Incidental Mutation 'IGL02157:Hook2'
ID282292
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hook2
Ensembl Gene ENSMUSG00000052566
Gene Namehook microtubule tethering protein 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL02157
Quality Score
Status
Chromosome8
Chromosomal Location84990603-85003349 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 85001150 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064495] [ENSMUST00000209764] [ENSMUST00000210326]
Predicted Effect probably benign
Transcript: ENSMUST00000064495
SMART Domains Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566

DomainStartEndE-ValueType
Pfam:HOOK 8 703 2.3e-277 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209652
Predicted Effect probably benign
Transcript: ENSMUST00000209764
Predicted Effect probably benign
Transcript: ENSMUST00000210326
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,805,487 probably benign Het
Amotl1 A T 9: 14,571,715 probably benign Het
Amph A T 13: 19,104,231 T297S possibly damaging Het
Arhgap31 A G 16: 38,623,901 V198A probably damaging Het
Bop1 T C 15: 76,455,572 D216G possibly damaging Het
Cdh13 T C 8: 118,505,671 I38T possibly damaging Het
Clmn T C 12: 104,781,918 T457A probably benign Het
Clstn2 A C 9: 97,541,875 M279R probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Fam83h A T 15: 76,005,055 V208E probably damaging Het
Fer A G 17: 64,138,899 N785S probably benign Het
Fnip1 T C 11: 54,487,763 L225P probably damaging Het
Gbp11 C T 5: 105,327,508 V325M possibly damaging Het
Glis1 A G 4: 107,627,561 T418A probably benign Het
Gm13088 A T 4: 143,654,377 C359S probably damaging Het
Hoxa6 C A 6: 52,208,191 C145F possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mbd5 T C 2: 49,278,975 V1156A probably benign Het
Mettl7b T G 10: 128,960,617 T108P possibly damaging Het
Mon2 G A 10: 123,013,472 P1308S probably damaging Het
Mta2 T A 19: 8,947,249 probably benign Het
Nup188 T A 2: 30,329,373 L867* probably null Het
Oca2 G A 7: 56,324,797 probably null Het
Olfr535 T A 7: 140,492,934 C99S probably damaging Het
Olfr794 A G 10: 129,571,150 E165G probably damaging Het
Olfr857 T A 9: 19,713,289 V154E probably benign Het
Plekhh2 A G 17: 84,566,942 probably benign Het
Rhbdd3 T C 11: 5,105,424 probably benign Het
Timeless T A 10: 128,242,386 V255E probably benign Het
Trh A T 6: 92,242,967 S123T probably benign Het
Ugdh C T 5: 65,422,692 A252T probably damaging Het
Zfp619 A G 7: 39,534,864 Y106C probably damaging Het
Zic5 G A 14: 122,459,512 P564S unknown Het
Other mutations in Hook2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Hook2 APN 8 85002497 unclassified probably benign
IGL01161:Hook2 APN 8 84994931 missense probably benign 0.05
IGL01535:Hook2 APN 8 85002989 missense probably benign 0.00
IGL01668:Hook2 APN 8 84993578 missense possibly damaging 0.88
IGL01749:Hook2 APN 8 84993236 critical splice donor site probably null
IGL01750:Hook2 APN 8 84993236 critical splice donor site probably null
IGL01753:Hook2 APN 8 84993236 critical splice donor site probably null
IGL01900:Hook2 APN 8 85001311 unclassified probably benign
IGL02175:Hook2 APN 8 84991402 missense probably damaging 1.00
IGL02350:Hook2 APN 8 84994985 nonsense probably null
IGL02357:Hook2 APN 8 84994985 nonsense probably null
IGL03377:Hook2 APN 8 85001335 nonsense probably null
R0399:Hook2 UTSW 8 84993567 splice site probably benign
R1133:Hook2 UTSW 8 84995804 missense probably damaging 1.00
R2087:Hook2 UTSW 8 85002691 missense probably damaging 0.98
R2277:Hook2 UTSW 8 85002931 nonsense probably null
R2398:Hook2 UTSW 8 84991299 missense probably damaging 0.98
R3406:Hook2 UTSW 8 84993984 splice site probably benign
R4752:Hook2 UTSW 8 85002720 nonsense probably null
R5014:Hook2 UTSW 8 84991377 missense probably damaging 1.00
R5068:Hook2 UTSW 8 84993399 missense possibly damaging 0.81
R5195:Hook2 UTSW 8 84994776 missense probably damaging 1.00
R5360:Hook2 UTSW 8 85001404 missense probably damaging 1.00
R5597:Hook2 UTSW 8 84994028 missense probably benign 0.00
R5614:Hook2 UTSW 8 85002508 missense probably damaging 1.00
R5843:Hook2 UTSW 8 84991283 missense probably damaging 0.99
R5931:Hook2 UTSW 8 84995746 nonsense probably null
R5942:Hook2 UTSW 8 84994780 splice site probably null
R6120:Hook2 UTSW 8 84998125 missense probably damaging 1.00
R6167:Hook2 UTSW 8 84995013 missense probably damaging 1.00
R6936:Hook2 UTSW 8 85002998 missense probably benign 0.04
R6992:Hook2 UTSW 8 85002556 missense probably damaging 1.00
R7058:Hook2 UTSW 8 84997411 missense possibly damaging 0.89
R7101:Hook2 UTSW 8 84997051 missense probably benign
R7177:Hook2 UTSW 8 84991417 missense probably benign 0.07
R8072:Hook2 UTSW 8 84994491 missense probably benign 0.03
Posted On2015-04-16