Incidental Mutation 'R3413:Hip1'
ID 267801
Institutional Source Beutler Lab
Gene Symbol Hip1
Ensembl Gene ENSMUSG00000039959
Gene Name huntingtin interacting protein 1
Synonyms A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1
MMRRC Submission 040631-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.802) question?
Stock # R3413 (G1)
Quality Score 204
Status Validated
Chromosome 5
Chromosomal Location 135435385-135573974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135451026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 451 (E451G)
Ref Sequence ENSEMBL: ENSMUSP00000144086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060311] [ENSMUST00000202643]
AlphaFold Q8VD75
Predicted Effect probably damaging
Transcript: ENSMUST00000060311
AA Change: E862G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959
AA Change: E862G

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 damaging
Transcript: ENSMUST00000202643
AA Change: E451G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144086
Gene: ENSMUSG00000039959
AA Change: E451G

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
Meta Mutation Damage Score 0.7026 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (48/49)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 10,037,387 (GRCm39) probably benign Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Axin1 A G 17: 26,407,012 (GRCm39) H535R probably damaging Het
Ccnb3 T A X: 6,874,040 (GRCm39) E846D probably benign Het
Cdca7 G A 2: 72,315,631 (GRCm39) G365R probably damaging Het
Clvs2 T A 10: 33,498,967 (GRCm39) probably benign Het
Coq10a A G 10: 128,200,998 (GRCm39) V93A possibly damaging Het
Ddx42 A G 11: 106,138,636 (GRCm39) T812A probably benign Het
Dnaaf6 T A X: 139,006,770 (GRCm39) N216K possibly damaging Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Fcna G C 2: 25,517,505 (GRCm39) P49A probably damaging Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Golgb1 A G 16: 36,707,709 (GRCm39) K68E probably damaging Het
Got1l1 A G 8: 27,689,864 (GRCm39) probably null Het
Hs6st2 C T X: 50,770,332 (GRCm39) V50I possibly damaging Het
Ighv1-23 C T 12: 114,728,087 (GRCm39) V112I probably benign Het
Map1s A G 8: 71,365,163 (GRCm39) N107D probably damaging Het
Mmel1 T A 4: 154,974,043 (GRCm39) V361D probably damaging Het
Myh15 A G 16: 48,959,095 (GRCm39) D989G probably benign Het
Myo1g G T 11: 6,467,870 (GRCm39) H188Q possibly damaging Het
Nup210 G T 6: 91,002,224 (GRCm39) Q755K probably benign Het
Or14j3 A G 17: 37,900,587 (GRCm39) V219A probably benign Het
Or51q1c A G 7: 103,653,039 (GRCm39) M186V probably damaging Het
Plcz1 C T 6: 139,947,807 (GRCm39) R525Q probably damaging Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Sez6l A G 5: 112,623,227 (GRCm39) L108P possibly damaging Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Sspo C T 6: 48,457,631 (GRCm39) R3178C probably damaging Het
St6galnac1 A G 11: 116,656,682 (GRCm39) W486R probably damaging Het
Syk A G 13: 52,785,775 (GRCm39) D327G probably benign Het
Tbc1d8b C T X: 138,614,140 (GRCm39) A391V probably benign Het
Tmed9 A G 13: 55,743,387 (GRCm39) E173G probably benign Het
Top1mt T C 15: 75,529,025 (GRCm39) N573S probably benign Het
Tusc1 C A 4: 93,223,173 (GRCm39) R162L probably damaging Het
Ubn2 A G 6: 38,475,674 (GRCm39) T1211A probably benign Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Zfp92 C T X: 72,463,900 (GRCm39) probably benign Het
Zfyve28 C T 5: 34,357,028 (GRCm39) M723I probably benign Het
Zmynd8 A T 2: 165,657,371 (GRCm39) M533K 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
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
Predicted Primers PCR Primer
(F):5'- TGATCTAGCCCAGCACACTC -3'
(R):5'- CTCTGAATTTAAGGCCAGTCTGG -3'

Sequencing Primer
(F):5'- TTATTACACAAGGACCTGGGTAGCC -3'
(R):5'- GTCTACAGAGTGCGTTCCAG -3'
Posted On 2015-02-18