Mutagenetix > Incidental Mutation

Incidental Mutation 'R5306:Wdr70'

404591

Institutional Source

Beutler Lab

Gene Symbol

Wdr70

Ensembl Gene

ENSMUSG00000039828

Gene Name

WD repeat domain 70

Synonyms

4833422F06Rik

MMRRC Submission

042889-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R5306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7902536-8128693 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7953754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 379 (D379G)

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: D379G

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000037340
Gene: ENSMUSG00000039828
AA Change: D379G

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

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	A	8: 56,324,792 (GRCm39)	D554V	probably damaging	Het
Ankrd44	G	A	1: 54,965,362 (GRCm39)		probably benign	Het
Api5	A	T	2: 94,253,811 (GRCm39)	C297*	probably null	Het
Asb14	G	A	14: 26,633,866 (GRCm39)	C357Y	probably damaging	Het
Brd10	A	G	19: 29,707,230 (GRCm39)		probably benign	Het
Brdt	T	A	5: 107,493,010 (GRCm39)	D112E	probably damaging	Het
Capsl	C	A	15: 9,457,876 (GRCm39)	Q32K	probably benign	Het
Ccdc106	A	G	7: 5,061,096 (GRCm39)	D81G	probably damaging	Het
Ccdc121rt3	T	C	5: 112,502,910 (GRCm39)	R265G	probably benign	Het
Cep104	C	A	4: 154,090,699 (GRCm39)	T884K	probably benign	Het
Cmbl	T	C	15: 31,582,215 (GRCm39)	Y71H	probably damaging	Het
Crybg3	A	T	16: 59,380,356 (GRCm39)		probably benign	Het
Dynlt1c	T	C	17: 6,869,210 (GRCm39)	M1T	probably null	Het
Erbb2	T	C	11: 98,319,032 (GRCm39)	S574P	probably benign	Het
Exosc10	T	C	4: 148,646,849 (GRCm39)	V153A	probably benign	Het
Faxc	G	T	4: 21,931,557 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,791,243 (GRCm39)	T835A	probably damaging	Het
Fmo5	G	T	3: 97,549,076 (GRCm39)	M241I	probably benign	Het
Gabra1	A	C	11: 42,024,379 (GRCm39)	I432S	probably benign	Het
Gfap	A	G	11: 102,786,574 (GRCm39)		probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm12185	T	A	11: 48,806,382 (GRCm39)	M270L	probably benign	Het
Gm14443	T	C	2: 175,011,372 (GRCm39)	N358S	possibly damaging	Het
Gpr3	C	T	4: 132,938,490 (GRCm39)	V61M	probably damaging	Het
Herc2	C	T	7: 55,834,709 (GRCm39)	T3229M	probably damaging	Het
Ifit3	A	G	19: 34,565,207 (GRCm39)	Y251C	probably damaging	Het
Inf2	G	A	12: 112,567,987 (GRCm39)	V180I	probably benign	Het
Ints11	T	C	4: 155,959,665 (GRCm39)	Y91H	probably damaging	Het
Ints4	A	C	7: 97,158,885 (GRCm39)	D419A	probably damaging	Het
Kmt2e	T	C	5: 23,704,331 (GRCm39)	S1175P	probably damaging	Het
Mki67	A	T	7: 135,315,730 (GRCm39)	V44E	probably damaging	Het
Mrgprb13	A	T	7: 47,961,940 (GRCm39)		noncoding transcript	Het
Myh2	T	C	11: 67,077,382 (GRCm39)	L839P	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or4l1	A	G	14: 50,167,007 (GRCm39)		probably benign	Het
Or6c70	A	C	10: 129,709,810 (GRCm39)	I272R	probably damaging	Het
Pced1a	T	A	2: 130,261,091 (GRCm39)	H422L	probably benign	Het
Plpp1	G	T	13: 112,988,089 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,183,056 (GRCm39)	Y949C	probably damaging	Het
Polg2	G	A	11: 106,669,796 (GRCm39)	T158I	probably damaging	Het
Prss38	A	T	11: 59,263,821 (GRCm39)	I297K	probably benign	Het
Psph	A	G	5: 129,846,431 (GRCm39)	L98P	probably damaging	Het
Rab11b	G	A	17: 33,979,243 (GRCm39)		probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Serpine3	G	A	14: 62,908,382 (GRCm39)	A137T	probably damaging	Het
Sh3bp4	T	C	1: 89,071,997 (GRCm39)	F282L	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Slco2b1	T	A	7: 99,338,198 (GRCm39)	Y109F	possibly damaging	Het
Slfn10-ps	T	A	11: 82,926,355 (GRCm39)		noncoding transcript	Het
Smc5	A	G	19: 23,237,009 (GRCm39)		probably null	Het
Smyd4	A	G	11: 75,292,984 (GRCm39)	N638S	probably benign	Het
Stxbp5	T	C	10: 9,675,735 (GRCm39)	E628G	probably damaging	Het
Tmem236	A	T	2: 14,223,975 (GRCm39)	K255*	probably null	Het
Ttc29	T	A	8: 78,978,539 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,087,222 (GRCm39)	I430T	probably damaging	Het
Uckl1	A	G	2: 181,216,160 (GRCm39)		probably null	Het
Vmn2r52	A	C	7: 9,904,672 (GRCm39)	I389R	possibly damaging	Het
Wdr62	A	T	7: 29,964,688 (GRCm39)	F352Y	possibly damaging	Het
Zfp408	T	A	2: 91,476,690 (GRCm39)	M155L	probably benign	Het
Zfp459	T	A	13: 67,561,249 (GRCm39)	Q66H	probably damaging	Het
Zfp870	C	A	17: 33,102,627 (GRCm39)	G234V	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
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
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'- TGCTGCCAAGTTGAAAACACG -3'
(R):5'- CCTGCTAAGACTTATCTCTGTTAAAGC -3'

Sequencing Primer
(F):5'- ACGTTTTCATCATCATCATCAGACTG -3'
(R):5'- GCAAGTAAAATTTGTTAGAGCCTTTC -3'

Posted On

2016-07-22