Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01931:Hook3'

180449

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01931

Quality Score

Status

Chromosome

Chromosomal Location

26021421-26119224 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 26088055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037182]

AlphaFold

Q8BUK6

Predicted Effect

probably benign
Transcript: ENSMUST00000037182

SMART Domains

Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234

Domain	Start	End	E-Value	Type
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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	A	G	7: 125,318,697	E87G	unknown	Het
Ano2	A	G	6: 125,982,745	Y656C	probably damaging	Het
Cckbr	T	C	7: 105,426,103	S27P	probably benign	Het
Celsr1	T	A	15: 85,907,660	N2580I	probably damaging	Het
Cfap221	A	G	1: 119,932,895	L667P	probably damaging	Het
Col16a1	T	C	4: 130,072,841	C555R	possibly damaging	Het
Dync2h1	A	G	9: 7,114,973	V162A	probably damaging	Het
Dync2h1	G	A	9: 7,011,207	S3669L	probably benign	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm4922	A	G	10: 18,784,294	S227P	probably benign	Het
Grin2c	A	G	11: 115,253,910	F597L	probably damaging	Het
Ltv1	A	G	10: 13,185,501	I106T	probably damaging	Het
Mdc1	T	C	17: 35,848,231	V501A	probably benign	Het
Myo15	T	A	11: 60,496,138	C667S	probably damaging	Het
Myom3	T	C	4: 135,789,639	V840A	probably benign	Het
Naip1	G	T	13: 100,409,032	C1329*	probably null	Het
Oas1c	A	C	5: 120,805,495	I193S	probably benign	Het
Osbp2	C	T	11: 3,705,388		probably null	Het
Phf1	T	C	17: 26,935,535		probably benign	Het
Pisd	C	A	5: 32,739,132		probably null	Het
Ppox	T	C	1: 171,277,883	Q302R	probably null	Het
Sec24b	G	A	3: 130,009,799	P305S	probably benign	Het
Spink5	A	T	18: 44,015,638	I923F	probably benign	Het
Thsd7a	A	T	6: 12,504,099	V352E	probably damaging	Het
Tpi1	A	G	6: 124,812,640	V152A	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wdfy4	C	T	14: 33,155,753	G85S	probably damaging	Het
Wnk4	A	G	11: 101,268,484	T139A	possibly damaging	Het
Zfp345	T	C	2: 150,473,350	H89R	probably benign	Het

Other mutations in Hook3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01514:Hook3	APN	8	26088189	missense	possibly damaging	0.69
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
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
R7988:Hook3	UTSW	8	26073647	missense	probably benign	0.02
R8079:Hook3	UTSW	8	26088058	critical splice donor site	probably null
R9121:Hook3	UTSW	8	26035167	missense	probably damaging	1.00
R9223:Hook3	UTSW	8	26032524	missense
R9244:Hook3	UTSW	8	26071056	critical splice donor site	probably null
R9246:Hook3	UTSW	8	26072291	missense	probably benign

Posted On

2014-05-07