Mutagenetix > Incidental Mutation

Incidental Mutation 'R5546:Hook1'

436272

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

043104-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95855477-95913650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 95890765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 291 (E291D)

Ref Sequence

ENSEMBL: ENSMUSP00000030306 (fasta)

Gene Model

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

AlphaFold

Q8BIL5

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030306
AA Change: E291D

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000030306
Gene: ENSMUSG00000028572
AA Change: E291D

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: ENSMUST00000124202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148291

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,806,832 (GRCm39)	N385S	probably benign	Het
Ahctf1	A	T	1: 179,581,633 (GRCm39)	I1523N	probably benign	Het
Akna	C	T	4: 63,313,196 (GRCm39)	G309E	probably benign	Het
Akna	T	C	4: 63,313,803 (GRCm39)	N107D	probably benign	Het
Arhgef15	G	A	11: 68,844,877 (GRCm39)	P240L	probably benign	Het
Brd1	T	A	15: 88,585,325 (GRCm39)	E836D	probably benign	Het
Brf2	A	G	8: 27,614,311 (GRCm39)	S292P	possibly damaging	Het
C3	A	G	17: 57,529,976 (GRCm39)	L500P	probably damaging	Het
Cblif	T	C	19: 11,725,859 (GRCm39)	S50P	possibly damaging	Het
Ccdc107	T	C	4: 43,495,685 (GRCm39)	L196P	probably damaging	Het
Cdcp1	G	T	9: 123,007,094 (GRCm39)	P551Q	probably damaging	Het
Ckap5	T	C	2: 91,425,161 (GRCm39)	L1224P	probably damaging	Het
Csnk1g2	C	A	10: 80,474,232 (GRCm39)	T178K	probably benign	Het
Ctsq	A	T	13: 61,185,702 (GRCm39)	C146*	probably null	Het
Cyp2ab1	T	A	16: 20,132,507 (GRCm39)	I264F	probably damaging	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 34,131,615 (GRCm39)		probably benign	Het
Dnah11	G	A	12: 117,939,583 (GRCm39)	T3179M	possibly damaging	Het
Dnah7c	A	T	1: 46,705,477 (GRCm39)	T2497S	probably damaging	Het
Eif4enif1	T	C	11: 3,193,989 (GRCm39)	V776A	probably damaging	Het
Erbb4	G	T	1: 68,337,452 (GRCm39)	T622N	probably damaging	Het
Erich6	A	G	3: 58,526,218 (GRCm39)	Y595H	probably benign	Het
Fam107a	C	T	14: 8,298,764 (GRCm38)	A121T	probably benign	Het
Gpatch11	C	T	17: 79,149,548 (GRCm39)	Q183*	probably null	Het
Gpr161	C	A	1: 165,133,982 (GRCm39)	F81L	possibly damaging	Het
Hsf2bp	T	A	17: 32,165,669 (GRCm39)	I309F	probably damaging	Het
Hspg2	T	C	4: 137,275,485 (GRCm39)		probably null	Het
Ide	T	G	19: 37,249,623 (GRCm39)	M910L	unknown	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kmt2d	T	C	15: 98,750,949 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,581,518 (GRCm39)	Y768H	probably damaging	Het
Mageb3	A	G	2: 121,784,868 (GRCm39)	V278A	probably damaging	Het
Mapkbp1	G	A	2: 119,849,724 (GRCm39)	R732H	probably damaging	Het
Marveld2	T	C	13: 100,737,446 (GRCm39)	I148V	probably benign	Het
Mast1	G	C	8: 85,642,889 (GRCm39)	P969A	probably damaging	Het
Myh10	T	G	11: 68,689,206 (GRCm39)	V1261G	possibly damaging	Het
Nlrp1b	A	T	11: 71,108,102 (GRCm39)	H466Q	probably benign	Het
Npr2	T	G	4: 43,650,150 (GRCm39)	V905G	probably damaging	Het
Oip5	T	A	2: 119,440,808 (GRCm39)	I240F	unknown	Het
Or4c12	A	G	2: 89,773,929 (GRCm39)	C177R	probably damaging	Het
Or5k8	G	T	16: 58,644,516 (GRCm39)	Y185*	probably null	Het
Or8b12	T	A	9: 37,657,820 (GRCm39)	M130K	probably benign	Het
Pcsk2	G	A	2: 143,388,480 (GRCm39)	A24T	probably benign	Het
Plxnb1	G	T	9: 108,929,818 (GRCm39)	G225W	probably damaging	Het
Polr1a	T	C	6: 71,906,350 (GRCm39)	S389P	possibly damaging	Het
Prkca	A	G	11: 107,944,806 (GRCm39)	V175A	probably benign	Het
Rassf7	C	A	7: 140,796,973 (GRCm39)		probably null	Het
Rbl2	A	G	8: 91,805,560 (GRCm39)	I206V	probably benign	Het
Rnf111	A	T	9: 70,366,378 (GRCm39)	H353Q	probably benign	Het
Rpn1	T	G	6: 88,070,841 (GRCm39)	V237G	probably damaging	Het
Sec61a2	T	A	2: 5,881,351 (GRCm39)	I267F	possibly damaging	Het
Spop	G	T	11: 95,376,669 (GRCm39)	V241F	probably damaging	Het
Sptbn2	C	T	19: 4,775,978 (GRCm39)	A178V	probably damaging	Het
Stard13	A	G	5: 150,969,366 (GRCm39)	Y791H	probably benign	Het
Susd2	T	A	10: 75,478,052 (GRCm39)	I113L	probably benign	Het
Tcof1	T	C	18: 60,964,628 (GRCm39)	E666G	possibly damaging	Het
Tekt5	G	T	16: 10,179,254 (GRCm39)	A371E	possibly damaging	Het
Thap11	G	A	8: 106,582,548 (GRCm39)	E186K	probably damaging	Het
Tk2	A	T	8: 104,974,315 (GRCm39)	D45E	possibly damaging	Het
Tuba8	C	A	6: 121,199,872 (GRCm39)	Y185*	probably null	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Wfdc8	A	T	2: 164,439,239 (GRCm39)		probably benign	Het
Zar1l	T	C	5: 150,436,365 (GRCm39)	N237S	probably damaging	Het
Zfp607b	A	T	7: 27,402,032 (GRCm39)	T163S	probably benign	Het
Zfp619	C	A	7: 39,184,577 (GRCm39)	H202Q	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
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'- GAGCACCATTTACCTTTCAGTTG -3'
(R):5'- CAGAAGATGACCCAGAAGTCTC -3'

Sequencing Primer
(F):5'- GTCCTACCAACTTCATATAGTGT -3'
(R):5'- GTCTCAATAAAGTGACCACTGATC -3'

Posted On

2016-10-24