Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01078:Zfyve19'

50433

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfyve19

Ensembl Gene

ENSMUSG00000068580

Gene Name

zinc finger, FYVE domain containing 19

Synonyms

1500041L05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

IGL01078

Quality Score

Status

Chromosome

Chromosomal Location

119039098-119047530 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 119046981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 350 (C350*)

Ref Sequence

ENSEMBL: ENSMUSP00000087636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076084] [ENSMUST00000090174] [ENSMUST00000102519] [ENSMUST00000110820]

AlphaFold

Q9DAZ9

PDB Structure

FYVE domain of FYVE domain containing 19 protein from Mus musculus [SOLUTION NMR]
Solution structure of the B-box domain of the zinc finger FYVE domain-containing protein 19 from Mus musculus [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000076084

SMART Domains

Protein: ENSMUSP00000075453
Gene: ENSMUSG00000027317

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:PP1_inhibitor	22	146	1.3e-46	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000090174
AA Change: C350*

SMART Domains

Protein: ENSMUSP00000087636
Gene: ENSMUSG00000068580
AA Change: C350*

Domain	Start	End	E-Value	Type
FYVE	2	59	4.32e-6	SMART
RING	8	53	5.56e-1	SMART
low complexity region	167	187	N/A	INTRINSIC
coiled coil region	226	260	N/A	INTRINSIC
low complexity region	325	335	N/A	INTRINSIC
PDB:2D8V\|A	336	389	2e-35	PDB
Blast:RING	339	380	7e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000102519

SMART Domains

Protein: ENSMUSP00000099577
Gene: ENSMUSG00000068580

Domain	Start	End	E-Value	Type
FYVE	2	59	4.32e-6	SMART
RING	8	53	5.56e-1	SMART
low complexity region	167	187	N/A	INTRINSIC
coiled coil region	226	260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110820

SMART Domains

Protein: ENSMUSP00000106444
Gene: ENSMUSG00000027317

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:PP1_inhibitor	22	100	2.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154185

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153349

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cc2d1a	C	T	8: 84,866,894 (GRCm39)	V393M	possibly damaging	Het
Dpep3	G	A	8: 106,704,860 (GRCm39)	A150V	probably damaging	Het
Etl4	C	T	2: 20,811,342 (GRCm39)	R1510*	probably null	Het
Gm773	T	C	X: 55,242,013 (GRCm39)	E112G	probably damaging	Het
Hlcs	A	G	16: 93,934,019 (GRCm39)	I760T	probably damaging	Het
Mllt3	A	G	4: 87,798,297 (GRCm39)		probably benign	Het
Or5p56	T	A	7: 107,590,150 (GRCm39)	S193T	probably benign	Het
Plxna2	T	A	1: 194,469,001 (GRCm39)		probably benign	Het
Trp53inp1	T	A	4: 11,165,369 (GRCm39)	V131D	probably damaging	Het
Vmn2r117	A	G	17: 23,696,778 (GRCm39)	W210R	probably damaging	Het

Other mutations in Zfyve19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Zfyve19	APN	2	119,041,094 (GRCm39)	splice site	probably benign
IGL02387:Zfyve19	APN	2	119,046,907 (GRCm39)	unclassified	probably benign
IGL02623:Zfyve19	APN	2	119,042,496 (GRCm39)	critical splice donor site	probably null
IGL02904:Zfyve19	APN	2	119,040,953 (GRCm39)	splice site	probably benign
IGL02938:Zfyve19	APN	2	119,041,999 (GRCm39)	missense	probably benign
IGL03190:Zfyve19	APN	2	119,046,717 (GRCm39)	missense	probably damaging	0.98
R0653:Zfyve19	UTSW	2	119,041,696 (GRCm39)	missense	probably benign	0.00
R0835:Zfyve19	UTSW	2	119,041,266 (GRCm39)	missense	probably benign	0.41
R1709:Zfyve19	UTSW	2	119,041,300 (GRCm39)	missense	probably damaging	0.96
R1824:Zfyve19	UTSW	2	119,042,016 (GRCm39)	missense	probably benign	0.00
R1938:Zfyve19	UTSW	2	119,041,693 (GRCm39)	missense	probably benign
R3699:Zfyve19	UTSW	2	119,041,720 (GRCm39)	missense	probably benign	0.03
R4177:Zfyve19	UTSW	2	119,046,693 (GRCm39)	missense	possibly damaging	0.48
R4191:Zfyve19	UTSW	2	119,041,312 (GRCm39)	missense	possibly damaging	0.84
R5492:Zfyve19	UTSW	2	119,039,595 (GRCm39)	start gained	probably benign
R5531:Zfyve19	UTSW	2	119,042,427 (GRCm39)	missense	probably damaging	0.99
R6349:Zfyve19	UTSW	2	119,041,078 (GRCm39)	missense	probably damaging	1.00
R7199:Zfyve19	UTSW	2	119,047,118 (GRCm39)	missense	probably damaging	1.00
R8947:Zfyve19	UTSW	2	119,041,290 (GRCm39)	missense	probably damaging	1.00
R9100:Zfyve19	UTSW	2	119,041,718 (GRCm39)	missense	probably benign	0.27
R9130:Zfyve19	UTSW	2	119,045,330 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-06-21