Mutagenetix > Incidental Mutation

Incidental Mutation 'R5128:Zdhhc1'

394863

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc1

Ensembl Gene

ENSMUSG00000039199

Gene Name

zinc finger, DHHC domain containing 1

Synonyms

4432412D04Rik

MMRRC Submission

042716-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5128 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106199055-106223534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106210268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 50 (I50F)

Ref Sequence

ENSEMBL: ENSMUSP00000148381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044286] [ENSMUST00000212303]

AlphaFold

Q8R0N9

Predicted Effect

probably benign
Transcript: ENSMUST00000044286
AA Change: I50F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000036471
Gene: ENSMUSG00000039199
AA Change: I50F

Domain	Start	End	E-Value	Type
transmembrane domain	49	71	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC
Pfam:zf-DHHC	126	282	2.5e-38	PFAM
low complexity region	359	371	N/A	INTRINSIC
low complexity region	383	392	N/A	INTRINSIC
low complexity region	395	411	N/A	INTRINSIC
low complexity region	414	426	N/A	INTRINSIC
low complexity region	468	482	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212109

Predicted Effect

probably benign
Transcript: ENSMUST00000212303
AA Change: I50F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212538

Meta Mutation Damage Score

0.0854

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,639,070 (GRCm39)	S958P	probably benign	Het
Ahnak	T	C	19: 8,994,451 (GRCm39)	L5245P	probably damaging	Het
Alg5	T	A	3: 54,649,558 (GRCm39)		probably null	Het
Anapc1	A	G	2: 128,501,837 (GRCm39)	V735A	probably benign	Het
Arhgap45	A	G	10: 79,866,793 (GRCm39)	T1099A	probably benign	Het
Cacna1e	A	C	1: 154,277,767 (GRCm39)	S2062A	probably damaging	Het
Chrna9	A	G	5: 66,128,565 (GRCm39)	S258G	probably benign	Het
Ctcfl	T	C	2: 172,959,189 (GRCm39)	E179G	probably benign	Het
Dcdc2a	C	A	13: 25,286,512 (GRCm39)	A145E	probably damaging	Het
Dgkz	A	G	2: 91,773,028 (GRCm39)	I343T	probably damaging	Het
Dnah1	T	C	14: 31,018,152 (GRCm39)		probably null	Het
Dqx1	T	C	6: 83,037,548 (GRCm39)	L374P	probably damaging	Het
Entpd5	A	T	12: 84,441,464 (GRCm39)	F101L	probably benign	Het
Esco1	A	T	18: 10,567,468 (GRCm39)		probably benign	Het
Fgf1	C	A	18: 38,975,078 (GRCm39)	V124L	probably benign	Het
Gm16380	C	T	9: 53,791,397 (GRCm39)		noncoding transcript	Het
Grid2	G	A	6: 64,642,982 (GRCm39)	A915T	probably benign	Het
Inhbc	A	T	10: 127,193,611 (GRCm39)	M135K	probably benign	Het
Mertk	C	A	2: 128,580,167 (GRCm39)	T207K	probably damaging	Het
Mroh9	C	G	1: 162,888,329 (GRCm39)	G249R	probably damaging	Het
Mtmr10	C	T	7: 63,983,187 (GRCm39)	T498I	probably damaging	Het
Muc17	A	G	5: 137,167,034 (GRCm39)		probably null	Het
Nlrp1c-ps	G	T	11: 71,170,421 (GRCm39)		noncoding transcript	Het
Nphp4	T	A	4: 152,587,448 (GRCm39)	I267N	probably benign	Het
Obox8	A	G	7: 14,066,015 (GRCm39)	W168R	probably damaging	Het
Or2t48	A	T	11: 58,420,248 (GRCm39)	V188E	probably damaging	Het
Or4a74	A	T	2: 89,439,647 (GRCm39)	D266E	probably damaging	Het
Or8c8	T	C	9: 38,164,866 (GRCm39)	L48P	probably damaging	Het
Pafah1b1	A	G	11: 74,570,262 (GRCm39)		probably benign	Het
Palld	T	C	8: 62,173,622 (GRCm39)	T346A	probably damaging	Het
Pip4k2b	A	G	11: 97,609,702 (GRCm39)	S412P	probably benign	Het
Potefam1	G	A	2: 110,994,674 (GRCm39)	Q251*	probably null	Het
Scn3a	T	C	2: 65,338,862 (GRCm39)	S606G	probably benign	Het
Slc12a7	G	T	13: 73,953,552 (GRCm39)	S754I	probably benign	Het
Tep1	A	G	14: 51,081,736 (GRCm39)	*489R	probably null	Het
Tnn	A	T	1: 159,950,464 (GRCm39)	V714E	probably damaging	Het
Trappc9	A	T	15: 72,930,242 (GRCm39)	I38N	probably damaging	Het
Ttc16	T	A	2: 32,653,009 (GRCm39)	I550F	probably benign	Het
Vit	T	C	17: 78,932,575 (GRCm39)	S561P	probably damaging	Het
Zfp451	C	T	1: 33,842,014 (GRCm39)		probably benign	Het
Zfp597	G	A	16: 3,689,988 (GRCm39)		probably benign	Het

Other mutations in Zdhhc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Zdhhc1	APN	8	106,199,630 (GRCm39)	missense	probably benign
hacked	UTSW	8	106,210,376 (GRCm39)	frame shift	probably null
middleman	UTSW	8	106,210,279 (GRCm39)	missense	probably damaging	1.00
R0329:Zdhhc1	UTSW	8	106,210,175 (GRCm39)	missense	probably benign	0.04
R1898:Zdhhc1	UTSW	8	106,205,378 (GRCm39)	splice site	probably null
R2511:Zdhhc1	UTSW	8	106,210,190 (GRCm39)	missense	probably benign	0.16
R4734:Zdhhc1	UTSW	8	106,210,376 (GRCm39)	frame shift	probably null
R4741:Zdhhc1	UTSW	8	106,210,376 (GRCm39)	frame shift	probably null
R4795:Zdhhc1	UTSW	8	106,210,376 (GRCm39)	frame shift	probably null
R4818:Zdhhc1	UTSW	8	106,210,376 (GRCm39)	frame shift	probably null
R4819:Zdhhc1	UTSW	8	106,210,376 (GRCm39)	frame shift	probably null
R4822:Zdhhc1	UTSW	8	106,210,376 (GRCm39)	frame shift	probably null
R4871:Zdhhc1	UTSW	8	106,210,376 (GRCm39)	frame shift	probably null
R4891:Zdhhc1	UTSW	8	106,199,649 (GRCm39)	missense	probably benign	0.00
R4901:Zdhhc1	UTSW	8	106,199,484 (GRCm39)	missense	probably benign
R4905:Zdhhc1	UTSW	8	106,210,326 (GRCm39)	missense	probably damaging	0.98
R4953:Zdhhc1	UTSW	8	106,210,376 (GRCm39)	frame shift	probably null
R5274:Zdhhc1	UTSW	8	106,210,402 (GRCm39)	missense	probably benign	0.30
R5380:Zdhhc1	UTSW	8	106,210,376 (GRCm39)	frame shift	probably null
R5381:Zdhhc1	UTSW	8	106,210,376 (GRCm39)	frame shift	probably null
R6852:Zdhhc1	UTSW	8	106,203,704 (GRCm39)	missense	possibly damaging	0.70
R6962:Zdhhc1	UTSW	8	106,210,279 (GRCm39)	missense	probably damaging	1.00
R7990:Zdhhc1	UTSW	8	106,203,001 (GRCm39)	critical splice donor site	probably null
R8836:Zdhhc1	UTSW	8	106,200,173 (GRCm39)	missense	probably benign	0.43
R9047:Zdhhc1	UTSW	8	106,205,533 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACATGCACCCAGCTTCAG -3'
(R):5'- CCTGCTAAATCCTGGCTGTAGC -3'

Sequencing Primer
(F):5'- CAAGGATACAGCATAGCCA -3'
(R):5'- ATCGGACCTTTTTAGGCCTAATG -3'

Posted On

2016-06-21