Mutagenetix > Incidental Mutation

Incidental Mutation 'R1335:Zdhhc16'

156859

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

039400-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R1335 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41921919-41932543 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 41929073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153627 (fasta)

Gene Model

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

AlphaFold

Q9ESG8

Predicted Effect

probably null
Transcript: ENSMUST00000026154

SMART Domains

Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157

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 null
Transcript: ENSMUST00000224562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223785

Predicted Effect

probably benign
Transcript: ENSMUST00000223802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223768

Predicted Effect

probably benign
Transcript: ENSMUST00000225968

Predicted Effect

probably benign
Transcript: ENSMUST00000224258

Predicted Effect

probably benign
Transcript: ENSMUST00000224537

Predicted Effect

probably benign
Transcript: ENSMUST00000224896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225433

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (32/32)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Cd209d	T	A	8: 3,922,027 (GRCm39)	D185V	probably damaging	Het
Cdc42bpb	T	C	12: 111,262,875 (GRCm39)	Y1484C	probably damaging	Het
Cdh9	T	C	15: 16,850,878 (GRCm39)	V549A	probably benign	Het
Cmya5	C	T	13: 93,178,043 (GRCm39)	V3604M	possibly damaging	Het
Eprs1	T	A	1: 185,119,286 (GRCm39)	W489R	probably damaging	Het
Galnt14	T	A	17: 73,833,285 (GRCm39)	I230F	probably damaging	Het
Gm19965	A	G	1: 116,732,349 (GRCm39)	K64R	possibly damaging	Het
Gpr141	T	G	13: 19,936,034 (GRCm39)	Y247S	possibly damaging	Het
Ivd	A	T	2: 118,699,923 (GRCm39)	H52L	probably benign	Het
Mcoln2	A	G	3: 145,885,929 (GRCm39)	H260R	probably benign	Het
Mdga2	T	C	12: 66,763,516 (GRCm39)		probably null	Het
Mtarc1	C	T	1: 184,536,138 (GRCm39)	R98Q	probably benign	Het
Ndrg3	T	C	2: 156,787,928 (GRCm39)		probably benign	Het
Or2l13	T	C	16: 19,305,803 (GRCm39)	Y72H	probably benign	Het
Pcdhb17	A	T	18: 37,619,287 (GRCm39)	N359I	probably damaging	Het
Phf24	G	A	4: 42,934,657 (GRCm39)	V98I	probably benign	Het
Pkhd1	C	A	1: 20,641,629 (GRCm39)	G270W	probably damaging	Het
Pkhd1l1	G	A	15: 44,368,943 (GRCm39)	V863I	probably damaging	Het
Prss51	T	G	14: 64,333,620 (GRCm39)		probably null	Het
Scarb2	C	T	5: 92,599,205 (GRCm39)		probably null	Het
Simc1	ACCA	ACCANNNNNNNNNNNNNNNNNNCCA	13: 54,673,078 (GRCm39)		probably benign	Het
Slco1c1	T	A	6: 141,487,853 (GRCm39)	Y192N	probably damaging	Het
Smco2	T	C	6: 146,763,585 (GRCm39)		probably benign	Het
Snx13	A	G	12: 35,182,123 (GRCm39)	D724G	probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Sytl4	GAAAAAA	GAAAAA	X: 132,861,875 (GRCm39)		probably benign	Het
Tnr	A	G	1: 159,695,600 (GRCm39)	T508A	probably benign	Het
Vmn1r30	A	G	6: 58,412,080 (GRCm39)	S251P	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
R1258:Zdhhc16	UTSW	19	41,926,483 (GRCm39)	missense	possibly damaging	0.64
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'- CTCTTGTGGGTGTAGCCACATAGTG -3'
(R):5'- AGCATTCTTTGCCAGCCTCAGAC -3'

Sequencing Primer
(F):5'- GCAAGCTACAGATTCAGTTAGTTCC -3'
(R):5'- gcatacgcccttactccc -3'

Posted On

2014-02-11