Mutagenetix > Incidental Mutation

Incidental Mutation 'R0314:Zdhhc20'

65251

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc20

Ensembl Gene

ENSMUSG00000021969

Gene Name

zinc finger, DHHC domain containing 20

Synonyms

5033406L14Rik, 4930542A17Rik, ENSMUSG00000055956, B230110O18Rik

MMRRC Submission

038524-MU

Accession Numbers

Essential gene?

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

Stock #

R0314 (G1)

Quality Score

122

Status

Validated

Chromosome

Chromosomal Location

58070160-58127733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58094076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 195 (K195N)

Ref Sequence

ENSEMBL: ENSMUSP00000153568 (fasta)

Gene Model

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

AlphaFold

Q5Y5T1

Predicted Effect

probably damaging
Transcript: ENSMUST00000089473
AA Change: K195N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086900
Gene: ENSMUSG00000021969
AA Change: K195N

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

probably damaging
Transcript: ENSMUST00000226057
AA Change: K195N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.1404

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.9%
20x: 88.7%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arih2	T	C	9: 108,485,878 (GRCm39)	N345D	probably damaging	Het
Ascc3	C	T	10: 50,514,095 (GRCm39)	S298L	possibly damaging	Het
Cacna1e	A	G	1: 154,317,997 (GRCm39)	Y1462H	probably damaging	Het
Car9	T	C	4: 43,509,212 (GRCm39)		probably null	Het
Cenpc1	A	T	5: 86,185,230 (GRCm39)	M427K	probably benign	Het
Chl1	T	A	6: 103,624,262 (GRCm39)	C57S	probably damaging	Het
Cntn3	T	C	6: 102,397,342 (GRCm39)	Y77C	probably damaging	Het
Cobll1	T	C	2: 64,919,865 (GRCm39)	K1187E	possibly damaging	Het
Fkbpl	C	T	17: 34,865,026 (GRCm39)	H265Y	possibly damaging	Het
Fmo1	T	G	1: 162,687,031 (GRCm39)	E32A	probably damaging	Het
Fnip2	G	A	3: 79,388,496 (GRCm39)	T715I	probably damaging	Het
Fzd6	T	A	15: 38,889,128 (GRCm39)	I82K	possibly damaging	Het
Grm5	T	C	7: 87,252,163 (GRCm39)	S138P	probably damaging	Het
Klra5	T	C	6: 129,880,553 (GRCm39)	Y115C	probably damaging	Het
Lgr4	T	C	2: 109,821,438 (GRCm39)		probably benign	Het
Limd1	T	G	9: 123,345,892 (GRCm39)	I557S	probably benign	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Neb	A	T	2: 52,133,343 (GRCm39)	D3398E	probably benign	Het
Nup155	T	C	15: 8,176,736 (GRCm39)	S1005P	probably benign	Het
Or2v2	A	T	11: 49,004,519 (GRCm39)	D11E	possibly damaging	Het
Or52a5b	T	C	7: 103,417,388 (GRCm39)	D72G	probably damaging	Het
Pebp4	G	T	14: 70,297,103 (GRCm39)	S214I	possibly damaging	Het
Pex26	T	C	6: 121,161,443 (GRCm39)		probably null	Het
Rbbp8	A	T	18: 11,848,875 (GRCm39)	Q230L	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo2	G	A	16: 73,753,525 (GRCm39)	T784M	probably damaging	Het
Slc5a1	T	C	5: 33,303,995 (GRCm39)	I270T	probably benign	Het
Spag4	C	T	2: 155,909,229 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,660,841 (GRCm39)		probably benign	Het
Svep1	C	T	4: 58,096,331 (GRCm39)	E1430K	possibly damaging	Het
Timd5	G	A	11: 46,419,364 (GRCm39)	C60Y	probably damaging	Het
Uba6	A	T	5: 86,265,946 (GRCm39)	V956E	probably damaging	Het
Ube2j1	T	A	4: 33,043,991 (GRCm39)		probably benign	Het
Ubr5	A	G	15: 37,997,431 (GRCm39)	S1741P	probably damaging	Het
Vmn2r1	A	G	3: 63,993,980 (GRCm39)	T109A	probably damaging	Het
Vmn2r60	T	C	7: 41,784,985 (GRCm39)		probably benign	Het
Vstm2a	A	G	11: 16,318,388 (GRCm39)		probably benign	Het
Zfp683	A	G	4: 133,786,052 (GRCm39)	Y393C	probably benign	Het
Zzz3	T	C	3: 152,133,085 (GRCm39)	S48P	probably benign	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
IGL01350:Zdhhc20	APN	14	58,111,444 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCAATCTGCATCACAGAGACAC -3'
(R):5'- CAAGCCTGAGACCACATTTGCATTC -3'

Sequencing Primer
(F):5'- GCATCACAGAGACACCTGTAGTC -3'
(R):5'- GAGACCACATTTGCATTCTGATTC -3'

Posted On

2013-08-08