Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02325:Zdhhc12'

288445

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zdhhc12

Ensembl Gene

ENSMUSG00000015335

Gene Name

zinc finger, DHHC domain containing 12

Synonyms

1190004A01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

IGL02325

Quality Score

Status

Chromosome

Chromosomal Location

29980956-29983647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29981448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 205 (V205I)

Ref Sequence

ENSEMBL: ENSMUSP00000099929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045246] [ENSMUST00000081838] [ENSMUST00000102865]

AlphaFold

Q8VC90

Predicted Effect

probably benign
Transcript: ENSMUST00000045246

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785

Domain	Start	End	E-Value	Type
Hr1	15	78	3.45e-17	SMART
Hr1	98	166	6.19e-19	SMART
Hr1	171	239	3.32e-19	SMART
low complexity region	528	537	N/A	INTRINSIC
S_TKc	548	807	2.52e-93	SMART
S_TK_X	808	872	9.58e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000081838
AA Change: V219I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080521
Gene: ENSMUSG00000015335
AA Change: V219I

Domain	Start	End	E-Value	Type
transmembrane domain	58	80	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
Pfam:zf-DHHC	106	232	1.9e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102865
AA Change: V205I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099929
Gene: ENSMUSG00000015335
AA Change: V205I

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:zf-DHHC	58	218	1.1e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156197

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,250,013 (GRCm39)	I233N	probably damaging	Het
Agtpbp1	C	T	13: 59,648,303 (GRCm39)	G393S	probably benign	Het
Ahctf1	T	C	1: 179,603,580 (GRCm39)	D822G	probably benign	Het
Alpk1	T	C	3: 127,473,552 (GRCm39)	N817S	probably benign	Het
Aoah	G	A	13: 21,101,295 (GRCm39)	E272K	probably damaging	Het
Aoc1	A	G	6: 48,882,829 (GRCm39)	D235G	possibly damaging	Het
Ccdc186	G	T	19: 56,801,788 (GRCm39)	Q110K	probably benign	Het
Celsr2	G	T	3: 108,320,187 (GRCm39)	T875K	probably damaging	Het
Chdh	T	C	14: 29,754,782 (GRCm39)	V264A	probably benign	Het
Col15a1	A	G	4: 47,289,364 (GRCm39)	T854A	probably damaging	Het
Cuedc1	A	T	11: 88,060,999 (GRCm39)	E114V	probably null	Het
Ddx23	A	T	15: 98,545,074 (GRCm39)	D677E	possibly damaging	Het
Ddx24	A	G	12: 103,382,525 (GRCm39)	V640A	probably damaging	Het
Ddx25	T	C	9: 35,465,804 (GRCm39)		probably benign	Het
Ddx43	T	C	9: 78,309,772 (GRCm39)		probably benign	Het
Diaph1	T	C	18: 37,986,653 (GRCm39)	K1111E	probably damaging	Het
Dnah9	T	C	11: 65,725,043 (GRCm39)	D4370G	probably damaging	Het
Eef1e1	A	T	13: 38,840,012 (GRCm39)		probably benign	Het
Egfem1	T	C	3: 29,206,066 (GRCm39)	I101T	probably benign	Het
Gpr142	G	T	11: 114,696,947 (GRCm39)	L164F	probably damaging	Het
Gtf2h5	T	A	17: 6,131,106 (GRCm39)		probably null	Het
Hap1	T	A	11: 100,245,190 (GRCm39)		probably null	Het
Hemgn	T	G	4: 46,396,085 (GRCm39)	I384L	probably benign	Het
Ints3	A	T	3: 90,311,349 (GRCm39)	H419Q	probably damaging	Het
Itgb2	T	C	10: 77,383,026 (GRCm39)	L132P	probably damaging	Het
Krtap29-1	C	T	11: 99,869,159 (GRCm39)	V241M	probably damaging	Het
Lrguk	A	G	6: 34,106,114 (GRCm39)	E713G	probably benign	Het
Lrrk2	G	T	15: 91,610,511 (GRCm39)		probably null	Het
Nlrp14	A	G	7: 106,781,523 (GRCm39)	D240G	possibly damaging	Het
Omt2b	A	T	9: 78,235,854 (GRCm39)	T60S	possibly damaging	Het
Or10ag52	G	T	2: 87,043,850 (GRCm39)	G205W	probably damaging	Het
Pcdhb2	A	G	18: 37,429,733 (GRCm39)	N569D	possibly damaging	Het
Plcd3	G	A	11: 102,971,447 (GRCm39)	R66*	probably null	Het
Polr1a	G	A	6: 71,897,641 (GRCm39)	R212Q	probably benign	Het
Pou3f2	A	T	4: 22,487,020 (GRCm39)	L371Q	probably damaging	Het
Rnf207	A	T	4: 152,396,237 (GRCm39)	I509N	probably damaging	Het
Sema5a	T	G	15: 32,686,977 (GRCm39)	S1030A	possibly damaging	Het
Shank1	C	A	7: 43,976,504 (GRCm39)	S534*	probably null	Het
Sntg2	T	C	12: 30,245,542 (GRCm39)	T495A	probably benign	Het
Spem2	A	T	11: 69,707,789 (GRCm39)	V392D	probably benign	Het
Srrm2	T	A	17: 24,029,453 (GRCm39)		probably benign	Het
Tbc1d8	A	T	1: 39,433,321 (GRCm39)	F287Y	probably damaging	Het
Tgfbi	A	G	13: 56,779,043 (GRCm39)	D422G	probably benign	Het
Tppp	G	A	13: 74,169,295 (GRCm39)	A12T	probably benign	Het
Usp46	C	T	5: 74,197,689 (GRCm39)		probably null	Het

Other mutations in Zdhhc12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02635:Zdhhc12	APN	2	29,983,531 (GRCm39)	missense	probably damaging	1.00
R0066:Zdhhc12	UTSW	2	29,982,547 (GRCm39)	missense	probably damaging	1.00
R0066:Zdhhc12	UTSW	2	29,982,547 (GRCm39)	missense	probably damaging	1.00
R2106:Zdhhc12	UTSW	2	29,981,814 (GRCm39)	missense	probably damaging	1.00
R4583:Zdhhc12	UTSW	2	29,981,496 (GRCm39)	missense	probably benign
R4974:Zdhhc12	UTSW	2	29,981,538 (GRCm39)	missense	probably damaging	1.00
R5365:Zdhhc12	UTSW	2	29,983,521 (GRCm39)	missense	probably damaging	1.00
R5561:Zdhhc12	UTSW	2	29,982,496 (GRCm39)	missense	probably null	1.00
R7837:Zdhhc12	UTSW	2	29,981,709 (GRCm39)	missense	probably damaging	0.96
R8544:Zdhhc12	UTSW	2	29,983,486 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16