Incidental Mutation 'IGL02749:Hip1'
ID 306214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hip1
Ensembl Gene ENSMUSG00000039959
Gene Name huntingtin interacting protein 1
Synonyms A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.802) question?
Stock # IGL02749
Quality Score
Status
Chromosome 5
Chromosomal Location 135435385-135573974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135473605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 238 (M238V)
Ref Sequence ENSEMBL: ENSMUSP00000148842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060311] [ENSMUST00000201998] [ENSMUST00000212301]
AlphaFold Q8VD75
Predicted Effect probably benign
Transcript: ENSMUST00000060311
AA Change: M263V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959
AA Change: M263V

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: ENSMUST00000200898
Predicted Effect probably benign
Transcript: ENSMUST00000201998
SMART Domains Protein: ENSMUSP00000144392
Gene: ENSMUSG00000039959

DomainStartEndE-ValueType
ENTH 4 126 4.8e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202236
Predicted Effect probably benign
Transcript: ENSMUST00000212301
AA Change: M238V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230104M06Rik T C 12: 112,963,795 (GRCm39) D61G probably benign Het
Albfm1 T C 5: 90,719,624 (GRCm39) V240A possibly damaging Het
Ascc2 G A 11: 4,590,481 (GRCm39) probably null Het
Atrn C T 2: 130,812,064 (GRCm39) Q670* probably null Het
Atrn G T 2: 130,789,654 (GRCm39) probably benign Het
Calr A C 8: 85,571,117 (GRCm39) W236G probably damaging Het
Camk2g T A 14: 20,816,084 (GRCm39) probably null Het
Cd101 G T 3: 100,927,715 (GRCm39) T122K probably damaging Het
Cert1 T A 13: 96,765,643 (GRCm39) N469K possibly damaging Het
Cryl1 T C 14: 57,541,181 (GRCm39) T168A probably benign Het
Diaph3 A G 14: 87,156,261 (GRCm39) I684T probably damaging Het
Ednrb A T 14: 104,060,495 (GRCm39) M266K possibly damaging Het
Eif4h T C 5: 134,668,146 (GRCm39) D3G probably damaging Het
Eny2 C T 15: 44,293,031 (GRCm39) R28C possibly damaging Het
Epsti1 A G 14: 78,177,363 (GRCm39) E181G probably damaging Het
Ezh2 A G 6: 47,510,698 (GRCm39) F598S probably damaging Het
Fat3 G T 9: 15,918,007 (GRCm39) T1472K possibly damaging Het
Gabra4 T A 5: 71,795,490 (GRCm39) I262F probably benign Het
Gpat4 A T 8: 23,670,886 (GRCm39) Y109N probably damaging Het
Gpsm1 C T 2: 26,229,687 (GRCm39) T36I probably damaging Het
Hikeshi C T 7: 89,585,097 (GRCm39) V36I possibly damaging Het
Hnrnpll A T 17: 80,369,420 (GRCm39) M1K probably null Het
Irx2 G A 13: 72,779,429 (GRCm39) D238N probably damaging Het
Kcnip4 T A 5: 48,567,127 (GRCm39) probably benign Het
Lair1 G A 7: 4,031,900 (GRCm39) T69I possibly damaging Het
Lamc1 A G 1: 153,125,599 (GRCm39) I558T possibly damaging Het
Map4k5 C T 12: 69,862,580 (GRCm39) E639K probably benign Het
Mc4r A G 18: 66,992,733 (GRCm39) S127P probably damaging Het
Mmp23 A G 4: 155,735,989 (GRCm39) M221T possibly damaging Het
Mre11a T C 9: 14,737,887 (GRCm39) S587P possibly damaging Het
Myh9 A T 15: 77,692,186 (GRCm39) Y124* probably null Het
Nek9 C A 12: 85,352,281 (GRCm39) A861S probably benign Het
Nup155 T A 15: 8,163,560 (GRCm39) Y576N probably damaging Het
Or5w10 C T 2: 87,375,001 (GRCm39) V296M probably damaging Het
Pcca A T 14: 122,771,800 (GRCm39) T8S probably benign Het
Pcdh15 A G 10: 74,466,900 (GRCm39) D1573G probably benign Het
Pdpr T A 8: 111,844,722 (GRCm39) V373E probably benign Het
Pdzph1 A T 17: 59,239,478 (GRCm39) L950Q possibly damaging Het
Pira13 A G 7: 3,825,624 (GRCm39) I415T probably damaging Het
Prss35 A C 9: 86,638,297 (GRCm39) K356Q probably damaging Het
Psg22 A T 7: 18,456,944 (GRCm39) T237S possibly damaging Het
Rdh13 A G 7: 4,430,703 (GRCm39) Y252H probably damaging Het
Sema3d T C 5: 12,613,112 (GRCm39) probably benign Het
Slc35b2 G A 17: 45,877,493 (GRCm39) V207I probably benign Het
Sparcl1 T G 5: 104,240,746 (GRCm39) E226A possibly damaging Het
Srms C A 2: 180,851,302 (GRCm39) A155S possibly damaging Het
Tas2r107 A T 6: 131,636,917 (GRCm39) I44N probably damaging Het
Tmem236 C T 2: 14,224,132 (GRCm39) T307M probably damaging Het
Ush2a C T 1: 188,679,155 (GRCm39) P4788S probably damaging Het
Vmn1r170 A T 7: 23,305,716 (GRCm39) L39F probably benign Het
Vmn2r90 T A 17: 17,947,122 (GRCm39) *121R probably null 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
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
R6535:Hip1 UTSW 5 135,457,351 (GRCm39) splice site probably null
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
Posted On 2015-04-16