Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00228:Wdfy2'

2143

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdfy2

Ensembl Gene

ENSMUSG00000014547

Gene Name

WD repeat and FYVE domain containing 2

Synonyms

B130024L21Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

IGL00228

Quality Score

Status

Chromosome

Chromosomal Location

63075127-63198958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63181526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 219 (S219T)

Ref Sequence

ENSEMBL: ENSMUSP00000014691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014691]

AlphaFold

Q8BUB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000014691
AA Change: S219T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000014691
Gene: ENSMUSG00000014547
AA Change: S219T

Domain	Start	End	E-Value	Type
WD40	13	52	1.92e0	SMART
Blast:WD40	56	96	1e-21	BLAST
WD40	103	142	1.43e1	SMART
Blast:WD40	145	183	2e-16	BLAST
WD40	188	227	6.68e-10	SMART
WD40	231	270	5.31e-4	SMART
FYVE	276	353	1.04e-22	SMART
WD40	355	394	7e-4	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	G	A	13: 104,566,298 (GRCm39)	G731D	possibly damaging	Het
Adgre4	C	T	17: 56,109,135 (GRCm39)	L381F	probably damaging	Het
Baz2a	A	G	10: 127,960,804 (GRCm39)	T1538A	probably benign	Het
C1qtnf6	T	C	15: 78,409,094 (GRCm39)	Y251C	probably damaging	Het
Cgn	T	C	3: 94,672,855 (GRCm39)	N941S	probably benign	Het
Clca4b	T	C	3: 144,638,152 (GRCm39)	I37V	probably benign	Het
Crtc1	T	C	8: 70,892,172 (GRCm39)	K13E	probably benign	Het
Cubn	A	G	2: 13,461,508 (GRCm39)	L673P	probably damaging	Het
Cyp4f18	C	T	8: 72,743,771 (GRCm39)	V395I	probably damaging	Het
Def8	A	G	8: 124,186,389 (GRCm39)	D400G	possibly damaging	Het
Dvl1	A	G	4: 155,938,155 (GRCm39)	D101G	possibly damaging	Het
Fbxw20	T	A	9: 109,063,770 (GRCm39)	M1L	probably damaging	Het
Gad2	C	T	2: 22,575,398 (GRCm39)	H501Y	probably benign	Het
Herc3	C	T	6: 58,851,248 (GRCm39)	P499L	probably damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kyat3	G	A	3: 142,432,018 (GRCm39)	V249I	probably damaging	Het
Med28	A	G	5: 45,680,812 (GRCm39)	E92G	probably damaging	Het
Mtcl3	T	A	10: 29,072,469 (GRCm39)	L587*	probably null	Het
Nup155	T	C	15: 8,150,939 (GRCm39)		probably benign	Het
Nxf1	T	C	19: 8,740,106 (GRCm39)	I91T	possibly damaging	Het
Or8g50	T	C	9: 39,648,795 (GRCm39)	I228T	probably damaging	Het
Orc5	T	A	5: 22,728,537 (GRCm39)	T305S	probably damaging	Het
Psme4	T	C	11: 30,765,710 (GRCm39)		probably null	Het
Rtca	A	G	3: 116,298,110 (GRCm39)	C100R	probably damaging	Het
Septin14	G	T	5: 129,760,715 (GRCm39)	H377N	probably benign	Het
Shcbp1l	A	T	1: 153,311,553 (GRCm39)	N258I	possibly damaging	Het
Shisa4	A	C	1: 135,301,023 (GRCm39)	S82R	probably damaging	Het
Slc38a10	C	T	11: 120,029,814 (GRCm39)	V167M	probably damaging	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Spata18	G	A	5: 73,815,097 (GRCm39)	E69K	possibly damaging	Het
Srsf2	A	C	11: 116,743,096 (GRCm39)		probably benign	Het
Taf1b	T	A	12: 24,597,066 (GRCm39)	V335E	possibly damaging	Het
Tenm4	G	A	7: 96,517,216 (GRCm39)	V1399I	probably benign	Het
Topbp1	C	T	9: 103,222,142 (GRCm39)	R1338C	probably benign	Het
Ugt1a5	A	G	1: 88,094,162 (GRCm39)	E130G	probably benign	Het
Zbtb38	C	A	9: 96,569,547 (GRCm39)	R512S	probably damaging	Het
Zfp574	T	C	7: 24,781,015 (GRCm39)	V679A	probably benign	Het

Other mutations in Wdfy2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02374:Wdfy2	APN	14	63,171,833 (GRCm39)	missense	probably benign	0.06
IGL03039:Wdfy2	APN	14	63,186,169 (GRCm39)	missense	probably benign	0.36
Special_k	UTSW	14	63,186,115 (GRCm39)	missense	probably damaging	1.00
R0391:Wdfy2	UTSW	14	63,162,582 (GRCm39)	missense	possibly damaging	0.83
R0925:Wdfy2	UTSW	14	63,167,675 (GRCm39)	critical splice acceptor site	probably null
R1711:Wdfy2	UTSW	14	63,181,546 (GRCm39)	missense	probably benign	0.00
R4299:Wdfy2	UTSW	14	63,162,589 (GRCm39)	nonsense	probably null
R5372:Wdfy2	UTSW	14	63,192,334 (GRCm39)	missense	probably damaging	1.00
R6418:Wdfy2	UTSW	14	63,162,582 (GRCm39)	missense	probably benign	0.32
R6466:Wdfy2	UTSW	14	63,186,115 (GRCm39)	missense	probably damaging	1.00
R7055:Wdfy2	UTSW	14	63,137,748 (GRCm39)	missense	probably benign	0.00
R7977:Wdfy2	UTSW	14	63,189,380 (GRCm39)	missense	possibly damaging	0.57
R7987:Wdfy2	UTSW	14	63,189,380 (GRCm39)	missense	possibly damaging	0.57
X0019:Wdfy2	UTSW	14	63,186,192 (GRCm39)	nonsense	probably null
Z1176:Wdfy2	UTSW	14	63,171,782 (GRCm39)	missense	probably damaging	1.00

Posted On

2011-12-09