Incidental Mutation 'IGL01145:Hook3'
ID 51832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hook3
Ensembl Gene ENSMUSG00000037234
Gene Name hook microtubule tethering protein 3
Synonyms E330005F07Rik, 5830454D03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01145
Quality Score
Status
Chromosome 8
Chromosomal Location 26511449-26609252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26549372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 157 (M157I)
Ref Sequence ENSEMBL: ENSMUSP00000115008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037182] [ENSMUST00000147613]
AlphaFold Q8BUK6
Predicted Effect probably benign
Transcript: ENSMUST00000037182
AA Change: M476I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: M476I

DomainStartEndE-ValueType
Pfam:HOOK 12 710 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147613
AA Change: M157I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115008
Gene: ENSMUSG00000037234
AA Change: M157I

DomainStartEndE-ValueType
Pfam:HOOK 1 194 1.1e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210389
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A C 7: 78,749,030 (GRCm39) D1267A probably damaging Het
Ankrd44 A G 1: 54,801,418 (GRCm39) probably null Het
Arap3 T C 18: 38,122,232 (GRCm39) M619V probably benign Het
C8b A T 4: 104,637,777 (GRCm39) Y83F probably benign Het
Capn15 A G 17: 26,182,024 (GRCm39) V595A probably damaging Het
Cbx1 A T 11: 96,692,392 (GRCm39) D93V probably benign Het
Cyp2c66 G T 19: 39,159,405 (GRCm39) E285D probably benign Het
Dkk4 T A 8: 23,115,402 (GRCm39) V84D probably damaging Het
Dnah17 T A 11: 117,937,999 (GRCm39) I3343F possibly damaging Het
Dus3l T C 17: 57,074,627 (GRCm39) probably benign Het
Ecpas A C 4: 58,811,501 (GRCm39) D1467E probably null Het
Eif6 A G 2: 155,668,355 (GRCm39) probably benign Het
Eya3 A G 4: 132,437,306 (GRCm39) I389V probably damaging Het
Gm5916 A T 9: 36,031,998 (GRCm39) D95E unknown Het
Gucy2d T A 7: 98,099,170 (GRCm39) S329T probably benign Het
Iapp C A 6: 142,249,090 (GRCm39) R48S probably damaging Het
Ints11 A G 4: 155,969,583 (GRCm39) Y153C probably damaging Het
Layn G A 9: 50,985,346 (GRCm39) T62I probably benign Het
Llgl2 A G 11: 115,744,631 (GRCm39) H876R probably benign Het
Lrp4 T C 2: 91,317,396 (GRCm39) I840T probably damaging Het
Myo9a T A 9: 59,762,658 (GRCm39) F796L probably benign Het
Naip1 A G 13: 100,545,629 (GRCm39) S1300P probably benign Het
Nfat5 T A 8: 108,093,847 (GRCm39) I602N probably damaging Het
Omt2a T C 9: 78,220,238 (GRCm39) M64V probably benign Het
Pcnx1 T C 12: 82,038,809 (GRCm39) S2025P probably damaging Het
Pemt A G 11: 59,874,293 (GRCm39) L62P probably damaging Het
Polrmt A G 10: 79,576,971 (GRCm39) V399A probably benign Het
Rasgrp4 T C 7: 28,850,898 (GRCm39) S77P possibly damaging Het
Rrm2b G A 15: 37,944,804 (GRCm39) P111L probably damaging Het
Slc10a4-ps A T 5: 72,743,547 (GRCm39) probably null Het
Thap12 A G 7: 98,362,110 (GRCm39) *121W probably null Het
Tnik A G 3: 28,658,316 (GRCm39) probably benign Het
Trio G A 15: 27,818,253 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,310,407 (GRCm39) E930G probably damaging Het
Zfp335 G T 2: 164,749,422 (GRCm39) T299K probably benign Het
Other mutations in Hook3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00695:Hook3 APN 8 26,549,278 (GRCm39) missense possibly damaging 0.46
IGL01066:Hook3 APN 8 26,538,326 (GRCm39) missense probably damaging 1.00
IGL01514:Hook3 APN 8 26,578,217 (GRCm39) missense possibly damaging 0.69
IGL01727:Hook3 APN 8 26,560,187 (GRCm39) missense probably benign 0.00
IGL01832:Hook3 APN 8 26,562,393 (GRCm39) missense possibly damaging 0.87
IGL01874:Hook3 APN 8 26,529,760 (GRCm39) missense possibly damaging 0.71
IGL01931:Hook3 APN 8 26,578,083 (GRCm39) splice site probably benign
IGL01948:Hook3 APN 8 26,549,340 (GRCm39) missense possibly damaging 0.95
IGL02209:Hook3 APN 8 26,560,293 (GRCm39) missense probably damaging 0.99
IGL02675:Hook3 APN 8 26,551,462 (GRCm39) missense possibly damaging 0.64
IGL02750:Hook3 APN 8 26,585,782 (GRCm39) splice site probably benign
Rufio UTSW 8 26,524,968 (GRCm39) nonsense probably null
R0384:Hook3 UTSW 8 26,534,263 (GRCm39) splice site probably null
R0600:Hook3 UTSW 8 26,609,014 (GRCm39) missense probably benign
R1037:Hook3 UTSW 8 26,562,378 (GRCm39) missense possibly damaging 0.92
R1413:Hook3 UTSW 8 26,528,134 (GRCm39) missense probably damaging 0.98
R1563:Hook3 UTSW 8 26,600,780 (GRCm39) missense probably benign 0.06
R1767:Hook3 UTSW 8 26,561,084 (GRCm39) critical splice donor site probably null
R1806:Hook3 UTSW 8 26,558,687 (GRCm39) missense probably damaging 1.00
R2025:Hook3 UTSW 8 26,528,126 (GRCm39) missense probably damaging 0.96
R2026:Hook3 UTSW 8 26,528,126 (GRCm39) missense probably damaging 0.96
R2027:Hook3 UTSW 8 26,528,126 (GRCm39) missense probably damaging 0.96
R2091:Hook3 UTSW 8 26,549,422 (GRCm39) splice site probably benign
R2153:Hook3 UTSW 8 26,560,225 (GRCm39) missense probably damaging 1.00
R2184:Hook3 UTSW 8 26,609,011 (GRCm39) missense probably benign 0.00
R4586:Hook3 UTSW 8 26,522,039 (GRCm39) missense probably damaging 0.98
R4863:Hook3 UTSW 8 26,528,057 (GRCm39) missense probably damaging 1.00
R4971:Hook3 UTSW 8 26,572,607 (GRCm39) missense probably benign 0.22
R5023:Hook3 UTSW 8 26,522,047 (GRCm39) frame shift probably null
R5026:Hook3 UTSW 8 26,600,785 (GRCm39) missense probably damaging 0.98
R5068:Hook3 UTSW 8 26,585,785 (GRCm39) critical splice donor site probably null
R5253:Hook3 UTSW 8 26,562,319 (GRCm39) missense probably benign
R5383:Hook3 UTSW 8 26,609,017 (GRCm39) missense probably benign 0.01
R5437:Hook3 UTSW 8 26,551,450 (GRCm39) missense probably benign 0.05
R5528:Hook3 UTSW 8 26,562,321 (GRCm39) missense probably damaging 1.00
R5551:Hook3 UTSW 8 26,558,639 (GRCm39) missense possibly damaging 0.75
R5846:Hook3 UTSW 8 26,534,355 (GRCm39) intron probably benign
R5907:Hook3 UTSW 8 26,534,306 (GRCm39) intron probably benign
R6082:Hook3 UTSW 8 26,600,813 (GRCm39) missense probably benign 0.00
R6124:Hook3 UTSW 8 26,549,300 (GRCm39) missense probably benign 0.20
R6301:Hook3 UTSW 8 26,524,968 (GRCm39) nonsense probably null
R6314:Hook3 UTSW 8 26,578,136 (GRCm39) missense probably benign
R6448:Hook3 UTSW 8 26,583,692 (GRCm39) missense probably benign 0.02
R6810:Hook3 UTSW 8 26,522,450 (GRCm39) splice site probably null
R7168:Hook3 UTSW 8 26,561,114 (GRCm39) missense probably benign 0.02
R7856:Hook3 UTSW 8 26,525,249 (GRCm39) missense probably damaging 1.00
R7988:Hook3 UTSW 8 26,563,675 (GRCm39) missense probably benign 0.02
R8079:Hook3 UTSW 8 26,578,086 (GRCm39) critical splice donor site probably null
R9121:Hook3 UTSW 8 26,525,195 (GRCm39) missense probably damaging 1.00
R9223:Hook3 UTSW 8 26,522,552 (GRCm39) missense
R9244:Hook3 UTSW 8 26,561,084 (GRCm39) critical splice donor site probably null
R9246:Hook3 UTSW 8 26,562,319 (GRCm39) missense probably benign
Posted On 2013-06-21