Mutagenetix > Incidental Mutation

Incidental Mutation 'R2119:Zdhhc17'

231305

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc17

Ensembl Gene

ENSMUSG00000035798

Gene Name

zinc finger, DHHC domain containing 17

Synonyms

Hip14, A230053P19Rik, D130071N24Rik

MMRRC Submission

040123-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110941780-111010140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110982048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 90 (N90D)

Ref Sequence

ENSEMBL: ENSMUSP00000043279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041723] [ENSMUST00000219307]

AlphaFold

Q80TN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041723
AA Change: N90D

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798
AA Change: N90D

Domain	Start	End	E-Value	Type
Blast:ANK	57	85	2e-8	BLAST
ANK	89	118	6.71e-2	SMART
ANK	123	152	1.99e-4	SMART
ANK	156	185	1.61e-4	SMART
ANK	189	219	1.9e-1	SMART
ANK	224	253	1.53e-5	SMART
Blast:ANK	257	286	2e-11	BLAST
transmembrane domain	305	323	N/A	INTRINSIC
transmembrane domain	328	350	N/A	INTRINSIC
transmembrane domain	357	379	N/A	INTRINSIC
transmembrane domain	384	403	N/A	INTRINSIC
Pfam:zf-DHHC	434	570	1e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000099285

SMART Domains

Protein: ENSMUSP00000096889
Gene: ENSMUSG00000035798

Domain	Start	End	E-Value	Type
ANK	79	108	6.71e-2	SMART
ANK	113	142	1.99e-4	SMART
ANK	146	175	1.61e-4	SMART
ANK	179	209	1.9e-1	SMART
ANK	214	243	1.53e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218981

Predicted Effect

probably benign
Transcript: ENSMUST00000219307

Predicted Effect

unknown
Transcript: ENSMUST00000220247
AA Change: N78D

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reminiscent of Huntington disease (decreased body weight, impaired coordination, hyperactivity, increased rearing, decreased prepulse inhibition, increased stereotypic behavior, reduced striatum, and decreased brain weight). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,538,872	L143M	possibly damaging	Het
Actbl2	G	A	13: 111,255,160	V10I	probably benign	Het
Adamts12	C	T	15: 11,310,579	T974I	probably damaging	Het
Aifm2	G	A	10: 61,735,604	V306M	possibly damaging	Het
Arhgef38	T	C	3: 133,160,753	K208E	probably benign	Het
Atxn7l3	C	A	11: 102,291,981	R278L	possibly damaging	Het
Bcl9	A	G	3: 97,208,915	L821P	probably benign	Het
Cdh19	C	T	1: 110,919,590	V430I	probably benign	Het
Clns1a	T	A	7: 97,713,904		probably null	Het
Col3a1	T	A	1: 45,346,121	C133S	probably damaging	Het
Csmd1	G	A	8: 17,216,733	T59I	probably damaging	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Cyp2j8	A	T	4: 96,507,201	D62E	probably benign	Het
Dcbld1	A	T	10: 52,319,979	M428L	probably benign	Het
Dhx32	A	T	7: 133,722,247	Y523*	probably null	Het
Dlgap2	C	T	8: 14,778,206	A538V	possibly damaging	Het
Dlgap3	T	C	4: 127,236,189	S919P	probably benign	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dsc1	A	T	18: 20,110,152	H81Q	probably benign	Het
Dusp8	A	T	7: 142,082,561	S431T	possibly damaging	Het
Dync1i1	A	T	6: 5,767,096	T59S	probably damaging	Het
Ecel1	A	G	1: 87,148,275	S727P	probably damaging	Het
Ednrb	T	A	14: 103,821,768	D274V	probably benign	Het
Eef1d	G	T	15: 75,903,213	A199E	probably benign	Het
Eml3	T	A	19: 8,934,354		probably null	Het
Enah	G	T	1: 181,921,753	A138E	probably damaging	Het
Fgf18	A	C	11: 33,118,003	F129C	probably damaging	Het
Gba	A	T	3: 89,205,561	E170V	probably benign	Het
Hdac1	C	T	4: 129,522,364	R212Q	probably benign	Het
Heatr1	T	A	13: 12,432,646	L1740Q	probably null	Het
Inhbb	T	A	1: 119,420,701	H129L	probably benign	Het
Inpp5b	T	A	4: 124,797,869	H862Q	probably benign	Het
Itsn2	C	A	12: 4,707,025	R1372S	probably benign	Het
Jaml	T	A	9: 45,101,064	I283N	probably damaging	Het
Klk1b21	A	T	7: 44,105,769	T163S	probably benign	Het
Lmo3	A	T	6: 138,416,494	C43S	probably damaging	Het
Metrn	C	T	17: 25,795,223	V210I	probably benign	Het
Ndufaf7	A	T	17: 78,945,013	I284F	possibly damaging	Het
Nlrp6	T	C	7: 140,926,444	V766A	probably benign	Het
Olfr713	A	G	7: 107,036,731	D192G	probably damaging	Het
Osbpl7	T	C	11: 97,056,079	S403P	probably benign	Het
Pabpc4l	T	C	3: 46,446,841	T123A	probably benign	Het
Pde6d	A	G	1: 86,545,802	F91L	probably benign	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Psmd1	T	A	1: 86,078,700	S263T	possibly damaging	Het
Pum1	C	A	4: 130,669,270	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,404,395	M156K	probably benign	Het
Reln	T	A	5: 22,019,000	E917V	probably damaging	Het
Rfc4	A	T	16: 23,124,564	V61E	probably damaging	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rpe	T	C	1: 66,715,228	M153T	probably damaging	Het
Rtn4ip1	A	G	10: 43,935,997		probably null	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Scamp5	C	A	9: 57,447,225	V49F	possibly damaging	Het
Serhl	A	G	15: 83,115,575	Q252R	probably benign	Het
Sestd1	T	C	2: 77,212,523	D229G	probably benign	Het
Slc35g1	T	C	19: 38,403,287	V339A	probably benign	Het
Slc9b2	T	A	3: 135,328,982		probably null	Het
Stk40	C	T	4: 126,128,847	T138I	probably benign	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Tep1	T	G	14: 50,838,986	K1664Q	probably benign	Het
Tmod2	T	C	9: 75,586,095	K193E	possibly damaging	Het
Trak1	T	A	9: 121,472,997	*940R	probably null	Het
Ttc5	A	T	14: 50,775,365	Y189N	probably damaging	Het
Ugt2a3	A	T	5: 87,336,571	M198K	probably damaging	Het
Uox	A	G	3: 146,612,542	H66R	probably benign	Het
Usp9y	A	T	Y: 1,303,451	D2487E	probably benign	Het
Vnn3	G	A	10: 23,864,413	G205R	probably damaging	Het
Vps11	T	C	9: 44,348,997	D856G	probably benign	Het
Zfp105	T	A	9: 122,929,678	L138*	probably null	Het
Zfp28	A	G	7: 6,394,876	Y770C	probably benign	Het
Zfp655	T	A	5: 145,244,784	L484Q	probably damaging	Het
Zfp868	C	A	8: 69,611,995	E230*	probably null	Het
Zfpm2	A	G	15: 41,103,023	Y836C	probably damaging	Het

Other mutations in Zdhhc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Zdhhc17	APN	10	110946193	missense	probably damaging	1.00
IGL01812:Zdhhc17	APN	10	110948217	missense	possibly damaging	0.93
IGL01948:Zdhhc17	APN	10	110946276	missense	possibly damaging	0.56
IGL02002:Zdhhc17	APN	10	110967689	missense	probably benign
IGL03263:Zdhhc17	APN	10	110961016	missense	probably damaging	1.00
R0153:Zdhhc17	UTSW	10	110955094	nonsense	probably null
R0375:Zdhhc17	UTSW	10	110982106	nonsense	probably null
R0436:Zdhhc17	UTSW	10	110981990	splice site	probably null
R1452:Zdhhc17	UTSW	10	110955075	missense	probably benign	0.04
R1496:Zdhhc17	UTSW	10	110946210	missense	probably damaging	0.99
R1528:Zdhhc17	UTSW	10	110948189	critical splice donor site	probably null
R1856:Zdhhc17	UTSW	10	110947293	splice site	probably null
R3747:Zdhhc17	UTSW	10	110944420	missense	probably benign	0.24
R4900:Zdhhc17	UTSW	10	110985958	missense	possibly damaging	0.95
R5647:Zdhhc17	UTSW	10	110973833	missense	probably damaging	1.00
R5758:Zdhhc17	UTSW	10	110944395	makesense	probably null
R6228:Zdhhc17	UTSW	10	110956355	missense	probably benign	0.01
R6823:Zdhhc17	UTSW	10	110955111	missense	possibly damaging	0.91
R7172:Zdhhc17	UTSW	10	111009948	missense	possibly damaging	0.82
R7874:Zdhhc17	UTSW	10	110982117	missense	possibly damaging	0.93
R8353:Zdhhc17	UTSW	10	111009942	missense	probably benign	0.09
R8674:Zdhhc17	UTSW	10	110949679	missense	probably benign	0.25
R8676:Zdhhc17	UTSW	10	110962379	intron	probably benign
R8810:Zdhhc17	UTSW	10	110948260	missense	possibly damaging	0.85
R9014:Zdhhc17	UTSW	10	110949683	missense	probably benign	0.22
R9028:Zdhhc17	UTSW	10	110961073	missense	probably damaging	0.97
R9147:Zdhhc17	UTSW	10	110949642	missense	possibly damaging	0.83
R9148:Zdhhc17	UTSW	10	110949642	missense	possibly damaging	0.83
R9160:Zdhhc17	UTSW	10	110947328	missense	probably damaging	0.98
R9186:Zdhhc17	UTSW	10	110944420	missense	probably benign	0.24
R9360:Zdhhc17	UTSW	10	110947304	missense	probably benign	0.00
Z1088:Zdhhc17	UTSW	10	110945466	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGTGGAAAAGTACTCTACAGG -3'
(R):5'- GGGTTAGTAAAAGCTGTTGAAATACTG -3'

Sequencing Primer
(F):5'- ACAGGACTTTACCCTTGTAAGTC -3'
(R):5'- ACAAGTGTGATTCTAGCAACTTGGG -3'

Posted On

2014-09-18