Incidental Mutation 'IGL00921:Hook2'
ID28018
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? Possibly non essential (E-score: 0.278) question?
Stock #IGL00921
Quality Score
Status
Chromosome8
Chromosomal Location84990603-85003349 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 85002497 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059072] [ENSMUST00000064495] [ENSMUST00000209322] [ENSMUST00000209421] [ENSMUST00000209764] [ENSMUST00000210326]
Predicted Effect probably benign
Transcript: ENSMUST00000059072
SMART Domains Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819

DomainStartEndE-ValueType
Pfam:Bestrophin 8 316 5.8e-118 PFAM
low complexity region 340 352 N/A INTRINSIC
low complexity region 408 417 N/A INTRINSIC
low complexity region 428 447 N/A INTRINSIC
low complexity region 457 479 N/A INTRINSIC
low complexity region 484 501 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064495
SMART Domains Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566

DomainStartEndE-ValueType
Pfam:HOOK 8 703 2.3e-277 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209322
Predicted Effect probably benign
Transcript: ENSMUST00000209421
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,285,729 I1530T probably damaging Het
Actb T C 5: 142,904,436 E237G probably damaging Het
Atrnl1 A G 19: 57,702,153 E931G probably damaging Het
Cenpc1 T C 5: 86,037,528 T375A probably benign Het
D1Pas1 A G 1: 186,968,786 D304G probably benign Het
Ddx49 G A 8: 70,294,756 Q345* probably null Het
Dnttip2 A T 3: 122,275,290 K51N probably benign Het
Fxr2 A G 11: 69,652,240 E621G probably damaging Het
Grhpr A G 4: 44,988,991 D216G probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hspbp1 A G 7: 4,664,751 S248P probably damaging Het
Kat6a C T 8: 22,940,263 P1878L unknown Het
Klrg1 A T 6: 122,282,752 D20E probably benign Het
Layn G A 9: 51,057,408 T345I probably damaging Het
Mpi G A 9: 57,552,266 L9F probably damaging Het
Nbn T C 4: 15,963,833 V78A possibly damaging Het
Pkdrej A G 15: 85,817,226 I1503T probably damaging Het
Pou2f2 C A 7: 25,092,700 E577* probably null Het
Prim2 G T 1: 33,512,160 H292Q probably damaging Het
Tg A G 15: 66,764,453 N630D probably benign Het
Trim80 A G 11: 115,447,664 N440S probably benign Het
Ttn T C 2: 76,936,402 S3111G probably damaging Het
Ubash3a A G 17: 31,228,186 T339A probably benign Het
Zbtb21 A C 16: 97,952,022 S354A probably damaging Het
Zfp335 T C 2: 164,894,776 T980A possibly damaging Het
Other mutations in Hook2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2013-04-17