Mutagenetix > Incidental Mutation

Incidental Mutation 'R9288:Hook1'

704074

Institutional Source

Beutler Lab

Gene Symbol

Hook1

Ensembl Gene

ENSMUSG00000028572

Gene Name

hook microtubule tethering protein 1

Synonyms

abnormal spermatozoon head shape, azh, A930033L17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9288 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95855477-95913650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95901505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 488 (R488C)

Ref Sequence

ENSEMBL: ENSMUSP00000030306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030306]

AlphaFold

Q8BIL5

PDB Structure

The solution structure of RSGI RUH-026, conserved domain of HOOK1 protein from mouse [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030306
AA Change: R488C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030306
Gene: ENSMUSG00000028572
AA Change: R488C

Domain	Start	End	E-Value	Type
Pfam:HOOK	14	720	N/A	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice have abnormal ladle shaped sperm with up to 40% lacking a flagella. Nonetheless, most males breed, although litter size is reduced. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,704,444 (GRCm39)	D66G	probably benign	Het
Acot7	T	A	4: 152,291,263 (GRCm39)	H76Q	probably damaging	Het
Acsf2	C	T	11: 94,464,044 (GRCm39)	V47M	probably benign	Het
Agmat	T	C	4: 141,474,391 (GRCm39)	S91P	probably damaging	Het
Apba1	A	G	19: 23,923,145 (GRCm39)	*843W	probably null	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Asz1	A	G	6: 18,051,368 (GRCm39)	I437T	possibly damaging	Het
Bbs12	C	T	3: 37,374,712 (GRCm39)	L387F	probably damaging	Het
BC028528	T	C	3: 95,799,227 (GRCm39)	I6V	probably benign	Het
C6	A	C	15: 4,835,532 (GRCm39)	K770T		Het
Cacna1g	T	A	11: 94,308,897 (GRCm39)	K1669*	probably null	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cit	C	T	5: 116,123,512 (GRCm39)	T1436I	probably damaging	Het
Col14a1	T	A	15: 55,286,918 (GRCm39)	V913E	unknown	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Eml6	T	G	11: 29,788,641 (GRCm39)		probably null	Het
Epb41l2	A	G	10: 25,355,653 (GRCm39)	T486A	possibly damaging	Het
Fbln5	A	T	12: 101,734,728 (GRCm39)	C181*	probably null	Het
Flnb	A	C	14: 7,904,498 (GRCm38)	D967A	probably benign	Het
Glyatl3	A	G	17: 41,221,016 (GRCm39)	V117A	probably benign	Het
Gm4553	GCAGCCCCCACAGGAACTACAACCACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGA	GCAGCCCCCACAGGA	7: 141,719,025 (GRCm39)		probably benign	Het
Gpa33	G	A	1: 165,980,304 (GRCm39)	M122I	probably benign	Het
Gtf2ird2	A	G	5: 134,221,571 (GRCm39)	E58G	possibly damaging	Het
Hdlbp	T	C	1: 93,336,773 (GRCm39)	E1125G	probably benign	Het
Isx	G	T	8: 75,619,439 (GRCm39)	A197S	probably benign	Het
Klhl10	G	T	11: 100,347,719 (GRCm39)	A592S	probably benign	Het
Kmt2c	A	T	5: 25,497,907 (GRCm39)	D3949E	probably damaging	Het
Kmt2c	A	T	5: 25,554,860 (GRCm39)	I1258K	probably benign	Het
Lpin3	C	A	2: 160,745,552 (GRCm39)	N618K	probably damaging	Het
Lrrc9	T	A	12: 72,522,858 (GRCm39)	D701E	probably benign	Het
Mex3a	T	A	3: 88,443,458 (GRCm39)	M178K	possibly damaging	Het
Mex3b	T	C	7: 82,518,159 (GRCm39)	V158A	probably benign	Het
Myh7	A	T	14: 55,222,932 (GRCm39)	F758I	probably benign	Het
Neb	T	G	2: 52,051,403 (GRCm39)	N6626H	probably damaging	Het
Nkd2	G	T	13: 73,995,177 (GRCm39)		probably benign	Het
Nsmaf	T	C	4: 6,414,976 (GRCm39)	K630R	probably benign	Het
Obscn	A	T	11: 58,976,049 (GRCm39)	F2026Y	probably benign	Het
Olr1	T	C	6: 129,470,202 (GRCm39)		probably benign	Het
Osbpl1a	A	G	18: 12,904,402 (GRCm39)	L589P	probably damaging	Het
Pcsk5	T	C	19: 17,814,345 (GRCm39)	K58E	probably benign	Het
Poll	T	C	19: 45,547,281 (GRCm39)	I64V	probably benign	Het
Prdm10	A	G	9: 31,252,674 (GRCm39)	E469G	possibly damaging	Het
Ptprb	T	A	10: 116,155,353 (GRCm39)	N415K	probably benign	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rft1	A	T	14: 30,383,415 (GRCm39)	K152*	probably null	Het
Rnf180	CGAGG	CGAGGAGG	13: 105,386,781 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Sfpq	T	C	4: 126,916,627 (GRCm39)	S275P	probably damaging	Het
Slit1	A	T	19: 41,613,144 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,952,927 (GRCm39)	F705L	probably damaging	Het
Spata17	A	G	1: 186,844,756 (GRCm39)	V281A	possibly damaging	Het
Sulf1	G	A	1: 12,856,827 (GRCm39)	R26Q	probably benign	Het
Tbc1d4	T	C	14: 101,692,308 (GRCm39)	Y1052C	probably damaging	Het
Tgfbr2	T	C	9: 115,939,149 (GRCm39)	D251G	probably benign	Het
Tmem88b	A	T	4: 155,868,733 (GRCm39)	W172R	probably damaging	Het
Vdac2	C	A	14: 21,881,962 (GRCm39)	P7T	probably benign	Het
Vmn2r112	A	G	17: 22,822,323 (GRCm39)	K334E	probably damaging	Het
Vmn2r8	A	T	5: 108,950,185 (GRCm39)	S221T	probably benign	Het
Zfp608	G	T	18: 55,033,341 (GRCm39)	N397K	probably benign	Het

Other mutations in Hook1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02019:Hook1	APN	4	95,910,434 (GRCm39)	missense	probably benign	0.25
IGL02229:Hook1	APN	4	95,889,488 (GRCm39)	missense	possibly damaging	0.93
IGL03338:Hook1	APN	4	95,886,929 (GRCm39)	splice site	probably benign
grin	UTSW	4	95,901,549 (GRCm39)	frame shift	probably null
toothy	UTSW	4	95,903,042 (GRCm39)	splice site	probably null
PIT4453001:Hook1	UTSW	4	95,903,089 (GRCm39)	missense	probably damaging	0.99
R0558:Hook1	UTSW	4	95,881,449 (GRCm39)	splice site	probably benign
R0593:Hook1	UTSW	4	95,887,023 (GRCm39)	missense	possibly damaging	0.93
R0699:Hook1	UTSW	4	95,884,077 (GRCm39)	splice site	probably benign
R1004:Hook1	UTSW	4	95,910,524 (GRCm39)	missense	probably benign	0.00
R1465:Hook1	UTSW	4	95,901,493 (GRCm39)	missense	probably benign	0.00
R1465:Hook1	UTSW	4	95,901,493 (GRCm39)	missense	probably benign	0.00
R2140:Hook1	UTSW	4	95,901,549 (GRCm39)	frame shift	probably null
R2278:Hook1	UTSW	4	95,886,957 (GRCm39)	missense	probably benign	0.00
R3784:Hook1	UTSW	4	95,877,888 (GRCm39)	missense	probably damaging	1.00
R4500:Hook1	UTSW	4	95,881,437 (GRCm39)	critical splice donor site	probably null
R4798:Hook1	UTSW	4	95,890,794 (GRCm39)	missense	possibly damaging	0.84
R5200:Hook1	UTSW	4	95,881,367 (GRCm39)	missense	probably damaging	1.00
R5546:Hook1	UTSW	4	95,890,765 (GRCm39)	missense	probably benign	0.03
R6532:Hook1	UTSW	4	95,907,993 (GRCm39)	splice site	probably null
R6629:Hook1	UTSW	4	95,889,507 (GRCm39)	missense	probably benign	0.03
R7010:Hook1	UTSW	4	95,903,048 (GRCm39)	missense	probably damaging	0.99
R7534:Hook1	UTSW	4	95,905,834 (GRCm39)	missense	probably benign	0.27
R8236:Hook1	UTSW	4	95,903,042 (GRCm39)	splice site	probably null
R8826:Hook1	UTSW	4	95,880,432 (GRCm39)	missense	probably benign	0.00
R8985:Hook1	UTSW	4	95,910,468 (GRCm39)	missense	probably benign	0.00
R9445:Hook1	UTSW	4	95,903,049 (GRCm39)	missense	probably benign	0.00
R9445:Hook1	UTSW	4	95,901,499 (GRCm39)	missense	probably benign	0.12
R9463:Hook1	UTSW	4	95,910,510 (GRCm39)	missense	probably damaging	1.00
R9481:Hook1	UTSW	4	95,901,505 (GRCm39)	missense	probably damaging	1.00
R9548:Hook1	UTSW	4	95,891,808 (GRCm39)	missense	probably damaging	0.99
R9628:Hook1	UTSW	4	95,901,560 (GRCm39)	missense	probably damaging	1.00
R9718:Hook1	UTSW	4	95,904,678 (GRCm39)	missense	probably benign	0.01
X0027:Hook1	UTSW	4	95,884,048 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACAAGCTGCTTTACATGGATACC -3'
(R):5'- GGTGCGAAACATCTGCTTGC -3'

Sequencing Primer
(F):5'- GGATACCTTGTAACATGTGTGCAC -3'
(R):5'- GCCTATTTATTCAGACCACAGCACTG -3'

Posted On

2022-03-25