Mutagenetix > Incidental Mutation

Incidental Mutation 'R5456:Wdr83'

432757

Institutional Source

Beutler Lab

Gene Symbol

Wdr83

Ensembl Gene

ENSMUSG00000005150

Gene Name

WD repeat domain containing 83

Synonyms

Morg1, 1500041N16Rik

MMRRC Submission

043019-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5456 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85801664-85807375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85806837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 81 (H81R)

Ref Sequence

ENSEMBL: ENSMUSP00000122127 (fasta)

Gene Model

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

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: 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: H81R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091048
Gene: ENSMUSG00000005150
AA Change: H81R

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: ENSMUST00000135463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136696

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: ENSMUST00000149050
AA Change: H81R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121568
Gene: ENSMUSG00000005150
AA Change: H81R

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: H81R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122127
Gene: ENSMUSG00000005150
AA Change: H81R

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: ENSMUST00000145880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146900

Predicted Effect

probably benign
Transcript: ENSMUST00000209264

Predicted Effect

probably benign
Transcript: ENSMUST00000209361

Predicted Effect

probably benign
Transcript: ENSMUST00000142201

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,889,759 (GRCm39)	D37G	probably damaging	Het
Adcy5	T	C	16: 35,118,892 (GRCm39)	F1081S	probably damaging	Het
Apmap	T	A	2: 150,431,989 (GRCm39)	I128L	probably benign	Het
Arhgap12	G	A	18: 6,112,170 (GRCm39)	Q65*	probably null	Het
Baat	C	T	4: 49,502,949 (GRCm39)	V58I	possibly damaging	Het
Bco2	T	C	9: 50,456,644 (GRCm39)		probably null	Het
Bend3	T	C	10: 43,386,542 (GRCm39)	Y312H	probably damaging	Het
Btnl2	A	T	17: 34,582,295 (GRCm39)	Y287F	probably benign	Het
Cd22	T	C	7: 30,575,464 (GRCm39)	I193V	probably benign	Het
Commd3	A	G	2: 18,678,968 (GRCm39)	E95G	probably damaging	Het
Dcbld1	A	G	10: 52,190,486 (GRCm39)	D215G	probably damaging	Het
Elfn1	A	G	5: 139,958,571 (GRCm39)	Y525C	probably damaging	Het
Fam83b	T	C	9: 76,399,877 (GRCm39)	T409A	probably benign	Het
Fshr	T	A	17: 89,293,776 (GRCm39)	I301F	probably benign	Het
Hemgn	C	T	4: 46,396,571 (GRCm39)	V222M	probably damaging	Het
Igsf3	C	T	3: 101,334,537 (GRCm39)	H205Y	probably benign	Het
Mfsd1	T	C	3: 67,497,166 (GRCm39)	I147T	probably benign	Het
Mslnl	A	G	17: 25,962,133 (GRCm39)	D177G	probably damaging	Het
Nat2	G	A	8: 67,954,225 (GRCm39)	V112I	probably damaging	Het
Or4c10b	G	A	2: 89,711,602 (GRCm39)	G144E	probably damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pabpc1l	T	C	2: 163,869,580 (GRCm39)	S127P	probably damaging	Het
Poln	A	T	5: 34,164,786 (GRCm39)	L845Q	possibly damaging	Het
Ppm1f	T	A	16: 16,741,610 (GRCm39)	D361E	probably damaging	Het
Rapgef5	T	A	12: 117,692,381 (GRCm39)		probably null	Het
Rarb	G	A	14: 16,436,843 (GRCm38)	T226I	probably damaging	Het
Sel1l3	T	C	5: 53,357,378 (GRCm39)	K205E	probably benign	Het
Sh3glb1	T	A	3: 144,415,114 (GRCm39)	I75L	probably benign	Het
Srgap1	G	A	10: 121,705,716 (GRCm39)	S236L	probably benign	Het
Tmco3	A	G	8: 13,369,815 (GRCm39)	Y609C	probably damaging	Het
Trhde	A	G	10: 114,322,665 (GRCm39)	V712A	possibly damaging	Het
Trim13	A	G	14: 61,842,523 (GRCm39)	D180G	possibly damaging	Het
Tst	T	C	15: 78,284,158 (GRCm39)	E223G	probably damaging	Het
Umodl1	A	G	17: 31,201,263 (GRCm39)	I397M	probably benign	Het
Usp31	T	C	7: 121,269,500 (GRCm39)	D481G	probably damaging	Het
Vps13c	T	A	9: 67,834,729 (GRCm39)	M1686K	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACGGTATACTAGATGGGCACAATG -3'
(R):5'- ACCCTAAAGCTGTGGAACCC -3'

Sequencing Primer
(F):5'- AGACTGTGATGGAAGGATCTTC -3'
(R):5'- GTGGAACCCGCTGCGTG -3'

Posted On

2016-10-06