Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02209:Hook3'

284627

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 #

IGL02209

Quality Score

Status

Chromosome

Chromosomal Location

26021421-26119224 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26070265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 311 (D311N)

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: D311N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: D311N

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: ENSMUST00000209996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210860

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 35,964,009	R82Q	probably damaging	Het
Acmsd	A	G	1: 127,759,755	Y258C	probably damaging	Het
Anapc5	A	G	5: 122,800,613	I366T	possibly damaging	Het
Crkl	C	T	16: 17,469,234	T218I	probably benign	Het
Egf	A	T	3: 129,707,307	I213K	possibly damaging	Het
Fry	A	G	5: 150,437,026	T33A	probably benign	Het
Garnl3	T	C	2: 33,085,930	D93G	probably damaging	Het
Iglv3	T	C	16: 19,241,670	T4A	probably benign	Het
Kctd17	A	G	15: 78,435,592	N70S	probably damaging	Het
Kmt2d	T	C	15: 98,854,567		probably benign	Het
Lrif1	A	C	3: 106,731,729	L18F	probably damaging	Het
Mfsd1	A	G	3: 67,598,132		probably benign	Het
Msh4	A	G	3: 153,888,862	Y101H	probably damaging	Het
Mycbpap	G	A	11: 94,509,882		probably benign	Het
Myt1	A	G	2: 181,797,234	D183G	probably benign	Het
Nppc	T	C	1: 86,669,665	*127W	probably null	Het
Olfr119	G	A	17: 37,700,992	M107I	probably damaging	Het
Olfr138	A	G	17: 38,275,232	I154V	probably benign	Het
Olfr356	C	T	2: 36,937,505	P129S	probably damaging	Het
Olfr641	T	G	7: 104,040,456	L220R	probably damaging	Het
Olfr918	T	C	9: 38,673,046	K146E	possibly damaging	Het
Pde5a	A	G	3: 122,825,015		probably benign	Het
Pkd1l3	T	C	8: 109,638,664	V1139A	probably damaging	Het
Pwwp2b	G	A	7: 139,255,105	R154Q	probably damaging	Het
Satb2	C	T	1: 56,871,518	V264I	probably damaging	Het
Slc6a2	T	A	8: 92,994,060	F435Y	probably benign	Het
Stmn2	T	C	3: 8,560,261		probably benign	Het
Synj1	A	G	16: 90,987,419	I277T	probably damaging	Het
Trio	C	T	15: 27,744,053	A2598T	probably damaging	Het
Tshz2	G	A	2: 169,884,764	V427M	probably damaging	Het
Utrn	A	G	10: 12,683,295	S1405P	probably damaging	Het
Vmn1r173	G	A	7: 23,703,161	V274I	probably benign	Het
Vmn2r116	T	C	17: 23,388,787	F443S	probably damaging	Het
Vps13d	C	A	4: 145,156,101	R974L	probably damaging	Het
Wapl	T	A	14: 34,677,261	S96T	possibly damaging	Het
Zfp516	A	G	18: 82,994,497	D1125G	probably benign	Het
Zfp692	C	T	11: 58,313,998	R395*	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
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
IGL01931:Hook3	APN	8	26088055	splice site	probably benign
IGL01948:Hook3	APN	8	26059312	missense	possibly damaging	0.95
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

2015-04-16