Mutagenetix > Incidental Mutation

Incidental Mutation 'R7056:Wdr70'

547945

Institutional Source

Beutler Lab

Gene Symbol

Wdr70

Ensembl Gene

ENSMUSG00000039828

Gene Name

WD repeat domain 70

Synonyms

4833422F06Rik

MMRRC Submission

045153-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7902536-8128693 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7913877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 591 (I591F)

Ref Sequence

ENSEMBL: ENSMUSP00000037340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045766]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045766
AA Change: I591F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037340
Gene: ENSMUSG00000039828
AA Change: I591F

Domain	Start	End	E-Value	Type
coiled coil region	51	81	N/A	INTRINSIC
low complexity region	137	167	N/A	INTRINSIC
WD40	174	213	1.61e-3	SMART
WD40	220	260	3.2e0	SMART
WD40	272	315	1.03e0	SMART
WD40	324	363	1.7e-2	SMART
WD40	367	409	1.38e-2	SMART
Blast:WD40	413	460	5e-16	BLAST
WD40	463	502	3.44e0	SMART
low complexity region	570	586	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	T	A	9: 95,744,916 (GRCm39)	S78T	probably damaging	Het
B2m	T	C	2: 121,981,465 (GRCm39)	L60P	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cep350	A	C	1: 155,724,373 (GRCm39)	I3075S	probably damaging	Het
Cep97	A	G	16: 55,725,935 (GRCm39)	S651P	probably damaging	Het
Chrna5	C	T	9: 54,888,985 (GRCm39)		probably benign	Het
Cog5	T	C	12: 31,715,468 (GRCm39)	V80A	possibly damaging	Het
Col9a2	G	A	4: 120,906,913 (GRCm39)		probably null	Het
Cop1	C	T	1: 159,077,647 (GRCm39)	L161F	probably damaging	Het
Cyp4f17	A	T	17: 32,746,846 (GRCm39)	M383L	possibly damaging	Het
Dennd4a	A	G	9: 64,814,205 (GRCm39)	D1474G	possibly damaging	Het
Dgkb	A	C	12: 38,150,492 (GRCm39)	S100R	probably benign	Het
Dnah17	A	G	11: 118,016,212 (GRCm39)	V309A	probably benign	Het
Dner	C	A	1: 84,558,457 (GRCm39)	R169L	possibly damaging	Het
Dus1l	T	C	11: 120,682,120 (GRCm39)	E362G	probably benign	Het
Eed	A	T	7: 89,619,564 (GRCm39)	S168T	possibly damaging	Het
Eif3a	T	A	19: 60,751,500 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,205,450 (GRCm39)	S472G	probably benign	Het
Fbn2	T	A	18: 58,209,798 (GRCm39)	T1028S	probably benign	Het
Fbxw16	A	G	9: 109,265,352 (GRCm39)	V393A	possibly damaging	Het
Fig4	A	T	10: 41,096,928 (GRCm39)	L838Q	probably benign	Het
Gm13941	T	G	2: 110,927,147 (GRCm39)	S137R	unknown	Het
Gm9938	T	G	19: 23,701,981 (GRCm39)		probably benign	Het
Igsf10	T	G	3: 59,238,501 (GRCm39)	D560A	probably damaging	Het
Lrrk2	T	A	15: 91,659,198 (GRCm39)	L1870*	probably null	Het
Mep1b	T	A	18: 21,224,247 (GRCm39)	Y347N	probably damaging	Het
Mepce	T	C	5: 137,780,968 (GRCm39)	N613D	probably damaging	Het
Mgat3	T	G	15: 80,096,097 (GRCm39)	L308R	probably damaging	Het
Morc2a	A	G	11: 3,625,925 (GRCm39)	Y175C	probably damaging	Het
Necab2	A	G	8: 120,178,878 (GRCm39)	N98S	probably benign	Het
Net1	T	C	13: 3,934,845 (GRCm39)	M394V	probably benign	Het
Nfat5	G	A	8: 108,094,738 (GRCm39)	G993D	probably damaging	Het
Obscn	C	A	11: 58,887,122 (GRCm39)		probably benign	Het
Olr1	T	C	6: 129,465,904 (GRCm39)	H34R	probably damaging	Het
Or2ab1	A	G	11: 58,489,044 (GRCm39)	Y274C	probably damaging	Het
Or4f60	T	C	2: 111,902,662 (GRCm39)	N89D	probably benign	Het
Pmm2	T	A	16: 8,460,628 (GRCm39)	F27L	probably damaging	Het
Ptpdc1	C	A	13: 48,740,466 (GRCm39)	V261F	possibly damaging	Het
Pyroxd1	G	T	6: 142,304,808 (GRCm39)	R345L	probably benign	Het
Radil	A	T	5: 142,480,109 (GRCm39)	C670*	probably null	Het
Rasgrf2	C	T	13: 92,167,203 (GRCm39)	S290N	probably damaging	Het
Rbm33	T	C	5: 28,599,001 (GRCm39)		probably benign	Het
Rnf111	A	T	9: 70,360,957 (GRCm39)	S501R	possibly damaging	Het
Sel1l2	T	A	2: 140,087,334 (GRCm39)	I446F	probably benign	Het
Sh3pxd2b	T	C	11: 32,372,737 (GRCm39)	S635P	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Smg1	T	C	7: 117,745,623 (GRCm39)		probably benign	Het
Sorcs2	C	A	5: 36,225,474 (GRCm39)	D132Y	probably damaging	Het
Sox18	T	C	2: 181,313,280 (GRCm39)	D12G	probably damaging	Het
Srsf4	G	T	4: 131,628,004 (GRCm39)		probably benign	Het
Susd4	C	A	1: 182,660,721 (GRCm39)	T81N	probably benign	Het
Tmem256	G	T	11: 69,729,416 (GRCm39)		probably benign	Het
Tor4a	T	C	2: 25,084,853 (GRCm39)	H350R	probably benign	Het
Ugt2a3	T	A	5: 87,484,953 (GRCm39)	S24C	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r77	C	T	7: 86,451,023 (GRCm39)	T303I	probably benign	Het
Wdr93	T	C	7: 79,399,088 (GRCm39)	I74T	probably damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm39)	C1087S	probably damaging	Het
Zfp592	T	A	7: 80,673,067 (GRCm39)	D10E	probably damaging	Het
Zfp69	A	G	4: 120,788,295 (GRCm39)	V340A	probably benign	Het
Zswim2	C	T	2: 83,751,092 (GRCm39)		probably null	Het

Other mutations in Wdr70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Wdr70	APN	15	8,049,088 (GRCm39)	missense	probably benign	0.07
IGL01121:Wdr70	APN	15	7,902,655 (GRCm39)	missense	possibly damaging	0.53
IGL01508:Wdr70	APN	15	8,108,747 (GRCm39)	missense	probably benign	0.33
IGL01801:Wdr70	APN	15	7,916,805 (GRCm39)	splice site	probably null
IGL01815:Wdr70	APN	15	7,916,805 (GRCm39)	splice site	probably null
IGL01929:Wdr70	APN	15	7,950,115 (GRCm39)	splice site	probably null
IGL02150:Wdr70	APN	15	8,112,030 (GRCm39)	missense	possibly damaging	0.72
IGL02245:Wdr70	APN	15	8,075,965 (GRCm39)	missense	possibly damaging	0.86
IGL02541:Wdr70	APN	15	7,913,783 (GRCm39)	nonsense	probably null
IGL02800:Wdr70	APN	15	8,111,980 (GRCm39)	missense	probably benign	0.25
IGL02829:Wdr70	APN	15	8,006,463 (GRCm39)	missense	possibly damaging	0.92
IGL02831:Wdr70	APN	15	7,913,787 (GRCm39)	missense	possibly damaging	0.86
IGL03169:Wdr70	APN	15	7,913,821 (GRCm39)	missense	possibly damaging	0.73
IGL03405:Wdr70	APN	15	8,065,352 (GRCm39)	missense	possibly damaging	0.73
R0106:Wdr70	UTSW	15	8,049,068 (GRCm39)	critical splice donor site	probably null
R0106:Wdr70	UTSW	15	8,049,068 (GRCm39)	critical splice donor site	probably null
R0462:Wdr70	UTSW	15	8,108,645 (GRCm39)	missense	probably benign	0.00
R0539:Wdr70	UTSW	15	7,915,118 (GRCm39)	missense	possibly damaging	0.96
R1398:Wdr70	UTSW	15	8,065,325 (GRCm39)	missense	probably benign	0.01
R1812:Wdr70	UTSW	15	8,108,663 (GRCm39)	missense	probably benign	0.00
R1863:Wdr70	UTSW	15	7,950,054 (GRCm39)	missense	probably benign	0.25
R1913:Wdr70	UTSW	15	7,913,891 (GRCm39)	missense	possibly damaging	0.72
R2425:Wdr70	UTSW	15	7,916,840 (GRCm39)	nonsense	probably null
R4013:Wdr70	UTSW	15	8,108,698 (GRCm39)	nonsense	probably null
R4015:Wdr70	UTSW	15	8,108,698 (GRCm39)	nonsense	probably null
R4017:Wdr70	UTSW	15	8,108,698 (GRCm39)	nonsense	probably null
R4111:Wdr70	UTSW	15	8,006,472 (GRCm39)	missense	probably benign	0.32
R5241:Wdr70	UTSW	15	8,108,700 (GRCm39)	missense	probably benign
R5277:Wdr70	UTSW	15	8,006,465 (GRCm39)	nonsense	probably null
R5306:Wdr70	UTSW	15	7,953,754 (GRCm39)	missense	probably benign	0.04
R5426:Wdr70	UTSW	15	7,951,586 (GRCm39)	missense	possibly damaging	0.59
R5586:Wdr70	UTSW	15	7,913,769 (GRCm39)	missense	possibly damaging	0.86
R6010:Wdr70	UTSW	15	7,916,900 (GRCm39)	splice site	probably null
R6035:Wdr70	UTSW	15	7,916,830 (GRCm39)	missense	possibly damaging	0.86
R6035:Wdr70	UTSW	15	7,916,830 (GRCm39)	missense	possibly damaging	0.86
R6109:Wdr70	UTSW	15	8,108,638 (GRCm39)	splice site	probably null
R6139:Wdr70	UTSW	15	8,108,735 (GRCm39)	missense	probably benign	0.04
R6400:Wdr70	UTSW	15	8,072,322 (GRCm39)	missense	probably benign	0.32
R6456:Wdr70	UTSW	15	7,915,118 (GRCm39)	missense	possibly damaging	0.96
R6518:Wdr70	UTSW	15	8,108,821 (GRCm39)	missense	unknown
R7036:Wdr70	UTSW	15	7,913,855 (GRCm39)	missense	possibly damaging	0.85
R7341:Wdr70	UTSW	15	7,953,725 (GRCm39)	missense	possibly damaging	0.71
R7484:Wdr70	UTSW	15	7,951,562 (GRCm39)	missense	probably benign	0.23
R7572:Wdr70	UTSW	15	8,065,327 (GRCm39)	missense	possibly damaging	0.85
R7652:Wdr70	UTSW	15	8,108,700 (GRCm39)	missense	probably benign
R7886:Wdr70	UTSW	15	8,108,733 (GRCm39)	missense	probably benign	0.02
R8103:Wdr70	UTSW	15	8,006,612 (GRCm39)	missense	possibly damaging	0.70
R8214:Wdr70	UTSW	15	7,916,851 (GRCm39)	missense	probably benign	0.03
R8252:Wdr70	UTSW	15	8,072,337 (GRCm39)	splice site	probably benign
R8869:Wdr70	UTSW	15	8,123,210 (GRCm39)	missense	probably benign	0.02
R9203:Wdr70	UTSW	15	7,902,684 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCCATTCTTTGTGCTCAAATAG -3'
(R):5'- GATGGCTCTTAGCTTTGACAAC -3'

Sequencing Primer
(F):5'- AGTGCCTTGATGACTAAGCC -3'
(R):5'- GGCTCTTAGCTTTGACAACACAAG -3'

Posted On

2019-05-13