Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00495:Wdr83'

4997

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 #

IGL00495

Quality Score

Status

Chromosome

Chromosomal Location

85801664-85807375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85806443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 118 (N118K)

Ref Sequence

ENSEMBL: ENSMUSP00000091048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034121] [ENSMUST00000078665] [ENSMUST00000079764] [ENSMUST00000093357] [ENSMUST00000209361] [ENSMUST00000209264] [ENSMUST00000152785] [ENSMUST00000149050] [ENSMUST00000140621] [ENSMUST00000152871]

AlphaFold

Q9DAJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000034121

SMART Domains

Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142

Domain	Start	End	E-Value	Type
low complexity region	40	51	N/A	INTRINSIC
Pfam:Glyco_hydro_38	64	381	2.7e-96	PFAM
Alpha-mann_mid	386	465	4.25e-23	SMART
Pfam:Glyco_hydro_38C	510	1002	6.2e-106	PFAM

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 damaging
Transcript: ENSMUST00000093357
AA Change: N118K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091048
Gene: ENSMUSG00000005150
AA Change: N118K

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: ENSMUST00000131909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210991

Predicted Effect

probably benign
Transcript: ENSMUST00000209361

Predicted Effect

probably benign
Transcript: ENSMUST00000209264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145880

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142201

Predicted Effect

probably benign
Transcript: ENSMUST00000140621

SMART Domains

Protein: ENSMUSP00000117962
Gene: ENSMUSG00000059355

Domain	Start	End	E-Value	Type
Pfam:UPF0139	5	88	1.4e-37	PFAM

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

noncoding transcript
Transcript: ENSMUST00000211379

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankk1	T	C	9: 49,327,143 (GRCm39)	T679A	probably benign	Het
Bhlhe40	T	A	6: 108,638,139 (GRCm39)	M33K	probably benign	Het
Cacna2d1	T	C	5: 16,575,607 (GRCm39)	S1059P	probably benign	Het
Cdkn1a	C	A	17: 29,317,494 (GRCm39)	A38E	possibly damaging	Het
Chrm2	A	T	6: 36,500,355 (GRCm39)	I71F	possibly damaging	Het
Cntnap5c	A	G	17: 58,469,272 (GRCm39)	Q618R	probably benign	Het
Cog5	T	A	12: 31,887,308 (GRCm39)	N476K	probably benign	Het
Dhx36	G	A	3: 62,377,979 (GRCm39)		probably benign	Het
Dnajb8	G	T	6: 88,199,836 (GRCm39)	R124L	possibly damaging	Het
Dnajc16	A	T	4: 141,490,874 (GRCm39)		probably null	Het
Dzip1	T	C	14: 119,120,806 (GRCm39)	D717G	probably benign	Het
Eps15	G	T	4: 109,166,346 (GRCm39)	V80L	probably damaging	Het
Fmn1	G	A	2: 113,274,812 (GRCm39)		probably benign	Het
Gm12185	A	G	11: 48,798,688 (GRCm39)	S602P	probably damaging	Het
Gm28539	T	G	16: 18,773,530 (GRCm39)		probably benign	Het
Grm3	T	C	5: 9,562,290 (GRCm39)	N520S	probably benign	Het
Hivep2	A	G	10: 14,017,988 (GRCm39)	N1825S	probably damaging	Het
Igfbp2	A	G	1: 72,888,287 (GRCm39)	H143R	probably benign	Het
Igsf8	T	G	1: 172,145,111 (GRCm39)	V146G	possibly damaging	Het
Kif13b	T	G	14: 64,951,562 (GRCm39)	S68A	probably benign	Het
Lrrc15	T	A	16: 30,092,848 (GRCm39)	I164F	possibly damaging	Het
Mrrf	G	A	2: 36,031,643 (GRCm39)	R53H	possibly damaging	Het
Ms4a6d	G	A	19: 11,579,249 (GRCm39)	T76I	probably damaging	Het
Pkd1l1	T	C	11: 8,818,493 (GRCm39)	R1332G	probably benign	Het
Plekha1	A	G	7: 130,479,569 (GRCm39)	Y29C	probably damaging	Het
Pnliprp1	A	T	19: 58,723,162 (GRCm39)	H221L	probably damaging	Het
Pomt2	T	C	12: 87,171,630 (GRCm39)	D380G	probably damaging	Het
Ppm1f	C	A	16: 16,728,835 (GRCm39)	T79N	possibly damaging	Het
Ppp4r3b	A	C	11: 29,161,782 (GRCm39)	T719P	possibly damaging	Het
Socs4	G	A	14: 47,527,709 (GRCm39)	V215I	probably benign	Het
Spg11	A	G	2: 121,924,937 (GRCm39)		probably null	Het
Stk31	T	A	6: 49,414,377 (GRCm39)	C459S	probably benign	Het
Ttn	A	G	2: 76,539,546 (GRCm39)	V26153A	possibly damaging	Het
Twf1	C	T	15: 94,478,817 (GRCm39)		probably benign	Het
Vrk3	A	T	7: 44,419,071 (GRCm39)	K383M	probably damaging	Het

Other mutations in Wdr83

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01671:Wdr83	APN	8	85,802,448 (GRCm39)	unclassified	probably benign
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

2012-04-20