Mutagenetix > Incidental Mutation

Incidental Mutation 'R6687:Wdr83'

527829

Institutional Source

Beutler Lab

Gene Symbol

Wdr83

Ensembl Gene

ENSMUSG00000005150

Gene Name

WD repeat domain containing 83

Synonyms

Morg1, 1500041N16Rik

MMRRC Submission

044805-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6687 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85801664-85807375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85806778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 101 (V101I)

Ref Sequence

ENSEMBL: ENSMUSP00000122127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034121] [ENSMUST00000078665] [ENSMUST00000079764] [ENSMUST00000093357] [ENSMUST00000149050] [ENSMUST00000152785] [ENSMUST00000209264] [ENSMUST00000209361] [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 benign
Transcript: ENSMUST00000093357
AA Change: V101I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000091048
Gene: ENSMUSG00000005150
AA Change: V101I

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

probably benign
Transcript: ENSMUST00000149050
AA Change: V101I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000121568
Gene: ENSMUSG00000005150
AA Change: V101I

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: ENSMUST00000152785
AA Change: V101I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000122127
Gene: ENSMUSG00000005150
AA Change: V101I

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: ENSMUST00000142201

Predicted Effect

probably benign
Transcript: ENSMUST00000209264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152186

Predicted Effect

probably benign
Transcript: ENSMUST00000209361

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

noncoding transcript
Transcript: ENSMUST00000146900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145880

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

noncoding transcript
Transcript: ENSMUST00000211379

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (33/33)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,248,392 (GRCm39)	V688A	probably benign	Het
AI661453	A	G	17: 47,777,927 (GRCm39)		probably benign	Het
Atp6ap1l	A	G	13: 91,034,842 (GRCm39)	F180S	probably benign	Het
Cfd	G	A	10: 79,727,553 (GRCm39)	V77M	probably damaging	Het
Col5a2	A	T	1: 45,422,764 (GRCm39)	L1151H	probably damaging	Het
Dennd3	G	A	15: 73,428,215 (GRCm39)	V854M	possibly damaging	Het
Dlg5	C	T	14: 24,240,441 (GRCm39)	R247Q	probably damaging	Het
Fam3c	G	C	6: 22,328,669 (GRCm39)	P53A	probably benign	Het
Gpbp1	T	C	13: 111,574,619 (GRCm39)	N302D	possibly damaging	Het
Hmcn1	A	G	1: 150,620,784 (GRCm39)	V1142A	probably benign	Het
Ighv9-3	G	A	12: 114,104,544 (GRCm39)	S40F	probably damaging	Het
Insr	C	T	8: 3,248,111 (GRCm39)	R478H	probably benign	Het
Kcna2	C	A	3: 107,012,343 (GRCm39)	S308Y	probably damaging	Het
Larp1	A	G	11: 57,948,156 (GRCm39)	D985G	probably damaging	Het
Loxl3	A	T	6: 83,027,645 (GRCm39)	H729L	probably damaging	Het
Lrrc14b	T	C	13: 74,508,881 (GRCm39)	M509V	probably benign	Het
Lrrc8e	A	G	8: 4,284,798 (GRCm39)	Y341C	probably damaging	Het
Mettl18	A	G	1: 163,824,369 (GRCm39)	D230G	possibly damaging	Het
Mup12	T	C	4: 60,697,308 (GRCm39)		probably benign	Het
Myo1c	T	C	11: 75,563,027 (GRCm39)	S1020P	probably benign	Het
Or3a4	C	A	11: 73,945,210 (GRCm39)	R125L	probably damaging	Het
Phkb	T	C	8: 86,756,175 (GRCm39)	I823T	probably damaging	Het
Psmb5	C	A	14: 54,854,130 (GRCm39)	R116L	probably damaging	Het
Rpap2	T	C	5: 107,751,496 (GRCm39)		probably null	Het
Rpl38	T	C	11: 114,559,594 (GRCm39)		probably benign	Het
Scn8a	T	C	15: 100,872,508 (GRCm39)	F516L	probably benign	Het
Slc51a	A	T	16: 32,298,543 (GRCm39)	D71E	probably damaging	Het
Slco1a6	T	C	6: 142,045,076 (GRCm39)	E470G	possibly damaging	Het
Spag17	C	A	3: 100,000,266 (GRCm39)	H1811N	probably benign	Het
Sycp2	C	T	2: 177,996,753 (GRCm39)	C1150Y	probably damaging	Het
Ttc12	A	G	9: 49,349,718 (GRCm39)	V693A	probably benign	Het
Wnt3	G	T	11: 103,703,411 (GRCm39)	R298L	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- CATGTTAAAGCAAGGGCACATG -3'
(R):5'- GCTACGAAGTGCTAGATGCG -3'

Sequencing Primer
(F):5'- TGTTAAAGCAAGGGCACATGTTATAG -3'
(R):5'- AAGTGCTAGATGCGGCTGG -3'

Posted On

2018-07-23