Mutagenetix > Incidental Mutation

Incidental Mutation 'R9256:Zdhhc8'

701900

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc8

Ensembl Gene

ENSMUSG00000060166

Gene Name

zinc finger, DHHC domain containing 8

Synonyms

Op53c05, E330009O14Rik, D16H22S1738E

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.701) question?

Stock #

R9256 (G1)

Quality Score

218.009

Status

Validated

Chromosome

Chromosomal Location

18038617-18053000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18042686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 505 (P505S)

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: P505S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076224
Gene: ENSMUSG00000060166
AA Change: P505S

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (70/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,945,930 (GRCm39)	Y21C	probably damaging	Het
Adamts7	A	T	9: 90,060,218 (GRCm39)	I290F	probably damaging	Het
Adcy5	G	A	16: 35,124,052 (GRCm39)	V1244I	probably damaging	Het
Adnp	A	T	2: 168,025,945 (GRCm39)	I450N	probably damaging	Het
AL732309.1	A	T	2: 25,136,211 (GRCm39)	M1K	probably null	Het
Alox15	C	T	11: 70,236,370 (GRCm39)	G510D	possibly damaging	Het
Arhgef16	C	A	4: 154,363,502 (GRCm39)	E685*	probably null	Het
Atp13a2	A	G	4: 140,730,038 (GRCm39)	E643G	probably damaging	Het
AW554918	C	A	18: 25,423,061 (GRCm39)	Q171K	probably damaging	Het
Bdkrb2	A	G	12: 105,558,352 (GRCm39)	T198A	probably benign	Het
C7	T	C	15: 5,023,645 (GRCm39)	E721G	probably damaging	Het
Cc2d2b	T	C	19: 40,797,848 (GRCm39)	Y823H	unknown	Het
Cd74	T	C	18: 60,944,366 (GRCm39)	V192A	probably benign	Het
Cdc42bpg	G	A	19: 6,361,067 (GRCm39)	A231T	probably damaging	Het
Cers6	G	A	2: 68,777,706 (GRCm39)		probably benign	Het
Copg2	T	C	6: 30,788,637 (GRCm39)	I555M	probably benign	Het
Cracd	T	G	5: 76,988,757 (GRCm39)	V36G	unknown	Het
Crnkl1	A	G	2: 145,770,216 (GRCm39)	V209A	possibly damaging	Het
Dock7	T	C	4: 98,971,272 (GRCm39)	T98A		Het
Enpp5	T	C	17: 44,396,414 (GRCm39)	I442T	probably benign	Het
Fbxw19	T	C	9: 109,310,641 (GRCm39)	Y427C	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Fyb1	T	G	15: 6,674,358 (GRCm39)	S665A	possibly damaging	Het
Igkv6-20	T	C	6: 70,313,417 (GRCm39)	Y16C	probably benign	Het
Ints10	A	G	8: 69,261,129 (GRCm39)	R370G	possibly damaging	Het
Iqub	A	T	6: 24,446,198 (GRCm39)	I742N	possibly damaging	Het
Kcnn3	T	C	3: 89,574,407 (GRCm39)	Y640H	probably damaging	Het
Lrp2	A	G	2: 69,341,303 (GRCm39)	V959A	probably benign	Het
Marcksl1	A	G	4: 129,408,816 (GRCm39)	S132G	probably benign	Het
Mfsd4b3-ps	T	A	10: 39,824,010 (GRCm39)	K83N	probably damaging	Het
Mib1	A	G	18: 10,760,862 (GRCm39)	E384G	possibly damaging	Het
Morn5	G	T	2: 35,939,553 (GRCm39)	G5W	probably damaging	Het
Mrpl46	A	G	7: 78,432,671 (GRCm39)	S36P	probably benign	Het
Mtif2	T	C	11: 29,490,777 (GRCm39)	F494L	probably benign	Het
Naalad2	T	C	9: 18,274,534 (GRCm39)	N336S	probably benign	Het
Nepro	A	G	16: 44,544,790 (GRCm39)	N22S	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Or10x4	C	T	1: 174,219,109 (GRCm39)	T158I	probably benign	Het
Or1e1f	A	T	11: 73,856,135 (GRCm39)	I234F	probably benign	Het
Or2d36	T	C	7: 106,747,387 (GRCm39)	I288T	probably damaging	Het
Or8c16	T	A	9: 38,130,498 (GRCm39)	Y123*	probably null	Het
Or9r7	A	G	10: 129,962,335 (GRCm39)	V197A	possibly damaging	Het
Pcnx1	A	T	12: 82,020,047 (GRCm39)	N724Y		Het
Pde8b	G	A	13: 95,164,204 (GRCm39)	R669C	probably damaging	Het
Pkhd1l1	T	A	15: 44,397,290 (GRCm39)		probably null	Het
Pls1	A	G	9: 95,655,696 (GRCm39)	V352A	probably damaging	Het
Prb1b	T	C	6: 132,288,972 (GRCm39)	N284S	unknown	Het
Prtg	A	T	9: 72,758,977 (GRCm39)	I444F	probably damaging	Het
Ptprb	A	T	10: 116,219,776 (GRCm39)	H1998L	probably damaging	Het
Qrich2	A	T	11: 116,356,450 (GRCm39)	V133D	probably benign	Het
Rab35	C	A	5: 115,778,246 (GRCm39)	R71S	probably damaging	Het
Scgb2b12	A	G	7: 32,026,054 (GRCm39)	L46P	probably damaging	Het
Sdha	A	T	13: 74,475,483 (GRCm39)		probably benign	Het
Sdr39u1	C	A	14: 56,135,209 (GRCm39)	V245F	probably benign	Het
Sgo2a	T	A	1: 58,058,772 (GRCm39)	V1117E	possibly damaging	Het
Slc12a2	T	C	18: 58,074,867 (GRCm39)	S1154P	probably damaging	Het
Slc6a1	A	T	6: 114,287,554 (GRCm39)	Q441L	possibly damaging	Het
Smtnl2	A	T	11: 72,293,835 (GRCm39)		probably null	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem38b	A	T	4: 53,848,924 (GRCm39)	I110F	probably damaging	Het
Ubqln1	A	G	13: 58,325,721 (GRCm39)	I573T	probably damaging	Het
Usp9y	T	C	Y: 1,356,235 (GRCm39)	I1155M	possibly damaging	Het
Vipr1	A	G	9: 121,490,118 (GRCm39)	I164V	probably benign	Het
Vps13b	T	G	15: 35,623,925 (GRCm39)	S1281A	possibly damaging	Het
Vps13d	A	G	4: 144,882,374 (GRCm39)	L1073P		Het
Wipi1	C	T	11: 109,473,952 (GRCm39)		probably null	Het
Zfp292	C	T	4: 34,839,899 (GRCm39)	V84I	probably benign	Het
Zfp712	T	C	13: 67,188,791 (GRCm39)	T579A	probably benign	Het
Zfp788	G	A	7: 41,299,638 (GRCm39)	R758Q	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
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
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'- TGTATCATAGACACCAGAGTCGC -3'
(R):5'- ATGACCTTACAGCCACTGCG -3'

Sequencing Primer
(F):5'- TCGCCAAAGAGTGAGTCAGTCTG -3'
(R):5'- TACAGCCACTGCGCTCTGAAG -3'

Posted On

2022-03-25