Incidental Mutation 'IGL00326:Hip1'
ID5523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hip1
Ensembl Gene ENSMUSG00000039959
Gene Namehuntingtin interacting protein 1
SynonymsHIP-1, 2610109B09Rik, A930014B11Rik, E130315I21Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.813) question?
Stock #IGL00326
Quality Score
Status
Chromosome5
Chromosomal Location135406531-135545120 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 135449822 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 178 (F178L)
Ref Sequence ENSEMBL: ENSMUSP00000148842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060311] [ENSMUST00000201998] [ENSMUST00000212301]
Predicted Effect probably damaging
Transcript: ENSMUST00000060311
AA Change: F203L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959
AA Change: F203L

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 noncoding transcript
Transcript: ENSMUST00000200898
Predicted Effect probably benign
Transcript: ENSMUST00000201998
AA Change: F169L

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144392
Gene: ENSMUSG00000039959
AA Change: F169L

DomainStartEndE-ValueType
ENTH 4 126 4.8e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202236
Predicted Effect probably damaging
Transcript: ENSMUST00000212301
AA Change: F178L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik G T 4: 62,543,744 probably null Het
9230109A22Rik G T 15: 25,139,115 noncoding transcript Het
Acd A T 8: 105,698,454 Y378N probably damaging Het
Adcy9 A G 16: 4,294,696 V709A probably benign Het
Axl A T 7: 25,785,899 L168H probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Drd3 G A 16: 43,762,321 R59H probably benign Het
Erlec1 T C 11: 30,948,510 N180S possibly damaging Het
Fnip2 G T 3: 79,481,521 S634R probably benign Het
Focad A T 4: 88,357,474 T1107S unknown Het
Galnt11 T C 5: 25,248,831 probably benign Het
Gigyf1 C T 5: 137,518,948 probably benign Het
Gpat2 A G 2: 127,432,396 T353A probably benign Het
Hist1h2bb G T 13: 23,747,128 V112L possibly damaging Het
Igkv6-13 A T 6: 70,457,661 S67T probably damaging Het
Iqch T C 9: 63,480,654 T824A probably damaging Het
Kansl1 A G 11: 104,424,466 S249P probably damaging Het
Large1 C T 8: 73,131,983 A86T probably benign Het
Lysmd3 C T 13: 81,665,244 A77V probably damaging Het
Npr3 T A 15: 11,895,694 S289C probably damaging Het
Olfr480 A G 7: 108,066,288 V140A probably benign Het
Olfr666 A T 7: 104,892,972 S219T probably damaging Het
Pear1 C T 3: 87,752,116 V804I possibly damaging Het
Rgs11 T A 17: 26,207,397 I230N probably damaging Het
Slc13a3 A T 2: 165,473,097 L22Q possibly damaging Het
Slc5a9 A G 4: 111,898,569 V44A probably damaging Het
Ttc12 G T 9: 49,471,206 probably null Het
Vmn2r2 A G 3: 64,133,898 probably benign Het
Zc3h18 T C 8: 122,386,852 probably benign Het
Zfp354a G A 11: 51,069,363 E132K probably benign Het
Other mutations in Hip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Hip1 APN 5 135426346 missense probably damaging 1.00
IGL01744:Hip1 APN 5 135545063 utr 5 prime probably benign
IGL02494:Hip1 APN 5 135444791 nonsense probably null
IGL02749:Hip1 APN 5 135444751 missense probably benign 0.00
IGL03219:Hip1 APN 5 135457050 missense probably benign 0.16
IGL03328:Hip1 APN 5 135424874 missense probably damaging 1.00
BB010:Hip1 UTSW 5 135460456 missense probably damaging 0.98
BB020:Hip1 UTSW 5 135460456 missense probably damaging 0.98
R0100:Hip1 UTSW 5 135436453 missense probably benign
R0100:Hip1 UTSW 5 135436453 missense probably benign
R0336:Hip1 UTSW 5 135428613 missense probably benign 0.39
R0410:Hip1 UTSW 5 135458155 missense probably damaging 1.00
R1454:Hip1 UTSW 5 135438632 missense probably benign
R1530:Hip1 UTSW 5 135444780 missense probably damaging 1.00
R1848:Hip1 UTSW 5 135435141 splice site probably null
R2201:Hip1 UTSW 5 135431730 missense probably benign
R2246:Hip1 UTSW 5 135452844 missense probably damaging 1.00
R2276:Hip1 UTSW 5 135457046 missense probably damaging 1.00
R2353:Hip1 UTSW 5 135412712 missense probably damaging 1.00
R3013:Hip1 UTSW 5 135435039 missense possibly damaging 0.91
R3413:Hip1 UTSW 5 135422172 missense probably damaging 1.00
R3939:Hip1 UTSW 5 135428764 missense probably benign 0.14
R4153:Hip1 UTSW 5 135412706 missense probably damaging 1.00
R4839:Hip1 UTSW 5 135426318 splice site probably null
R5059:Hip1 UTSW 5 135449821 missense probably damaging 1.00
R5171:Hip1 UTSW 5 135440302 missense probably damaging 1.00
R5189:Hip1 UTSW 5 135434293 missense probably damaging 1.00
R5358:Hip1 UTSW 5 135436398 missense probably benign 0.22
R5642:Hip1 UTSW 5 135433085 nonsense probably null
R5646:Hip1 UTSW 5 135428741 missense probably damaging 0.98
R5831:Hip1 UTSW 5 135411263 missense probably benign 0.00
R5908:Hip1 UTSW 5 135424863 critical splice donor site probably null
R6484:Hip1 UTSW 5 135440129 missense probably damaging 1.00
R6535:Hip1 UTSW 5 135428497 splice site probably null
R6557:Hip1 UTSW 5 135428719 missense possibly damaging 0.67
R7459:Hip1 UTSW 5 135414297 missense probably damaging 1.00
R7589:Hip1 UTSW 5 135414311 missense probably benign
R7677:Hip1 UTSW 5 135430317 missense probably benign
R7933:Hip1 UTSW 5 135460456 missense probably damaging 0.98
R8267:Hip1 UTSW 5 135428613 missense probably benign 0.39
Z1177:Hip1 UTSW 5 135428606 missense probably benign 0.00
Posted On2012-04-20