Mutagenetix > Incidental Mutation

Incidental Mutation 'R1258:Zdhhc16'

151530

Institutional Source

Beutler Lab

Gene Symbol

Zdhhc16

Ensembl Gene

ENSMUSG00000025157

Gene Name

zinc finger, DHHC domain containing 16

Synonyms

1500015N03Rik, Ablphilin 2, Abl-philin 2, APH2

MMRRC Submission

039325-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R1258 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41921919-41932543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41926483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 89 (V89M)

Ref Sequence

ENSEMBL: ENSMUSP00000153627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026154] [ENSMUST00000075280] [ENSMUST00000112123] [ENSMUST00000167927] [ENSMUST00000171561] [ENSMUST00000224258] [ENSMUST00000224562] [ENSMUST00000225968] [ENSMUST00000224896] [ENSMUST00000223802]

AlphaFold

Q9ESG8

Predicted Effect

probably benign
Transcript: ENSMUST00000026154
AA Change: V89M

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157
AA Change: V89M

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: ENSMUST00000075280

SMART Domains

Protein: ENSMUSP00000074756
Gene: ENSMUSG00000034321

Domain	Start	End	E-Value	Type
Pfam:ECR1_N	8	44	3.8e-12	PFAM
S1	66	147	3.75e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112123

SMART Domains

Protein: ENSMUSP00000107751
Gene: ENSMUSG00000034321

Domain	Start	End	E-Value	Type
Pfam:ECR1_N	7	41	3.9e-14	PFAM
Pfam:EXOSC1	64	94	7.9e-10	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

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

probably benign
Transcript: ENSMUST00000224258
AA Change: V89M

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224562
AA Change: V89M

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000225968
AA Change: V69M

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225433

Predicted Effect

probably benign
Transcript: ENSMUST00000224896

Predicted Effect

probably benign
Transcript: ENSMUST00000223802

Predicted Effect

probably benign
Transcript: ENSMUST00000224537

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	C	7: 133,539,176 (GRCm39)	E112G	probably damaging	Het
Ccar2	T	C	14: 70,390,122 (GRCm39)	N17D	probably benign	Het
Dnajc9	G	A	14: 20,438,765 (GRCm39)		probably null	Het
Igsf9	G	A	1: 172,319,722 (GRCm39)	R339H	probably benign	Het
Inpp5a	G	T	7: 139,105,660 (GRCm39)	G212C	probably damaging	Het
Itsn2	A	G	12: 4,723,464 (GRCm39)	E1133G	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Pcdhb17	A	T	18: 37,618,587 (GRCm39)	I126L	probably damaging	Het
Qtrt2	A	G	16: 43,689,446 (GRCm39)	V184A	possibly damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Sall3	G	A	18: 81,017,280 (GRCm39)	A216V	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
St8sia6	T	C	2: 13,661,695 (GRCm39)	M379V	probably benign	Het
Ubr4	T	A	4: 139,154,225 (GRCm39)	L2144H	probably damaging	Het
Ypel1	A	T	16: 16,923,917 (GRCm39)	L44H	probably damaging	Het
Ythdf1	C	A	2: 180,553,103 (GRCm39)	A371S	probably benign	Het
Zfp37	A	T	4: 62,110,054 (GRCm39)	Y375N	probably damaging	Het
Zmat3	A	T	3: 32,397,820 (GRCm39)	N147K	probably damaging	Het

Other mutations in Zdhhc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Zdhhc16	APN	19	41,928,099 (GRCm39)	missense	probably benign	0.29
IGL01290:Zdhhc16	APN	19	41,926,487 (GRCm39)	splice site	probably null
IGL01368:Zdhhc16	APN	19	41,929,945 (GRCm39)	splice site	probably null
IGL02191:Zdhhc16	APN	19	41,926,130 (GRCm39)	nonsense	probably null
FR4342:Zdhhc16	UTSW	19	41,930,588 (GRCm39)	intron	probably benign
FR4548:Zdhhc16	UTSW	19	41,930,607 (GRCm39)	frame shift	probably null
PIT4458001:Zdhhc16	UTSW	19	41,926,209 (GRCm39)	missense	possibly damaging	0.66
R1335:Zdhhc16	UTSW	19	41,929,073 (GRCm39)	splice site	probably null
R1757:Zdhhc16	UTSW	19	41,930,394 (GRCm39)	missense	probably damaging	1.00
R3833:Zdhhc16	UTSW	19	41,926,553 (GRCm39)	critical splice donor site	probably null
R4381:Zdhhc16	UTSW	19	41,929,093 (GRCm39)	missense	possibly damaging	0.63
R4615:Zdhhc16	UTSW	19	41,932,122 (GRCm39)	missense	possibly damaging	0.74
R5789:Zdhhc16	UTSW	19	41,926,572 (GRCm39)	missense	probably damaging	1.00
R6177:Zdhhc16	UTSW	19	41,926,198 (GRCm39)	missense	probably benign	0.06
R7252:Zdhhc16	UTSW	19	41,929,990 (GRCm39)	missense	probably damaging	1.00
R8458:Zdhhc16	UTSW	19	41,928,093 (GRCm39)	missense	probably damaging	0.99
R8991:Zdhhc16	UTSW	19	41,926,465 (GRCm39)	missense	probably damaging	1.00
R9341:Zdhhc16	UTSW	19	41,926,549 (GRCm39)	missense	probably benign	0.00
R9343:Zdhhc16	UTSW	19	41,926,549 (GRCm39)	missense	probably benign	0.00
R9510:Zdhhc16	UTSW	19	41,929,155 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGCTGCCTTTGAGCCTGTC -3'
(R):5'- AGCAATGTCATTCCTGCCCTGTG -3'

Sequencing Primer
(F):5'- TGGACAATGTGATCCGCTG -3'
(R):5'- GAGAAGATTTCTGCCTCCAAAG -3'

Posted On

2014-01-29