Mutagenetix > Incidental Mutation

Incidental Mutation 'R7540:Zdhhc8'

583863

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc8

Ensembl Gene

ENSMUSG00000060166

Gene Name

zinc finger, DHHC domain containing 8

Synonyms

Op53c05, E330009O14Rik, D16H22S1738E

MMRRC Submission

045612-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.701) question?

Stock #

R7540 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18038617-18053000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18045674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 209 (V209A)

Ref Sequence

ENSEMBL: ENSMUSP00000076224 (fasta)

Gene Model

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

AlphaFold

Q5Y5T5

Predicted Effect

probably damaging
Transcript: ENSMUST00000076957
AA Change: V209A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076224
Gene: ENSMUSG00000060166
AA Change: V209A

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

Meta Mutation Damage Score

0.2759

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (48/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Adamts8	A	G	9: 30,870,360 (GRCm39)	E650G	probably damaging	Het
Adgrg7	G	A	16: 56,570,792 (GRCm39)	T412M	probably damaging	Het
Ank2	C	T	3: 126,781,808 (GRCm39)	V7I	possibly damaging	Het
Bpifb1	G	A	2: 154,055,031 (GRCm39)	V308M	probably damaging	Het
C3	A	G	17: 57,513,220 (GRCm39)	S1476P	probably benign	Het
Dgkb	A	T	12: 38,031,789 (GRCm39)		probably benign	Het
Fmn1	A	G	2: 113,359,655 (GRCm39)		probably null	Het
Foxb1	G	A	9: 69,667,141 (GRCm39)	Q130*	probably null	Het
Gemin5	C	T	11: 58,021,228 (GRCm39)		probably null	Het
Ghr	T	A	15: 3,349,396 (GRCm39)	D594V	possibly damaging	Het
Gm10272	A	C	10: 77,542,460 (GRCm39)	M1L	unknown	Het
Gpr161	G	A	1: 165,146,404 (GRCm39)	V447M	probably damaging	Het
Hspg2	T	A	4: 137,268,751 (GRCm39)	S2157T	possibly damaging	Het
Irs1	A	G	1: 82,265,723 (GRCm39)	V831A	not run	Het
Itga8	T	A	2: 12,115,848 (GRCm39)	I1014L	possibly damaging	Het
Iws1	T	A	18: 32,213,536 (GRCm39)	S321R	possibly damaging	Het
Kctd19	G	T	8: 106,113,567 (GRCm39)	P702Q	probably benign	Het
Man2c1	G	A	9: 57,047,559 (GRCm39)	D739N	probably damaging	Het
Mboat4	T	A	8: 34,591,178 (GRCm39)	L205Q	probably damaging	Het
Meis3	C	A	7: 15,911,418 (GRCm39)	Y38*	probably null	Het
Mroh7	G	T	4: 106,577,595 (GRCm39)	T361K	possibly damaging	Het
Msantd5f2	C	T	4: 73,586,648 (GRCm39)		probably benign	Het
Myl6b	T	A	10: 128,332,149 (GRCm39)	K106*	probably null	Het
Naaa	T	A	5: 92,411,583 (GRCm39)	T241S	probably benign	Het
Neurog3	T	G	10: 61,969,756 (GRCm39)	I172S	probably benign	Het
Nub1	T	G	5: 24,906,527 (GRCm39)	I351R	probably damaging	Het
Or2t47	C	A	11: 58,442,457 (GRCm39)	V203L	possibly damaging	Het
Or3a1c	A	T	11: 74,046,414 (GRCm39)	R145W	probably benign	Het
Or6c207	A	T	10: 129,105,003 (GRCm39)	F63Y	probably benign	Het
Osbp2	T	C	11: 3,667,944 (GRCm39)	K18E	probably damaging	Het
Pcdh8	A	T	14: 80,008,543 (GRCm39)	W7R	probably benign	Het
Pcsk7	G	T	9: 45,838,971 (GRCm39)		probably null	Het
Plin4	G	A	17: 56,411,883 (GRCm39)	T716I	probably damaging	Het
Prkcb	G	A	7: 122,167,357 (GRCm39)	V356I	probably damaging	Het
Pus7	G	A	5: 23,965,244 (GRCm39)	T304I	probably damaging	Het
Rmnd1	A	G	10: 4,353,989 (GRCm39)	V402A	probably damaging	Het
Slmap	T	C	14: 26,181,346 (GRCm39)	E329G	probably damaging	Het
Sytl3	T	C	17: 6,949,346 (GRCm39)		probably benign	Het
Tg	A	G	15: 66,561,776 (GRCm39)	I1087V	probably benign	Het
Tmco1	A	G	1: 167,153,572 (GRCm39)	T162A		Het
Tti1	G	A	2: 157,849,916 (GRCm39)	T441I	probably benign	Het
Tubgcp6	G	T	15: 88,986,526 (GRCm39)	Q1366K	possibly damaging	Het
Ush1g	T	C	11: 115,209,399 (GRCm39)	K265R	probably benign	Het
Zfp160	T	A	17: 21,245,922 (GRCm39)	Y157*	probably null	Het
Zfp423	A	T	8: 88,414,695 (GRCm39)	C1208S	possibly damaging	Het
Zfyve26	A	T	12: 79,315,450 (GRCm39)	V1342E	probably damaging	Het
Zmym1	A	T	4: 126,942,550 (GRCm39)	C613S	probably benign	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
R5825:Zdhhc8	UTSW	16	18,046,538 (GRCm39)	missense	probably null	0.99
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
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'- TAGTGGCTGCAGTGTCCATG -3'
(R):5'- CCTTGTCTTCAAATGGCCCAG -3'

Sequencing Primer
(F):5'- TCCATGGGTCACAAGTATGC -3'
(R):5'- TCGGCAGCATATCCTGGG -3'

Posted On

2019-10-17