Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02635:Zdhhc12'

301487

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 #

IGL02635

Quality Score

Status

Chromosome

Chromosomal Location

29980956-29983647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29983531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 24 (I24F)

Ref Sequence

ENSEMBL: ENSMUSP00000099929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044751] [ENSMUST00000045246] [ENSMUST00000081838] [ENSMUST00000102865] [ENSMUST00000113677]

AlphaFold

Q8VC90

Predicted Effect

probably benign
Transcript: ENSMUST00000044751

SMART Domains

Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686

Domain	Start	End	E-Value	Type
SCOP:d1jdha_	405	774	3e-15	SMART
Blast:ARM	440	480	2e-18	BLAST
Blast:ARM	524	569	4e-24	BLAST
Blast:ARM	571	613	6e-22	BLAST
Blast:ARM	617	656	7e-8	BLAST
Blast:ARM	686	724	6e-18	BLAST

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: I24F

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

SMART Domains

Protein: ENSMUSP00000080521
Gene: ENSMUSG00000015335
AA Change: I24F

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: I24F

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

SMART Domains

Protein: ENSMUSP00000099929
Gene: ENSMUSG00000015335
AA Change: I24F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113677

SMART Domains

Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686

Domain	Start	End	E-Value	Type
SCOP:d1jdha_	392	761	3e-15	SMART
Blast:ARM	427	467	2e-18	BLAST
Blast:ARM	511	556	4e-24	BLAST
Blast:ARM	558	600	2e-21	BLAST
Blast:ARM	604	643	7e-8	BLAST
Blast:ARM	673	711	6e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148650

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	A	C	12: 112,381,586 (GRCm39)		noncoding transcript	Het
Abcc12	C	T	8: 87,236,311 (GRCm39)		probably benign	Het
Akap9	T	C	5: 4,120,500 (GRCm39)	S3639P	possibly damaging	Het
Ankar	C	T	1: 72,691,590 (GRCm39)	V1124I	possibly damaging	Het
AW209491	C	T	13: 14,811,852 (GRCm39)	A235V	possibly damaging	Het
Cask	A	T	X: 13,581,009 (GRCm39)	D58E	probably damaging	Het
Cdhr4	T	A	9: 107,870,070 (GRCm39)	M25K	probably benign	Het
Clasp2	A	G	9: 113,737,910 (GRCm39)	I1096V	probably damaging	Het
Fam234a	T	A	17: 26,433,427 (GRCm39)	I410F	possibly damaging	Het
Gbe1	T	C	16: 70,365,902 (GRCm39)	L693P	probably damaging	Het
Golgb1	G	T	16: 36,735,375 (GRCm39)	V1541L	probably benign	Het
Gpr143	G	A	X: 151,591,257 (GRCm39)	E382K	probably damaging	Het
Gpr171	C	T	3: 59,005,017 (GRCm39)	V253I	probably benign	Het
Gsap	T	A	5: 21,494,814 (GRCm39)	W10R	probably damaging	Het
Hsd17b12	T	A	2: 93,913,556 (GRCm39)	D116V	possibly damaging	Het
Ifih1	A	T	2: 62,442,173 (GRCm39)	L348Q	probably damaging	Het
Ighv1-50	G	A	12: 115,083,615 (GRCm39)	A35V	probably benign	Het
Lrcol1	A	C	5: 110,502,459 (GRCm39)	M112L	probably benign	Het
Lrrc59	T	A	11: 94,534,282 (GRCm39)	V280E	probably damaging	Het
Med17	A	T	9: 15,185,845 (GRCm39)	I223K	probably damaging	Het
Oog3	T	C	4: 143,884,715 (GRCm39)	N407S	probably damaging	Het
Or4e1	T	C	14: 52,701,251 (GRCm39)	I72V	probably damaging	Het
Pear1	T	C	3: 87,657,453 (GRCm39)	*1035W	probably null	Het
Pkd1	T	A	17: 24,791,785 (GRCm39)	F1157L	probably damaging	Het
Pkp4	T	C	2: 59,135,842 (GRCm39)		probably benign	Het
Ppl	T	C	16: 4,907,631 (GRCm39)	E888G	probably benign	Het
Prh1	G	A	6: 132,549,246 (GRCm39)	G251E	unknown	Het
Prkar2a	A	G	9: 108,605,476 (GRCm39)	E178G	probably damaging	Het
Rfx6	A	T	10: 51,592,122 (GRCm39)	T352S	possibly damaging	Het
S1pr1	T	C	3: 115,505,739 (GRCm39)	K285R	probably benign	Het
Slc12a1	A	G	2: 125,067,898 (GRCm39)	H995R	probably benign	Het
Slc25a54	T	A	3: 109,020,133 (GRCm39)	N382K	possibly damaging	Het
Snrnp48	T	G	13: 38,393,845 (GRCm39)		probably benign	Het
Spg11	T	C	2: 121,943,549 (GRCm39)	D201G	possibly damaging	Het
Stox1	T	C	10: 62,500,685 (GRCm39)	D625G	probably benign	Het
Supt6	T	C	11: 78,103,565 (GRCm39)	H1380R	probably damaging	Het
Tcp1	T	A	17: 13,142,296 (GRCm39)	M430K	probably benign	Het
Tlr12	A	T	4: 128,510,609 (GRCm39)	V547E	probably damaging	Het
Tmem255b	G	T	8: 13,505,195 (GRCm39)	D167Y	probably damaging	Het
Trpc7	T	C	13: 56,923,981 (GRCm39)	R735G	probably damaging	Het
Trpm1	A	G	7: 63,848,972 (GRCm39)	T73A	probably benign	Het
Ubr3	A	T	2: 69,850,827 (GRCm39)	L1748F	probably damaging	Het
Xirp2	T	C	2: 67,338,254 (GRCm39)	I165T	possibly damaging	Het
Ybx1	T	C	4: 119,136,286 (GRCm39)	N282S	possibly damaging	Het

Other mutations in Zdhhc12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02325:Zdhhc12	APN	2	29,981,448 (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