Incidental Mutation 'R6535:Hip1'
ID 520327
Institutional Source Beutler Lab
Gene Symbol Hip1
Ensembl Gene ENSMUSG00000039959
Gene Name huntingtin interacting protein 1
Synonyms A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1
MMRRC Submission 044661-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.802) question?
Stock # R6535 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 135435385-135573974 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 135457351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060311] [ENSMUST00000202643]
AlphaFold Q8VD75
Predicted Effect probably null
Transcript: ENSMUST00000060311
SMART Domains Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959

DomainStartEndE-ValueType
ENTH 38 160 9.98e-41 SMART
PDB:3I00|B 361 480 9e-57 PDB
Pfam:HIP1_clath_bdg 482 572 2.1e-27 PFAM
low complexity region 649 658 N/A INTRINSIC
low complexity region 780 796 N/A INTRINSIC
ILWEQ 806 1004 9.05e-120 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201479
Predicted Effect probably null
Transcript: ENSMUST00000202643
SMART Domains Protein: ENSMUSP00000144086
Gene: ENSMUSG00000039959

DomainStartEndE-ValueType
PDB:2QA7|D 1 70 9e-34 PDB
Pfam:HIP1_clath_bdg 71 161 4.4e-24 PFAM
low complexity region 238 247 N/A INTRINSIC
low complexity region 369 385 N/A INTRINSIC
ILWEQ 395 593 5.7e-122 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutants may exhibit axial skeleton defects, hematopotietic abnormalities, and testicular degeneration with increased apoptosis of postmeiotic spermatids. One line showed microphthalmia and cataracts, whereas others did not. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 G A 17: 43,750,920 (GRCm39) S495N probably benign Het
Ank3 G T 10: 69,713,684 (GRCm39) A448S probably damaging Het
Apobec3 A G 15: 79,781,950 (GRCm39) *47W probably null Het
B4gat1 T C 19: 5,089,558 (GRCm39) V185A possibly damaging Het
Cers1 T A 8: 70,782,804 (GRCm39) V58D probably damaging Het
Chrm1 T A 19: 8,656,437 (GRCm39) Y381N possibly damaging Het
Cpne6 A T 14: 55,751,122 (GRCm39) E177V probably benign Het
Cpt1a T A 19: 3,415,788 (GRCm39) probably null Het
Ctsq A T 13: 61,183,140 (GRCm39) I334N probably damaging Het
Dennd6b A G 15: 89,070,570 (GRCm39) L400P probably damaging Het
Fam135b A G 15: 71,493,924 (GRCm39) S2P probably damaging Het
Lama2 A C 10: 26,980,127 (GRCm39) L1896R probably damaging Het
Ly6g6g T C 15: 74,644,074 (GRCm39) S81G probably damaging Het
Macf1 A T 4: 123,365,728 (GRCm39) V3011D possibly damaging Het
Macrod1 A G 19: 7,034,515 (GRCm39) D86G probably damaging Het
Mettl8 G T 2: 70,803,733 (GRCm39) H185N possibly damaging Het
Mipol1 A C 12: 57,352,886 (GRCm39) Q75P possibly damaging Het
Pi4ka C T 16: 17,118,900 (GRCm39) V125M probably damaging Het
Pole A C 5: 110,472,673 (GRCm39) Y1618S probably damaging Het
Prrc2a A G 17: 35,381,241 (GRCm39) V21A unknown Het
Rhbdl1 A T 17: 26,054,799 (GRCm39) Y111* probably null Het
Sbk3 A C 7: 4,972,840 (GRCm39) M110R possibly damaging Het
Scn8a G A 15: 100,857,588 (GRCm39) probably benign Het
Tcstv2c T C 13: 120,616,190 (GRCm39) S10P probably damaging Het
Tshz3 T C 7: 36,468,214 (GRCm39) S68P probably damaging Het
Vmn1r88 C T 7: 12,912,112 (GRCm39) T156I probably benign Het
Wrn T C 8: 33,826,131 (GRCm39) H177R probably damaging Het
Other mutations in Hip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Hip1 APN 5 135,478,676 (GRCm39) missense probably damaging 1.00
IGL00418:Hip1 APN 5 135,455,200 (GRCm39) missense probably damaging 1.00
IGL01744:Hip1 APN 5 135,573,917 (GRCm39) utr 5 prime probably benign
IGL02494:Hip1 APN 5 135,473,645 (GRCm39) nonsense probably null
IGL02749:Hip1 APN 5 135,473,605 (GRCm39) missense probably benign 0.00
IGL03219:Hip1 APN 5 135,485,904 (GRCm39) missense probably benign 0.16
IGL03328:Hip1 APN 5 135,453,728 (GRCm39) missense probably damaging 1.00
BB010:Hip1 UTSW 5 135,489,310 (GRCm39) missense probably damaging 0.98
BB020:Hip1 UTSW 5 135,489,310 (GRCm39) missense probably damaging 0.98
R0100:Hip1 UTSW 5 135,465,307 (GRCm39) missense probably benign
R0100:Hip1 UTSW 5 135,465,307 (GRCm39) missense probably benign
R0336:Hip1 UTSW 5 135,457,467 (GRCm39) missense probably benign 0.39
R0410:Hip1 UTSW 5 135,487,009 (GRCm39) missense probably damaging 1.00
R1454:Hip1 UTSW 5 135,467,486 (GRCm39) missense probably benign
R1530:Hip1 UTSW 5 135,473,634 (GRCm39) missense probably damaging 1.00
R1848:Hip1 UTSW 5 135,463,995 (GRCm39) splice site probably null
R2201:Hip1 UTSW 5 135,460,584 (GRCm39) missense probably benign
R2246:Hip1 UTSW 5 135,481,698 (GRCm39) missense probably damaging 1.00
R2276:Hip1 UTSW 5 135,485,900 (GRCm39) missense probably damaging 1.00
R2353:Hip1 UTSW 5 135,441,566 (GRCm39) missense probably damaging 1.00
R3013:Hip1 UTSW 5 135,463,893 (GRCm39) missense possibly damaging 0.91
R3413:Hip1 UTSW 5 135,451,026 (GRCm39) missense probably damaging 1.00
R3939:Hip1 UTSW 5 135,457,618 (GRCm39) missense probably benign 0.14
R4153:Hip1 UTSW 5 135,441,560 (GRCm39) missense probably damaging 1.00
R4839:Hip1 UTSW 5 135,455,172 (GRCm39) splice site probably null
R5059:Hip1 UTSW 5 135,478,675 (GRCm39) missense probably damaging 1.00
R5171:Hip1 UTSW 5 135,469,156 (GRCm39) missense probably damaging 1.00
R5189:Hip1 UTSW 5 135,463,147 (GRCm39) missense probably damaging 1.00
R5358:Hip1 UTSW 5 135,465,252 (GRCm39) missense probably benign 0.22
R5642:Hip1 UTSW 5 135,461,939 (GRCm39) nonsense probably null
R5646:Hip1 UTSW 5 135,457,595 (GRCm39) missense probably damaging 0.98
R5831:Hip1 UTSW 5 135,440,117 (GRCm39) missense probably benign 0.00
R5908:Hip1 UTSW 5 135,453,717 (GRCm39) critical splice donor site probably null
R6484:Hip1 UTSW 5 135,468,983 (GRCm39) missense probably damaging 1.00
R6557:Hip1 UTSW 5 135,457,573 (GRCm39) missense possibly damaging 0.67
R7459:Hip1 UTSW 5 135,443,151 (GRCm39) missense probably damaging 1.00
R7589:Hip1 UTSW 5 135,443,165 (GRCm39) missense probably benign
R7677:Hip1 UTSW 5 135,459,171 (GRCm39) missense probably benign
R7933:Hip1 UTSW 5 135,489,310 (GRCm39) missense probably damaging 0.98
R8267:Hip1 UTSW 5 135,457,467 (GRCm39) missense probably benign 0.39
R8825:Hip1 UTSW 5 135,450,976 (GRCm39) missense probably damaging 1.00
R8900:Hip1 UTSW 5 135,459,144 (GRCm39) missense probably benign
R8931:Hip1 UTSW 5 135,460,297 (GRCm39) unclassified probably benign
R9059:Hip1 UTSW 5 135,457,597 (GRCm39) missense probably benign 0.01
R9262:Hip1 UTSW 5 135,478,541 (GRCm39) missense probably damaging 1.00
R9441:Hip1 UTSW 5 135,460,571 (GRCm39) missense possibly damaging 0.47
R9685:Hip1 UTSW 5 135,478,676 (GRCm39) missense probably damaging 1.00
Z1177:Hip1 UTSW 5 135,457,460 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCAGTAGCATTCGTACTTGAAA -3'
(R):5'- CAGGCAGTGTTTAAACATCTGTCT -3'

Sequencing Primer
(F):5'- ACACACTCACTTTCTGGGTAGACATG -3'
(R):5'- AGTGTTTAAACATCTGTCTCTCCTG -3'
Posted On 2018-06-06