Mutagenetix > Incidental Mutation

Incidental Mutation 'R2143:Zdhhc6'

236569

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc6

Ensembl Gene

ENSMUSG00000024982

Gene Name

zinc finger, DHHC domain containing 6

Synonyms

5930409M18Rik

MMRRC Submission

040146-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2143 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55286648-55304468 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55287228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 411 (K411E)

Ref Sequence

ENSEMBL: ENSMUSP00000153404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043150] [ENSMUST00000076891] [ENSMUST00000223807] [ENSMUST00000224291] [ENSMUST00000224897] [ENSMUST00000226103] [ENSMUST00000225495] [ENSMUST00000225963]

AlphaFold

Q9CPV7

Predicted Effect

probably benign
Transcript: ENSMUST00000043150

SMART Domains

Protein: ENSMUSP00000046585
Gene: ENSMUSG00000024981

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:AMP-binding	82	548	2.7e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076891
AA Change: K411E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076157
Gene: ENSMUSG00000024982
AA Change: K411E

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

noncoding transcript
Transcript: ENSMUST00000223743

Predicted Effect

probably benign
Transcript: ENSMUST00000223807

Predicted Effect

probably benign
Transcript: ENSMUST00000224291

Predicted Effect

probably benign
Transcript: ENSMUST00000224414

Predicted Effect

probably benign
Transcript: ENSMUST00000224897
AA Change: K411E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000226103
AA Change: K411E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225032

Predicted Effect

probably benign
Transcript: ENSMUST00000225963

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	C	16: 88,556,053 (GRCm39)	S89T	probably benign	Het
4930522L14Rik	C	G	5: 109,884,616 (GRCm39)	C414S	probably damaging	Het
4930553M12Rik	G	A	4: 88,786,411 (GRCm39)	T69I	unknown	Het
4930553M12Rik	T	A	4: 88,786,412 (GRCm39)	T69S	unknown	Het
Apobr	G	A	7: 126,186,288 (GRCm39)	E600K	probably benign	Het
Armc8	C	A	9: 99,387,361 (GRCm39)	R419L	probably damaging	Het
Ash1l	T	A	3: 88,892,726 (GRCm39)	M1535K	probably benign	Het
Atf7ip2	A	G	16: 10,058,509 (GRCm39)	E316G	probably null	Het
Atp2a1	G	A	7: 126,047,897 (GRCm39)	R638*	probably null	Het
Atp8b4	A	T	2: 126,216,430 (GRCm39)	I672N	probably damaging	Het
Atrn	T	C	2: 130,799,916 (GRCm39)	V431A	probably benign	Het
Babam1	T	C	8: 71,851,084 (GRCm39)	S116P	probably damaging	Het
Ccdc142	T	C	6: 83,079,203 (GRCm39)	L180P	probably damaging	Het
Cd52	T	C	4: 133,821,048 (GRCm39)		probably benign	Het
Cdk17	T	C	10: 93,053,881 (GRCm39)	L125P	probably damaging	Het
Ckap5	A	G	2: 91,396,090 (GRCm39)	D531G	probably benign	Het
Cntn5	G	T	9: 9,748,420 (GRCm39)	P487Q	probably damaging	Het
Crispld1	C	T	1: 17,819,860 (GRCm39)	T286I	probably benign	Het
Crtap	T	C	9: 114,209,036 (GRCm39)	Y336C	probably damaging	Het
Ctu2	T	A	8: 123,205,891 (GRCm39)	I213K	probably benign	Het
Dmac2l	A	G	12: 69,787,828 (GRCm39)	Q88R	probably damaging	Het
Dsc3	A	G	18: 20,113,743 (GRCm39)	F393S	possibly damaging	Het
Dsg2	T	A	18: 20,712,218 (GRCm39)	I118N	probably damaging	Het
Dstyk	T	A	1: 132,391,113 (GRCm39)	M838K	probably damaging	Het
Elmo3	T	C	8: 106,035,305 (GRCm39)	V450A	probably damaging	Het
Eml5	A	C	12: 98,776,864 (GRCm39)	F1417C	probably damaging	Het
Enam	T	A	5: 88,640,779 (GRCm39)	M147K	probably benign	Het
Entpd1	T	C	19: 40,725,227 (GRCm39)	Y409H	probably damaging	Het
Extl1	C	A	4: 134,098,355 (GRCm39)	E225D	probably benign	Het
Fbn2	A	G	18: 58,186,065 (GRCm39)	V1761A	possibly damaging	Het
Fsip2	A	T	2: 82,820,615 (GRCm39)	L5449F	possibly damaging	Het
Gabra5	G	A	7: 57,138,763 (GRCm39)	T95I	probably damaging	Het
Gal3st2c	C	T	1: 93,937,173 (GRCm39)	Q373*	probably null	Het
Gbp5	A	C	3: 142,209,593 (GRCm39)	T180P	probably damaging	Het
Glb1	T	C	9: 114,266,892 (GRCm39)	L212P	probably damaging	Het
Gm11596	A	T	11: 99,683,789 (GRCm39)	C110*	probably null	Het
Gpat2	T	C	2: 127,275,682 (GRCm39)	F487L	probably damaging	Het
Hsph1	A	T	5: 149,554,951 (GRCm39)	H110Q	probably damaging	Het
Ikbke	C	A	1: 131,201,211 (GRCm39)	V176L	probably damaging	Het
Ildr2	T	C	1: 166,096,895 (GRCm39)	V38A	probably damaging	Het
Inpp4a	G	T	1: 37,426,827 (GRCm39)	C326F	probably damaging	Het
Irak2	T	A	6: 113,649,788 (GRCm39)	V141D	probably benign	Het
Jade1	G	A	3: 41,559,143 (GRCm39)	R408Q	probably benign	Het
Jmjd7	C	A	2: 119,860,601 (GRCm39)		probably null	Het
Kdm7a	C	T	6: 39,145,884 (GRCm39)	V348I	possibly damaging	Het
Kif20a	A	G	18: 34,758,657 (GRCm39)	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,305,861 (GRCm39)	M37L	probably benign	Het
Krt5	A	G	15: 101,620,794 (GRCm39)	I151T	probably damaging	Het
Krtap1-5	T	C	11: 99,471,644 (GRCm39)	I50V	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lrrc71	C	T	3: 87,652,828 (GRCm39)	W148*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1a	T	A	2: 121,132,426 (GRCm39)	S843T	probably damaging	Het
Map1s	T	A	8: 71,363,608 (GRCm39)	D48E	probably damaging	Het
Mast4	A	G	13: 102,871,983 (GRCm39)	F2462L	possibly damaging	Het
Mettl21e	T	A	1: 44,249,398 (GRCm39)	Y86F	probably benign	Het
Myh6	A	T	14: 55,190,411 (GRCm39)	D1035E	probably damaging	Het
Naip6	C	T	13: 100,436,367 (GRCm39)	D719N	probably damaging	Het
Nat8f2	T	G	6: 85,845,239 (GRCm39)	H41P	probably benign	Het
Ncam1	T	A	9: 49,454,319 (GRCm39)	Q597L	possibly damaging	Het
Nek1	T	A	8: 61,481,730 (GRCm39)	I215K	probably damaging	Het
Nol11	A	T	11: 107,071,881 (GRCm39)	S237R	probably benign	Het
Npr2	T	C	4: 43,648,166 (GRCm39)	F870S	probably damaging	Het
Nsd1	T	C	13: 55,408,210 (GRCm39)	Y1285H	probably damaging	Het
Nup93	C	T	8: 95,023,108 (GRCm39)	Q229*	probably null	Het
Or4a15	C	T	2: 89,193,447 (GRCm39)	E109K	probably damaging	Het
Or7g12	G	A	9: 18,900,099 (GRCm39)	A272T	probably benign	Het
Pappa	T	A	4: 65,099,186 (GRCm39)	Y568*	probably null	Het
Parva	A	G	7: 112,159,274 (GRCm39)	D180G	possibly damaging	Het
Pask	C	T	1: 93,249,019 (GRCm39)	A794T	probably benign	Het
Pax1	T	A	2: 147,207,802 (GRCm39)	C225S	probably damaging	Het
Pde4dip	T	A	3: 97,795,835 (GRCm39)	E51V	possibly damaging	Het
Pde6c	A	T	19: 38,150,777 (GRCm39)	H562L	probably damaging	Het
Pet100	T	G	8: 3,672,355 (GRCm39)	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,626,460 (GRCm39)	T438A	probably benign	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Polr2d	T	A	18: 31,929,132 (GRCm39)	L127Q	probably damaging	Het
Prkd1	A	G	12: 50,536,694 (GRCm39)	V130A	possibly damaging	Het
Psd3	T	C	8: 68,417,003 (GRCm39)	D45G	probably damaging	Het
Ptpn13	A	G	5: 103,703,999 (GRCm39)	T1344A	probably benign	Het
Ptpn6	T	A	6: 124,701,947 (GRCm39)	H406L	probably benign	Het
Ric1	A	T	19: 29,510,652 (GRCm39)	S78C	probably damaging	Het
Ric1	G	A	19: 29,510,653 (GRCm39)	S78N	probably damaging	Het
Scgb1b2	G	T	7: 30,991,188 (GRCm39)		probably benign	Het
Senp7	A	G	16: 55,990,169 (GRCm39)	H639R	probably benign	Het
Sgtb	A	T	13: 104,260,767 (GRCm39)	D72V	probably damaging	Het
Slc44a5	T	C	3: 153,964,086 (GRCm39)	M484T	probably benign	Het
Slc5a1	A	G	5: 33,318,140 (GRCm39)	K598E	probably benign	Het
Slit3	T	A	11: 35,503,088 (GRCm39)		probably null	Het
Smc1b	T	C	15: 85,008,003 (GRCm39)	H258R	probably benign	Het
Smu1	T	C	4: 40,744,073 (GRCm39)	D318G	probably damaging	Het
Sned1	T	A	1: 93,199,406 (GRCm39)	F495L	probably damaging	Het
Svs3a	C	A	2: 164,131,804 (GRCm39)	S124Y	probably damaging	Het
Syngr4	A	G	7: 45,536,464 (GRCm39)	V186A	probably benign	Het
Tars3	G	A	7: 65,305,539 (GRCm39)	M254I	possibly damaging	Het
Tdpoz1	T	A	3: 93,578,143 (GRCm39)	R214*	probably null	Het
Tm2d3	A	G	7: 65,344,987 (GRCm39)	D54G	probably damaging	Het
Trim66	A	T	7: 109,074,320 (GRCm39)	I647N	probably damaging	Het
Triml2	T	A	8: 43,646,548 (GRCm39)	W346R	probably damaging	Het
Trp53bp1	A	T	2: 121,046,545 (GRCm39)	V1085D	probably benign	Het
Trpv2	T	C	11: 62,483,612 (GRCm39)	V483A	probably benign	Het
Ugp2	G	T	11: 21,278,949 (GRCm39)	N412K	probably benign	Het
Upf1	T	C	8: 70,792,004 (GRCm39)	D418G	probably null	Het
Vmn2r77	C	A	7: 86,461,152 (GRCm39)	P826Q	probably damaging	Het
Vrtn	T	C	12: 84,696,936 (GRCm39)	M562T	probably benign	Het
Wdr55	A	G	18: 36,895,419 (GRCm39)	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,787,040 (GRCm39)	R356S	possibly damaging	Het
Zfp260	A	G	7: 29,804,765 (GRCm39)	K222E	probably damaging	Het
Zfp280d	A	G	9: 72,220,011 (GRCm39)	N237S	probably damaging	Het
Zfp445	T	G	9: 122,682,547 (GRCm39)	S465R	possibly damaging	Het
Zfp821	A	G	8: 110,450,979 (GRCm39)	D324G	probably damaging	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
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
R7266:Zdhhc6	UTSW	19	55,292,932 (GRCm39)	missense	probably damaging	1.00
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'- AGAATGGCTTCTGTTTCAAAACGG -3'
(R):5'- TGTCTGAGAGCTACTGAGGG -3'

Sequencing Primer
(F):5'- GCTTCTGTTTCAAAACGGTAATAAAC -3'
(R):5'- GCAGGAAGTCTTAACAACTAATCTTC -3'

Posted On

2014-10-01