Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01066:Hook3'

51710

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01066

Quality Score

Status

Chromosome

Chromosomal Location

26021421-26119224 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 26048298 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 525 (E525A)

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: E525A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: E525A

Domain	Start	End	E-Value	Type
Pfam:HOOK	12	710	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147613

SMART Domains

Protein: ENSMUSP00000115008
Gene: ENSMUSG00000037234

Domain	Start	End	E-Value	Type
Pfam:HOOK	1	194	1.1e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152144

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2300003K06Rik	T	A	11: 99,837,628	R130*	probably null	Het
9030624J02Rik	T	A	7: 118,773,011		probably null	Het
Abca12	T	A	1: 71,353,730	R117W	possibly damaging	Het
Agrn	A	G	4: 156,177,343	S497P	probably benign	Het
Alpk1	A	T	3: 127,680,225	S710T	probably benign	Het
Anapc4	T	A	5: 52,857,209	N471K	probably benign	Het
Ano3	A	T	2: 110,661,445	M879K	probably null	Het
Apoe	A	G	7: 19,696,600	L239P	probably damaging	Het
Ash1l	T	C	3: 88,984,635	Y1274H	probably damaging	Het
B3glct	C	T	5: 149,709,425	T80I	possibly damaging	Het
Casc1	C	T	6: 145,176,222	G624S	probably damaging	Het
Ccdc146	T	C	5: 21,319,542	T271A	probably benign	Het
Chd8	T	A	14: 52,217,766	N1088I	probably damaging	Het
Csnk1g2	T	C	10: 80,634,647		probably benign	Het
Daxx	T	A	17: 33,913,893	V627D	probably benign	Het
Dpy19l3	A	G	7: 35,692,767		probably benign	Het
Enc1	A	G	13: 97,245,314	I111V	probably benign	Het
Ep400	A	G	5: 110,668,199		probably benign	Het
Fig4	T	C	10: 41,285,417		probably benign	Het
Fkbp7	A	T	2: 76,672,908	L36*	probably null	Het
Fxn	A	T	19: 24,267,298		probably benign	Het
Gm10152	C	T	7: 144,763,256	P16L	unknown	Het
Hivep2	T	C	10: 14,149,024	V2194A	possibly damaging	Het
Icam1	A	G	9: 21,016,105		probably null	Het
Ifngr1	C	T	10: 19,609,198	T315I	probably damaging	Het
Igsf10	A	G	3: 59,327,782		probably null	Het
Krt87	A	G	15: 101,438,385		probably null	Het
Lama1	T	A	17: 67,743,326	C311S	probably damaging	Het
Lig3	T	A	11: 82,797,315	M714K	possibly damaging	Het
Lrmp	T	C	6: 145,160,955	S222P	probably damaging	Het
Lypd5	C	T	7: 24,353,485	T189I	probably benign	Het
Mapk8ip3	C	T	17: 24,901,718	G807D	probably benign	Het
Met	T	C	6: 17,535,105		probably null	Het
Nlrp4g	C	A	9: 124,349,526		noncoding transcript	Het
Nlrp6	T	A	7: 140,921,796	V62D	possibly damaging	Het
Nme7	A	G	1: 164,345,430		probably null	Het
Olfr1034	A	G	2: 86,047,258	R259G	probably damaging	Het
Olfr1392	T	C	11: 49,293,630	I103T	possibly damaging	Het
Olfr507	T	C	7: 108,621,857	F15S	probably damaging	Het
Pcnx	G	A	12: 81,992,021	R2020Q	possibly damaging	Het
Pdzd2	T	A	15: 12,402,632		probably benign	Het
Pi4ka	A	G	16: 17,348,773		probably benign	Het
Pkdrej	T	G	15: 85,816,159	I1859L	probably benign	Het
Plcg1	A	T	2: 160,754,398	H638L	probably damaging	Het
Polr1b	C	T	2: 129,119,152	S677L	probably damaging	Het
Ppef2	A	G	5: 92,234,237	L533P	probably damaging	Het
Sh3rf1	T	A	8: 61,329,336	W171R	probably damaging	Het
Son	T	C	16: 91,660,136		probably benign	Het
Sycp1	A	G	3: 102,920,634	S266P	probably damaging	Het
Tedc1	A	G	12: 113,163,150	E344G	probably damaging	Het
Tkfc	T	C	19: 10,594,528	I381M	probably benign	Het
Tmprss6	T	C	15: 78,442,434	D1G	probably null	Het
Ttn	T	C	2: 76,752,426	T22708A	probably damaging	Het
Ubtf	T	C	11: 102,308,884		probably benign	Het
Vwc2l	T	C	1: 70,728,911	F45L	probably damaging	Het
Xpo7	T	C	14: 70,701,755	T154A	probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het

Other mutations in Hook3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00695:Hook3	APN	8	26059250	missense	possibly damaging	0.46
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
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
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

2013-06-21