Mutagenetix > Incidental Mutation

Incidental Mutation 'R5405:Zdhhc19'

428691

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc19

Ensembl Gene

ENSMUSG00000052363

Gene Name

zinc finger, DHHC domain containing 19

Synonyms

LOC245308

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5405 (G1)

Quality Score

146

Status

Not validated

Chromosome

Chromosomal Location

32315059-32326032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32325869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 240 (R240C)

Ref Sequence

ENSEMBL: ENSMUSP00000156284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064192] [ENSMUST00000231510]

AlphaFold

Q810M5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064192
AA Change: R336C

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000070727
Gene: ENSMUSG00000052363
AA Change: R336C

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
Pfam:zf-DHHC	107	230	2.5e-32	PFAM
low complexity region	291	306	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160832

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231510
AA Change: R240C

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,078,179 (GRCm39)	T298S	probably benign	Het
Atad2b	G	A	12: 4,990,098 (GRCm39)	R141Q	possibly damaging	Het
B3glct	A	G	5: 149,632,818 (GRCm39)	Q56R	probably damaging	Het
Cdc42bpa	A	G	1: 179,894,894 (GRCm39)	Y358C	probably damaging	Het
Cdc42bpa	A	G	1: 179,966,085 (GRCm39)	E1136G	possibly damaging	Het
Ceacam1	A	T	7: 25,163,290 (GRCm39)	N314K	probably benign	Het
Ces1g	A	T	8: 94,032,496 (GRCm39)	I488N	probably benign	Het
Chd6	C	T	2: 160,807,310 (GRCm39)	R1968K	probably benign	Het
Cyp27b1	C	T	10: 126,886,255 (GRCm39)	T312I	possibly damaging	Het
Cyp39a1	C	T	17: 43,987,831 (GRCm39)	A99V	probably damaging	Het
Dipk1a	C	T	5: 108,057,827 (GRCm39)	V199I	probably benign	Het
Dnaaf9	A	G	2: 130,554,380 (GRCm39)	S890P	probably damaging	Het
Efcab3	A	T	11: 104,612,018 (GRCm39)	D620V	probably benign	Het
Elapor1	A	T	3: 108,375,102 (GRCm39)	C588*	probably null	Het
Erc1	A	T	6: 119,801,905 (GRCm39)	S37R	probably damaging	Het
Gm10801	TC	TCGAC	2: 98,494,151 (GRCm39)		probably benign	Het
Gm14443	T	C	2: 175,013,644 (GRCm39)	I43V	possibly damaging	Het
Ins2	C	T	7: 142,233,134 (GRCm39)	R46H	probably damaging	Het
Krt77	T	C	15: 101,769,523 (GRCm39)	I413V	probably damaging	Het
Lpin3	A	G	2: 160,745,849 (GRCm39)	D660G	probably damaging	Het
Mpp3	T	C	11: 101,901,047 (GRCm39)	Q318R	probably benign	Het
Mpzl2	T	C	9: 44,958,503 (GRCm39)	S80P	probably damaging	Het
Mrpl2	T	C	17: 46,960,036 (GRCm39)		probably null	Het
Mrpl48	T	C	7: 100,209,000 (GRCm39)	Y108C	probably damaging	Het
Ndufaf7	C	A	17: 79,246,044 (GRCm39)	F92L	probably damaging	Het
Or14c43	T	C	7: 86,115,383 (GRCm39)	Y255H	probably damaging	Het
Or6c8	T	A	10: 128,915,265 (GRCm39)	D189V	probably damaging	Het
Rec114	T	C	9: 58,567,624 (GRCm39)	S121G	probably benign	Het
Rnase10	A	T	14: 51,247,317 (GRCm39)	I195F	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rreb1	A	G	13: 38,133,087 (GRCm39)	E1754G	probably damaging	Het
Sec31a	G	T	5: 100,531,657 (GRCm39)	C238*	probably null	Het
Slc12a6	T	C	2: 112,169,724 (GRCm39)	V337A	probably damaging	Het
Slc25a37	A	G	14: 69,482,344 (GRCm39)	V319A	possibly damaging	Het
Slc26a10	T	C	10: 127,010,864 (GRCm39)	Y456C	probably benign	Het
Slc27a3	G	A	3: 90,294,382 (GRCm39)	T463I	probably benign	Het
Slc66a3	A	G	12: 17,043,315 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,524,149 (GRCm39)	D781E	probably benign	Het
Tle1	T	C	4: 72,057,208 (GRCm39)		probably benign	Het
Tmem229b-ps	T	C	10: 53,351,325 (GRCm39)		noncoding transcript	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r71	A	G	7: 85,268,622 (GRCm39)	D275G	probably benign	Het
Wdr1	T	C	5: 38,692,543 (GRCm39)	T121A	probably benign	Het

Other mutations in Zdhhc19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02513:Zdhhc19	APN	16	32,318,440 (GRCm39)	missense	probably damaging	0.96
IGL02852:Zdhhc19	APN	16	32,316,460 (GRCm39)	missense	probably damaging	1.00
R1163:Zdhhc19	UTSW	16	32,325,258 (GRCm39)	missense	probably benign	0.09
R1903:Zdhhc19	UTSW	16	32,317,231 (GRCm39)	nonsense	probably null
R4617:Zdhhc19	UTSW	16	32,316,494 (GRCm39)	missense	probably damaging	1.00
R4771:Zdhhc19	UTSW	16	32,317,953 (GRCm39)	missense	probably damaging	1.00
R6030:Zdhhc19	UTSW	16	32,317,860 (GRCm39)	missense	probably null	1.00
R6030:Zdhhc19	UTSW	16	32,317,860 (GRCm39)	missense	probably null	1.00
R6652:Zdhhc19	UTSW	16	32,316,047 (GRCm39)	missense	probably damaging	1.00
R6802:Zdhhc19	UTSW	16	32,325,176 (GRCm39)	missense	possibly damaging	0.87
R8738:Zdhhc19	UTSW	16	32,317,187 (GRCm39)	missense	probably damaging	1.00
R8944:Zdhhc19	UTSW	16	32,316,500 (GRCm39)	missense	probably damaging	1.00
R9243:Zdhhc19	UTSW	16	32,315,992 (GRCm39)	missense	probably damaging	0.98
R9277:Zdhhc19	UTSW	16	32,316,512 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCATTGAAATGCACGGTGG -3'
(R):5'- CAGAAATCTGTCTTCACGACCC -3'

Sequencing Primer
(F):5'- CACGGTGGTGGAACATAAGGTATAC -3'
(R):5'- GTCTTCACGACCCTTCAACAGG -3'

Posted On

2016-09-06