Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02081:Wdr83'

192581

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr83

Ensembl Gene

ENSMUSG00000005150

Gene Name

WD repeat domain containing 83

Synonyms

Morg1, 1500041N16Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02081

Quality Score

Status

Chromosome

Chromosomal Location

85801664-85807375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85802472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 258 (F258L)

Ref Sequence

ENSEMBL: ENSMUSP00000122127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078665] [ENSMUST00000079764] [ENSMUST00000093357] [ENSMUST00000152785] [ENSMUST00000149050] [ENSMUST00000152871]

AlphaFold

Q9DAJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000078665

SMART Domains

Protein: ENSMUSP00000077733
Gene: ENSMUSG00000060038

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Pfam:DS	44	354	7.1e-136	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079764

SMART Domains

Protein: ENSMUSP00000078697
Gene: ENSMUSG00000059355

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
Pfam:UPF0139	85	183	6.8e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093357
AA Change: F260L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000091048
Gene: ENSMUSG00000005150
AA Change: F260L

Domain	Start	End	E-Value	Type
WD40	14	53	1.05e-7	SMART
WD40	56	95	8.42e-7	SMART
WD40	98	137	8.1e-9	SMART
WD40	142	179	5.52e-2	SMART
WD40	182	219	1.66e0	SMART
WD40	222	263	7e-4	SMART
WD40	266	304	4.75e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132766

Predicted Effect

probably benign
Transcript: ENSMUST00000152785
AA Change: F258L

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000122127
Gene: ENSMUSG00000005150
AA Change: F258L

Domain	Start	End	E-Value	Type
WD40	14	53	1.05e-7	SMART
WD40	56	95	8.42e-7	SMART
WD40	140	177	5.52e-2	SMART
WD40	180	217	1.66e0	SMART
WD40	220	261	7e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152186

Predicted Effect

probably benign
Transcript: ENSMUST00000142201

Predicted Effect

probably benign
Transcript: ENSMUST00000149050

SMART Domains

Protein: ENSMUSP00000121568
Gene: ENSMUSG00000005150

Domain	Start	End	E-Value	Type
WD40	14	53	1.05e-7	SMART
WD40	56	95	8.42e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152871

SMART Domains

Protein: ENSMUSP00000120308
Gene: ENSMUSG00000060038

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
Pfam:DS	59	142	1.1e-23	PFAM

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 member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a reporter allele exhibit embryonic lethality at E10.5 due to diffuse vascularization and placental insufficiency. Mice heterozygous for the same reporter allele exhibit decreased susceptibility to kidney reperfusion injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	G	T	8: 44,023,233 (GRCm39)	L86I	probably damaging	Het
Adamts17	C	T	7: 66,711,858 (GRCm39)	R726C	probably damaging	Het
Aff1	A	G	5: 103,982,171 (GRCm39)	K778R	probably damaging	Het
Agr2	G	A	12: 36,045,655 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,597,285 (GRCm39)	C1173S	possibly damaging	Het
Apol7b	A	G	15: 77,307,736 (GRCm39)	L253P	possibly damaging	Het
Atp10a	A	T	7: 58,477,604 (GRCm39)	T1268S	possibly damaging	Het
Atr	A	T	9: 95,765,258 (GRCm39)	K1149N	probably damaging	Het
Bri3bp	G	A	5: 125,518,961 (GRCm39)		probably null	Het
Ccser1	T	A	6: 61,288,152 (GRCm39)	L105*	probably null	Het
Cyp4a10	G	A	4: 115,378,369 (GRCm39)	A152T	possibly damaging	Het
Dock2	C	T	11: 34,204,355 (GRCm39)	D1396N	probably benign	Het
Ext1	A	T	15: 52,936,842 (GRCm39)	Y634*	probably null	Het
Fbh1	T	C	2: 11,768,938 (GRCm39)	D285G	probably benign	Het
Gcn1	A	G	5: 115,723,930 (GRCm39)	K529E	probably damaging	Het
H2-Q2	A	G	17: 35,561,684 (GRCm39)	D58G	probably damaging	Het
Hid1	T	C	11: 115,239,332 (GRCm39)	D776G	possibly damaging	Het
Il18r1	A	T	1: 40,537,665 (GRCm39)	S477C	probably damaging	Het
Irag1	T	C	7: 110,523,281 (GRCm39)		probably null	Het
Jmjd1c	T	G	10: 67,055,305 (GRCm39)	F242V	probably benign	Het
Krtap4-1	G	A	11: 99,519,010 (GRCm39)		probably benign	Het
Mms19	A	G	19: 41,938,418 (GRCm39)		probably null	Het
Mpdz	T	C	4: 81,254,106 (GRCm39)	T1009A	probably damaging	Het
Mrpl22	T	C	11: 58,062,647 (GRCm39)	I19T	probably benign	Het
Nup88	A	G	11: 70,845,480 (GRCm39)		probably benign	Het
Or5b94	A	T	19: 12,652,180 (GRCm39)	I204F	probably benign	Het
Pnpo	T	C	11: 96,830,150 (GRCm39)	Y183C	probably damaging	Het
Poln	C	T	5: 34,286,483 (GRCm39)	M228I	probably benign	Het
Scara5	T	C	14: 65,968,104 (GRCm39)	W126R	possibly damaging	Het
Scmh1	T	G	4: 120,372,275 (GRCm39)	C359W	probably damaging	Het
Snrpn	T	C	7: 59,637,194 (GRCm39)	I41V	possibly damaging	Het
St8sia1	T	C	6: 142,774,953 (GRCm39)	M209V	probably benign	Het
Stard9	T	A	2: 120,495,391 (GRCm39)	S89T	probably damaging	Het
Tet1	T	C	10: 62,649,597 (GRCm39)	T1667A	probably damaging	Het
Tmem217	C	T	17: 29,745,347 (GRCm39)	G128S	probably damaging	Het
Ttpal	A	G	2: 163,457,308 (GRCm39)	N260S	probably benign	Het
Vwa2	A	G	19: 56,890,668 (GRCm39)	D233G	probably benign	Het
Zfp277	A	T	12: 40,378,795 (GRCm39)	L354*	probably null	Het
Zfp516	A	G	18: 82,973,858 (GRCm39)	R19G	probably benign	Het

Other mutations in Wdr83

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Wdr83	APN	8	85,806,443 (GRCm39)	missense	probably damaging	1.00
IGL01671:Wdr83	APN	8	85,802,448 (GRCm39)	unclassified	probably benign
IGL03293:Wdr83	APN	8	85,807,216 (GRCm39)	missense	probably benign	0.09
R0062:Wdr83	UTSW	8	85,806,456 (GRCm39)	missense	possibly damaging	0.67
R0062:Wdr83	UTSW	8	85,806,456 (GRCm39)	missense	possibly damaging	0.67
R3729:Wdr83	UTSW	8	85,806,968 (GRCm39)	missense	probably damaging	1.00
R4664:Wdr83	UTSW	8	85,806,680 (GRCm39)	unclassified	probably benign
R4758:Wdr83	UTSW	8	85,801,867 (GRCm39)	missense	probably benign	0.25
R5456:Wdr83	UTSW	8	85,806,837 (GRCm39)	missense	probably benign	0.00
R6687:Wdr83	UTSW	8	85,806,778 (GRCm39)	missense	probably benign	0.00
R7078:Wdr83	UTSW	8	85,802,680 (GRCm39)	missense	probably damaging	1.00
R7172:Wdr83	UTSW	8	85,806,453 (GRCm39)	missense	probably damaging	0.98
R7311:Wdr83	UTSW	8	85,802,890 (GRCm39)	missense	probably benign	0.21
R7349:Wdr83	UTSW	8	85,806,460 (GRCm39)	missense	possibly damaging	0.59
R7449:Wdr83	UTSW	8	85,806,310 (GRCm39)	missense	probably damaging	1.00
R7570:Wdr83	UTSW	8	85,806,463 (GRCm39)	missense	probably damaging	1.00
R9157:Wdr83	UTSW	8	85,806,432 (GRCm39)	missense	probably damaging	0.98

Posted On

2014-05-14