Mutagenetix > Incidental Mutation

Incidental Mutation 'R5825:Zdhhc8'

450144

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc8

Ensembl Gene

ENSMUSG00000060166

Gene Name

zinc finger, DHHC domain containing 8

Synonyms

Op53c05, E330009O14Rik, D16H22S1738E

MMRRC Submission

044053-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.701) question?

Stock #

R5825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18038617-18053000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18046538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 63 (S63G)

Ref Sequence

ENSEMBL: ENSMUSP00000076224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076957]

AlphaFold

Q5Y5T5

Predicted Effect

probably null
Transcript: ENSMUST00000076957
AA Change: S63G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076224
Gene: ENSMUSG00000060166
AA Change: S63G

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
Pfam:zf-DHHC	99	224	4.8e-36	PFAM
low complexity region	304	318	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC
low complexity region	509	524	N/A	INTRINSIC
low complexity region	551	563	N/A	INTRINSIC
low complexity region	619	644	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231412

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 95.3%
20x: 83.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null females display impaired prepulse inhibition and reduced exploration in new environments. Homozygous null males display normal prepulse inhibition and only a slight decrease in exploration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,791,976 (GRCm39)	Y217*	probably null	Het
Abca2	A	T	2: 25,326,748 (GRCm39)	I567F	probably benign	Het
Acss2	T	A	2: 155,391,098 (GRCm39)		probably null	Het
Atxn7l2	C	A	3: 108,112,127 (GRCm39)	A320S	probably damaging	Het
Bfsp1	C	T	2: 143,669,379 (GRCm39)	G400D	probably benign	Het
Ces5a	G	T	8: 94,252,295 (GRCm39)	A199D	probably damaging	Het
Cfhr4	T	A	1: 139,702,336 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,134,350 (GRCm39)		probably null	Het
Crebbp	A	G	16: 3,905,606 (GRCm39)	V1705A	probably damaging	Het
Cyp2j8	T	A	4: 96,395,451 (GRCm39)	Q58L	probably benign	Het
Dlec1	T	A	9: 118,972,036 (GRCm39)	I1379N	probably damaging	Het
Dnah9	T	C	11: 66,017,427 (GRCm39)	H593R	probably benign	Het
Ep300	T	A	15: 81,495,673 (GRCm39)	C412S	probably benign	Het
Fam110a	A	G	2: 151,811,961 (GRCm39)	S270P	probably damaging	Het
Gcc2	A	G	10: 58,130,643 (GRCm39)	T1412A	probably damaging	Het
Helz2	T	C	2: 180,874,449 (GRCm39)	E2015G	probably benign	Het
Hormad1	T	C	3: 95,469,870 (GRCm39)	V39A	probably damaging	Het
Igf2	G	T	7: 142,207,592 (GRCm39)	H168Q	probably damaging	Het
Il18rap	A	G	1: 40,570,726 (GRCm39)	T223A	probably benign	Het
Itpr2	T	C	6: 146,045,647 (GRCm39)	E2573G	probably damaging	Het
Jcad	T	A	18: 4,674,896 (GRCm39)	V886E	probably benign	Het
Klra1	T	C	6: 130,357,592 (GRCm39)	R12G	probably damaging	Het
Lamb1	A	G	12: 31,368,613 (GRCm39)	I1248V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Mapk7	C	T	11: 61,381,207 (GRCm39)	R465Q	possibly damaging	Het
Mogs	T	C	6: 83,095,193 (GRCm39)	V670A	possibly damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Ninl	A	T	2: 150,782,644 (GRCm39)	I1182N	probably damaging	Het
Nup160	A	G	2: 90,510,114 (GRCm39)		probably null	Het
Nynrin	A	G	14: 56,101,683 (GRCm39)	R451G	probably benign	Het
Or12e7	A	G	2: 87,287,794 (GRCm39)	D95G	probably benign	Het
Or5h22	T	C	16: 58,895,024 (GRCm39)	I140V	probably benign	Het
Osbp	A	G	19: 11,948,085 (GRCm39)	T131A	probably damaging	Het
Pcdhga12	A	C	18: 37,901,556 (GRCm39)	D796A	possibly damaging	Het
Pcdhgb8	G	A	18: 37,895,289 (GRCm39)	V120I	probably benign	Het
Pdgfb	A	T	15: 79,881,869 (GRCm39)	V213E	probably benign	Het
Phldb2	T	C	16: 45,583,460 (GRCm39)	M1013V	probably benign	Het
Pnma8a	A	G	7: 16,695,020 (GRCm39)	S292G	probably benign	Het
Prrt4	A	G	6: 29,177,182 (GRCm39)	S196P	probably benign	Het
Rap1gds1	T	C	3: 138,661,136 (GRCm39)	M463V	possibly damaging	Het
Tmprss11g	A	T	5: 86,646,392 (GRCm39)	S58R	probably damaging	Het
Traf3	C	A	12: 111,221,795 (GRCm39)	Q319K	probably benign	Het
Trappc8	C	T	18: 21,006,977 (GRCm39)	V194M	probably damaging	Het
Tyw1	A	G	5: 130,296,929 (GRCm39)	K182R	probably damaging	Het
Usp48	A	G	4: 137,350,689 (GRCm39)	T585A	probably benign	Het
Xkr6	G	T	14: 64,056,481 (GRCm39)	V387L	probably benign	Het
Yod1	T	C	1: 130,646,743 (GRCm39)	W207R	probably damaging	Het
Zfp827	A	G	8: 79,905,645 (GRCm39)	E874G	probably damaging	Het
Zfy1	T	A	Y: 726,531 (GRCm39)	K411N	possibly damaging	Het

Other mutations in Zdhhc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Zdhhc8	APN	16	18,043,060 (GRCm39)	missense	possibly damaging	0.66
IGL01994:Zdhhc8	APN	16	18,045,636 (GRCm39)	unclassified	probably benign
IGL02102:Zdhhc8	APN	16	18,043,063 (GRCm39)	missense	possibly damaging	0.95
IGL02706:Zdhhc8	APN	16	18,042,758 (GRCm39)	missense	probably damaging	1.00
IGL03287:Zdhhc8	APN	16	18,042,964 (GRCm39)	missense	probably benign	0.01
IGL03296:Zdhhc8	APN	16	18,044,587 (GRCm39)	missense	possibly damaging	0.94
R0066:Zdhhc8	UTSW	16	18,043,064 (GRCm39)	missense	probably benign	0.00
R0066:Zdhhc8	UTSW	16	18,043,064 (GRCm39)	missense	probably benign	0.00
R0491:Zdhhc8	UTSW	16	18,046,254 (GRCm39)	missense	probably damaging	0.99
R0838:Zdhhc8	UTSW	16	18,042,430 (GRCm39)	missense	probably damaging	0.99
R1567:Zdhhc8	UTSW	16	18,044,984 (GRCm39)	missense	probably benign	0.36
R2057:Zdhhc8	UTSW	16	18,046,210 (GRCm39)	missense	probably damaging	1.00
R3913:Zdhhc8	UTSW	16	18,044,587 (GRCm39)	missense	possibly damaging	0.94
R4690:Zdhhc8	UTSW	16	18,044,605 (GRCm39)	missense	probably damaging	0.96
R4902:Zdhhc8	UTSW	16	18,045,030 (GRCm39)	missense	probably benign
R5111:Zdhhc8	UTSW	16	18,044,612 (GRCm39)	missense	probably benign	0.00
R6111:Zdhhc8	UTSW	16	18,042,762 (GRCm39)	missense	probably damaging	1.00
R6152:Zdhhc8	UTSW	16	18,041,202 (GRCm39)	missense	possibly damaging	0.90
R7296:Zdhhc8	UTSW	16	18,052,790 (GRCm39)	missense	probably benign	0.00
R7450:Zdhhc8	UTSW	16	18,043,035 (GRCm39)	missense	probably benign	0.00
R7540:Zdhhc8	UTSW	16	18,045,674 (GRCm39)	missense	probably damaging	1.00
R9015:Zdhhc8	UTSW	16	18,041,141 (GRCm39)	missense	probably damaging	1.00
R9256:Zdhhc8	UTSW	16	18,042,686 (GRCm39)	missense	probably damaging	1.00
R9448:Zdhhc8	UTSW	16	18,039,558 (GRCm39)	missense
R9520:Zdhhc8	UTSW	16	18,045,044 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGGAAGTCATCCTCCTTGTC -3'
(R):5'- GCCCAGAAGCATACATATGGC -3'

Sequencing Primer
(F):5'- CGCTGGACATCAGGACCAGTAG -3'
(R):5'- AGCATACATATGGCTGCGTC -3'

Posted On

2016-12-20