Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01948:Hook3'

180982

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 #

IGL01948

Quality Score

Status

Chromosome

Chromosomal Location

26511449-26609252 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26549340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 168 (E168V)

Ref Sequence

ENSEMBL: ENSMUSP00000115008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037182] [ENSMUST00000147613]

AlphaFold

Q8BUK6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037182
AA Change: E487V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: E487V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147613
AA Change: E168V

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115008
Gene: ENSMUSG00000037234
AA Change: E168V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210389

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	C	5: 3,627,326 (GRCm39)	F101L	probably damaging	Het
Cacna1d	T	C	14: 29,846,751 (GRCm39)	T552A	probably damaging	Het
Ccdc81	T	C	7: 89,525,063 (GRCm39)	D506G	possibly damaging	Het
Fam186b	T	C	15: 99,178,327 (GRCm39)	H333R	probably benign	Het
Fam222b	T	C	11: 78,045,165 (GRCm39)	V242A	probably damaging	Het
Gabra2	A	G	5: 71,119,228 (GRCm39)	F425L	probably damaging	Het
Gm10717	A	T	9: 3,025,819 (GRCm39)	T135S	probably damaging	Het
Gm8104	A	T	14: 42,966,607 (GRCm39)	M120L	probably benign	Het
Gsdmc	T	C	15: 63,650,430 (GRCm39)	D308G	probably damaging	Het
Ighv5-17	T	A	12: 113,823,046 (GRCm39)	E25V	probably damaging	Het
Imp4	T	G	1: 34,483,356 (GRCm39)		probably benign	Het
Ms4a5	A	C	19: 11,256,717 (GRCm39)	M60R	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Prokr2	G	T	2: 132,215,603 (GRCm39)	A286E	probably damaging	Het
Ranbp9	T	A	13: 43,576,029 (GRCm39)	Q226L	probably damaging	Het
Scara3	A	G	14: 66,168,261 (GRCm39)	V452A	probably damaging	Het
Tmem38b	C	T	4: 53,850,530 (GRCm39)	P171S	probably damaging	Het
Zdhhc17	G	T	10: 110,782,137 (GRCm39)	T519K	possibly damaging	Het

Other mutations in Hook3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00695:Hook3	APN	8	26,549,278 (GRCm39)	missense	possibly damaging	0.46
IGL01066:Hook3	APN	8	26,538,326 (GRCm39)	missense	probably damaging	1.00
IGL01145:Hook3	APN	8	26,549,372 (GRCm39)	missense	probably benign	0.00
IGL01514:Hook3	APN	8	26,578,217 (GRCm39)	missense	possibly damaging	0.69
IGL01727:Hook3	APN	8	26,560,187 (GRCm39)	missense	probably benign	0.00
IGL01832:Hook3	APN	8	26,562,393 (GRCm39)	missense	possibly damaging	0.87
IGL01874:Hook3	APN	8	26,529,760 (GRCm39)	missense	possibly damaging	0.71
IGL01931:Hook3	APN	8	26,578,083 (GRCm39)	splice site	probably benign
IGL02209:Hook3	APN	8	26,560,293 (GRCm39)	missense	probably damaging	0.99
IGL02675:Hook3	APN	8	26,551,462 (GRCm39)	missense	possibly damaging	0.64
IGL02750:Hook3	APN	8	26,585,782 (GRCm39)	splice site	probably benign
Rufio	UTSW	8	26,524,968 (GRCm39)	nonsense	probably null
R0384:Hook3	UTSW	8	26,534,263 (GRCm39)	splice site	probably null
R0600:Hook3	UTSW	8	26,609,014 (GRCm39)	missense	probably benign
R1037:Hook3	UTSW	8	26,562,378 (GRCm39)	missense	possibly damaging	0.92
R1413:Hook3	UTSW	8	26,528,134 (GRCm39)	missense	probably damaging	0.98
R1563:Hook3	UTSW	8	26,600,780 (GRCm39)	missense	probably benign	0.06
R1767:Hook3	UTSW	8	26,561,084 (GRCm39)	critical splice donor site	probably null
R1806:Hook3	UTSW	8	26,558,687 (GRCm39)	missense	probably damaging	1.00
R2025:Hook3	UTSW	8	26,528,126 (GRCm39)	missense	probably damaging	0.96
R2026:Hook3	UTSW	8	26,528,126 (GRCm39)	missense	probably damaging	0.96
R2027:Hook3	UTSW	8	26,528,126 (GRCm39)	missense	probably damaging	0.96
R2091:Hook3	UTSW	8	26,549,422 (GRCm39)	splice site	probably benign
R2153:Hook3	UTSW	8	26,560,225 (GRCm39)	missense	probably damaging	1.00
R2184:Hook3	UTSW	8	26,609,011 (GRCm39)	missense	probably benign	0.00
R4586:Hook3	UTSW	8	26,522,039 (GRCm39)	missense	probably damaging	0.98
R4863:Hook3	UTSW	8	26,528,057 (GRCm39)	missense	probably damaging	1.00
R4971:Hook3	UTSW	8	26,572,607 (GRCm39)	missense	probably benign	0.22
R5023:Hook3	UTSW	8	26,522,047 (GRCm39)	frame shift	probably null
R5026:Hook3	UTSW	8	26,600,785 (GRCm39)	missense	probably damaging	0.98
R5068:Hook3	UTSW	8	26,585,785 (GRCm39)	critical splice donor site	probably null
R5253:Hook3	UTSW	8	26,562,319 (GRCm39)	missense	probably benign
R5383:Hook3	UTSW	8	26,609,017 (GRCm39)	missense	probably benign	0.01
R5437:Hook3	UTSW	8	26,551,450 (GRCm39)	missense	probably benign	0.05
R5528:Hook3	UTSW	8	26,562,321 (GRCm39)	missense	probably damaging	1.00
R5551:Hook3	UTSW	8	26,558,639 (GRCm39)	missense	possibly damaging	0.75
R5846:Hook3	UTSW	8	26,534,355 (GRCm39)	intron	probably benign
R5907:Hook3	UTSW	8	26,534,306 (GRCm39)	intron	probably benign
R6082:Hook3	UTSW	8	26,600,813 (GRCm39)	missense	probably benign	0.00
R6124:Hook3	UTSW	8	26,549,300 (GRCm39)	missense	probably benign	0.20
R6301:Hook3	UTSW	8	26,524,968 (GRCm39)	nonsense	probably null
R6314:Hook3	UTSW	8	26,578,136 (GRCm39)	missense	probably benign
R6448:Hook3	UTSW	8	26,583,692 (GRCm39)	missense	probably benign	0.02
R6810:Hook3	UTSW	8	26,522,450 (GRCm39)	splice site	probably null
R7168:Hook3	UTSW	8	26,561,114 (GRCm39)	missense	probably benign	0.02
R7856:Hook3	UTSW	8	26,525,249 (GRCm39)	missense	probably damaging	1.00
R7988:Hook3	UTSW	8	26,563,675 (GRCm39)	missense	probably benign	0.02
R8079:Hook3	UTSW	8	26,578,086 (GRCm39)	critical splice donor site	probably null
R9121:Hook3	UTSW	8	26,525,195 (GRCm39)	missense	probably damaging	1.00
R9223:Hook3	UTSW	8	26,522,552 (GRCm39)	missense
R9244:Hook3	UTSW	8	26,561,084 (GRCm39)	critical splice donor site	probably null
R9246:Hook3	UTSW	8	26,562,319 (GRCm39)	missense	probably benign

Posted On

2014-05-07