Mutagenetix > Incidental Mutation

Incidental Mutation 'R0436:Zdhhc17'

39017

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc17

Ensembl Gene

ENSMUSG00000035798

Gene Name

zinc finger, DHHC domain containing 17

Synonyms

Hip14, A230053P19Rik, D130071N24Rik

MMRRC Submission

038637-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0436 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

110941780-111010140 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to T at 110981990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151330 (fasta)

Gene Model

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

AlphaFold

Q80TN5

Predicted Effect

probably null
Transcript: ENSMUST00000041723

SMART Domains

Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798

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 null
Transcript: ENSMUST00000219307

Predicted Effect

probably benign
Transcript: ENSMUST00000220247

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,543,445		probably benign	Het
Abcb10	C	T	8: 123,971,001	G195S	probably benign	Het
Adrb2	A	G	18: 62,179,553	V67A	possibly damaging	Het
Alx4	A	T	2: 93,668,357	K145*	probably null	Het
Arl8a	G	A	1: 135,146,980	M1I	probably null	Het
B230118H07Rik	T	C	2: 101,610,519		probably benign	Het
Btbd16	G	A	7: 130,786,053	S134N	probably benign	Het
Ccdc136	T	A	6: 29,414,934	L474Q	probably damaging	Het
Cebpz	A	G	17: 78,935,650	Y192H	probably benign	Het
Cep95	A	G	11: 106,818,685	Q109R	probably null	Het
Cfap54	G	T	10: 93,038,975	Q520K	possibly damaging	Het
Cog2	C	T	8: 124,548,514		probably benign	Het
Cul1	A	G	6: 47,523,773	N702S	probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Dmxl2	T	C	9: 54,383,750	D2472G	probably damaging	Het
Ect2	A	G	3: 27,150,095	F22L	probably benign	Het
Ehd4	A	T	2: 120,102,341	D201E	probably damaging	Het
Eif4ebp3	A	G	18: 36,664,301		probably null	Het
Exd2	T	C	12: 80,490,770		probably benign	Het
Gtf2a1	A	C	12: 91,568,273		probably null	Het
H2-DMb1	A	G	17: 34,159,656	Y256C	probably damaging	Het
Haus6	T	C	4: 86,585,807	R527G	probably benign	Het
Helb	C	T	10: 120,094,212		probably benign	Het
Hhatl	C	T	9: 121,788,762	A254T	probably benign	Het
Hk1	A	T	10: 62,299,275		probably benign	Het
Hmcn2	A	G	2: 31,405,612	K2611R	probably damaging	Het
Hrc	A	G	7: 45,336,133	H236R	possibly damaging	Het
Hunk	T	A	16: 90,464,154	Y178N	probably damaging	Het
Jakmip2	G	A	18: 43,558,169	Q616*	probably null	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Msantd4	C	T	9: 4,385,180	R302C	probably damaging	Het
Nae1	T	C	8: 104,523,236		probably benign	Het
Nek4	C	T	14: 30,970,472	L293F	probably damaging	Het
Odf2l	C	T	3: 145,126,116	T44I	possibly damaging	Het
Olfr601	A	G	7: 103,358,741	V151A	possibly damaging	Het
Otog	G	A	7: 46,265,936		probably benign	Het
Ppp1r21	C	T	17: 88,565,689	T425I	possibly damaging	Het
Prrc2b	A	G	2: 32,230,660	E2204G	probably damaging	Het
Prrc2c	A	C	1: 162,705,314		probably benign	Het
Prrxl1	T	C	14: 32,608,083	F81S	probably damaging	Het
Ptgs2	T	C	1: 150,104,277		probably benign	Het
Slc12a8	T	A	16: 33,551,085	V197E	probably damaging	Het
Syne3	A	G	12: 104,946,924	W593R	possibly damaging	Het
Tmem63a	A	T	1: 180,972,733	T696S	probably benign	Het
Tnks2	A	G	19: 36,849,358	D165G	possibly damaging	Het
Trim43a	T	C	9: 88,588,187	W349R	probably damaging	Het
Unc45b	T	C	11: 82,929,567		probably benign	Het
Vmn1r4	T	A	6: 56,956,962	N150K	probably damaging	Het
Wdfy4	C	A	14: 33,083,812		probably benign	Het
Wdr77	T	A	3: 105,960,026	D63E	probably damaging	Het
Zan	T	C	5: 137,464,902	T672A	unknown	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
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
R2119:Zdhhc17	UTSW	10	110982048	missense	possibly damaging	0.92
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'- GAATAAATCCCAGTCCCACTCTACCCTT -3'
(R):5'- CAATGAACCATTAAGCCAGTcacacaag -3'

Sequencing Primer
(F):5'- TACTTGGCAGCATAGTCAAGC -3'
(R):5'- gggagctgaggcaagagg -3'

Posted On

2013-05-23