Mutagenetix > Incidental Mutation

Incidental Mutation 'R7266:Zdhhc6'

564966

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc6

Ensembl Gene

ENSMUSG00000024982

Gene Name

zinc finger, DHHC domain containing 6

Synonyms

5930409M18Rik

MMRRC Submission

045389-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55286648-55304468 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55292932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 271 (N271K)

Ref Sequence

ENSEMBL: ENSMUSP00000076157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076891] [ENSMUST00000223807] [ENSMUST00000224291] [ENSMUST00000224897] [ENSMUST00000225495] [ENSMUST00000225963] [ENSMUST00000226103]

AlphaFold

Q9CPV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076891
AA Change: N271K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076157
Gene: ENSMUSG00000024982
AA Change: N271K

Domain	Start	End	E-Value	Type
transmembrane domain	19	41	N/A	INTRINSIC
transmembrane domain	51	73	N/A	INTRINSIC
Pfam:zf-DHHC	94	244	3.2e-38	PFAM
SH3	316	397	5.84e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000223807

Predicted Effect

probably damaging
Transcript: ENSMUST00000224291
AA Change: N271K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224897
AA Change: N271K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225495
AA Change: N271K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225963
AA Change: N271K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226103
AA Change: N271K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,157,639 (GRCm39)	I104F	probably benign	Het
Adgrg7	C	T	16: 56,590,674 (GRCm39)	V166I	probably benign	Het
Agfg1	G	T	1: 82,859,966 (GRCm39)	V278L	probably benign	Het
Alpk3	A	G	7: 80,742,328 (GRCm39)	E715G	possibly damaging	Het
Ap2m1	A	G	16: 20,362,095 (GRCm39)	Y401C	probably damaging	Het
Arhgef28	C	T	13: 98,101,960 (GRCm39)	S838N	probably benign	Het
Ash2l	A	T	8: 26,317,233 (GRCm39)	Y373*	probably null	Het
Best2	C	T	8: 85,734,393 (GRCm39)	V442I	probably benign	Het
Col4a2	T	C	8: 11,475,542 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,175,856 (GRCm39)	D1619V	probably damaging	Het
Fer1l6	A	T	15: 58,499,446 (GRCm39)	N1272I	probably benign	Het
Gcc1	T	A	6: 28,417,995 (GRCm39)	*779C	probably null	Het
Gm12216	G	A	11: 53,750,077 (GRCm39)		probably benign	Het
Grm2	C	T	9: 106,524,370 (GRCm39)	V311I		Het
Immt	T	A	6: 71,851,689 (GRCm39)	D683E	probably benign	Het
Itga8	T	G	2: 12,237,712 (GRCm39)	D336A	probably damaging	Het
Jhy	T	C	9: 40,872,453 (GRCm39)	T19A	probably benign	Het
Kcnq2	T	C	2: 180,776,885 (GRCm39)	M1V	probably null	Het
Kctd17	A	T	15: 78,317,214 (GRCm39)	I117F	probably damaging	Het
Lrp6	T	C	6: 134,484,364 (GRCm39)	T420A	probably damaging	Het
Manba	T	C	3: 135,223,673 (GRCm39)	S187P	probably damaging	Het
Mef2b	A	T	8: 70,616,938 (GRCm39)	D13V	probably damaging	Het
Mical2	T	C	7: 111,902,963 (GRCm39)	F145L	probably damaging	Het
Mphosph8	T	A	14: 56,922,497 (GRCm39)	D551E	possibly damaging	Het
Mplkipl1	A	G	19: 61,163,973 (GRCm39)	V154A	possibly damaging	Het
Myo10	C	G	15: 25,783,067 (GRCm39)	R1170G	probably damaging	Het
Myo16	A	C	8: 10,322,687 (GRCm39)	Q39P	unknown	Het
Myo1f	A	G	17: 33,820,668 (GRCm39)	E837G	probably benign	Het
Nell2	T	A	15: 95,333,274 (GRCm39)	I128F	possibly damaging	Het
Or1i2	A	G	10: 78,448,448 (GRCm39)	V9A	probably benign	Het
Pcdh15	A	T	10: 74,215,222 (GRCm39)	R659*	probably null	Het
Pcdhga1	A	G	18: 37,973,028 (GRCm39)	Q881R	possibly damaging	Het
Plekhm2	T	G	4: 141,369,770 (GRCm39)	E75A	possibly damaging	Het
Prc1	A	G	7: 79,957,405 (GRCm39)	K357E	possibly damaging	Het
Pxk	T	A	14: 8,146,220 (GRCm38)	C377S	probably benign	Het
Ralgapa2	T	C	2: 146,176,488 (GRCm39)	E1696G	probably damaging	Het
Rbbp6	T	A	7: 122,600,590 (GRCm39)	S1532R	unknown	Het
Scn5a	G	T	9: 119,391,626 (GRCm39)	A22E	probably benign	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Siae	T	C	9: 37,534,309 (GRCm39)	V115A	probably damaging	Het
Slc16a6	A	G	11: 109,344,107 (GRCm39)	C563R	probably benign	Het
Sntg1	A	C	1: 8,752,243 (GRCm39)	V58G	possibly damaging	Het
Snx11	C	T	11: 96,663,985 (GRCm39)	V36M	probably damaging	Het
Stk3	C	A	15: 34,959,182 (GRCm39)	S330I	probably benign	Het
Synpo	A	G	18: 60,762,631 (GRCm39)	F92S	probably benign	Het
Tle1	A	G	4: 72,057,924 (GRCm39)		probably null	Het
Tmem117	A	G	15: 94,829,684 (GRCm39)	D173G	possibly damaging	Het
Tmem217b	C	A	17: 29,738,347 (GRCm39)	V140L	probably benign	Het
Tmprss5	T	C	9: 49,025,841 (GRCm39)	W338R	probably benign	Het
Tnfrsf19	T	C	14: 61,212,147 (GRCm39)	T168A	possibly damaging	Het
Trhde	C	T	10: 114,636,776 (GRCm39)	G144S	possibly damaging	Het
Trim56	G	T	5: 137,143,097 (GRCm39)	Q140K	probably damaging	Het
Ttn	C	T	2: 76,562,918 (GRCm39)	V28679M	probably damaging	Het
Ubxn8	G	A	8: 34,113,231 (GRCm39)	R208C	probably damaging	Het
Vmn2r72	G	T	7: 85,387,482 (GRCm39)	S694*	probably null	Het
Wdr38	T	A	2: 38,890,276 (GRCm39)	W137R	probably damaging	Het
Zfyve9	A	G	4: 108,575,744 (GRCm39)	S446P	possibly damaging	Het
Zmynd8	T	C	2: 165,649,492 (GRCm39)	Q867R	possibly damaging	Het
Zswim3	T	C	2: 164,662,402 (GRCm39)	I294T	probably benign	Het

Other mutations in Zdhhc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Zdhhc6	APN	19	55,298,324 (GRCm39)	missense	probably benign	0.19
IGL01419:Zdhhc6	APN	19	55,298,186 (GRCm39)	missense	probably benign	0.09
IGL02598:Zdhhc6	APN	19	55,302,959 (GRCm39)	missense	probably benign	0.31
Chalcogenide	UTSW	19	55,300,133 (GRCm39)	missense	probably damaging	1.00
pegmatite	UTSW	19	55,292,871 (GRCm39)	nonsense	probably null
telluride	UTSW	19	55,302,998 (GRCm39)	start codon destroyed	probably null	1.00
R0267:Zdhhc6	UTSW	19	55,297,362 (GRCm39)	missense	probably benign	0.17
R0920:Zdhhc6	UTSW	19	55,300,133 (GRCm39)	missense	probably damaging	1.00
R2143:Zdhhc6	UTSW	19	55,287,228 (GRCm39)	missense	probably benign
R4445:Zdhhc6	UTSW	19	55,291,169 (GRCm39)	missense	probably benign	0.31
R4446:Zdhhc6	UTSW	19	55,291,169 (GRCm39)	missense	probably benign	0.31
R4632:Zdhhc6	UTSW	19	55,302,741 (GRCm39)	missense	probably damaging	1.00
R4921:Zdhhc6	UTSW	19	55,301,642 (GRCm39)	missense	probably damaging	0.96
R5144:Zdhhc6	UTSW	19	55,302,998 (GRCm39)	start codon destroyed	probably null	1.00
R7067:Zdhhc6	UTSW	19	55,292,871 (GRCm39)	nonsense	probably null
R7307:Zdhhc6	UTSW	19	55,301,682 (GRCm39)	missense	probably damaging	1.00
R7326:Zdhhc6	UTSW	19	55,291,187 (GRCm39)	missense	possibly damaging	0.88
R8425:Zdhhc6	UTSW	19	55,302,876 (GRCm39)	missense	probably benign	0.01
R8889:Zdhhc6	UTSW	19	55,290,987 (GRCm39)	splice site	probably benign
R8892:Zdhhc6	UTSW	19	55,290,987 (GRCm39)	splice site	probably benign
R8962:Zdhhc6	UTSW	19	55,287,239 (GRCm39)	missense	probably benign
R9015:Zdhhc6	UTSW	19	55,287,318 (GRCm39)	missense	probably benign
R9128:Zdhhc6	UTSW	19	55,301,680 (GRCm39)	nonsense	probably null
R9785:Zdhhc6	UTSW	19	55,300,203 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTCTCGGGAAGTTGTGGG -3'
(R):5'- GCTCTGGGATATCACAAACAAGG -3'

Sequencing Primer
(F):5'- TTGTGGGCATTAACAAGGTAACCAC -3'
(R):5'- TCTGACAACACTCCTATTAGCC -3'

Posted On

2019-06-26