Incidental Mutation 'IGL01066:Hook3'
ID 51710
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 # IGL01066
Quality Score
Status
Chromosome 8
Chromosomal Location 26021421-26119224 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 26048298 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 525 (E525A)
Ref Sequence ENSEMBL: ENSMUSP00000046788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037182] [ENSMUST00000147613]
AlphaFold Q8BUK6
Predicted Effect probably damaging
Transcript: ENSMUST00000037182
AA Change: E525A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: E525A

DomainStartEndE-ValueType
Pfam:HOOK 12 710 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147613
SMART Domains Protein: ENSMUSP00000115008
Gene: ENSMUSG00000037234

DomainStartEndE-ValueType
Pfam:HOOK 1 194 1.1e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152144
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 (GRCm38) V124I probably damaging Het
2300003K06Rik T A 11: 99,837,628 (GRCm38) R130* probably null Het
9030624J02Rik T A 7: 118,773,011 (GRCm38) probably null Het
Abca12 T A 1: 71,353,730 (GRCm38) R117W possibly damaging Het
Agrn A G 4: 156,177,343 (GRCm38) S497P probably benign Het
Alpk1 A T 3: 127,680,225 (GRCm38) S710T probably benign Het
Anapc4 T A 5: 52,857,209 (GRCm38) N471K probably benign Het
Ano3 A T 2: 110,661,445 (GRCm38) M879K probably null Het
Apoe A G 7: 19,696,600 (GRCm38) L239P probably damaging Het
Ash1l T C 3: 88,984,635 (GRCm38) Y1274H probably damaging Het
B3glct C T 5: 149,709,425 (GRCm38) T80I possibly damaging Het
Ccdc146 T C 5: 21,319,542 (GRCm38) T271A probably benign Het
Chd8 T A 14: 52,217,766 (GRCm38) N1088I probably damaging Het
Csnk1g2 T C 10: 80,634,647 (GRCm38) probably benign Het
Daxx T A 17: 33,913,893 (GRCm38) V627D probably benign Het
Dnai7 C T 6: 145,176,222 (GRCm38) G624S probably damaging Het
Dpy19l3 A G 7: 35,692,767 (GRCm38) probably benign Het
Enc1 A G 13: 97,245,314 (GRCm38) I111V probably benign Het
Ep400 A G 5: 110,668,199 (GRCm38) probably benign Het
Fig4 T C 10: 41,285,417 (GRCm38) probably benign Het
Fkbp7 A T 2: 76,672,908 (GRCm38) L36* probably null Het
Fxn A T 19: 24,267,298 (GRCm38) probably benign Het
Gm10152 C T 7: 144,763,256 (GRCm38) P16L unknown Het
Hivep2 T C 10: 14,149,024 (GRCm38) V2194A possibly damaging Het
Icam1 A G 9: 21,016,105 (GRCm38) probably null Het
Ifngr1 C T 10: 19,609,198 (GRCm38) T315I probably damaging Het
Igsf10 A G 3: 59,327,782 (GRCm38) probably null Het
Irag2 T C 6: 145,160,955 (GRCm38) S222P probably damaging Het
Krt87 A G 15: 101,438,385 (GRCm38) probably null Het
Lama1 T A 17: 67,743,326 (GRCm38) C311S probably damaging Het
Lig3 T A 11: 82,797,315 (GRCm38) M714K possibly damaging Het
Lypd5 C T 7: 24,353,485 (GRCm38) T189I probably benign Het
Mapk8ip3 C T 17: 24,901,718 (GRCm38) G807D probably benign Het
Met T C 6: 17,535,105 (GRCm38) probably null Het
Nlrp4g C A 9: 124,349,526 (GRCm38) noncoding transcript Het
Nlrp6 T A 7: 140,921,796 (GRCm38) V62D possibly damaging Het
Nme7 A G 1: 164,345,430 (GRCm38) probably null Het
Or2y1f T C 11: 49,293,630 (GRCm38) I103T possibly damaging Het
Or5m9 A G 2: 86,047,258 (GRCm38) R259G probably damaging Het
Or5p79 T C 7: 108,621,857 (GRCm38) F15S probably damaging Het
Pcnx1 G A 12: 81,992,021 (GRCm38) R2020Q possibly damaging Het
Pdzd2 T A 15: 12,402,632 (GRCm38) probably benign Het
Pi4ka A G 16: 17,348,773 (GRCm38) probably benign Het
Pkdrej T G 15: 85,816,159 (GRCm38) I1859L probably benign Het
Plcg1 A T 2: 160,754,398 (GRCm38) H638L probably damaging Het
Polr1b C T 2: 129,119,152 (GRCm38) S677L probably damaging Het
Ppef2 A G 5: 92,234,237 (GRCm38) L533P probably damaging Het
Sh3rf1 T A 8: 61,329,336 (GRCm38) W171R probably damaging Het
Son T C 16: 91,660,136 (GRCm38) probably benign Het
Sycp1 A G 3: 102,920,634 (GRCm38) S266P probably damaging Het
Tedc1 A G 12: 113,163,150 (GRCm38) E344G probably damaging Het
Tkfc T C 19: 10,594,528 (GRCm38) I381M probably benign Het
Tmprss6 T C 15: 78,442,434 (GRCm38) D1G probably null Het
Ttn T C 2: 76,752,426 (GRCm38) T22708A probably damaging Het
Ubtf T C 11: 102,308,884 (GRCm38) probably benign Het
Vwc2l T C 1: 70,728,911 (GRCm38) F45L probably damaging Het
Xpo7 T C 14: 70,701,755 (GRCm38) T154A probably benign Het
Yars2 C T 16: 16,306,542 (GRCm38) R338* probably null Het
Other mutations in Hook3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00695:Hook3 APN 8 26,059,250 (GRCm38) missense possibly damaging 0.46
IGL01145:Hook3 APN 8 26,059,344 (GRCm38) missense probably benign 0.00
IGL01514:Hook3 APN 8 26,088,189 (GRCm38) missense possibly damaging 0.69
IGL01727:Hook3 APN 8 26,070,159 (GRCm38) missense probably benign 0.00
IGL01832:Hook3 APN 8 26,072,365 (GRCm38) missense possibly damaging 0.87
IGL01874:Hook3 APN 8 26,039,732 (GRCm38) missense possibly damaging 0.71
IGL01931:Hook3 APN 8 26,088,055 (GRCm38) splice site probably benign
IGL01948:Hook3 APN 8 26,059,312 (GRCm38) missense possibly damaging 0.95
IGL02209:Hook3 APN 8 26,070,265 (GRCm38) missense probably damaging 0.99
IGL02675:Hook3 APN 8 26,061,434 (GRCm38) missense possibly damaging 0.64
IGL02750:Hook3 APN 8 26,095,754 (GRCm38) splice site probably benign
Rufio UTSW 8 26,034,940 (GRCm38) nonsense probably null
R0384:Hook3 UTSW 8 26,044,235 (GRCm38) splice site probably null
R0600:Hook3 UTSW 8 26,118,986 (GRCm38) missense probably benign
R1037:Hook3 UTSW 8 26,072,350 (GRCm38) missense possibly damaging 0.92
R1413:Hook3 UTSW 8 26,038,106 (GRCm38) missense probably damaging 0.98
R1563:Hook3 UTSW 8 26,110,752 (GRCm38) missense probably benign 0.06
R1767:Hook3 UTSW 8 26,071,056 (GRCm38) critical splice donor site probably null
R1806:Hook3 UTSW 8 26,068,659 (GRCm38) missense probably damaging 1.00
R2025:Hook3 UTSW 8 26,038,098 (GRCm38) missense probably damaging 0.96
R2026:Hook3 UTSW 8 26,038,098 (GRCm38) missense probably damaging 0.96
R2027:Hook3 UTSW 8 26,038,098 (GRCm38) missense probably damaging 0.96
R2091:Hook3 UTSW 8 26,059,394 (GRCm38) splice site probably benign
R2153:Hook3 UTSW 8 26,070,197 (GRCm38) missense probably damaging 1.00
R2184:Hook3 UTSW 8 26,118,983 (GRCm38) missense probably benign 0.00
R4586:Hook3 UTSW 8 26,032,011 (GRCm38) missense probably damaging 0.98
R4863:Hook3 UTSW 8 26,038,029 (GRCm38) missense probably damaging 1.00
R4971:Hook3 UTSW 8 26,082,579 (GRCm38) missense probably benign 0.22
R5023:Hook3 UTSW 8 26,032,019 (GRCm38) frame shift probably null
R5026:Hook3 UTSW 8 26,110,757 (GRCm38) missense probably damaging 0.98
R5068:Hook3 UTSW 8 26,095,757 (GRCm38) critical splice donor site probably null
R5253:Hook3 UTSW 8 26,072,291 (GRCm38) missense probably benign
R5383:Hook3 UTSW 8 26,118,989 (GRCm38) missense probably benign 0.01
R5437:Hook3 UTSW 8 26,061,422 (GRCm38) missense probably benign 0.05
R5528:Hook3 UTSW 8 26,072,293 (GRCm38) missense probably damaging 1.00
R5551:Hook3 UTSW 8 26,068,611 (GRCm38) missense possibly damaging 0.75
R5846:Hook3 UTSW 8 26,044,327 (GRCm38) intron probably benign
R5907:Hook3 UTSW 8 26,044,278 (GRCm38) intron probably benign
R6082:Hook3 UTSW 8 26,110,785 (GRCm38) missense probably benign 0.00
R6124:Hook3 UTSW 8 26,059,272 (GRCm38) missense probably benign 0.20
R6301:Hook3 UTSW 8 26,034,940 (GRCm38) nonsense probably null
R6314:Hook3 UTSW 8 26,088,108 (GRCm38) missense probably benign
R6448:Hook3 UTSW 8 26,093,664 (GRCm38) missense probably benign 0.02
R6810:Hook3 UTSW 8 26,032,422 (GRCm38) splice site probably null
R7168:Hook3 UTSW 8 26,071,086 (GRCm38) missense probably benign 0.02
R7856:Hook3 UTSW 8 26,035,221 (GRCm38) missense probably damaging 1.00
R7988:Hook3 UTSW 8 26,073,647 (GRCm38) missense probably benign 0.02
R8079:Hook3 UTSW 8 26,088,058 (GRCm38) critical splice donor site probably null
R9121:Hook3 UTSW 8 26,035,167 (GRCm38) missense probably damaging 1.00
R9223:Hook3 UTSW 8 26,032,524 (GRCm38) missense
R9244:Hook3 UTSW 8 26,071,056 (GRCm38) critical splice donor site probably null
R9246:Hook3 UTSW 8 26,072,291 (GRCm38) missense probably benign
Posted On 2013-06-21