Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01671:Wdr83'

103502

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 #

IGL01671

Quality Score

Status

Chromosome

Chromosomal Location

85801664-85807375 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 85802448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120308 (fasta)

Gene Model

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

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

SMART Domains

Protein: ENSMUSP00000091048
Gene: ENSMUSG00000005150

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

noncoding transcript
Transcript: ENSMUST00000145880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142422

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142201

Predicted Effect

probably benign
Transcript: ENSMUST00000152785

SMART Domains

Protein: ENSMUSP00000122127
Gene: ENSMUSG00000005150

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

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

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc7	C	T	5: 107,131,111 (GRCm39)	P529S	probably damaging	Het
Defb45	T	C	2: 152,435,331 (GRCm39)	K26E	probably benign	Het
Dnajb8	T	C	6: 88,199,902 (GRCm39)	L146S	probably benign	Het
Egln1	T	C	8: 125,637,454 (GRCm39)	D399G	probably benign	Het
Ephb1	A	T	9: 101,873,986 (GRCm39)	C563S	probably damaging	Het
Gad2	T	A	2: 22,513,711 (GRCm39)	Y49*	probably null	Het
Gga2	A	G	7: 121,594,079 (GRCm39)	S470P	probably benign	Het
Gm21276	G	T	7: 38,464,151 (GRCm39)		noncoding transcript	Het
Gm3115	G	A	14: 4,084,189 (GRCm38)	C9Y	probably benign	Het
H2-M1	T	C	17: 36,981,330 (GRCm39)	E235G	probably damaging	Het
Hjv	T	C	3: 96,435,807 (GRCm39)	V355A	probably damaging	Het
Hsp90b1	C	T	10: 86,540,189 (GRCm39)	G41S	probably benign	Het
Mccc1	T	C	3: 36,018,609 (GRCm39)	D575G	probably benign	Het
Metap2	T	C	10: 93,707,340 (GRCm39)		probably benign	Het
Myh7	T	C	14: 55,210,381 (GRCm39)	T1775A	probably damaging	Het
Or2aj5	A	G	16: 19,424,671 (GRCm39)	I249T	probably benign	Het
Or5b3	T	A	19: 13,388,255 (GRCm39)	F107L	probably benign	Het
Or8g21	A	G	9: 38,906,149 (GRCm39)	V194A	probably benign	Het
Pak5	T	C	2: 135,958,293 (GRCm39)	D265G	possibly damaging	Het
Pex1	A	G	5: 3,674,088 (GRCm39)	I793V	probably benign	Het
Prkdc	A	G	16: 15,485,609 (GRCm39)	I479V	possibly damaging	Het
Rhcg	A	C	7: 79,248,299 (GRCm39)	I435S	probably benign	Het
Slc9c1	A	T	16: 45,380,678 (GRCm39)	T535S	probably benign	Het
Stab2	T	C	10: 86,805,141 (GRCm39)	D279G	possibly damaging	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
IGL02081:Wdr83	APN	8	85,802,472 (GRCm39)	missense	probably benign	0.08
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

2014-01-21