Incidental Mutation 'R2026:Hook3'
ID 220626
Institutional Source Beutler Lab
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 # R2026 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 26511449-26609252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26528126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 588 (E588G)
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: E588G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: E588G

DomainStartEndE-ValueType
Pfam:HOOK 12 710 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147613
AA Change: E228G

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115008
Gene: ENSMUSG00000037234
AA Change: E228G

DomainStartEndE-ValueType
Pfam:HOOK 1 194 1.1e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152144
Predicted Effect probably benign
Transcript: ENSMUST00000211683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211777
Meta Mutation Damage Score 0.0713 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,880,205 (GRCm39) K269R probably benign Het
Abcc12 A G 8: 87,284,862 (GRCm39) V251A probably benign Het
Avil G A 10: 126,847,742 (GRCm39) G556S probably damaging Het
C3 T C 17: 57,525,562 (GRCm39) Y898C probably damaging Het
Cacng2 A G 15: 77,879,720 (GRCm39) F201L possibly damaging Het
Casp7 T A 19: 56,424,830 (GRCm39) I183N probably damaging Het
Cntn3 A T 6: 102,397,388 (GRCm39) W62R probably damaging Het
Ctrb1 T C 8: 112,415,317 (GRCm39) N119S probably benign Het
Cyp3a59 G A 5: 146,033,098 (GRCm39) V157M probably damaging Het
Dhfr G T 13: 92,502,279 (GRCm39) G117* probably null Het
Dido1 A T 2: 180,330,974 (GRCm39) L158* probably null Het
Dlg2 C A 7: 91,614,931 (GRCm39) P290Q probably damaging Het
Dnah3 T A 7: 119,638,629 (GRCm39) Q1240L probably damaging Het
Exd1 A T 2: 119,350,786 (GRCm39) S492T probably benign Het
Fermt1 T C 2: 132,760,445 (GRCm39) I415M probably benign Het
Fsip2 A G 2: 82,819,788 (GRCm39) T5174A possibly damaging Het
Fuca2 T G 10: 13,388,391 (GRCm39) V389G probably damaging Het
Gm14412 A T 2: 177,008,898 (GRCm39) H50Q possibly damaging Het
Gm5129 G A 5: 29,940,732 (GRCm39) probably benign Het
Hif3a T C 7: 16,778,322 (GRCm39) R437G possibly damaging Het
Hs1bp3 A G 12: 8,387,738 (GRCm39) E301G probably benign Het
Icam2 A G 11: 106,273,268 (GRCm39) F15L probably benign Het
Ice2 T C 9: 69,323,607 (GRCm39) S701P probably benign Het
Igf2bp1 A G 11: 95,864,996 (GRCm39) V151A possibly damaging Het
Lig4 A T 8: 10,022,436 (GRCm39) L448Q probably damaging Het
Man2b1 G C 8: 85,821,964 (GRCm39) W726C probably damaging Het
Mepe T C 5: 104,474,957 (GRCm39) S13P possibly damaging Het
Msh6 C T 17: 88,297,771 (GRCm39) H1264Y probably damaging Het
Ncoa1 A T 12: 4,317,647 (GRCm39) S1228R probably benign Het
Ndufa10 A G 1: 92,367,614 (GRCm39) Y339H probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Nutm2 A G 13: 50,628,856 (GRCm39) H640R probably benign Het
Or11i1 T C 3: 106,729,027 (GRCm39) I283V probably benign Het
Or2t1 T C 14: 14,328,891 (GRCm38) V260A probably benign Het
Or51ac3 T A 7: 103,214,084 (GRCm39) Y134F probably damaging Het
Or5b123 T A 19: 13,596,945 (GRCm39) C140S probably damaging Het
Or5w1b G T 2: 87,475,753 (GRCm39) A238E probably damaging Het
Or6c211 T A 10: 129,506,334 (GRCm39) D18V probably damaging Het
Pde1c C T 6: 56,157,175 (GRCm39) V162I probably damaging Het
Pdss2 A T 10: 43,269,871 (GRCm39) N238I possibly damaging Het
Pfas C T 11: 68,884,783 (GRCm39) G473E probably damaging Het
Pkn1 A G 8: 84,398,007 (GRCm39) V795A probably damaging Het
Polq A G 16: 36,883,107 (GRCm39) D1757G possibly damaging Het
Popdc3 T C 10: 45,190,951 (GRCm39) W21R probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rfc1 G T 5: 65,445,372 (GRCm39) T412K probably damaging Het
Sap130 T C 18: 31,831,627 (GRCm39) S706P possibly damaging Het
Scgn T C 13: 24,175,047 (GRCm39) probably benign Het
Smad7 T C 18: 75,527,225 (GRCm39) V357A probably damaging Het
Snrnp48 G T 13: 38,393,862 (GRCm39) A56S possibly damaging Het
Sptbn1 G T 11: 30,054,559 (GRCm39) A2178E probably benign Het
Syn2 C T 6: 115,255,212 (GRCm39) T508I probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmtc4 T C 14: 123,158,677 (GRCm39) N682S probably benign Het
Trpm7 T C 2: 126,654,658 (GRCm39) K1427E probably benign Het
Trrap A G 5: 144,739,854 (GRCm39) I1118V possibly damaging Het
Tslp A T 18: 32,948,725 (GRCm39) I37L probably benign Het
Ttll3 G A 6: 113,375,731 (GRCm39) V297M probably damaging Het
Ttn T C 2: 76,540,713 (GRCm39) D34091G possibly damaging Het
Txndc11 CCCGCCGCCGCCGCCGC CCCGCCGCCGCCGC 16: 10,952,338 (GRCm39) probably benign Het
Ube3a T C 7: 58,953,474 (GRCm39) F803L probably damaging Het
Ubn1 A G 16: 4,882,514 (GRCm39) E325G probably damaging Het
Wfikkn2 A G 11: 94,129,779 (GRCm39) W121R possibly damaging Het
Zfp579 C A 7: 4,996,520 (GRCm39) E464* probably null Het
Zfp616 A T 11: 73,974,413 (GRCm39) L227F possibly damaging 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
IGL01145:Hook3 APN 8 26,549,372 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- GCTTAGAAGGCTTCTTTGATGATTT -3'
(R):5'- TCACCTGGAGCTGCTTCT -3'

Sequencing Primer
(F):5'- GAAGGCTTCTTTGATGATTTTCTATG -3'
(R):5'- CTGAAGGCAGCTACAGTGTACTTAC -3'
Posted On 2014-08-25