Mutagenetix > Incidental Mutation

Incidental Mutation 'R5942:Hook2'

460350

Institutional Source

Beutler Lab

Gene Symbol

Hook2

Ensembl Gene

ENSMUSG00000052566

Gene Name

hook microtubule tethering protein 2

Synonyms

A630054I03Rik

MMRRC Submission

044134-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R5942 (G1)

Quality Score

164

Status

Not validated

Chromosome

Chromosomal Location

85717232-85729978 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 85721409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064495] [ENSMUST00000064495] [ENSMUST00000209764] [ENSMUST00000209764] [ENSMUST00000209764] [ENSMUST00000209764] [ENSMUST00000210326] [ENSMUST00000210326] [ENSMUST00000210326] [ENSMUST00000210326]

AlphaFold

Q7TMK6

Predicted Effect

probably null
Transcript: ENSMUST00000064495

SMART Domains

Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566

Domain	Start	End	E-Value	Type
Pfam:HOOK	8	703	2.3e-277	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000064495

SMART Domains

Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566

Domain	Start	End	E-Value	Type
Pfam:HOOK	8	703	2.3e-277	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209652

Predicted Effect

probably null
Transcript: ENSMUST00000209764

Predicted Effect

probably null
Transcript: ENSMUST00000209764

Predicted Effect

probably null
Transcript: ENSMUST00000209764

Predicted Effect

probably null
Transcript: ENSMUST00000209764

Predicted Effect

probably null
Transcript: ENSMUST00000210326

Predicted Effect

probably null
Transcript: ENSMUST00000210326

Predicted Effect

probably null
Transcript: ENSMUST00000210326

Predicted Effect

probably null
Transcript: ENSMUST00000210326

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 96.7%
20x: 89.5%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	T	17: 46,623,333 (GRCm39)	V860M	probably benign	Het
Accs	A	T	2: 93,666,392 (GRCm39)	L432M	probably damaging	Het
Actrt3	T	A	3: 30,652,813 (GRCm39)	N94Y	possibly damaging	Het
Adamts18	T	C	8: 114,504,380 (GRCm39)	Q80R	probably benign	Het
Ccr8	G	T	9: 119,923,772 (GRCm39)	V296F	probably damaging	Het
Cep170	T	A	1: 176,583,985 (GRCm39)	E798V	probably damaging	Het
Cttnbp2	T	A	6: 18,448,439 (GRCm39)	E73D	probably damaging	Het
Cyp2a4	A	T	7: 26,010,129 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,117,466 (GRCm39)	Y41*	probably null	Het
Enc1	G	A	13: 97,382,887 (GRCm39)	D466N	probably benign	Het
Enpp1	C	A	10: 24,551,966 (GRCm39)	E138*	probably null	Het
Entrep1	A	G	19: 23,963,834 (GRCm39)	V245A	probably damaging	Het
Ezh2	T	C	6: 47,554,516 (GRCm39)	R27G	possibly damaging	Het
Fut10	A	G	8: 31,691,485 (GRCm39)	N110S	possibly damaging	Het
Glt1d1	A	T	5: 127,721,534 (GRCm39)		probably null	Het
Gm14393	G	A	2: 174,903,689 (GRCm39)	Q73*	probably null	Het
Gpr156	C	T	16: 37,825,264 (GRCm39)	P494S	probably benign	Het
Has2	T	A	15: 56,531,192 (GRCm39)	K508*	probably null	Het
Hc	A	T	2: 34,918,137 (GRCm39)	C715*	probably null	Het
Klhdc7b	A	C	15: 89,271,634 (GRCm39)	I839L	probably benign	Het
Kndc1	T	C	7: 139,516,792 (GRCm39)	L1584P	probably damaging	Het
Lamp1	T	C	8: 13,223,941 (GRCm39)	F358L	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mga	A	G	2: 119,777,440 (GRCm39)	I1871V	probably benign	Het
Mgmt	T	A	7: 136,723,219 (GRCm39)	D96E	probably benign	Het
Morc2a	C	A	11: 3,629,936 (GRCm39)	T424K	probably damaging	Het
Myo1g	A	G	11: 6,464,888 (GRCm39)	L462P	probably damaging	Het
Ncaph	C	A	2: 126,958,608 (GRCm39)		probably null	Het
Nlrc3	A	T	16: 3,767,293 (GRCm39)	D969E	probably damaging	Het
Nt5c3	A	T	6: 56,874,839 (GRCm39)		probably null	Het
Or4c12b	G	T	2: 89,646,684 (GRCm39)	E5*	probably null	Het
Or5ac15	A	T	16: 58,940,039 (GRCm39)	Y131*	probably null	Het
Or5d41	A	C	2: 88,054,916 (GRCm39)	I153M	probably benign	Het
Or8h8	T	C	2: 86,753,750 (GRCm39)	N42S	probably damaging	Het
Parp14	C	A	16: 35,659,737 (GRCm39)	M1628I	probably damaging	Het
Parp8	G	T	13: 117,005,969 (GRCm39)	P693Q	probably benign	Het
Parp9	A	G	16: 35,792,259 (GRCm39)	D485G	possibly damaging	Het
Pcdha1	T	A	18: 37,063,444 (GRCm39)	V36D	probably damaging	Het
Pcdhb5	C	T	18: 37,453,838 (GRCm39)	Q73*	probably null	Het
Pecam1	G	T	11: 106,552,809 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,660,277 (GRCm39)	I527V	probably benign	Het
Phf11	G	A	14: 59,497,593 (GRCm39)	P13S	probably benign	Het
Ppp4r4	T	A	12: 103,553,706 (GRCm39)	V388D	possibly damaging	Het
Psmc4	C	T	7: 27,746,480 (GRCm39)	V202I	probably damaging	Het
Ptx3	T	G	3: 66,127,484 (GRCm39)	M1R	probably null	Het
Rimbp3	A	G	16: 17,029,752 (GRCm39)	T1059A	probably benign	Het
Rmdn3	G	A	2: 118,978,058 (GRCm39)	A181V	probably damaging	Het
Rnase10	A	T	14: 51,246,735 (GRCm39)	M38L	probably benign	Het
Sec16b	T	A	1: 157,358,920 (GRCm39)	Y118N	probably damaging	Het
Sigmar1	T	C	4: 41,741,159 (GRCm39)	T32A	probably benign	Het
Srcap	A	G	7: 127,137,180 (GRCm39)	D954G	probably damaging	Het
Tfrc	A	G	16: 32,445,533 (GRCm39)	N618S	possibly damaging	Het
Tnrc6a	A	G	7: 122,785,888 (GRCm39)	D1028G	probably damaging	Het
Tns3	A	T	11: 8,385,860 (GRCm39)	D1379E	probably damaging	Het
Ttn	A	T	2: 76,580,505 (GRCm39)	C23463S	possibly damaging	Het
Ufl1	T	C	4: 25,250,619 (GRCm39)	T745A	probably benign	Het
Vmn1r231	T	A	17: 21,110,417 (GRCm39)	Y166F	possibly damaging	Het
Wbp1l	C	A	19: 46,642,869 (GRCm39)	T290K	probably damaging	Het
Wdr25	A	G	12: 108,864,392 (GRCm39)	N179S	probably benign	Het
Wdr62	G	A	7: 29,942,504 (GRCm39)	Q1035*	probably null	Het
Yif1a	C	T	19: 5,141,669 (GRCm39)	R196C	probably damaging	Het
Zfp352	A	T	4: 90,113,307 (GRCm39)	K482N	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Hook2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Hook2	APN	8	85,729,126 (GRCm39)	unclassified	probably benign
IGL01161:Hook2	APN	8	85,721,560 (GRCm39)	missense	probably benign	0.05
IGL01535:Hook2	APN	8	85,729,618 (GRCm39)	missense	probably benign	0.00
IGL01668:Hook2	APN	8	85,720,207 (GRCm39)	missense	possibly damaging	0.88
IGL01749:Hook2	APN	8	85,719,865 (GRCm39)	critical splice donor site	probably null
IGL01750:Hook2	APN	8	85,719,865 (GRCm39)	critical splice donor site	probably null
IGL01753:Hook2	APN	8	85,719,865 (GRCm39)	critical splice donor site	probably null
IGL01900:Hook2	APN	8	85,727,940 (GRCm39)	unclassified	probably benign
IGL02157:Hook2	APN	8	85,727,779 (GRCm39)	unclassified	probably benign
IGL02175:Hook2	APN	8	85,718,031 (GRCm39)	missense	probably damaging	1.00
IGL02350:Hook2	APN	8	85,721,614 (GRCm39)	nonsense	probably null
IGL02357:Hook2	APN	8	85,721,614 (GRCm39)	nonsense	probably null
IGL03377:Hook2	APN	8	85,727,964 (GRCm39)	nonsense	probably null
R0399:Hook2	UTSW	8	85,720,196 (GRCm39)	splice site	probably benign
R1133:Hook2	UTSW	8	85,722,433 (GRCm39)	missense	probably damaging	1.00
R2087:Hook2	UTSW	8	85,729,320 (GRCm39)	missense	probably damaging	0.98
R2277:Hook2	UTSW	8	85,729,560 (GRCm39)	nonsense	probably null
R2398:Hook2	UTSW	8	85,717,928 (GRCm39)	missense	probably damaging	0.98
R3406:Hook2	UTSW	8	85,720,613 (GRCm39)	splice site	probably benign
R4752:Hook2	UTSW	8	85,729,349 (GRCm39)	nonsense	probably null
R5014:Hook2	UTSW	8	85,718,006 (GRCm39)	missense	probably damaging	1.00
R5068:Hook2	UTSW	8	85,720,028 (GRCm39)	missense	possibly damaging	0.81
R5195:Hook2	UTSW	8	85,721,405 (GRCm39)	missense	probably damaging	1.00
R5360:Hook2	UTSW	8	85,728,033 (GRCm39)	missense	probably damaging	1.00
R5597:Hook2	UTSW	8	85,720,657 (GRCm39)	missense	probably benign	0.00
R5614:Hook2	UTSW	8	85,729,137 (GRCm39)	missense	probably damaging	1.00
R5843:Hook2	UTSW	8	85,717,912 (GRCm39)	missense	probably damaging	0.99
R5931:Hook2	UTSW	8	85,722,375 (GRCm39)	nonsense	probably null
R6120:Hook2	UTSW	8	85,724,754 (GRCm39)	missense	probably damaging	1.00
R6167:Hook2	UTSW	8	85,721,642 (GRCm39)	missense	probably damaging	1.00
R6936:Hook2	UTSW	8	85,729,627 (GRCm39)	missense	probably benign	0.04
R6992:Hook2	UTSW	8	85,729,185 (GRCm39)	missense	probably damaging	1.00
R7058:Hook2	UTSW	8	85,724,040 (GRCm39)	missense	possibly damaging	0.89
R7101:Hook2	UTSW	8	85,723,680 (GRCm39)	missense	probably benign
R7177:Hook2	UTSW	8	85,718,046 (GRCm39)	missense	probably benign	0.07
R8072:Hook2	UTSW	8	85,721,120 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCTTGCGTAAATCCTATCTGTG -3'
(R):5'- GTTCCGTTGTTGCAGCTCAG -3'

Sequencing Primer
(F):5'- GCGTAAATCCTATCTGTGTAAGACC -3'
(R):5'- TTGTTGCAGCTCAGCGACC -3'

Posted On

2017-02-28