Incidental Mutation 'IGL01668:Hook2'
ID103362
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: 0.248) question?
Stock #IGL01668
Quality Score
Status
Chromosome8
Chromosomal Location84990603-85003349 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 84993578 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 131 (Y131F)
Ref Sequence ENSEMBL: ENSMUSP00000148078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064495] [ENSMUST00000209764] [ENSMUST00000210326]
Predicted Effect probably benign
Transcript: ENSMUST00000064495
AA Change: Y131F

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566
AA Change: Y131F

DomainStartEndE-ValueType
Pfam:HOOK 8 703 2.3e-277 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209652
Predicted Effect probably benign
Transcript: ENSMUST00000209764
AA Change: Y131F

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210326
AA Change: Y131F

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik G A 7: 29,537,430 noncoding transcript Het
Ap3d1 A G 10: 80,719,159 V444A possibly damaging Het
BC022687 T C 12: 112,809,644 S86P probably damaging Het
Chd9 A T 8: 91,026,776 H1799L possibly damaging Het
Cic C T 7: 25,291,204 P1108S possibly damaging Het
Cldn16 T A 16: 26,482,546 Y201* probably null Het
Col6a6 C A 9: 105,709,271 R1850S probably damaging Het
Cryge A G 1: 65,048,698 Y151H probably damaging Het
Dhcr7 T A 7: 143,843,311 V180D probably damaging Het
Dmwd C T 7: 19,081,155 R577W probably damaging Het
Gm5884 A G 6: 128,645,414 noncoding transcript Het
Gm5901 C T 7: 105,377,564 R180C probably benign Het
Hsf1 T C 15: 76,496,962 probably null Het
Ighv1-62-3 A G 12: 115,460,993 probably benign Het
Ikbke T G 1: 131,256,938 D666A probably benign Het
Il1r1 C T 1: 40,313,329 T556I probably benign Het
Larp4 T C 15: 99,987,474 S69P probably damaging Het
Lrrc27 G T 7: 139,227,911 probably benign Het
March2 A C 17: 33,703,096 W97G probably damaging Het
Olfr1066 A G 2: 86,455,402 Y290H probably damaging Het
Olfr1257 C A 2: 89,881,099 P91Q probably benign Het
Olfr1444 A G 19: 12,861,867 I31V probably benign Het
Pah T A 10: 87,578,261 I324N probably damaging Het
Pcdhb7 A G 18: 37,343,152 E447G probably benign Het
Prex2 T C 1: 11,153,645 V731A probably benign Het
Prpsap2 A G 11: 61,755,451 V44A probably benign Het
Rp1 T C 1: 4,345,718 N1724D probably damaging Het
Sap130 A G 18: 31,680,440 N517D probably damaging Het
Slc13a3 A C 2: 165,430,292 F277C probably damaging Het
Snx19 A G 9: 30,427,823 T86A probably benign Het
Tbc1d32 A T 10: 56,123,577 V833D probably benign Het
Washc2 A G 6: 116,262,338 D1290G probably damaging 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
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
IGL02157:Hook2 APN 8 85001150 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 On2014-01-21