Mutagenetix > Incidental Mutation

Incidental Mutation 'R6810:Hook3'

543623

Institutional Source

Beutler Lab

Gene Symbol

Hook3

Ensembl Gene

ENSMUSG00000037234

Gene Name

hook microtubule tethering protein 3

Synonyms

E330005F07Rik, 5830454D03Rik

MMRRC Submission

044923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26021421-26119224 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to C at 26032422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

probably null
Transcript: ENSMUST00000211683

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

96% (53/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444G20Rik	C	T	10: 22,066,717	G455R	probably damaging	Het
Adgrg5	A	T	8: 94,933,942	T70S	probably damaging	Het
Adora1	T	C	1: 134,234,039	Y106C	probably damaging	Het
Aox3	T	A	1: 58,141,431	N250K	probably benign	Het
Ap2b1	A	T	11: 83,335,491	Y238F	possibly damaging	Het
Birc6	G	A	17: 74,612,220	S2015N	possibly damaging	Het
C7	A	G	15: 5,007,654	F581L	probably damaging	Het
Cd27	A	T	6: 125,233,664	H203Q	probably damaging	Het
Cdk2	A	G	10: 128,699,587	V274A	probably benign	Het
Cenpe	A	G	3: 135,243,822	T1351A	probably benign	Het
Chd7	T	C	4: 8,839,523	L1353P	probably damaging	Het
Dcc	C	T	18: 71,370,693	V945M	probably damaging	Het
Dio1	A	G	4: 107,297,725	V118A	probably damaging	Het
Dst	C	T	1: 34,212,298	T1818M	probably damaging	Het
Dthd1	T	A	5: 62,814,329	M165K	probably benign	Het
Eif5b	A	G	1: 38,046,660	I929V	probably benign	Het
F5	T	A	1: 164,186,902	S581T	probably damaging	Het
Fanca	A	C	8: 123,286,477	I761S	probably damaging	Het
Fat2	T	C	11: 55,282,241	T2549A	possibly damaging	Het
Fut2	A	G	7: 45,650,505	L281P	probably damaging	Het
Gm19410	C	A	8: 35,772,579	A143E	probably damaging	Het
Gm5431	T	C	11: 48,888,976	D651G	probably damaging	Het
Ivd	G	T	2: 118,869,761	V90L	probably benign	Het
Klhdc7b	A	G	15: 89,388,356	Y1147C	possibly damaging	Het
Mlh1	G	A	9: 111,241,558	T363M	possibly damaging	Het
Ndufa3	A	T	7: 3,619,477	I45F	probably damaging	Het
Nell2	T	C	15: 95,241,587	D588G	probably damaging	Het
Nhlrc3	T	C	3: 53,453,575	N253S	probably benign	Het
Nlrp4c	T	A	7: 6,066,755	F552I	probably damaging	Het
Olfr1052	G	A	2: 86,297,923	A36T	probably benign	Het
Olfr578	A	C	7: 102,984,835	S110A	probably damaging	Het
Pcdhga12	T	C	18: 37,767,179	S355P	probably benign	Het
Pcdhga7	A	T	18: 37,715,873	Y311F	probably benign	Het
Phldb2	A	G	16: 45,748,725		probably null	Het
Plscr4	G	A	9: 92,483,836	V120I	probably damaging	Het
Plxna4	A	G	6: 32,310,522	V480A	probably benign	Het
Psrc1	A	T	3: 108,385,348	K152N	possibly damaging	Het
Ptcd3	A	C	6: 71,885,532	V473G	probably damaging	Het
Rab11fip1	ACTCT	ACT	8: 27,152,732		probably null	Het
Skint6	T	C	4: 112,948,380		probably null	Het
Slc24a1	A	G	9: 64,948,323	V434A	probably benign	Het
Snd1	T	A	6: 28,668,610	V432E	probably benign	Het
Syne2	C	T	12: 75,942,885	T1847M	probably benign	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Tes	C	A	6: 17,104,652	N377K	probably benign	Het
Tfip11	T	A	5: 112,333,597	I452N	probably benign	Het
Tgfbi	T	C	13: 56,637,203	S658P	probably benign	Het
Tmx4	A	C	2: 134,620,674	D112E	probably damaging	Het
Tnn	G	T	1: 160,104,842	D1367E	probably damaging	Het
Triobp	A	G	15: 78,966,615	N323S	possibly damaging	Het
Usp40	T	C	1: 87,981,033	D582G	probably benign	Het
Vmn2r99	A	G	17: 19,380,034	K440R	probably benign	Het
Zfp707	T	A	15: 75,974,899	L193Q	probably damaging	Het
Zfp748	T	C	13: 67,541,725	Y472C	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTAGTCTGTCTTCAGCCG -3'
(R):5'- AAGGCAGTAGGTGATCTTTCTGC -3'

Sequencing Primer
(F):5'- CAGCCGCCTTTTTATGTAGAG -3'
(R):5'- CTGCTTTCATGGAGAGGTCGC -3'

Posted On

2019-04-04