Mutagenetix > Incidental Mutation

Incidental Mutation 'R4905:Zdhhc1'

378107

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc1

Ensembl Gene

ENSMUSG00000039199

Gene Name

zinc finger, DHHC domain containing 1

Synonyms

4432412D04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106199055-106223534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106210326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 30 (E30D)

Ref Sequence

ENSEMBL: ENSMUSP00000148381 (fasta)

Gene Model

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

AlphaFold

Q8R0N9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044286
AA Change: E30D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036471
Gene: ENSMUSG00000039199
AA Change: E30D

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 damaging
Transcript: ENSMUST00000212303
AA Change: E30D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212538

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,448,680 (GRCm39)		probably null	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc5	A	G	16: 20,218,678 (GRCm39)	S235P	probably damaging	Het
Abcc6	T	C	7: 45,644,649 (GRCm39)	N842S	probably benign	Het
Acbd6	G	A	1: 155,500,669 (GRCm39)	V210I	probably benign	Het
Ahctf1	A	T	1: 179,576,192 (GRCm39)	V2130D	probably damaging	Het
Akap5	A	G	12: 76,375,207 (GRCm39)	E213G	probably damaging	Het
Alyref	T	G	11: 120,486,879 (GRCm39)		probably null	Het
Anapc5	G	T	5: 122,955,973 (GRCm39)	N152K	probably benign	Het
Atp8b2	A	T	3: 89,856,315 (GRCm39)	D416E	probably benign	Het
AW551984	A	T	9: 39,508,454 (GRCm39)	V354E	probably damaging	Het
Bag6	A	G	17: 35,364,162 (GRCm39)	E844G	probably damaging	Het
Bmp1	C	T	14: 70,728,802 (GRCm39)	R590H	probably benign	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Col6a6	A	G	9: 105,644,623 (GRCm39)	S1222P	probably damaging	Het
Dhfr	G	A	13: 92,502,282 (GRCm39)	G118S	probably damaging	Het
Dnah9	G	A	11: 65,764,950 (GRCm39)	R1414*	probably null	Het
Dnai1	A	G	4: 41,614,269 (GRCm39)	D315G	probably benign	Het
Eogt	T	C	6: 97,119,792 (GRCm39)	R139G	probably benign	Het
Fcgbpl1	A	T	7: 27,856,408 (GRCm39)	K2065M	possibly damaging	Het
Fh1	C	T	1: 175,446,639 (GRCm39)	G79E	probably damaging	Het
Gabrg3	A	G	7: 56,374,304 (GRCm39)	Y421H	probably damaging	Het
Glipr1	C	A	10: 111,821,545 (GRCm39)	R219L	probably damaging	Het
Gm1123	T	C	9: 98,891,369 (GRCm39)	D360G	probably benign	Het
Ift81	C	T	5: 122,729,142 (GRCm39)		probably null	Het
Itsn2	A	G	12: 4,684,583 (GRCm39)		probably benign	Het
Kri1	A	T	9: 21,198,998 (GRCm39)	H55Q	probably benign	Het
Mcidas	C	T	13: 113,134,038 (GRCm39)	T174M	possibly damaging	Het
Mcidas	C	A	13: 113,130,951 (GRCm39)	A92E	possibly damaging	Het
Mmp25	C	A	17: 23,863,022 (GRCm39)	G130*	probably null	Het
Myh11	G	A	16: 14,068,387 (GRCm39)	T211M	probably benign	Het
Myo10	A	G	15: 25,800,298 (GRCm39)	D1458G	probably damaging	Het
Ncf4	A	G	15: 78,139,104 (GRCm39)	T154A	probably damaging	Het
Nfatc4	T	C	14: 56,068,039 (GRCm39)	I620T	probably benign	Het
Nos3	A	T	5: 24,572,329 (GRCm39)	Y134F	probably benign	Het
Nup50l	T	A	6: 96,142,911 (GRCm39)	R44S	possibly damaging	Het
Or13c3	T	C	4: 52,855,613 (GRCm39)	N300S	probably damaging	Het
Or51a6	A	T	7: 102,604,721 (GRCm39)	I36N	probably damaging	Het
Or5b106	C	A	19: 13,123,541 (GRCm39)	A161S	probably benign	Het
Or6c209	T	A	10: 129,483,792 (GRCm39)	V265E	possibly damaging	Het
Pax9	G	T	12: 56,743,411 (GRCm39)	R19S	probably damaging	Het
Pcdha9	T	C	18: 37,131,945 (GRCm39)	I338T	probably damaging	Het
Plxnb2	G	T	15: 89,041,614 (GRCm39)	T1730K	probably damaging	Het
Rac1	A	G	5: 143,502,907 (GRCm39)		probably null	Het
Samsn1	G	T	16: 75,673,353 (GRCm39)	F174L	possibly damaging	Het
Scaf1	G	A	7: 44,662,129 (GRCm39)	T86M	probably damaging	Het
Smc1b	A	G	15: 84,950,428 (GRCm39)	Y1199H	probably damaging	Het
Svep1	A	G	4: 58,069,308 (GRCm39)	I2826T	probably benign	Het
Tex36	A	G	7: 133,189,182 (GRCm39)	V130A	probably damaging	Het
Tigd5	A	G	15: 75,783,252 (GRCm39)	H538R	probably damaging	Het
Tlr3	C	A	8: 45,852,260 (GRCm39)		probably null	Het
Tubb2b	A	T	13: 34,312,187 (GRCm39)	I202N	probably damaging	Het
Unc13c	A	G	9: 73,587,674 (GRCm39)	V1453A	probably benign	Het
Unc5c	A	T	3: 141,507,071 (GRCm39)	T608S	probably benign	Het
Vrk1	C	A	12: 106,018,087 (GRCm39)	H119N	probably damaging	Het
Wdr53	T	A	16: 32,075,476 (GRCm39)	M227K	probably benign	Het
Xpo4	T	C	14: 57,875,746 (GRCm39)	D129G	possibly damaging	Het
Zcchc4	T	C	5: 52,953,992 (GRCm39)	I224T	probably damaging	Het
Zscan29	C	G	2: 120,991,864 (GRCm39)	R540T	possibly damaging	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
R4953:Zdhhc1	UTSW	8	106,210,376 (GRCm39)	frame shift	probably null
R5128:Zdhhc1	UTSW	8	106,210,268 (GRCm39)	missense	probably benign	0.02
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'- TTTCCAGTCCCATATATTCCAAGG -3'
(R):5'- TGTAGCCAGGCCCCTGTG -3'

Posted On

2016-04-15