Incidental Mutation 'R4012:Hhip'
ID 311753
Institutional Source Beutler Lab
Gene Symbol Hhip
Ensembl Gene ENSMUSG00000064325
Gene Name Hedgehog-interacting protein
Synonyms Hip1, Hip, Hhip1
MMRRC Submission 040949-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4012 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 80692480-80784635 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80719223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 435 (C435S)
Ref Sequence ENSEMBL: ENSMUSP00000078047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079038]
AlphaFold Q7TN16
Predicted Effect probably damaging
Transcript: ENSMUST00000079038
AA Change: C435S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078047
Gene: ENSMUSG00000064325
AA Change: C435S

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
Meta Mutation Damage Score 0.9530 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.0%
Validation Efficiency 100% (79/79)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 G T 18: 80,174,036 (GRCm39) F124L probably benign Het
Aicda A G 6: 122,536,449 (GRCm39) K10E probably benign Het
Als2 A G 1: 59,226,575 (GRCm39) C910R probably benign Het
Ankrd11 T A 8: 123,619,156 (GRCm39) K1565N probably damaging Het
Apol7b T C 15: 77,308,909 (GRCm39) D63G probably damaging Het
Arhgef4 T C 1: 34,764,187 (GRCm39) C1148R possibly damaging Het
Atg16l1 A G 1: 87,694,629 (GRCm39) D102G probably damaging Het
Babam2 T C 5: 32,158,782 (GRCm39) V244A probably damaging Het
Brd10 T G 19: 29,720,990 (GRCm39) K622N probably damaging Het
Cars1 G A 7: 143,113,411 (GRCm39) A668V possibly damaging Het
Ccdc168 T C 1: 44,100,129 (GRCm39) D323G possibly damaging Het
Ccdc185 T A 1: 182,576,453 (GRCm39) S79C possibly damaging Het
Ccdc88b G C 19: 6,826,359 (GRCm39) R1119G probably damaging Het
Cebpz A T 17: 79,231,896 (GRCm39) V810E probably damaging Het
Cep120 T C 18: 53,871,654 (GRCm39) T73A probably damaging Het
Chat C A 14: 32,145,269 (GRCm39) C380F possibly damaging Het
Cltc T C 11: 86,648,087 (GRCm39) Q10R probably benign Het
Cripto C T 9: 110,769,781 (GRCm39) M169I probably benign Het
Cst8 T C 2: 148,646,622 (GRCm39) probably benign Het
Cts3 C T 13: 61,715,868 (GRCm39) probably null Het
Cyp4a29 T A 4: 115,105,707 (GRCm39) D136E probably benign Het
Dmxl2 A C 9: 54,286,297 (GRCm39) probably null Het
Dsg4 T A 18: 20,584,919 (GRCm39) V211E possibly damaging Het
Efcab5 C T 11: 77,008,656 (GRCm39) V957I probably damaging Het
Eif4g2 A T 7: 110,673,358 (GRCm39) L807Q possibly damaging Het
Epha4 A G 1: 77,366,731 (GRCm39) probably benign Het
Epm2aip1 A T 9: 111,101,458 (GRCm39) I144F probably benign Het
Erbb4 C T 1: 68,599,735 (GRCm39) R114H probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam170a C T 18: 50,415,038 (GRCm39) A228V probably damaging Het
Foxred1 A T 9: 35,117,571 (GRCm39) M254K possibly damaging Het
Gm1527 T A 3: 28,952,969 (GRCm39) C90S probably benign Het
Gpr137b T C 13: 13,533,947 (GRCm39) T370A probably benign Het
Gtf2e2 A G 8: 34,245,993 (GRCm39) probably benign Het
Hgsnat A T 8: 26,445,817 (GRCm39) L359* probably null Het
Hoxa13 T C 6: 52,236,107 (GRCm39) D310G possibly damaging Het
Hspa14 T C 2: 3,513,675 (GRCm39) Y18C probably damaging Het
Ighg1 A G 12: 113,293,270 (GRCm39) V140A probably damaging Het
Ighv1-58 A T 12: 115,275,930 (GRCm39) Y69* probably null Het
Inpp5j A G 11: 3,450,185 (GRCm39) F615L probably benign Het
Kcna1 T A 6: 126,619,873 (GRCm39) Y149F probably benign Het
Kcnj6 A T 16: 94,625,877 (GRCm39) probably null Het
Krtap4-1 G T 11: 99,518,637 (GRCm39) C124* probably null Het
Lama1 T A 17: 68,119,368 (GRCm39) L2615* probably null Het
Lcp2 A T 11: 34,018,439 (GRCm39) I72F probably damaging Het
Med1 T A 11: 98,062,532 (GRCm39) I189F possibly damaging Het
Meioc C T 11: 102,566,654 (GRCm39) R757C probably damaging Het
Mtr T A 13: 12,204,283 (GRCm39) H1171L probably damaging Het
Mtr G C 13: 12,204,284 (GRCm39) H1171D probably damaging Het
Naa12 A G 18: 80,255,339 (GRCm39) D211G probably benign Het
Nlrc5 A G 8: 95,202,620 (GRCm39) Y240C possibly damaging Het
Nsun4 T A 4: 115,908,259 (GRCm39) H767L possibly damaging Het
Pcdha1 T A 18: 37,064,189 (GRCm39) N284K probably benign Het
Pcdhgb8 A C 18: 37,896,414 (GRCm39) S495R probably benign Het
Pramel1 T A 4: 143,123,260 (GRCm39) I79N possibly damaging Het
Prdm6 A T 18: 53,673,390 (GRCm39) E183D possibly damaging Het
Prex2 T C 1: 11,254,740 (GRCm39) F1125L probably benign Het
Prkg2 T C 5: 99,127,674 (GRCm39) I346V possibly damaging Het
Ptprz1 A G 6: 23,002,584 (GRCm39) D1558G probably damaging Het
Pttg1ip2 A C 5: 5,528,955 (GRCm39) L20R probably damaging Het
Qng1 T A 13: 58,529,800 (GRCm39) K271* probably null Het
Rab11fip3 GCTCGTCT GCT 17: 26,287,002 (GRCm39) probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
S100a6 A G 3: 90,521,508 (GRCm39) D50G probably damaging Het
Shroom3 T A 5: 93,096,342 (GRCm39) probably benign Het
Sipa1l1 G A 12: 82,388,556 (GRCm39) V261M possibly damaging Het
Slc5a4b T A 10: 75,910,826 (GRCm39) I337F probably damaging Het
Smarcc1 A G 9: 109,961,273 (GRCm39) Y30C possibly damaging Het
Swap70 A G 7: 109,880,512 (GRCm39) K576E possibly damaging Het
Syt6 A G 3: 103,532,809 (GRCm39) probably benign Het
Szt2 T C 4: 118,241,097 (GRCm39) I1726V probably benign Het
Thoc1 A G 18: 9,987,651 (GRCm39) K453E possibly damaging Het
Tmem38b A G 4: 53,854,409 (GRCm39) I214V probably benign Het
Tonsl A T 15: 76,521,244 (GRCm39) I354N probably damaging Het
Trappc9 T C 15: 72,903,472 (GRCm39) I303V possibly damaging Het
Trim66 A G 7: 109,057,338 (GRCm39) S1032P probably damaging Het
Tsc22d4 T C 5: 137,756,590 (GRCm39) V6A probably benign Het
Ubtd2 A G 11: 32,449,260 (GRCm39) K36E probably benign Het
Zkscan2 T C 7: 123,097,883 (GRCm39) E171G 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
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
Predicted Primers PCR Primer
(F):5'- CGTGCTAGGCCAATGTTTCTATG -3'
(R):5'- TCCCGAGGTCATTAGCTTCAATAG -3'

Sequencing Primer
(F):5'- GCTTTCTCAATGCTCATTATGCAAAC -3'
(R):5'- TAGAGTAAACAAACTTGTCAGGATG -3'
Posted On 2015-04-29