Mutagenetix > Incidental Mutation

Incidental Mutation 'R5846:Hook3'

453626

Institutional Source

Beutler Lab

Gene Symbol

Hook3

Ensembl Gene

ENSMUSG00000037234

Gene Name

hook microtubule tethering protein 3

Synonyms

E330005F07Rik, 5830454D03Rik

MMRRC Submission

044064-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5846 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

26021421-26119224 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 26044327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115008 (fasta)

Gene Model

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

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 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: ENSMUST00000152144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211777

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,732,033	S335P	unknown	Het
Ace3	A	T	11: 105,998,362	I473F	probably benign	Het
Adcy2	T	A	13: 68,738,588	N281Y	probably damaging	Het
Adgra1	T	A	7: 139,875,280	W275R	probably damaging	Het
Apmap	T	C	2: 150,608,421	D20G	probably damaging	Het
Arap2	T	C	5: 62,649,773	T1184A	probably damaging	Het
Atp13a2	T	C	4: 140,995,596	V303A	possibly damaging	Het
BC004004	A	T	17: 29,282,308		probably benign	Het
C1s1	G	A	6: 124,540,953	P23S	possibly damaging	Het
C1s2	T	A	6: 124,631,164	N197Y	probably damaging	Het
Camsap3	A	G	8: 3,603,980	H539R	probably damaging	Het
Catsperb	A	T	12: 101,602,766	N899I	probably damaging	Het
Cct4	T	C	11: 23,001,354		probably benign	Het
Chrm2	A	T	6: 36,523,450	T81S	probably damaging	Het
Dnaaf3	A	T	7: 4,523,687	S464T	possibly damaging	Het
Dnah10	T	A	5: 124,823,373	I3898N	possibly damaging	Het
Dnah3	TTCCTC	TTC	7: 119,951,021		probably benign	Het
Dnajc13	T	C	9: 104,190,385	K1187E	probably damaging	Het
Dock4	A	T	12: 40,817,736	D1437V	probably damaging	Het
Dst	C	T	1: 34,195,861	Q3674*	probably null	Het
Eef1a2	T	C	2: 181,152,983	Y141C	probably damaging	Het
Fads3	G	T	19: 10,053,033	Q178H	probably null	Het
Fbxw22	T	A	9: 109,386,761	M140L	probably benign	Het
Fndc7	A	G	3: 108,881,391	I178T	probably damaging	Het
Foxd1	T	C	13: 98,355,041	M141T	probably damaging	Het
Havcr2	T	C	11: 46,469,516	I141T	probably benign	Het
Hectd1	A	C	12: 51,773,835	N1190K	probably damaging	Het
Hist1h4b	T	C	13: 23,757,232	V71A	possibly damaging	Het
Hpgd	T	A	8: 56,307,667	I133N	possibly damaging	Het
Itih2	T	C	2: 10,097,903	R807G	probably benign	Het
Klhl35	G	A	7: 99,472,887	G65D	probably damaging	Het
Lrch4	C	G	5: 137,633,657	C48W	probably damaging	Het
Mafa	A	G	15: 75,747,778	S49P	probably benign	Het
Magi1	A	G	6: 93,685,603	V1170A	probably damaging	Het
Mprip	A	T	11: 59,758,554	K1028M	probably damaging	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Numb	G	T	12: 83,876,747		probably benign	Het
Obscn	A	G	11: 59,038,609	L6063P	probably damaging	Het
Olfr1371	A	G	11: 52,213,054	*312Q	probably null	Het
Olfr804	A	T	10: 129,704,887	N3I	probably damaging	Het
P3h3	A	T	6: 124,857,194		probably null	Het
Pi4k2a	A	G	19: 42,115,038	D329G	probably benign	Het
Ptch1	T	C	13: 63,565,454		probably benign	Het
Samd9l	A	G	6: 3,376,754	V169A	probably benign	Het
Sdk1	T	C	5: 142,114,393	Y1393H	probably damaging	Het
Slc18a3	T	A	14: 32,463,923	M168L	probably benign	Het
Smurf1	T	C	5: 144,879,380	T722A	probably damaging	Het
Ssr2	C	T	3: 88,581,072	P85L	probably damaging	Het
Syne2	G	T	12: 76,028,124	A4614S	probably benign	Het
Tgfbr3	C	A	5: 107,140,655	G380V	possibly damaging	Het
Tk1	G	T	11: 117,815,922		probably benign	Het
Tmem245	A	T	4: 56,903,241	S610T	probably benign	Het
Tmtc2	A	G	10: 105,271,441		probably benign	Het
Trim30b	A	G	7: 104,357,371	Y93H	possibly damaging	Het
Tsks	A	G	7: 44,943,988	D126G	probably damaging	Het
Ttn	T	A	2: 76,903,468		probably benign	Het
Usp15	A	G	10: 123,181,742	W50R	probably damaging	Het
Vmn2r55	A	T	7: 12,670,565	F304I	probably benign	Het
Xirp2	T	A	2: 67,509,243	D609E	probably damaging	Het
Zan	C	T	5: 137,394,376		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
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
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'- TTCAAGGACCACTTATGCCC -3'
(R):5'- CTGAATCCAGGAATATTTGGGTCTC -3'

Sequencing Primer
(F):5'- AGGACCACTTATGCCCTAGTC -3'
(R):5'- CTGCTCTTTTATCGAAGAGG -3'

Posted On

2017-02-10