Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02706:Zdhhc8'

304344

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zdhhc8

Ensembl Gene

ENSMUSG00000060166

Gene Name

zinc finger, DHHC domain containing 8

Synonyms

Op53c05, E330009O14Rik, D16H22S1738E

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.701) question?

Stock #

IGL02706

Quality Score

Status

Chromosome

Chromosomal Location

18038617-18053000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 18042758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 481 (L481I)

Ref Sequence

ENSEMBL: ENSMUSP00000076224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076957] [ENSMUST00000231369] [ENSMUST00000231860] [ENSMUST00000231965]

AlphaFold

Q5Y5T5

Predicted Effect

probably damaging
Transcript: ENSMUST00000076957
AA Change: L481I

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

SMART Domains

Protein: ENSMUSP00000076224
Gene: ENSMUSG00000060166
AA Change: L481I

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: ENSMUST00000231369

Predicted Effect

probably benign
Transcript: ENSMUST00000231412

Predicted Effect

probably benign
Transcript: ENSMUST00000231860

Predicted Effect

probably benign
Transcript: ENSMUST00000231965

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,517,966 (GRCm39)	E781G	probably benign	Het
Abcc8	C	T	7: 45,816,345 (GRCm39)	R265Q	probably benign	Het
Agtr1b	A	T	3: 20,370,027 (GRCm39)	I193N	probably benign	Het
Atp6v1e2	A	G	17: 87,252,362 (GRCm39)	I12T	probably damaging	Het
Cacna1g	T	C	11: 94,347,818 (GRCm39)	T757A	probably damaging	Het
Cldn15	A	G	5: 137,003,685 (GRCm39)	K200R	probably benign	Het
Dip2b	G	T	15: 100,113,192 (GRCm39)	V1302F	probably damaging	Het
Dnajb6	T	A	5: 29,957,421 (GRCm39)	Y68N	probably damaging	Het
Dok1	T	A	6: 83,009,315 (GRCm39)	E179V	probably damaging	Het
Epha4	T	C	1: 77,403,482 (GRCm39)	T342A	probably damaging	Het
Etf1	A	T	18: 35,064,690 (GRCm39)	S6R	possibly damaging	Het
Fryl	T	C	5: 73,250,506 (GRCm39)	I987V	probably benign	Het
Gba2	C	T	4: 43,567,257 (GRCm39)	G897S	probably benign	Het
Habp2	G	T	19: 56,298,570 (GRCm39)		probably null	Het
Hapln1	G	T	13: 89,753,578 (GRCm39)	S248I	possibly damaging	Het
Hydin	A	G	8: 111,137,198 (GRCm39)	D667G	probably damaging	Het
Kcnma1	T	A	14: 23,359,222 (GRCm39)	H1074L	probably damaging	Het
Kctd9	T	C	14: 67,962,130 (GRCm39)		probably null	Het
L3mbtl4	A	G	17: 68,793,914 (GRCm39)	D306G	probably damaging	Het
Lgalsl	T	C	11: 20,780,090 (GRCm39)	R49G	probably damaging	Het
Lpo	C	T	11: 87,708,599 (GRCm39)	S133N	probably benign	Het
Lrp8	A	T	4: 107,660,516 (GRCm39)	R59*	probably null	Het
Mctp1	T	C	13: 76,971,188 (GRCm39)	F629S	probably damaging	Het
Med1	A	G	11: 98,047,533 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,944,699 (GRCm39)	H555R	probably damaging	Het
Nedd1	T	C	10: 92,522,147 (GRCm39)	H630R	possibly damaging	Het
Nr3c2	A	T	8: 77,635,045 (GRCm39)		probably null	Het
Nubp2	A	T	17: 25,102,171 (GRCm39)	V267E	probably benign	Het
Oacyl	A	T	18: 65,882,792 (GRCm39)	Y629F	probably damaging	Het
Or1n1b	A	G	2: 36,780,731 (GRCm39)	I43T	probably damaging	Het
Or1x2	T	A	11: 50,918,091 (GRCm39)	H87Q	probably damaging	Het
Or5b119	A	T	19: 13,457,462 (GRCm39)	Y33*	probably null	Het
Pknox2	T	C	9: 36,847,675 (GRCm39)	H114R	probably benign	Het
Ppp2r1b	A	G	9: 50,790,134 (GRCm39)	D564G	possibly damaging	Het
Ppp3ca	T	G	3: 136,611,079 (GRCm39)	N367K	possibly damaging	Het
Ptprn2	T	C	12: 116,852,518 (GRCm39)	V525A	probably damaging	Het
Reps1	T	G	10: 17,998,763 (GRCm39)		probably benign	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Sipa1l1	A	G	12: 82,444,207 (GRCm39)	I973V	possibly damaging	Het
Ssh2	T	A	11: 77,344,232 (GRCm39)	V739D	possibly damaging	Het
Tbc1d24	A	G	17: 24,404,395 (GRCm39)	F250L	probably benign	Het
Ube3a	T	A	7: 58,921,881 (GRCm39)	H84Q	possibly damaging	Het
Usp34	T	C	11: 23,338,659 (GRCm39)		probably benign	Het
Zfp574	A	G	7: 24,780,790 (GRCm39)	H604R	probably damaging	Het
Zfp945	A	T	17: 23,076,256 (GRCm39)	M63K	probably 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
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
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

Posted On

2015-04-16