Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00230:Zdhhc16'

2048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zdhhc16

Ensembl Gene

ENSMUSG00000025157

Gene Name

zinc finger, DHHC domain containing 16

Synonyms

1500015N03Rik, Abl-philin 2, APH2

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.611) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

41933480-41944104 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41939660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 206 (F206S)

Ref Sequence

ENSEMBL: ENSMUSP00000026154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026154] [ENSMUST00000026168] [ENSMUST00000163287] [ENSMUST00000163398] [ENSMUST00000164776] [ENSMUST00000167927] [ENSMUST00000171561] [ENSMUST00000224562] [ENSMUST00000225968] [ENSMUST00000224896] [ENSMUST00000224258] [ENSMUST00000223802]

AlphaFold

Q9ESG8

Predicted Effect

probably benign
Transcript: ENSMUST00000026154
AA Change: F206S

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157
AA Change: F206S

Domain	Start	End	E-Value	Type
low complexity region	7	35	N/A	INTRINSIC
transmembrane domain	81	103	N/A	INTRINSIC
transmembrane domain	115	137	N/A	INTRINSIC
Pfam:zf-DHHC	151	289	1e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026168

SMART Domains

Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_N	51	167	1.4e-29	PFAM
Pfam:MMS19_N	163	270	2.4e-44	PFAM
low complexity region	329	343	N/A	INTRINSIC
Pfam:MMS19_C	484	921	4.3e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163287

SMART Domains

Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_N	3	265	9.8e-97	PFAM
Pfam:MMS19_C	381	818	1e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163398

Predicted Effect

probably benign
Transcript: ENSMUST00000164776

Predicted Effect

probably benign
Transcript: ENSMUST00000166090

SMART Domains

Protein: ENSMUSP00000131219
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_C	102	494	2.2e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167927

SMART Domains

Protein: ENSMUSP00000132483
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_N	51	313	4.6e-99	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170209

Predicted Effect

probably benign
Transcript: ENSMUST00000171561

SMART Domains

Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159

Domain	Start	End	E-Value	Type
Pfam:MMS19_N	51	312	6.3e-90	PFAM
low complexity region	372	386	N/A	INTRINSIC
Pfam:MMS19_C	528	963	3.9e-116	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223785

Predicted Effect

probably benign
Transcript: ENSMUST00000224537
AA Change: F80S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000224562

Predicted Effect

probably benign
Transcript: ENSMUST00000225968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225433

Predicted Effect

probably benign
Transcript: ENSMUST00000224896

Predicted Effect

probably benign
Transcript: ENSMUST00000224258

Predicted Effect

probably benign
Transcript: ENSMUST00000223802

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display prenatal and neonatal lethality with bradycardia, abnormal heart morphology and eye defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,420,107	A215V	probably damaging	Het
Cyp2j6	C	T	4: 96,536,046	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,196,766	D507G	probably benign	Het
Fam13b	T	C	18: 34,487,096	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,999,070		probably benign	Het
Galnt5	A	T	2: 57,998,973	Q195L	probably benign	Het
Gfm2	A	G	13: 97,155,442	T229A	probably benign	Het
Gigyf1	A	G	5: 137,522,745		probably benign	Het
Gm4353	G	T	7: 116,083,554	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,228,707	I389F	probably benign	Het
Hist1h2bm	G	T	13: 21,722,375	R93L	possibly damaging	Het
Htt	A	G	5: 34,799,408	T194A	probably benign	Het
Ighg3	T	C	12: 113,359,837	Y273C	unknown	Het
Kdm5b	T	A	1: 134,620,955	V1066D	probably damaging	Het
Kif1a	G	T	1: 93,054,934	A707E	probably damaging	Het
Maats1	A	G	16: 38,336,342		probably null	Het
Mars	A	G	10: 127,298,006	M674T	probably benign	Het
Mas1	T	C	17: 12,841,990	D182G	probably benign	Het
Metap1d	T	A	2: 71,512,162	D178E	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Ninl	T	C	2: 150,966,241	E289G	probably damaging	Het
Pmel	G	T	10: 128,716,089	G264V	possibly damaging	Het
Ruvbl1	T	C	6: 88,484,403		probably benign	Het
Scn8a	T	A	15: 100,955,532		probably benign	Het
Sept9	T	C	11: 117,354,804		probably benign	Het
Sgpp1	G	T	12: 75,716,194	Y404*	probably null	Het
Sgsm1	T	C	5: 113,245,064	I788V	probably benign	Het
Slc13a4	A	T	6: 35,289,824	M112K	probably benign	Het
Slc22a29	T	C	19: 8,217,813	M153V	probably benign	Het
Slc9c1	T	G	16: 45,573,389	V565G	possibly damaging	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Tec	C	T	5: 72,768,768	A314T	probably damaging	Het
Tg	A	G	15: 66,827,290	I803V	probably benign	Het
Trav9-1	A	T	14: 53,488,393	I55F	probably benign	Het
Ttll12	C	A	15: 83,578,656	E536D	probably benign	Het
Ubqln1	C	A	13: 58,177,992	E152*	probably null	Het
Wwtr1	G	A	3: 57,463,491	T338I	probably benign	Het

Other mutations in Zdhhc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Zdhhc16	APN	19	41938048	splice site	probably null
IGL01368:Zdhhc16	APN	19	41941506	splice site	probably null
IGL02191:Zdhhc16	APN	19	41937691	nonsense	probably null
FR4342:Zdhhc16	UTSW	19	41942149	intron	probably benign
FR4548:Zdhhc16	UTSW	19	41942168	frame shift	probably null
PIT4458001:Zdhhc16	UTSW	19	41937770	missense	possibly damaging	0.66
R1258:Zdhhc16	UTSW	19	41938044	missense	possibly damaging	0.64
R1335:Zdhhc16	UTSW	19	41940634	splice site	probably null
R1757:Zdhhc16	UTSW	19	41941955	missense	probably damaging	1.00
R3833:Zdhhc16	UTSW	19	41938114	critical splice donor site	probably null
R4381:Zdhhc16	UTSW	19	41940654	missense	possibly damaging	0.63
R4615:Zdhhc16	UTSW	19	41943683	missense	possibly damaging	0.74
R5789:Zdhhc16	UTSW	19	41938133	missense	probably damaging	1.00
R6177:Zdhhc16	UTSW	19	41937759	missense	probably benign	0.06
R7252:Zdhhc16	UTSW	19	41941551	missense	probably damaging	1.00
R8458:Zdhhc16	UTSW	19	41939654	missense	probably damaging	0.99
R8991:Zdhhc16	UTSW	19	41938026	missense	probably damaging	1.00
R9341:Zdhhc16	UTSW	19	41938110	missense	probably benign	0.00
R9343:Zdhhc16	UTSW	19	41938110	missense	probably benign	0.00

Posted On

2011-12-09