Mutagenetix > Incidental Mutation

Incidental Mutation 'R1767:Hook3'

194476

Institutional Source

Beutler Lab

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 #

R1767 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26021421-26119224 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 26071056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046788 (fasta)

Gene Model

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

AlphaFold

Q8BUK6

Predicted Effect

probably null
Transcript: ENSMUST00000037182

SMART Domains

Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234

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: ENSMUST00000210860

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	T	C	4: 124,849,961	N128S	possibly damaging	Het
1700011H14Rik	G	A	14: 49,235,884	T128I	probably benign	Het
Adam26b	T	A	8: 43,519,911	I685F	probably benign	Het
Adgrf5	A	T	17: 43,450,564	Y1050F	possibly damaging	Het
Alcam	A	T	16: 52,270,714	N480K	probably damaging	Het
Alk	T	A	17: 71,900,698	H1014L	possibly damaging	Het
Arhgef2	A	G	3: 88,643,953	Q778R	probably damaging	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Ascc3	T	A	10: 50,718,376	I1189N	probably damaging	Het
AU040320	G	A	4: 126,840,724	G713D	probably damaging	Het
Bmpr1a	A	G	14: 34,447,770		probably null	Het
Bpifa6	A	G	2: 153,987,227	T225A	possibly damaging	Het
Cacna1g	T	C	11: 94,459,802	S406G	probably benign	Het
Ccdc40	T	A	11: 119,230,696		probably null	Het
Cckbr	A	T	7: 105,434,551	I229F	possibly damaging	Het
Cers3	A	G	7: 66,783,403	K156R	probably damaging	Het
Chd1	T	A	17: 15,770,303	W1706R	probably damaging	Het
Col11a2	T	A	17: 34,063,895		probably benign	Het
Coq10b	A	G	1: 55,061,354	R66G	probably damaging	Het
Cpn2	A	T	16: 30,259,667	Y405*	probably null	Het
Dis3	A	T	14: 99,084,142	Y590N	probably damaging	Het
Dpy19l1	T	C	9: 24,462,584	H270R	probably benign	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Ephx1	C	T	1: 180,994,677	G101S	probably damaging	Het
Flg	A	T	3: 93,279,913	Y224F	possibly damaging	Het
Focad	G	T	4: 88,357,468	V1105L	unknown	Het
Fzd1	A	G	5: 4,756,812	Y257H	probably benign	Het
Gm11116	T	C	5: 88,111,452		probably benign	Het
Gm11938	G	A	11: 99,603,245	S8F	unknown	Het
Gm9008	A	T	6: 76,497,605	N9K	unknown	Het
Grin3a	A	T	4: 49,844,423	V220E	probably damaging	Het
Gstt2	T	C	10: 75,834,264	D8G	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Itpr2	T	C	6: 146,350,068	D993G	possibly damaging	Het
Jhy	T	C	9: 40,961,148	R22G	probably benign	Het
Krt13	A	C	11: 100,121,100	H132Q	possibly damaging	Het
Krtap27-1	G	A	16: 88,671,311	S115L	probably damaging	Het
L1td1	T	C	4: 98,737,449	V627A	probably benign	Het
Lrrn4cl	A	G	19: 8,851,771	T38A	probably benign	Het
Ly96	A	G	1: 16,706,175	T112A	probably benign	Het
Meltf	G	T	16: 31,883,929	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,248,405	H1040Q	probably damaging	Het
Npas4	G	A	19: 4,988,183	P199L	probably benign	Het
Olfr1087	A	G	2: 86,690,384	M197T	probably benign	Het
Olfr530	T	C	7: 140,373,476	I45V	possibly damaging	Het
Olfr569	T	A	7: 102,887,626	I176F	probably damaging	Het
Pcdh10	A	T	3: 45,384,177	H923L	probably damaging	Het
Pias3	T	C	3: 96,701,403	S228P	probably damaging	Het
Pign	A	G	1: 105,653,192	V154A	probably benign	Het
Plod3	T	A	5: 136,990,176	V305E	possibly damaging	Het
Prkra	G	T	2: 76,647,240	H40Q	possibly damaging	Het
Prss22	T	A	17: 23,996,357	E148D	probably benign	Het
Psg17	A	G	7: 18,816,802	V376A	possibly damaging	Het
Retnlg	A	T	16: 48,873,628	D49V	possibly damaging	Het
Rtp1	A	G	16: 23,431,374	E163G	probably damaging	Het
Slc6a20a	T	A	9: 123,637,100	I522F	probably damaging	Het
Slco5a1	T	C	1: 12,989,615	D294G	probably damaging	Het
Slco6d1	A	G	1: 98,490,549	T487A	possibly damaging	Het
Smarcc2	A	T	10: 128,469,082	D262V	possibly damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Ssbp3	G	T	4: 107,047,415	D336Y	probably damaging	Het
Sun2	A	G	15: 79,725,557	S694P	probably benign	Het
Tdp1	G	A	12: 99,891,343		probably null	Het
Tfap2a	A	T	13: 40,725,137	I204N	probably damaging	Het
Tfip11	T	A	5: 112,334,432	W519R	probably damaging	Het
Tie1	T	C	4: 118,476,176	E831G	possibly damaging	Het
Tjp1	A	G	7: 65,312,553		probably null	Het
Tln2	C	T	9: 67,286,514	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,693,183	I78M	possibly damaging	Het
Trank1	T	C	9: 111,391,479	V2428A	probably benign	Het
Trim35	A	G	14: 66,304,168	E247G	probably damaging	Het
Tsc22d1	T	C	14: 76,418,102	S674P	probably damaging	Het
Tsn	A	T	1: 118,300,888	D201E	probably damaging	Het
Usp42	A	T	5: 143,714,866	V1134E	possibly damaging	Het
Uvrag	A	G	7: 99,099,394	I117T	probably damaging	Het
Vmn1r192	A	G	13: 22,187,271	S260P	probably benign	Het
Vmn2r110	C	T	17: 20,580,578	A531T	possibly damaging	Het
Wdsub1	A	T	2: 59,858,714	I388N	probably damaging	Het
Wnt10b	A	T	15: 98,772,675	L228Q	probably damaging	Het
Zbtb34	A	C	2: 33,411,336	S398A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- CTGCCAGCAAAGAAATGAAGTCAGTC -3'
(R):5'- TCCTGCTGTGAGAACTTTGTGCATC -3'

Sequencing Primer
(F):5'- GAAGTCAGTCTTTATGACACAGACC -3'
(R):5'- GCTTACAGAAGTGAGATACATGCTC -3'

Posted On

2014-05-23