Mutagenetix > Incidental Mutation

Incidental Mutation 'R0062:Wdr83'

46627

Institutional Source

Beutler Lab

Gene Symbol

Wdr83

Ensembl Gene

ENSMUSG00000005150

Gene Name

WD repeat domain containing 83

Synonyms

Morg1, 1500041N16Rik

MMRRC Submission

038354-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85801664-85807375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85806456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 114 (T114I)

Ref Sequence

ENSEMBL: ENSMUSP00000091048 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000093357
AA Change: T114I

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091048
Gene: ENSMUSG00000005150
AA Change: T114I

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: ENSMUST00000148592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210991

Predicted Effect

probably benign
Transcript: ENSMUST00000209264

Predicted Effect

probably benign
Transcript: ENSMUST00000209361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142422

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: 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: 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: ENSMUST00000211379

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (70/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	T	10: 120,614,511 (GRCm39)		probably benign	Het
4930407I10Rik	T	A	15: 81,947,267 (GRCm39)	I388K	probably benign	Het
4930407I10Rik	T	A	15: 81,950,504 (GRCm39)	V1467D	probably damaging	Het
Abi2	T	A	1: 60,492,884 (GRCm39)	N182K	probably benign	Het
Adam25	A	T	8: 41,207,829 (GRCm39)	H365L	probably damaging	Het
Ankfy1	T	A	11: 72,603,030 (GRCm39)	Y20N	probably damaging	Het
Aqp11	C	T	7: 97,387,068 (GRCm39)	V43M	probably benign	Het
Arhgef10l	A	T	4: 140,279,843 (GRCm39)	L503Q	probably damaging	Het
Arhgef28	A	T	13: 98,093,150 (GRCm39)	I977N	possibly damaging	Het
Cacna1b	A	G	2: 24,648,343 (GRCm39)	Y161H	probably damaging	Het
Cacna1c	T	C	6: 118,579,198 (GRCm39)	D1480G	probably damaging	Het
Clk3	A	G	9: 57,659,449 (GRCm39)	M533T	probably damaging	Het
Cnbd1	A	G	4: 18,860,504 (GRCm39)	I414T	possibly damaging	Het
Commd3	A	T	2: 18,679,514 (GRCm39)		probably null	Het
Crybg1	G	T	10: 43,873,902 (GRCm39)	Q1069K	probably damaging	Het
Dnah8	T	A	17: 30,984,685 (GRCm39)	F3128I	probably damaging	Het
Dnmt3b	C	T	2: 153,514,192 (GRCm39)	P382S	probably benign	Het
Dock1	A	G	7: 134,379,224 (GRCm39)		probably null	Het
Dpysl3	C	T	18: 43,466,941 (GRCm39)		probably null	Het
Ebf2	T	A	14: 67,475,989 (GRCm39)		probably benign	Het
F830045P16Rik	T	C	2: 129,305,624 (GRCm39)	E250G	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fetub	T	C	16: 22,747,836 (GRCm39)		probably benign	Het
Fmn2	A	T	1: 174,436,015 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,179,621 (GRCm39)	I2929V	probably benign	Het
Gm11232	T	A	4: 71,675,112 (GRCm39)	Q130L	possibly damaging	Het
Gm9637	G	T	14: 19,402,570 (GRCm38)		noncoding transcript	Het
Gna15	A	G	10: 81,348,239 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,462,198 (GRCm39)		probably benign	Het
Irs2	G	A	8: 11,055,723 (GRCm39)	T903I	possibly damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Izumo1	A	G	7: 45,276,621 (GRCm39)	T395A	probably benign	Het
Kcnd2	G	A	6: 21,727,225 (GRCm39)	V593M	possibly damaging	Het
Kprp	T	C	3: 92,731,989 (GRCm39)	S354G	probably damaging	Het
Krt72	T	C	15: 101,694,443 (GRCm39)	K151E	probably damaging	Het
Letm2	A	T	8: 26,077,464 (GRCm39)		probably benign	Het
Lipe	A	G	7: 25,097,874 (GRCm39)	V23A	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mef2c	A	G	13: 83,800,992 (GRCm39)	N231D	possibly damaging	Het
Mtdh	T	A	15: 34,134,426 (GRCm39)		probably benign	Het
Mthfd1	G	A	12: 76,344,363 (GRCm39)		probably benign	Het
Nbeal1	C	A	1: 60,286,876 (GRCm39)	N899K	probably benign	Het
Noc3l	T	C	19: 38,803,253 (GRCm39)	S129G	probably benign	Het
Odad2	T	A	18: 7,129,593 (GRCm39)		probably benign	Het
Or10ak14	T	C	4: 118,611,100 (GRCm39)	I212V	probably benign	Het
Or2aj6	T	C	16: 19,443,167 (GRCm39)	M228V	probably benign	Het
Or4c118	T	C	2: 88,974,966 (GRCm39)	I134V	possibly damaging	Het
Or8b1c	T	A	9: 38,384,554 (GRCm39)	D170E	probably benign	Het
Pik3r6	T	A	11: 68,419,635 (GRCm39)	Y149N	probably damaging	Het
Pja2	C	A	17: 64,615,966 (GRCm39)	V310L	probably damaging	Het
Plcd3	G	A	11: 102,965,720 (GRCm39)	A504V	probably benign	Het
Rint1	G	A	5: 23,992,826 (GRCm39)		probably benign	Het
Ripor3	A	G	2: 167,826,358 (GRCm39)		probably benign	Het
Rpa2	C	A	4: 132,505,125 (GRCm39)	N251K	probably damaging	Het
Rttn	T	C	18: 89,029,090 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,884,002 (GRCm39)		probably null	Het
Scara3	T	C	14: 66,168,417 (GRCm39)	N400S	probably damaging	Het
Slc7a6	G	T	8: 106,916,263 (GRCm39)	V180L	possibly damaging	Het
Slc7a6	T	A	8: 106,916,264 (GRCm39)	V180E	probably damaging	Het
Slc8b1	T	A	5: 120,659,928 (GRCm39)		probably null	Het
Slco1a4	G	A	6: 141,765,205 (GRCm39)	Q346*	probably null	Het
Stk32b	A	G	5: 37,618,792 (GRCm39)	S229P	probably damaging	Het
Syde2	A	G	3: 145,704,508 (GRCm39)	R487G	probably benign	Het
Tbc1d2b	T	C	9: 90,104,355 (GRCm39)		probably benign	Het
Ticrr	T	C	7: 79,317,654 (GRCm39)	V396A	probably benign	Het
Trrap	T	C	5: 144,719,003 (GRCm39)		probably benign	Het
Vmn1r124	A	T	7: 20,993,743 (GRCm39)	I267K	probably benign	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Wdr36	T	G	18: 32,997,802 (GRCm39)	V820G	possibly damaging	Het
Zc3h7a	T	C	16: 10,957,011 (GRCm39)	N866S	probably damaging	Het
Zfc3h1	A	G	10: 115,252,658 (GRCm39)	K1324E	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTAGTGTTTGCACCGGCTCAG -3'
(R):5'- TATTAGCCCGTAGGTGGTACGAGG -3'

Sequencing Primer
(F):5'- TCAGGCTTCCGAGAACGAC -3'
(R):5'- GGTACGAGGAAGATCCTTCCATC -3'

Posted On

2013-06-11