Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01668:Hook2'

103362

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hook2

Ensembl Gene

ENSMUSG00000052566

Gene Name

hook microtubule tethering protein 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

IGL01668

Quality Score

Status

Chromosome

Chromosomal Location

84990603-85003349 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84993578 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 131 (Y131F)

Ref Sequence

ENSEMBL: ENSMUSP00000148078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064495] [ENSMUST00000209764] [ENSMUST00000210326]

Predicted Effect

probably benign
Transcript: ENSMUST00000064495
AA Change: Y131F

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566
AA Change: Y131F

Domain	Start	End	E-Value	Type
Pfam:HOOK	8	703	2.3e-277	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209652

Predicted Effect

probably benign
Transcript: ENSMUST00000209764
AA Change: Y131F

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210326
AA Change: Y131F

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	G	A	7: 29,537,430		noncoding transcript	Het
Ap3d1	A	G	10: 80,719,159	V444A	possibly damaging	Het
BC022687	T	C	12: 112,809,644	S86P	probably damaging	Het
Chd9	A	T	8: 91,026,776	H1799L	possibly damaging	Het
Cic	C	T	7: 25,291,204	P1108S	possibly damaging	Het
Cldn16	T	A	16: 26,482,546	Y201*	probably null	Het
Col6a6	C	A	9: 105,709,271	R1850S	probably damaging	Het
Cryge	A	G	1: 65,048,698	Y151H	probably damaging	Het
Dhcr7	T	A	7: 143,843,311	V180D	probably damaging	Het
Dmwd	C	T	7: 19,081,155	R577W	probably damaging	Het
Gm5884	A	G	6: 128,645,414		noncoding transcript	Het
Gm5901	C	T	7: 105,377,564	R180C	probably benign	Het
Hsf1	T	C	15: 76,496,962		probably null	Het
Ighv1-62-3	A	G	12: 115,460,993		probably benign	Het
Ikbke	T	G	1: 131,256,938	D666A	probably benign	Het
Il1r1	C	T	1: 40,313,329	T556I	probably benign	Het
Larp4	T	C	15: 99,987,474	S69P	probably damaging	Het
Lrrc27	G	T	7: 139,227,911		probably benign	Het
March2	A	C	17: 33,703,096	W97G	probably damaging	Het
Olfr1066	A	G	2: 86,455,402	Y290H	probably damaging	Het
Olfr1257	C	A	2: 89,881,099	P91Q	probably benign	Het
Olfr1444	A	G	19: 12,861,867	I31V	probably benign	Het
Pah	T	A	10: 87,578,261	I324N	probably damaging	Het
Pcdhb7	A	G	18: 37,343,152	E447G	probably benign	Het
Prex2	T	C	1: 11,153,645	V731A	probably benign	Het
Prpsap2	A	G	11: 61,755,451	V44A	probably benign	Het
Rp1	T	C	1: 4,345,718	N1724D	probably damaging	Het
Sap130	A	G	18: 31,680,440	N517D	probably damaging	Het
Slc13a3	A	C	2: 165,430,292	F277C	probably damaging	Het
Snx19	A	G	9: 30,427,823	T86A	probably benign	Het
Tbc1d32	A	T	10: 56,123,577	V833D	probably benign	Het
Washc2	A	G	6: 116,262,338	D1290G	probably damaging	Het

Other mutations in Hook2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Hook2	APN	8	85002497	unclassified	probably benign
IGL01161:Hook2	APN	8	84994931	missense	probably benign	0.05
IGL01535:Hook2	APN	8	85002989	missense	probably benign	0.00
IGL01749:Hook2	APN	8	84993236	critical splice donor site	probably null
IGL01750:Hook2	APN	8	84993236	critical splice donor site	probably null
IGL01753:Hook2	APN	8	84993236	critical splice donor site	probably null
IGL01900:Hook2	APN	8	85001311	unclassified	probably benign
IGL02157:Hook2	APN	8	85001150	unclassified	probably benign
IGL02175:Hook2	APN	8	84991402	missense	probably damaging	1.00
IGL02350:Hook2	APN	8	84994985	nonsense	probably null
IGL02357:Hook2	APN	8	84994985	nonsense	probably null
IGL03377:Hook2	APN	8	85001335	nonsense	probably null
R0399:Hook2	UTSW	8	84993567	splice site	probably benign
R1133:Hook2	UTSW	8	84995804	missense	probably damaging	1.00
R2087:Hook2	UTSW	8	85002691	missense	probably damaging	0.98
R2277:Hook2	UTSW	8	85002931	nonsense	probably null
R2398:Hook2	UTSW	8	84991299	missense	probably damaging	0.98
R3406:Hook2	UTSW	8	84993984	splice site	probably benign
R4752:Hook2	UTSW	8	85002720	nonsense	probably null
R5014:Hook2	UTSW	8	84991377	missense	probably damaging	1.00
R5068:Hook2	UTSW	8	84993399	missense	possibly damaging	0.81
R5195:Hook2	UTSW	8	84994776	missense	probably damaging	1.00
R5360:Hook2	UTSW	8	85001404	missense	probably damaging	1.00
R5597:Hook2	UTSW	8	84994028	missense	probably benign	0.00
R5614:Hook2	UTSW	8	85002508	missense	probably damaging	1.00
R5843:Hook2	UTSW	8	84991283	missense	probably damaging	0.99
R5931:Hook2	UTSW	8	84995746	nonsense	probably null
R5942:Hook2	UTSW	8	84994780	splice site	probably null
R6120:Hook2	UTSW	8	84998125	missense	probably damaging	1.00
R6167:Hook2	UTSW	8	84995013	missense	probably damaging	1.00
R6936:Hook2	UTSW	8	85002998	missense	probably benign	0.04
R6992:Hook2	UTSW	8	85002556	missense	probably damaging	1.00
R7058:Hook2	UTSW	8	84997411	missense	possibly damaging	0.89
R7101:Hook2	UTSW	8	84997051	missense	probably benign
R7177:Hook2	UTSW	8	84991417	missense	probably benign	0.07
R8072:Hook2	UTSW	8	84994491	missense	probably benign	0.03

Posted On

2014-01-21