Incidental Mutation 'R5646:Hip1'
ID 441140
Institutional Source Beutler Lab
Gene Symbol Hip1
Ensembl Gene ENSMUSG00000039959
Gene Name huntingtin interacting protein 1
Synonyms A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1
MMRRC Submission 043294-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.802) question?
Stock # R5646 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 135435385-135573974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 135457595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 704 (R704W)
Ref Sequence ENSEMBL: ENSMUSP00000059033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060311] [ENSMUST00000202643]
AlphaFold Q8VD75
Predicted Effect probably damaging
Transcript: ENSMUST00000060311
AA Change: R704W

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959
AA Change: R704W

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 possibly damaging
Transcript: ENSMUST00000202643
AA Change: R293W

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144086
Gene: ENSMUSG00000039959
AA Change: R293W

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 C A 5: 34,788,024 (GRCm39) A691D probably benign Het
Agap3 C A 5: 24,688,395 (GRCm39) D394E probably benign Het
Arhgef11 T C 3: 87,591,793 (GRCm39) V59A possibly damaging Het
Atp2a1 A G 7: 126,052,277 (GRCm39) V402A probably benign Het
Bbs9 T C 9: 22,490,011 (GRCm39) F261L probably benign Het
Bsn A T 9: 107,987,631 (GRCm39) probably benign Het
Camk1 A G 6: 113,316,301 (GRCm39) V81A probably damaging Het
Cass4 T G 2: 172,258,165 (GRCm39) C54W probably damaging Het
Ccdc39 A T 3: 33,879,699 (GRCm39) F456L probably damaging Het
Cdc42bpa A G 1: 179,933,659 (GRCm39) E766G probably damaging Het
Cdcp2 T C 4: 106,962,339 (GRCm39) C171R probably damaging Het
Cdh9 G A 15: 16,823,371 (GRCm39) E118K probably damaging Het
Col4a2 G A 8: 11,491,281 (GRCm39) G1227R probably damaging Het
Cyp2d9 A G 15: 82,336,665 (GRCm39) T5A probably benign Het
Dlg5 T A 14: 24,208,767 (GRCm39) D813V probably damaging Het
Dmtf1 G A 5: 9,174,515 (GRCm39) S405F possibly damaging Het
Drd2 A G 9: 49,316,212 (GRCm39) K324R probably benign Het
Ergic1 T C 17: 26,833,332 (GRCm39) S29P probably damaging Het
Fmnl1 A G 11: 103,087,338 (GRCm39) probably benign Het
Foxd2 C T 4: 114,765,832 (GRCm39) A63T unknown Het
Gfap T C 11: 102,782,282 (GRCm39) I409M probably benign Het
Gfpt1 A G 6: 87,019,981 (GRCm39) M1V probably null Het
H2-T23 C G 17: 36,342,695 (GRCm39) E148Q possibly damaging Het
Kif19a A C 11: 114,670,480 (GRCm39) D130A probably damaging Het
Lin7b T C 7: 45,018,617 (GRCm39) D14G probably damaging Het
Meioc T A 11: 102,566,083 (GRCm39) N510K possibly damaging Het
Mettl5 C A 2: 69,711,663 (GRCm39) G68* probably null Het
Mitf A T 6: 97,990,655 (GRCm39) I184F probably damaging Het
Mmp9 T A 2: 164,790,970 (GRCm39) H119Q probably benign Het
Mycbp2 T A 14: 103,407,346 (GRCm39) H2768L probably benign Het
Myh2 A T 11: 67,079,638 (GRCm39) I1032F probably benign Het
Myo3b T C 2: 70,144,774 (GRCm39) I1110T probably damaging Het
Nde1 T C 16: 13,987,378 (GRCm39) F8L probably damaging Het
Or10aa3 C T 1: 173,878,853 (GRCm39) Q305* probably null Het
Or2a25 A G 6: 42,888,457 (GRCm39) probably null Het
Or2h2b-ps1 T C 17: 37,480,808 (GRCm39) I244V probably benign Het
Or4f47 T C 2: 111,973,028 (GRCm39) V246A possibly damaging Het
Or51r1 A C 7: 102,228,512 (GRCm39) Y270S possibly damaging Het
Or5ac20 C T 16: 59,104,342 (GRCm39) V173I probably benign Het
Or6c202 T C 10: 128,996,706 (GRCm39) D49G possibly damaging Het
Pcdhga8 A G 18: 37,859,823 (GRCm39) H293R probably benign Het
Pde7a A T 3: 19,287,937 (GRCm39) L244Q probably damaging Het
Pex14 T C 4: 149,045,910 (GRCm39) D340G probably benign Het
Pfkfb4 A T 9: 108,837,489 (GRCm39) I195F probably damaging Het
Pik3c2a C A 7: 116,005,186 (GRCm39) G361W probably damaging Het
Prkcg T A 7: 3,377,597 (GRCm39) M517K probably damaging Het
Prob1 A T 18: 35,787,167 (GRCm39) F362L probably benign Het
Rims4 C T 2: 163,705,937 (GRCm39) W232* probably null Het
Robo2 T C 16: 73,758,707 (GRCm39) D688G probably damaging Het
Sec24c C A 14: 20,729,641 (GRCm39) A73E probably benign Het
Slc15a3 A G 19: 10,820,574 (GRCm39) N64D probably benign Het
Smg1 A T 7: 117,811,782 (GRCm39) N65K probably benign Het
Spata31h1 A G 10: 82,119,610 (GRCm39) S4467P probably damaging Het
Sptb G T 12: 76,634,215 (GRCm39) D2165E probably benign Het
Sptbn5 A T 2: 119,879,292 (GRCm39) noncoding transcript Het
Syt12 A T 19: 4,506,569 (GRCm39) M192K possibly damaging Het
Tas2r107 A G 6: 131,636,671 (GRCm39) V126A probably benign Het
Thbs3 T C 3: 89,126,405 (GRCm39) L242P probably damaging Het
Timp2 A T 11: 118,208,358 (GRCm39) probably null Het
Tmtc1 G A 6: 148,148,329 (GRCm39) A751V probably damaging Het
Tnni2 A T 7: 141,997,650 (GRCm39) D85V probably damaging Het
Ttc39b G A 4: 83,162,307 (GRCm39) P319L probably damaging Het
Ttc6 A T 12: 57,622,805 (GRCm39) K68M probably damaging Het
Usp25 G A 16: 76,847,360 (GRCm39) R156Q probably benign Het
Vill A T 9: 118,900,230 (GRCm39) D365V probably damaging Het
Vmn1r65 T A 7: 6,012,223 (GRCm39) T4S probably benign Het
Vmn2r76 C A 7: 85,875,261 (GRCm39) C572F probably damaging Het
Vps26a A C 10: 62,304,077 (GRCm39) N181K probably damaging Het
Xirp2 T C 2: 67,341,134 (GRCm39) L1125P probably damaging Het
Zbtb41 T G 1: 139,351,501 (GRCm39) S205A probably benign Het
Zfp438 T C 18: 5,214,526 (GRCm39) D144G probably benign Het
Zfp600 T C 4: 146,131,670 (GRCm39) S113P probably damaging Het
Zfp84 C T 7: 29,475,818 (GRCm39) T170M probably benign Het
Zmiz2 T A 11: 6,352,837 (GRCm39) D654E probably damaging Het
Zswim4 A T 8: 84,957,739 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- TGACGTCAGCATTCTCCATAGTTC -3'
(R):5'- GGCCAGGTTCAAATATCTCCC -3'

Sequencing Primer
(F):5'- ATAGTTCCCTCTTCCTCCAGG -3'
(R):5'- ACTTCAGTTAAGTGGATCTGACGCC -3'
Posted On 2016-11-08