Mutagenetix > Incidental Mutation

Incidental Mutation 'R0558:Hook1'

45704

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

038750-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0558 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95855477-95913650 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 95881449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030306] [ENSMUST00000107083]

AlphaFold

Q8BIL5

Predicted Effect

probably benign
Transcript: ENSMUST00000030306

SMART Domains

Protein: ENSMUSP00000030306
Gene: ENSMUSG00000028572

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107083

SMART Domains

Protein: ENSMUSP00000102698
Gene: ENSMUSG00000028572

Domain	Start	End	E-Value	Type
Pfam:HOOK	7	219	2e-107	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141448

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (80/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,789,163 (GRCm39)	G273R	probably benign	Het
Adamts10	T	C	17: 33,769,583 (GRCm39)	V935A	probably benign	Het
Anapc15-ps	T	C	10: 95,508,983 (GRCm39)	D90G	probably damaging	Het
Atic	T	A	1: 71,602,947 (GRCm39)	V107E	probably benign	Het
Atp4b	T	C	8: 13,443,523 (GRCm39)	T52A	possibly damaging	Het
Cacna1h	C	T	17: 25,600,524 (GRCm39)	A1606T	probably damaging	Het
Cacng6	T	A	7: 3,483,324 (GRCm39)	Y217*	probably null	Het
Cc2d2a	T	G	5: 43,881,729 (GRCm39)		probably benign	Het
Cd226	T	A	18: 89,225,338 (GRCm39)	H78Q	probably benign	Het
Cers3	A	G	7: 66,433,166 (GRCm39)	D161G	probably damaging	Het
Ces1f	T	C	8: 94,002,017 (GRCm39)	H37R	probably benign	Het
Cfhr4	A	G	1: 139,667,230 (GRCm39)	V376A	probably damaging	Het
Chek1	T	A	9: 36,623,411 (GRCm39)	N421I	possibly damaging	Het
Cibar1	T	C	4: 12,164,095 (GRCm39)	D248G	probably damaging	Het
Cma2	T	C	14: 56,210,249 (GRCm39)	Y45H	probably damaging	Het
Cmas	C	A	6: 142,720,970 (GRCm39)	Y401*	probably null	Het
Cyp2j8	A	T	4: 96,332,871 (GRCm39)	S492T	probably benign	Het
Dnah12	T	C	14: 26,430,465 (GRCm39)	S358P	probably benign	Het
Dnajc13	T	C	9: 104,079,151 (GRCm39)		probably null	Het
Ep400	A	C	5: 110,832,933 (GRCm39)		probably benign	Het
Fam209	T	A	2: 172,314,758 (GRCm39)	N82K	probably benign	Het
G3bp2	A	T	5: 92,221,056 (GRCm39)	Y20N	probably damaging	Het
Gli2	T	C	1: 118,765,379 (GRCm39)	D924G	probably benign	Het
Gm10787	T	C	10: 76,857,850 (GRCm39)		noncoding transcript	Het
Gm11568	A	G	11: 99,748,872 (GRCm39)	R26G	unknown	Het
Hivep3	T	G	4: 119,953,763 (GRCm39)	L693R	probably damaging	Het
Ibtk	A	C	9: 85,619,591 (GRCm39)	D116E	probably damaging	Het
Insrr	C	T	3: 87,718,288 (GRCm39)	T927I	possibly damaging	Het
Irx1	T	G	13: 72,107,747 (GRCm39)	S312R	probably benign	Het
Itga11	T	C	9: 62,659,570 (GRCm39)	Y441H	probably benign	Het
Itsn1	A	G	16: 91,696,511 (GRCm39)	D38G	possibly damaging	Het
Kat6b	G	T	14: 21,719,489 (GRCm39)	E1280D	probably benign	Het
Kcnk10	T	A	12: 98,402,560 (GRCm39)	Y293F	possibly damaging	Het
Krt74	T	A	15: 101,669,398 (GRCm39)		noncoding transcript	Het
Lars1	T	G	18: 42,347,902 (GRCm39)	I974L	probably benign	Het
Limch1	A	G	5: 67,126,498 (GRCm39)	D42G	probably damaging	Het
Mau2	G	C	8: 70,495,082 (GRCm39)	T85R	probably damaging	Het
Mkrn3	A	G	7: 62,068,612 (GRCm39)	I393T	probably benign	Het
Mpl	A	C	4: 118,301,217 (GRCm39)	S541R	probably damaging	Het
Nfrkb	T	C	9: 31,321,564 (GRCm39)	S754P	possibly damaging	Het
Or4c125	A	G	2: 89,170,580 (GRCm39)	L22P	probably benign	Het
Or5bw2	T	C	7: 6,573,652 (GRCm39)	Y221H	possibly damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or8g18	T	A	9: 39,149,496 (GRCm39)	T75S	probably damaging	Het
P2rx7	A	T	5: 122,811,861 (GRCm39)	I391F	possibly damaging	Het
Pbrm1	T	A	14: 30,807,016 (GRCm39)		probably null	Het
Pcdh8	T	C	14: 80,007,516 (GRCm39)	D349G	probably damaging	Het
Pias1	A	G	9: 62,789,291 (GRCm39)	S639P	possibly damaging	Het
Pkhd1l1	A	T	15: 44,347,820 (GRCm39)	I232F	probably damaging	Het
Plxnc1	C	T	10: 94,673,797 (GRCm39)	R995Q	probably damaging	Het
Pnliprp2	T	A	19: 58,762,519 (GRCm39)	S375T	probably benign	Het
Prkar1b	C	T	5: 139,005,847 (GRCm39)	V313M	probably benign	Het
Prr35	T	C	17: 26,166,523 (GRCm39)	N338S	probably benign	Het
Ptpn13	T	C	5: 103,677,583 (GRCm39)	S734P	probably damaging	Het
Rdh1	T	C	10: 127,595,810 (GRCm39)	W2R	possibly damaging	Het
Rsph10b	A	T	5: 143,886,156 (GRCm39)	I285L	probably benign	Het
Rubcnl	T	C	14: 75,284,987 (GRCm39)	F502S	probably damaging	Het
Ryr2	T	A	13: 11,653,329 (GRCm39)	I3693F	probably damaging	Het
Ryr2	T	C	13: 11,814,747 (GRCm39)	Y675C	probably damaging	Het
Scaper	T	C	9: 55,593,207 (GRCm39)	T477A	probably benign	Het
Scn2a	G	T	2: 65,542,269 (GRCm39)	V791L	probably benign	Het
Sdk1	A	T	5: 142,117,820 (GRCm39)	T1573S	probably damaging	Het
Sema3c	A	T	5: 17,919,413 (GRCm39)	H483L	probably benign	Het
Sema6c	T	C	3: 95,076,002 (GRCm39)	S219P	probably damaging	Het
Slc10a5	T	G	3: 10,400,177 (GRCm39)	E161A	probably damaging	Het
Slc22a23	C	T	13: 34,528,366 (GRCm39)	G139S	possibly damaging	Het
Slc34a3	C	T	2: 25,123,077 (GRCm39)		probably benign	Het
Slc38a9	A	T	13: 112,865,730 (GRCm39)		probably null	Het
Taok1	A	C	11: 77,450,670 (GRCm39)	S367R	possibly damaging	Het
Tlr6	G	A	5: 65,112,203 (GRCm39)	Q235*	probably null	Het
Top2a	A	G	11: 98,887,665 (GRCm39)	V1281A	probably benign	Het
Tpgs1	T	C	10: 79,511,616 (GRCm39)	Y253H	probably damaging	Het
Tubgcp3	T	C	8: 12,703,462 (GRCm39)	T288A	probably benign	Het
Ubr4	A	G	4: 139,154,213 (GRCm39)	E2140G	probably benign	Het
Uso1	A	G	5: 92,321,878 (GRCm39)	Q257R	probably benign	Het
Zfp106	A	G	2: 120,362,677 (GRCm39)	V48A	probably damaging	Het
Zfp174	T	A	16: 3,666,118 (GRCm39)	S128T	possibly damaging	Het
Zscan26	T	A	13: 21,629,225 (GRCm39)	D426V	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
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
R9288:Hook1	UTSW	4	95,901,505 (GRCm39)	missense	probably damaging	1.00
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'- AGGCAAGCATGGGTCCCCTTTAAC -3'
(R):5'- GCAGCATTCATTGCTAATGACAGGGAG -3'

Sequencing Primer
(F):5'- GGACCAGAATATTGCTGACTTG -3'
(R):5'- CTAATGACAGGGAGGTCTAGAAC -3'

Posted On

2013-06-11