Mutagenetix > Incidental Mutation

Incidental Mutation 'R7168:Hook3'

558058

Institutional Source

Beutler Lab

Gene Symbol

Hook3

Ensembl Gene

ENSMUSG00000037234

Gene Name

hook microtubule tethering protein 3

Synonyms

E330005F07Rik, 5830454D03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26021421-26119224 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26071086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 298 (S298P)

Ref Sequence

ENSEMBL: ENSMUSP00000046788 (fasta)

Gene Model

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

AlphaFold

Q8BUK6

Predicted Effect

probably benign
Transcript: ENSMUST00000037182
AA Change: S298P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: S298P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,216,057	D1388V	probably damaging	Het
2810474O19Rik	T	G	6: 149,327,843	F796V	probably benign	Het
2900026A02Rik	C	A	5: 113,137,793	R65L	probably damaging	Het
Abcb10	A	T	8: 123,966,611	L318Q		Het
Abhd18	T	A	3: 40,934,936	V417D	probably damaging	Het
Actl7a	A	G	4: 56,743,769	K99E	probably benign	Het
Adam2	A	T	14: 66,058,792	I206N	possibly damaging	Het
Adgrv1	G	T	13: 81,397,209	S5652R	possibly damaging	Het
Aebp2	C	T	6: 140,633,700	T221M	probably damaging	Het
Ahi1	T	A	10: 21,017,932	M854K	probably benign	Het
Alpi	T	A	1: 87,099,433	T375S	possibly damaging	Het
Apip	T	A	2: 103,092,468	C210*	probably null	Het
Arid3b	A	T	9: 57,805,535	D232E	probably benign	Het
Asic5	G	A	3: 82,011,975	C342Y	probably damaging	Het
BC035947	T	C	1: 78,499,593	M101V	probably benign	Het
Brd3	G	A	2: 27,454,399	R440C	possibly damaging	Het
Deaf1	C	T	7: 141,324,596		probably benign	Het
Eif2ak3	A	G	6: 70,881,626	T300A	probably benign	Het
Eml6	T	A	11: 29,838,529	I519F	probably benign	Het
Fat4	T	C	3: 38,980,659	F2820S	probably damaging	Het
Fcho2	A	G	13: 98,789,463	I132T	probably benign	Het
Garnl3	A	G	2: 32,995,078	V810A	probably damaging	Het
Gm14403	A	C	2: 177,509,525	Q179P	probably damaging	Het
Gm3127	A	G	14: 4,172,501	M251V	probably benign	Het
Impact	T	A	18: 12,986,313		probably null	Het
Itgal	T	C	7: 127,330,213	F1101L	probably benign	Het
Itih1	C	T	14: 30,934,107	R579Q	probably null	Het
Kansl2	T	C	15: 98,529,544		probably null	Het
Kng1	A	G	16: 23,079,641	D597G	probably benign	Het
Kpna1	A	G	16: 36,015,962		probably benign	Het
Lama2	C	T	10: 27,366,152		probably null	Het
Ltbp1	G	T	17: 75,291,366	C614F	probably damaging	Het
Luc7l3	T	C	11: 94,299,984	E168G	unknown	Het
Lvrn	A	C	18: 46,881,322	K525T	probably benign	Het
Mdn1	G	A	4: 32,719,184	R2249H	probably damaging	Het
Mmp16	G	T	4: 18,110,550	G449C	probably damaging	Het
Mst1r	T	C	9: 107,908,193	V350A	probably benign	Het
Muc5b	A	G	7: 141,864,017	M3567V	probably benign	Het
Mybl1	A	T	1: 9,678,288	L361Q	probably damaging	Het
Myom1	T	A	17: 71,089,947	S1063R	probably benign	Het
Notch4	A	C	17: 34,572,693	H582P	probably benign	Het
Nwd2	T	A	5: 63,807,494	C1474S	probably benign	Het
Olfr1163	A	C	2: 88,070,577	N268K	probably benign	Het
Olfr1284	A	T	2: 111,379,879	D293V	probably damaging	Het
Olfr1338	A	T	4: 118,753,851	I231N	probably damaging	Het
Olfr889	G	T	9: 38,116,663	S294I	probably damaging	Het
Pcmt1	A	T	10: 7,638,182	V241D	probably damaging	Het
Plcl1	T	A	1: 55,697,463	N654K	probably damaging	Het
Plg	G	A	17: 12,388,559	G121D	probably damaging	Het
Ptch1	A	G	13: 63,512,060	S1260P	probably benign	Het
Pwp1	G	T	10: 85,884,537	R346I	probably damaging	Het
R3hdm1	C	T	1: 128,216,495	T800I	probably benign	Het
Rab3gap2	A	G	1: 185,204,297	D19G	possibly damaging	Het
Slc1a3	G	T	15: 8,645,902	N206K	possibly damaging	Het
Slc6a3	T	C	13: 73,571,472	V540A	probably benign	Het
Sntb1	G	A	15: 55,791,265	P265S	probably benign	Het
Timm29	T	C	9: 21,593,453	V139A	probably damaging	Het
Tktl2	A	G	8: 66,513,101	E437G	probably damaging	Het
Tm2d3	T	A	7: 65,693,926	V56E	probably benign	Het
Trhr2	T	A	8: 122,360,537	T55S	probably damaging	Het
Trim17	T	G	11: 58,968,578	V206G	probably benign	Het
Trpm1	A	G	7: 64,268,697	N1479S	probably benign	Het
Trpv2	T	A	11: 62,583,088	C190S	probably benign	Het
Umod	A	T	7: 119,478,326		probably benign	Het
Usp34	T	A	11: 23,464,585	Y2862N		Het
Vmn1r158	A	G	7: 22,790,676	V36A	possibly damaging	Het
Zfp420	A	G	7: 29,875,366	Y337C	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
R6810:Hook3	UTSW	8	26032422	splice site	probably null
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'- GAGTGACTGCCATGGGAATC -3'
(R):5'- ACATGCTCAGGAGGAATGGAATTTG -3'

Sequencing Primer
(F):5'- GCCATGGGAATCTAACATTTATTTG -3'
(R):5'- CTCAGGAGGAATGGAATTTGTTTTC -3'

Posted On

2019-06-26