Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03377:Hook2'

420552

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: 0.241) question?

Stock #

IGL03377

Quality Score

Status

Chromosome

Chromosomal Location

85717232-85729978 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 85727964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 554 (E554*)

Ref Sequence

ENSEMBL: ENSMUSP00000148237 (fasta)

Gene Model

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

AlphaFold

Q7TMK6

Predicted Effect

probably null
Transcript: ENSMUST00000064495
AA Change: E578*

SMART Domains

Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566
AA Change: E578*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209652

Predicted Effect

probably null
Transcript: ENSMUST00000209764
AA Change: E554*

Predicted Effect

probably benign
Transcript: ENSMUST00000210326

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,096,256 (GRCm39)	I489L	probably benign	Het
Acox3	T	C	5: 35,751,676 (GRCm39)	L237P	probably damaging	Het
Ahi1	T	G	10: 20,893,903 (GRCm39)	I878S	possibly damaging	Het
Alox15	T	A	11: 70,240,488 (GRCm39)	Y231F	probably damaging	Het
Asxl1	A	T	2: 153,238,700 (GRCm39)	K342M	probably damaging	Het
Atl2	T	C	17: 80,172,519 (GRCm39)	I150M	probably damaging	Het
Bag6	T	C	17: 35,363,958 (GRCm39)	Y822H	probably damaging	Het
Ccdc171	T	C	4: 83,581,754 (GRCm39)	Y628H	probably damaging	Het
Ceacam5	T	A	7: 17,449,056 (GRCm39)	Y141N	probably benign	Het
Ces1a	A	G	8: 93,766,116 (GRCm39)	V166A	probably damaging	Het
Chrdl2	G	A	7: 99,671,259 (GRCm39)	A126T	probably benign	Het
Cyp2d26	T	C	15: 82,674,755 (GRCm39)	E409G	possibly damaging	Het
Dicer1	T	C	12: 104,678,456 (GRCm39)	I621V	probably damaging	Het
Enpp1	T	A	10: 24,536,181 (GRCm39)		probably null	Het
Epha2	T	A	4: 141,049,723 (GRCm39)	S776R	probably benign	Het
Fam107b	A	T	2: 3,779,481 (GRCm39)	E52V	probably damaging	Het
Fam169a	A	G	13: 97,228,381 (GRCm39)	N18S	probably benign	Het
Fbxw21	A	T	9: 108,968,597 (GRCm39)	F460I	probably benign	Het
Fgfr2	A	T	7: 129,800,247 (GRCm39)	I329N	probably damaging	Het
Fndc7	T	C	3: 108,783,848 (GRCm39)	S254G	probably benign	Het
Glis1	T	G	4: 107,489,478 (GRCm39)	H688Q	probably damaging	Het
Grip1	A	G	10: 119,890,937 (GRCm39)	E898G	probably damaging	Het
Gtf2a1l	T	A	17: 89,019,021 (GRCm39)	D368E	probably benign	Het
Gucy1a1	T	A	3: 82,013,322 (GRCm39)	H440L	probably damaging	Het
H2-M10.5	A	T	17: 37,084,377 (GRCm39)	D113V	probably benign	Het
Itpr2	A	C	6: 146,231,213 (GRCm39)	V1182G	probably damaging	Het
Itpr2	T	A	6: 146,231,256 (GRCm39)	T1135S	probably benign	Het
Kdm4c	T	C	4: 74,189,492 (GRCm39)	I69T	possibly damaging	Het
Klhl31	A	T	9: 77,558,345 (GRCm39)	K354*	probably null	Het
Krt222	T	A	11: 99,127,339 (GRCm39)	K159*	probably null	Het
Loxhd1	A	G	18: 77,529,369 (GRCm39)	E2004G	possibly damaging	Het
Man2a2	A	T	7: 80,008,800 (GRCm39)		probably null	Het
Med24	A	G	11: 98,595,962 (GRCm39)	F963L	possibly damaging	Het
Mphosph8	A	G	14: 56,930,943 (GRCm39)	E744G	probably damaging	Het
Mypn	A	G	10: 63,028,644 (GRCm39)	S140P	probably benign	Het
Npc1	A	G	18: 12,344,878 (GRCm39)	F331L	probably benign	Het
Obscn	C	A	11: 58,890,699 (GRCm39)	G1798W	probably damaging	Het
Or5d18	A	T	2: 87,864,589 (GRCm39)	V298D	probably damaging	Het
Patj	C	T	4: 98,353,341 (GRCm39)	P110L	probably damaging	Het
Pkhd1l1	T	G	15: 44,347,747 (GRCm39)		probably null	Het
Prdm5	A	G	6: 65,836,457 (GRCm39)	H256R	possibly damaging	Het
Ralgps1	A	G	2: 33,062,473 (GRCm39)	Y267H	probably damaging	Het
Rfpl4	T	G	7: 5,113,464 (GRCm39)	Y239S	probably damaging	Het
Rnpepl1	A	T	1: 92,846,953 (GRCm39)	M592L	probably benign	Het
Serpinc1	A	T	1: 160,821,012 (GRCm39)	H32L	probably damaging	Het
Skint5	T	A	4: 113,620,735 (GRCm39)	T660S	unknown	Het
Slc26a2	T	C	18: 61,331,658 (GRCm39)	N591S	probably damaging	Het
Slc9b2	C	T	3: 135,042,119 (GRCm39)	A466V	probably damaging	Het
Slco1a5	T	A	6: 142,180,492 (GRCm39)	T637S	probably benign	Het
Snx25	A	G	8: 46,533,338 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,259,594 (GRCm39)		probably benign	Het
Vmn1r183	A	G	7: 23,754,817 (GRCm39)	M207V	possibly damaging	Het
Wdcp	T	G	12: 4,900,691 (GRCm39)	Y182*	probably null	Het
Zc3h13	A	G	14: 75,531,416 (GRCm39)	T105A	possibly damaging	Het
Zfp933	T	C	4: 147,913,168 (GRCm39)	K30R	possibly damaging	Het

Other mutations in Hook2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02175:Hook2	APN	8	85,718,031 (GRCm39)	missense	probably damaging	1.00
IGL02350:Hook2	APN	8	85,721,614 (GRCm39)	nonsense	probably null
IGL02357:Hook2	APN	8	85,721,614 (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

2016-08-02