Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01290:Zdhhc16'

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Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zdhhc16

Ensembl Gene

ENSMUSG00000025157

Gene Name

zinc finger, DHHC domain containing 16

Synonyms

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

IGL01290

Quality Score

Status

Chromosome

Chromosomal Location

41921919-41932543 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 41926487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9ESG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026154
AA Change: L90Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157
AA Change: L90Q

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 damaging
Transcript: ENSMUST00000224258
AA Change: L90Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224562
AA Change: L90Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225968
AA Change: L70Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000224896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223785

Predicted Effect

probably null
Transcript: ENSMUST00000223802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225433

Predicted Effect

probably null
Transcript: ENSMUST00000224537

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	A	G	11: 83,331,621 (GRCm39)	H148R	possibly damaging	Het
Abca13	T	A	11: 9,206,232 (GRCm39)	H177Q	probably damaging	Het
Adamts18	T	A	8: 114,501,575 (GRCm39)	E349D	probably damaging	Het
Cers5	G	A	15: 99,637,536 (GRCm39)	R190*	probably null	Het
Cntnap2	C	T	6: 45,992,399 (GRCm39)	T442I	probably benign	Het
Col14a1	C	T	15: 55,286,903 (GRCm39)	A908V	unknown	Het
Ctnna2	T	C	6: 76,859,543 (GRCm39)	D951G	possibly damaging	Het
Dock3	T	C	9: 106,835,599 (GRCm39)		probably benign	Het
Enpp2	T	C	15: 54,782,998 (GRCm39)	T106A	possibly damaging	Het
Fscn3	T	C	6: 28,430,505 (GRCm39)	V225A	probably benign	Het
Ftmt	A	G	18: 52,465,185 (GRCm39)	N167S	probably damaging	Het
Gnal	A	G	18: 67,344,169 (GRCm39)	D181G	probably damaging	Het
Gxylt2	A	G	6: 100,727,408 (GRCm39)	Y174C	probably damaging	Het
Hgf	G	A	5: 16,809,844 (GRCm39)	D445N	probably damaging	Het
Hoxb8	A	G	11: 96,175,093 (GRCm39)	I176V	possibly damaging	Het
Itgbl1	A	T	14: 124,204,137 (GRCm39)	E285D	probably benign	Het
Megf8	C	T	7: 25,049,083 (GRCm39)	R1727*	probably null	Het
Nrap	T	C	19: 56,350,180 (GRCm39)	D611G	probably damaging	Het
Nudt19	A	G	7: 35,247,501 (GRCm39)	S303P	probably damaging	Het
Rhcg	A	G	7: 79,248,342 (GRCm39)	F421L	probably benign	Het
Ripk2	T	C	4: 16,139,198 (GRCm39)		probably benign	Het
Rnf139	A	G	15: 58,770,175 (GRCm39)	I67V	probably benign	Het
Smarca5	A	G	8: 81,454,277 (GRCm39)	S256P	probably benign	Het
Sun3	C	T	11: 8,973,341 (GRCm39)	G119S	possibly damaging	Het
Tlr12	A	C	4: 128,511,630 (GRCm39)	S207A	probably damaging	Het
Uhrf2	T	A	19: 30,016,701 (GRCm39)		probably benign	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
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
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

Posted On

2013-10-07