Mutagenetix > Incidental Mutation

Incidental Mutation 'R6400:Wdr70'

516140

Institutional Source

Beutler Lab

Gene Symbol

Wdr70

Ensembl Gene

ENSMUSG00000039828

Gene Name

WD repeat domain 70

Synonyms

4833422F06Rik

MMRRC Submission

044547-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R6400 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7902536-8128693 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8072322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 189 (S189T)

Ref Sequence

ENSEMBL: ENSMUSP00000037340 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045766
AA Change: S189T

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000037340
Gene: ENSMUSG00000039828
AA Change: S189T

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: 99.8%
10x: 99.0%
20x: 96.2%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,638,435 (GRCm39)	*160Q	probably null	Het
Aen	G	A	7: 78,557,142 (GRCm39)	G330E	probably benign	Het
Akap8l	G	A	17: 32,555,294 (GRCm39)	R262C	probably damaging	Het
Cbx8	G	A	11: 118,929,694 (GRCm39)	Q300*	probably null	Het
Cd274	C	T	19: 29,362,808 (GRCm39)	T290M	probably damaging	Het
Cd36	A	C	5: 18,019,721 (GRCm39)	S127A	probably damaging	Het
Celf3	A	G	3: 94,387,593 (GRCm39)	Y55C	probably damaging	Het
Clec1a	A	T	6: 129,412,316 (GRCm39)		probably null	Het
Cog2	A	T	8: 125,277,045 (GRCm39)	I684F	probably damaging	Het
Cyp2c65	C	T	19: 39,049,558 (GRCm39)	L29F	possibly damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Dytn	A	T	1: 63,680,335 (GRCm39)	L408*	probably null	Het
Flg	A	G	3: 93,187,228 (GRCm39)	T227A	probably benign	Het
Heatr4	T	A	12: 84,001,784 (GRCm39)	K887M	probably null	Het
Hoxb1	C	T	11: 96,256,818 (GRCm39)	Q56*	probably null	Het
Kcnh7	T	A	2: 62,569,688 (GRCm39)	N736I	probably damaging	Het
Lgr4	T	C	2: 109,821,478 (GRCm39)	V120A	probably damaging	Het
Ltbp1	A	G	17: 75,458,397 (GRCm39)	Y326C	possibly damaging	Het
Map3k1	A	T	13: 111,892,259 (GRCm39)	S999T	probably damaging	Het
Med12l	T	C	3: 59,155,332 (GRCm39)	F1171L	probably damaging	Het
Muc5b	T	C	7: 141,412,402 (GRCm39)	S1783P	unknown	Het
Nbr1	T	C	11: 101,456,600 (GRCm39)	L159P	probably damaging	Het
Nme9	T	C	9: 99,351,760 (GRCm39)	F248S	possibly damaging	Het
Or4x11	C	T	2: 89,867,739 (GRCm39)	L159F	probably benign	Het
Or6k2	T	C	1: 173,986,830 (GRCm39)	S164P	probably damaging	Het
Rasgrf1	C	T	9: 89,873,683 (GRCm39)	T664I	probably damaging	Het
Setx	A	G	2: 29,020,286 (GRCm39)	D91G	probably damaging	Het
Stim1	A	G	7: 102,080,157 (GRCm39)	R514G	probably null	Het
Svep1	C	A	4: 58,049,169 (GRCm39)	G3446V	probably damaging	Het
Tcte2	T	A	17: 13,942,714 (GRCm39)		probably benign	Het
Trmt10b	A	G	4: 45,308,562 (GRCm39)	K239E	probably damaging	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
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
R7056:Wdr70	UTSW	15	7,913,877 (GRCm39)	missense	possibly damaging	0.53
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'- GCCAAAAGCTAACCATGGAG -3'
(R):5'- TGGTTCACATGTGCAGGTGTAC -3'

Sequencing Primer
(F):5'- AGCTAACCATGGAGCTGTTAAG -3'
(R):5'- TTACTAAGCTGGAGCCCATTG -3'

Posted On

2018-05-04