Incidental Mutation 'IGL01514:Hook3'
ID89320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hook3
Ensembl Gene ENSMUSG00000037234
Gene Namehook microtubule tethering protein 3
SynonymsE330005F07Rik, 5830454D03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01514
Quality Score
Status
Chromosome8
Chromosomal Location26021421-26119224 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 26088189 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Isoleucine at position 91 (L91I)
Ref Sequence ENSEMBL: ENSMUSP00000046788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037182]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037182
AA Change: L91I

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: L91I

DomainStartEndE-ValueType
Pfam:HOOK 12 710 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209542
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs A G 2: 93,839,242 probably benign Het
Actl7b T C 4: 56,740,677 Y227C probably damaging Het
Adam26a A T 8: 43,568,448 H668Q probably benign Het
Alcam A T 16: 52,274,290 probably benign Het
Aldh3a2 C T 11: 61,253,798 probably benign Het
Atp11b G T 3: 35,836,981 G801V probably damaging Het
C3 G A 17: 57,215,866 T1006I probably benign Het
Cacna2d4 T C 6: 119,282,173 probably benign Het
Cldn34b3 A T X: 76,267,074 I83F probably damaging Het
Clec2g G A 6: 128,948,773 M48I probably benign Het
Coch A G 12: 51,603,353 D375G probably damaging Het
Erbb2 C T 11: 98,432,919 T653I possibly damaging Het
Etv3 A G 3: 87,535,718 H203R possibly damaging Het
Fat4 A G 3: 38,949,534 R1801G possibly damaging Het
Gars T A 6: 55,065,520 S413T probably benign Het
Gnat1 G A 9: 107,676,301 R253C possibly damaging Het
Lrp8 T C 4: 107,855,684 Y377H probably damaging Het
Lztr1 G A 16: 17,522,391 probably null Het
Malt1 A G 18: 65,476,400 D825G possibly damaging Het
Nlrp9b T C 7: 20,045,934 probably null Het
Olfr1396 A T 11: 49,113,576 I50N probably damaging Het
Olfr54 C T 11: 51,027,589 R196* probably null Het
Orc1 A G 4: 108,602,052 R473G probably damaging Het
Pard6g G A 18: 80,117,446 R258H probably damaging Het
Pkdrej T C 15: 85,818,063 D1224G possibly damaging Het
Polr1e A G 4: 45,018,723 T18A probably benign Het
Pycrl T C 15: 75,917,004 T240A probably damaging Het
Ralgapa1 C A 12: 55,719,657 G1284V probably damaging Het
Rcl1 T C 19: 29,143,298 probably benign Het
Sec24c C T 14: 20,682,771 T134I possibly damaging Het
Sis A G 3: 72,935,920 probably benign Het
Susd5 A C 9: 114,068,879 probably benign Het
Tlk1 T C 2: 70,752,266 N173S probably benign Het
Uroc1 T C 6: 90,363,100 probably benign Het
Other mutations in Hook3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00695:Hook3 APN 8 26059250 missense possibly damaging 0.46
IGL01066:Hook3 APN 8 26048298 missense probably damaging 1.00
IGL01145:Hook3 APN 8 26059344 missense probably benign 0.00
IGL01727:Hook3 APN 8 26070159 missense probably benign 0.00
IGL01832:Hook3 APN 8 26072365 missense possibly damaging 0.87
IGL01874:Hook3 APN 8 26039732 missense possibly damaging 0.71
IGL01931:Hook3 APN 8 26088055 splice site probably benign
IGL01948:Hook3 APN 8 26059312 missense possibly damaging 0.95
IGL02209:Hook3 APN 8 26070265 missense probably damaging 0.99
IGL02675:Hook3 APN 8 26061434 missense possibly damaging 0.64
IGL02750:Hook3 APN 8 26095754 splice site probably benign
Rufio UTSW 8 26034940 nonsense probably null
R0384:Hook3 UTSW 8 26044235 splice site probably null
R0600:Hook3 UTSW 8 26118986 missense probably benign
R1037:Hook3 UTSW 8 26072350 missense possibly damaging 0.92
R1413:Hook3 UTSW 8 26038106 missense probably damaging 0.98
R1563:Hook3 UTSW 8 26110752 missense probably benign 0.06
R1767:Hook3 UTSW 8 26071056 critical splice donor site probably null
R1806:Hook3 UTSW 8 26068659 missense probably damaging 1.00
R2025:Hook3 UTSW 8 26038098 missense probably damaging 0.96
R2026:Hook3 UTSW 8 26038098 missense probably damaging 0.96
R2027:Hook3 UTSW 8 26038098 missense probably damaging 0.96
R2091:Hook3 UTSW 8 26059394 splice site probably benign
R2153:Hook3 UTSW 8 26070197 missense probably damaging 1.00
R2184:Hook3 UTSW 8 26118983 missense probably benign 0.00
R4586:Hook3 UTSW 8 26032011 missense probably damaging 0.98
R4863:Hook3 UTSW 8 26038029 missense probably damaging 1.00
R4971:Hook3 UTSW 8 26082579 missense probably benign 0.22
R5023:Hook3 UTSW 8 26032019 frame shift probably null
R5026:Hook3 UTSW 8 26110757 missense probably damaging 0.98
R5068:Hook3 UTSW 8 26095757 critical splice donor site probably null
R5253:Hook3 UTSW 8 26072291 missense probably benign
R5383:Hook3 UTSW 8 26118989 missense probably benign 0.01
R5437:Hook3 UTSW 8 26061422 missense probably benign 0.05
R5528:Hook3 UTSW 8 26072293 missense probably damaging 1.00
R5551:Hook3 UTSW 8 26068611 missense possibly damaging 0.75
R5846:Hook3 UTSW 8 26044327 intron probably benign
R5907:Hook3 UTSW 8 26044278 intron probably benign
R6082:Hook3 UTSW 8 26110785 missense probably benign 0.00
R6124:Hook3 UTSW 8 26059272 missense probably benign 0.20
R6301:Hook3 UTSW 8 26034940 nonsense probably null
R6314:Hook3 UTSW 8 26088108 missense probably benign
R6448:Hook3 UTSW 8 26093664 missense probably benign 0.02
R6810:Hook3 UTSW 8 26032422 splice site probably null
R7168:Hook3 UTSW 8 26071086 missense probably benign 0.02
R7856:Hook3 UTSW 8 26035221 missense probably damaging 1.00
R8079:Hook3 UTSW 8 26088058 critical splice donor site probably null
Posted On2013-12-03