Mutagenetix > Incidental Mutation

Incidental Mutation 'R5068:Hook3'

388449

Institutional Source

Beutler Lab

Gene Symbol

Hook3

Ensembl Gene

ENSMUSG00000037234

Gene Name

hook microtubule tethering protein 3

Synonyms

E330005F07Rik, 5830454D03Rik

MMRRC Submission

042658-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26511449-26609252 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 26585785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046788 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000153552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209542

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
6030468B19Rik	A	G	11: 117,693,701 (GRCm39)	Y56C	possibly damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Add2	T	A	6: 86,084,440 (GRCm39)	L496Q	probably damaging	Het
Akt1s1	T	C	7: 44,499,432 (GRCm39)		probably null	Het
Als2	G	T	1: 59,250,433 (GRCm39)	P437Q	probably benign	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd17	T	C	5: 90,402,667 (GRCm39)	R1464G	probably damaging	Het
Ankrd24	T	C	10: 81,475,699 (GRCm39)	S121P	possibly damaging	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Bnip3l	T	C	14: 67,237,081 (GRCm39)	E57G	possibly damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cc2d1b	T	C	4: 108,480,661 (GRCm39)	V27A	possibly damaging	Het
Cdc37	T	C	9: 21,061,099 (GRCm39)	T19A	probably damaging	Het
Cep152	T	C	2: 125,413,736 (GRCm39)	I1199V	probably benign	Het
Chd6	G	T	2: 160,808,289 (GRCm39)	L1642I	possibly damaging	Het
Chst13	T	C	6: 90,286,551 (GRCm39)	E137G	possibly damaging	Het
Cnrip1	A	G	11: 17,004,687 (GRCm39)	D79G	probably damaging	Het
Dars2	A	T	1: 160,869,483 (GRCm39)	C589S	probably benign	Het
Dhx15	T	G	5: 52,327,409 (GRCm39)	I102L	possibly damaging	Het
Dip2a	A	G	10: 76,153,877 (GRCm39)	L151P	possibly damaging	Het
Dlc1	T	C	8: 37,405,184 (GRCm39)	T202A	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dlgap4	T	C	2: 156,549,031 (GRCm39)	F464L	probably benign	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Dthd1	C	A	5: 62,976,059 (GRCm39)	D244E	probably benign	Het
Dtl	A	T	1: 191,300,485 (GRCm39)	D126E	probably damaging	Het
Ell2	A	G	13: 75,911,737 (GRCm39)	N341S	probably benign	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Erbb4	A	T	1: 68,083,061 (GRCm39)		probably null	Het
Erc2	A	T	14: 28,024,900 (GRCm39)	H593L	possibly damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Fyn	A	G	10: 39,402,839 (GRCm39)	K204E	probably damaging	Het
Gm4847	A	T	1: 166,465,953 (GRCm39)	F212Y	possibly damaging	Het
Gpc5	T	C	14: 115,654,676 (GRCm39)	*499R	probably null	Het
Hcn4	T	C	9: 58,767,304 (GRCm39)	L955P	unknown	Het
Hook2	C	A	8: 85,720,028 (GRCm39)	L111I	possibly damaging	Het
Hvcn1	T	C	5: 122,371,544 (GRCm39)	F28S	probably damaging	Het
Igkv6-32	A	G	6: 70,051,267 (GRCm39)	F30L	possibly damaging	Het
Inpp5b	G	A	4: 124,636,442 (GRCm39)		probably null	Het
Itgb2	G	A	10: 77,384,595 (GRCm39)	A239T	probably damaging	Het
Kcnrg	T	C	14: 61,845,266 (GRCm39)	L102P	probably damaging	Het
Kif16b	A	T	2: 142,553,627 (GRCm39)	M1068K	probably benign	Het
Kifc3	T	C	8: 95,836,844 (GRCm39)	R109G	possibly damaging	Het
Klhl28	A	T	12: 65,004,486 (GRCm39)	M9K	probably benign	Het
Kptn	T	C	7: 15,857,027 (GRCm39)	Y172H	probably damaging	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Mrc1	T	A	2: 14,311,327 (GRCm39)	M868K	probably benign	Het
Mterf1a	T	C	5: 3,941,854 (GRCm39)	N5D	probably benign	Het
Muc5b	T	C	7: 141,412,345 (GRCm39)	S1764P	unknown	Het
Myo9b	T	C	8: 71,801,699 (GRCm39)	Y1275H	probably damaging	Het
Nek1	T	C	8: 61,469,330 (GRCm39)	I129T	probably damaging	Het
Net1	G	A	13: 3,936,740 (GRCm39)	A221V	probably benign	Het
Nuak2	A	T	1: 132,259,509 (GRCm39)	D429V	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or52h1	T	A	7: 103,829,448 (GRCm39)	S56C	probably damaging	Het
Or8b42	T	C	9: 38,341,760 (GRCm39)	Y61H	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh7	T	C	5: 57,879,508 (GRCm39)	V1021A	probably damaging	Het
Pclo	G	C	5: 14,729,087 (GRCm39)		probably benign	Het
Pds5a	A	C	5: 65,772,615 (GRCm39)	D1329E	probably damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pias3	A	G	3: 96,611,171 (GRCm39)	K431E	probably damaging	Het
Piwil1	T	C	5: 128,818,678 (GRCm39)	S158P	probably damaging	Het
Plxnc1	A	T	10: 94,635,239 (GRCm39)	I1329N	possibly damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pnpla1	T	A	17: 29,098,397 (GRCm39)		probably null	Het
Prdm10	T	C	9: 31,270,343 (GRCm39)	Y827H	probably damaging	Het
Prss3b	A	C	6: 41,009,370 (GRCm39)	Y155D	probably benign	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rgl3	A	G	9: 21,899,340 (GRCm39)		probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rpp40	T	C	13: 36,082,681 (GRCm39)	N254D	probably benign	Het
Scin	T	A	12: 40,174,699 (GRCm39)	H128L	probably damaging	Het
Sh3bp2	A	T	5: 34,714,311 (GRCm39)	M225L	probably benign	Het
Shisa9	C	A	16: 12,085,412 (GRCm39)	H324Q	possibly damaging	Het
Sipa1l1	A	G	12: 82,484,601 (GRCm39)	D1585G	probably damaging	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slc6a13	T	C	6: 121,310,301 (GRCm39)	L320P	probably damaging	Het
Spats2l	A	G	1: 57,982,380 (GRCm39)	T421A	probably benign	Het
Spryd3	A	T	15: 102,037,046 (GRCm39)	D207E	probably benign	Het
Srrt	T	C	5: 137,294,803 (GRCm39)	N392S	possibly damaging	Het
Stk36	G	T	1: 74,661,504 (GRCm39)	R510S	probably benign	Het
Sucnr1	A	G	3: 59,994,288 (GRCm39)	Y272C	probably damaging	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tmem131	A	G	1: 36,893,986 (GRCm39)	I139T	probably damaging	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,655,750 (GRCm39)	I661T	probably benign	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Uap1	G	T	1: 169,989,032 (GRCm39)	P130Q	probably damaging	Het
Ube3c	T	C	5: 29,806,352 (GRCm39)		probably null	Het
Umad1	A	T	6: 8,401,157 (GRCm39)		probably null	Het
Usp34	T	C	11: 23,410,665 (GRCm39)	V2705A	possibly damaging	Het
Vps13a	T	C	19: 16,723,422 (GRCm39)	S259G	probably benign	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wdfy3	T	C	5: 102,042,803 (GRCm39)	T1983A	probably benign	Het
Wdr24	T	G	17: 26,044,753 (GRCm39)	F203V	possibly damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het
Zfp282	A	C	6: 47,854,637 (GRCm39)	Q11P	probably benign	Het
Zfp750	T	A	11: 121,403,021 (GRCm39)	T576S	probably benign	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
IGL01948:Hook3	APN	8	26,549,340 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- GGACACATGTTCCCTGATTCC -3'
(R):5'- TGGCACACATGTTTGTATGGATC -3'

Sequencing Primer
(F):5'- CGCTGGGCTTTACTGACTTAACAG -3'
(R):5'- TCACTTAAACGATGGCACTGG -3'

Posted On

2016-06-06