Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01350:Zdhhc20'

75326

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zdhhc20

Ensembl Gene

ENSMUSG00000021969

Gene Name

zinc finger, DHHC domain containing 20

Synonyms

5033406L14Rik, 4930542A17Rik, ENSMUSG00000055956, B230110O18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

IGL01350

Quality Score

Status

Chromosome

Chromosomal Location

58070160-58127733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58111444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 52 (V52A)

Ref Sequence

ENSEMBL: ENSMUSP00000153568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089473] [ENSMUST00000226057]

AlphaFold

Q5Y5T1

Predicted Effect

probably benign
Transcript: ENSMUST00000089473
AA Change: V52A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000086900
Gene: ENSMUSG00000021969
AA Change: V52A

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
transmembrane domain	52	74	N/A	INTRINSIC
Pfam:zf-DHHC	121	250	2.2e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225955

Predicted Effect

probably benign
Transcript: ENSMUST00000226057
AA Change: V52A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,187,208 (GRCm39)	I926T	probably benign	Het
Adam39	T	A	8: 41,278,876 (GRCm39)	C422*	probably null	Het
Aldh1l1	A	G	6: 90,536,338 (GRCm39)	N81S	probably damaging	Het
Amd1	A	T	10: 40,166,186 (GRCm39)	Y264*	probably null	Het
Axl	T	C	7: 25,458,175 (GRCm39)	Y851C	probably damaging	Het
Ccdc70	T	C	8: 22,463,690 (GRCm39)	L160P	probably damaging	Het
Cd2ap	A	T	17: 43,136,812 (GRCm39)	Y273*	probably null	Het
Cyb5rl	T	C	4: 106,941,409 (GRCm39)	V278A	possibly damaging	Het
Cyp2c29	T	C	19: 39,318,771 (GRCm39)	F417S	probably damaging	Het
Dnah7b	C	A	1: 46,120,592 (GRCm39)		probably benign	Het
Epha4	A	T	1: 77,483,492 (GRCm39)	D172E	probably damaging	Het
Eya4	T	A	10: 22,989,873 (GRCm39)	I495F	possibly damaging	Het
Gpr150	A	T	13: 76,204,542 (GRCm39)	H134Q	probably benign	Het
Gpr153	T	G	4: 152,366,423 (GRCm39)		probably benign	Het
Hipk2	A	G	6: 38,795,250 (GRCm39)	Y333H	probably damaging	Het
Jakmip1	T	C	5: 37,242,775 (GRCm39)	M21T	probably benign	Het
Kcnh3	A	T	15: 99,139,873 (GRCm39)	I920F	probably benign	Het
Lrp2	G	A	2: 69,341,328 (GRCm39)	R951C	probably damaging	Het
Msi1	A	G	5: 115,573,580 (GRCm39)	K126R	possibly damaging	Het
Nkx2-6	T	A	14: 69,412,222 (GRCm39)	F130Y	probably damaging	Het
Onecut2	T	A	18: 64,474,160 (GRCm39)	L218Q	probably damaging	Het
Or12j4	G	T	7: 140,046,292 (GRCm39)	M59I	probably damaging	Het
Or5p6	T	C	7: 107,630,887 (GRCm39)	Y221C	probably damaging	Het
Or8j3	A	G	2: 86,028,149 (GRCm39)	*316Q	probably null	Het
Pah	T	A	10: 87,414,221 (GRCm39)		probably benign	Het
Per2	C	T	1: 91,358,583 (GRCm39)	E602K	probably damaging	Het
Plb1	C	T	5: 32,474,408 (GRCm39)	T623M	probably damaging	Het
Prkaa2	T	C	4: 104,909,109 (GRCm39)		probably null	Het
Prl7b1	T	A	13: 27,786,804 (GRCm39)	T142S	probably damaging	Het
Psd3	T	C	8: 68,173,544 (GRCm39)	H1090R	probably damaging	Het
Siglecf	G	T	7: 43,005,319 (GRCm39)		probably benign	Het
Tas2r118	A	G	6: 23,969,746 (GRCm39)	V105A	probably damaging	Het
Thnsl1	T	C	2: 21,217,011 (GRCm39)	V255A	probably benign	Het
Tmprss5	T	A	9: 49,020,757 (GRCm39)	*84K	probably null	Het
Trrap	C	T	5: 144,767,779 (GRCm39)	L2579F	possibly damaging	Het
Vdac1	A	G	11: 52,276,489 (GRCm39)	T211A	probably benign	Het
Vmn1r16	A	T	6: 57,299,716 (GRCm39)	V302D	possibly damaging	Het
Wdr75	T	A	1: 45,857,420 (GRCm39)	C572*	probably null	Het
Xpc	A	G	6: 91,476,993 (GRCm39)	S369P	probably benign	Het
Zfp977	T	C	7: 42,230,090 (GRCm39)	Y145C	probably damaging	Het

Other mutations in Zdhhc20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Zdhhc20	APN	14	58,111,381 (GRCm39)	missense	probably damaging	0.99
IGL00983:Zdhhc20	APN	14	58,076,613 (GRCm39)	missense	possibly damaging	0.62
IGL01107:Zdhhc20	APN	14	58,103,046 (GRCm39)	missense	probably damaging	1.00
IGL02572:Zdhhc20	APN	14	58,127,564 (GRCm39)	missense	probably benign	0.20
IGL02748:Zdhhc20	APN	14	58,096,010 (GRCm39)	missense	probably benign	0.08
IGL03406:Zdhhc20	APN	14	58,076,556 (GRCm39)	missense	probably benign
R0314:Zdhhc20	UTSW	14	58,094,076 (GRCm39)	missense	probably damaging	1.00
R0631:Zdhhc20	UTSW	14	58,095,097 (GRCm39)	missense	probably damaging	0.99
R1144:Zdhhc20	UTSW	14	58,094,135 (GRCm39)	missense	probably benign	0.07
R1703:Zdhhc20	UTSW	14	58,076,545 (GRCm39)	critical splice donor site	probably null
R1815:Zdhhc20	UTSW	14	58,127,600 (GRCm39)	missense	probably benign	0.10
R1816:Zdhhc20	UTSW	14	58,127,600 (GRCm39)	missense	probably benign	0.10
R6219:Zdhhc20	UTSW	14	58,078,340 (GRCm39)	missense	probably damaging	0.99
R6488:Zdhhc20	UTSW	14	58,078,289 (GRCm39)	missense	probably benign	0.00
R6650:Zdhhc20	UTSW	14	58,096,032 (GRCm39)	missense	probably damaging	1.00
R6790:Zdhhc20	UTSW	14	58,127,600 (GRCm39)	missense	probably benign	0.00
R7196:Zdhhc20	UTSW	14	58,111,348 (GRCm39)	critical splice donor site	probably null
R7365:Zdhhc20	UTSW	14	58,111,377 (GRCm39)	missense	possibly damaging	0.95
R8126:Zdhhc20	UTSW	14	58,084,402 (GRCm39)	missense	probably damaging	1.00
R8832:Zdhhc20	UTSW	14	58,103,089 (GRCm39)	missense	probably benign	0.05
R8832:Zdhhc20	UTSW	14	58,080,721 (GRCm39)	missense	possibly damaging	0.86
R8885:Zdhhc20	UTSW	14	58,127,671 (GRCm39)	start gained	probably benign
Z1176:Zdhhc20	UTSW	14	58,076,562 (GRCm39)	nonsense	probably null

Posted On

2013-10-07