Incidental Mutation 'IGL02175:Hook2'
ID 283056
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hook2
Ensembl Gene ENSMUSG00000052566
Gene Name hook microtubule tethering protein 2
Synonyms A630054I03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # IGL02175
Quality Score
Status
Chromosome 8
Chromosomal Location 85717232-85729978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85718031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 53 (W53R)
Ref Sequence ENSEMBL: ENSMUSP00000148078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064495] [ENSMUST00000209764] [ENSMUST00000210326]
AlphaFold Q7TMK6
Predicted Effect probably damaging
Transcript: ENSMUST00000064495
AA Change: W53R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566
AA Change: W53R

DomainStartEndE-ValueType
Pfam:HOOK 8 703 2.3e-277 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209764
AA Change: W53R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000210326
AA Change: W53R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
Abcc12 A T 8: 87,261,642 (GRCm39) probably null Het
Adgrf5 A G 17: 43,761,901 (GRCm39) I1199V probably damaging Het
Atm T A 9: 53,391,965 (GRCm39) H1808L probably damaging Het
Cadps C T 14: 12,467,092 (GRCm38) V942M probably damaging Het
Capns1 T C 7: 29,889,957 (GRCm39) D116G probably benign Het
Ccdc110 T G 8: 46,393,660 (GRCm39) M124R probably benign Het
Cdh23 T C 10: 60,167,087 (GRCm39) N1855S possibly damaging Het
Dstyk T A 1: 132,377,129 (GRCm39) L245* probably null Het
Dync2h1 A G 9: 7,111,548 (GRCm39) Y289H possibly damaging Het
Efcab6 G A 15: 83,780,301 (GRCm39) A1044V probably damaging Het
Egr1 T C 18: 34,996,108 (GRCm39) S297P probably benign Het
Ercc6l2 T C 13: 64,017,004 (GRCm39) probably benign Het
Frem2 C T 3: 53,563,020 (GRCm39) A496T possibly damaging Het
Med19 T A 2: 84,509,007 (GRCm39) probably null Het
Mgrn1 A G 16: 4,738,232 (GRCm39) N262S probably benign Het
Nbas T G 12: 13,616,260 (GRCm39) probably null Het
Ndc80 A C 17: 71,818,414 (GRCm39) M314R probably benign Het
Nelfcd A T 2: 174,262,175 (GRCm39) T89S probably benign Het
Nlrp4a A T 7: 26,174,522 (GRCm39) E969D probably damaging Het
Ntrk3 A G 7: 77,896,976 (GRCm39) V687A probably damaging Het
Oc90 A C 15: 65,755,674 (GRCm39) S224R possibly damaging Het
Or4a69 T C 2: 89,312,626 (GRCm39) I284M possibly damaging Het
Plxnb1 C T 9: 108,929,914 (GRCm39) H257Y possibly damaging Het
Prpf3 A G 3: 95,741,419 (GRCm39) V579A probably damaging Het
Rarres1 T C 3: 67,403,089 (GRCm39) N104S probably benign Het
Serpina1d T C 12: 103,731,955 (GRCm39) probably null Het
Sik2 G A 9: 50,806,909 (GRCm39) Q834* probably null Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Snx13 T A 12: 35,182,061 (GRCm39) N703K possibly damaging Het
Spaca9 T C 2: 28,585,936 (GRCm39) I43V probably benign Het
Tor1aip2 T C 1: 155,940,752 (GRCm39) S353P probably damaging Het
Trmt1l T C 1: 151,324,235 (GRCm39) S361P probably benign Het
Trpm2 T C 10: 77,773,741 (GRCm39) H558R probably benign Het
Vmn1r75 T C 7: 11,614,774 (GRCm39) C127R probably damaging Het
Zfp879 A T 11: 50,728,743 (GRCm39) Y84N probably benign Het
Other mutations in Hook2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Hook2 APN 8 85,729,126 (GRCm39) unclassified probably benign
IGL01161:Hook2 APN 8 85,721,560 (GRCm39) missense probably benign 0.05
IGL01535:Hook2 APN 8 85,729,618 (GRCm39) missense probably benign 0.00
IGL01668:Hook2 APN 8 85,720,207 (GRCm39) missense possibly damaging 0.88
IGL01749:Hook2 APN 8 85,719,865 (GRCm39) critical splice donor site probably null
IGL01750:Hook2 APN 8 85,719,865 (GRCm39) critical splice donor site probably null
IGL01753:Hook2 APN 8 85,719,865 (GRCm39) critical splice donor site probably null
IGL01900:Hook2 APN 8 85,727,940 (GRCm39) unclassified probably benign
IGL02157:Hook2 APN 8 85,727,779 (GRCm39) unclassified probably benign
IGL02350:Hook2 APN 8 85,721,614 (GRCm39) nonsense probably null
IGL02357:Hook2 APN 8 85,721,614 (GRCm39) nonsense probably null
IGL03377:Hook2 APN 8 85,727,964 (GRCm39) nonsense probably null
R0399:Hook2 UTSW 8 85,720,196 (GRCm39) splice site probably benign
R1133:Hook2 UTSW 8 85,722,433 (GRCm39) missense probably damaging 1.00
R2087:Hook2 UTSW 8 85,729,320 (GRCm39) missense probably damaging 0.98
R2277:Hook2 UTSW 8 85,729,560 (GRCm39) nonsense probably null
R2398:Hook2 UTSW 8 85,717,928 (GRCm39) missense probably damaging 0.98
R3406:Hook2 UTSW 8 85,720,613 (GRCm39) splice site probably benign
R4752:Hook2 UTSW 8 85,729,349 (GRCm39) nonsense probably null
R5014:Hook2 UTSW 8 85,718,006 (GRCm39) missense probably damaging 1.00
R5068:Hook2 UTSW 8 85,720,028 (GRCm39) missense possibly damaging 0.81
R5195:Hook2 UTSW 8 85,721,405 (GRCm39) missense probably damaging 1.00
R5360:Hook2 UTSW 8 85,728,033 (GRCm39) missense probably damaging 1.00
R5597:Hook2 UTSW 8 85,720,657 (GRCm39) missense probably benign 0.00
R5614:Hook2 UTSW 8 85,729,137 (GRCm39) missense probably damaging 1.00
R5843:Hook2 UTSW 8 85,717,912 (GRCm39) missense probably damaging 0.99
R5931:Hook2 UTSW 8 85,722,375 (GRCm39) nonsense probably null
R5942:Hook2 UTSW 8 85,721,409 (GRCm39) splice site probably null
R6120:Hook2 UTSW 8 85,724,754 (GRCm39) missense probably damaging 1.00
R6167:Hook2 UTSW 8 85,721,642 (GRCm39) missense probably damaging 1.00
R6936:Hook2 UTSW 8 85,729,627 (GRCm39) missense probably benign 0.04
R6992:Hook2 UTSW 8 85,729,185 (GRCm39) missense probably damaging 1.00
R7058:Hook2 UTSW 8 85,724,040 (GRCm39) missense possibly damaging 0.89
R7101:Hook2 UTSW 8 85,723,680 (GRCm39) missense probably benign
R7177:Hook2 UTSW 8 85,718,046 (GRCm39) missense probably benign 0.07
R8072:Hook2 UTSW 8 85,721,120 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16