging Het
Tcirg1 T C 19: 3,947,487 (GRCm39) H624R probably benign Het
Tcstv1a C A 13: 120,355,987 (GRCm39) probably benign Het
Tenm2 C T 11: 35,963,556 (GRCm39) probably null Het
Tomm40 A G 7: 19,444,889 (GRCm39) V164A probably benign Het
Txnl4a T C 18: 80,250,482 (GRCm39) V26A probably damaging Het
Ugt2a3 A T 5: 87,484,336 (GRCm39) F229L probably benign Het
Utp20 T C 10: 88,604,541 (GRCm39) T1785A probably benign Het
Vmn1r22 T A 6: 57,877,390 (GRCm39) I196L probably benign Het
Zfp652 T G 11: 95,640,788 (GRCm39) C238G possibly damaging Het
Other mutations in Hhip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Hhip APN 8 80,723,412 (GRCm39) missense probably damaging 0.96
IGL02560:Hhip APN 8 80,713,638 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- GTAGCAGAAGGACAGTCTCTC -3'
(R):5'- TGTCTGCAAACCGTTTACGTAC -3'

Sequencing Primer
(F):5'- GGACAGTCTCTCTTTTTAATGATGAC -3'
(R):5'- ACGTACTTAGATATTCTCTGTCCAG -3'
Posted On 2017-06-26