Mutagenetix > Incidental Mutations

Incidental Mutation 'R7652:Wdr70'

590946

Institutional Source

Beutler Lab

Gene Symbol

Wdr70

Ensembl Gene

ENSMUSG00000039828

Gene Name

WD repeat domain 70

Synonyms

4833422F06Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R7652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7873055-8099209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8079216 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 149 (C149R)

Ref Sequence

ENSEMBL: ENSMUSP00000037340 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045766
AA Change: C149R

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

SMART Domains

Protein: ENSMUSP00000037340
Gene: ENSMUSG00000039828
AA Change: C149R

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,169,218		probably null	Het
Alb	G	C	5: 90,467,355	R242P	probably damaging	Het
Aph1b	T	C	9: 66,784,541	T195A	probably benign	Het
Apoe	G	T	7: 19,696,610	R236S	possibly damaging	Het
Arap3	G	T	18: 37,978,452	T1137K	probably damaging	Het
Arhgap45	C	T	10: 80,028,838	A908V	probably benign	Het
Atp13a1	T	C	8: 69,805,559	C965R	probably damaging	Het
C7	A	G	15: 5,012,105	Y440H	probably damaging	Het
Cacna2d2	T	C	9: 107,524,198		probably null	Het
Ddah2	C	A	17: 35,061,050	R173S	possibly damaging	Het
Dnajc11	T	C	4: 151,974,225	Y337H	probably damaging	Het
Dnajc25	A	G	4: 59,020,483	K302R	probably benign	Het
Dnajc6	A	T	4: 101,606,677	Q209L	probably damaging	Het
Drosha	G	A	15: 12,859,436	V577I	probably benign	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Ebf2	G	T	14: 67,390,567		probably null	Het
Epx	A	G	11: 87,875,334		probably null	Het
Eqtn	T	C	4: 94,928,337	Y73C	probably damaging	Het
Fam107b	A	G	2: 3,772,847	N21S	probably benign	Het
Fasn	G	A	11: 120,816,328	S857F	probably damaging	Het
Fat1	A	G	8: 44,953,299	N1029S	probably damaging	Het
Gas8	A	G	8: 123,526,536	I208V	probably benign	Het
Gm11127	A	T	17: 36,056,783	V221D	probably damaging	Het
Gm3269	T	C	14: 4,839,095	I88T	probably benign	Het
Gm36079	A	T	13: 120,026,993	S7T	possibly damaging	Het
Gm8005	C	A	14: 42,436,962	L136F		Het
Grid2ip	C	A	5: 143,382,638	P743Q	probably damaging	Het
Hbs1l	C	T	10: 21,364,760	T626I	probably benign	Het
Hdac3	T	A	18: 37,954,919		probably benign	Het
Hnrnpab	T	C	11: 51,605,573	Y94C	probably damaging	Het
Homer2	T	C	7: 81,649,666	D17G	probably damaging	Het
Ikbke	C	T	1: 131,271,832	R308Q	probably damaging	Het
Ints10	A	G	8: 68,825,119	T682A	possibly damaging	Het
Klhl3	G	A	13: 58,113,332		probably benign	Het
Klk9	A	T	7: 43,796,090	T235S	probably benign	Het
Kmt2c	T	C	5: 25,315,719	T1798A	probably benign	Het
Kri1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTCCTCCTC	9: 21,281,056		probably benign	Het
Krtap4-6	T	C	11: 99,665,614	I96V	unknown	Het
Lef1	A	C	3: 131,200,354	R354S	probably damaging	Het
Lrp6	A	T	6: 134,511,245	L296*	probably null	Het
Maml2	T	C	9: 13,621,649	Y720H		Het
Mmrn1	A	G	6: 60,977,506	N924D	probably benign	Het
Myh7b	A	G	2: 155,632,236	K1624E	probably damaging	Het
Nos3	T	A	5: 24,383,612	V1112D	probably damaging	Het
Olfr1136	A	G	2: 87,693,360	I174T	probably damaging	Het
Olfr1216	C	T	2: 89,013,549	V172I	probably benign	Het
Olfr1384	T	C	11: 49,513,685	F16L	probably damaging	Het
Olfr1437	C	A	19: 12,322,287	C180F	probably damaging	Het
Olfr814	A	T	10: 129,874,477	N93K	probably damaging	Het
Phospho1	T	C	11: 95,830,819	L105S	probably damaging	Het
Prss35	T	A	9: 86,755,970	N264K	probably benign	Het
Ptpn13	A	G	5: 103,529,712	D732G	probably benign	Het
Rab18	A	T	18: 6,783,123	T64S	possibly damaging	Het
Rft1	A	G	14: 30,677,816	Q319R	probably benign	Het
Rgs7	T	A	1: 175,093,830	M220L	probably benign	Het
Rnf13	A	G	3: 57,764,351	N28S	probably benign	Het
Setd3	A	T	12: 108,112,289	I311N	probably damaging	Het
Setd5	G	A	6: 113,121,764	R786H	probably damaging	Het
Slc26a6	T	C	9: 108,855,944		probably null	Het
Slc26a9	A	T	1: 131,763,896	T626S	probably benign	Het
Stom	A	T	2: 35,316,029	N229K	probably benign	Het
Tlr1	A	T	5: 64,926,787	L149*	probably null	Het
Trpc3	C	A	3: 36,638,528	V772F	probably benign	Het
Ube3a	A	G	7: 59,243,354		probably benign	Het
Ugt2b35	T	A	5: 87,001,510	F207I	probably damaging	Het
Usp53	A	T	3: 122,953,235	D360E	possibly damaging	Het
Vmn2r96	T	G	17: 18,573,570	S59A	probably benign	Het
Wnt3	A	G	11: 103,812,464	T258A	possibly damaging	Het
Zfp729b	T	C	13: 67,591,252	T965A	probably benign	Het

Other mutations in Wdr70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Wdr70	APN	15	8019607	missense	probably benign	0.07
IGL01121:Wdr70	APN	15	7873174	missense	possibly damaging	0.53
IGL01508:Wdr70	APN	15	8079263	missense	probably benign	0.33
IGL01801:Wdr70	APN	15	7887324	splice site	probably null
IGL01815:Wdr70	APN	15	7887324	splice site	probably null
IGL01929:Wdr70	APN	15	7920634	splice site	probably null
IGL02150:Wdr70	APN	15	8082546	missense	possibly damaging	0.72
IGL02245:Wdr70	APN	15	8046482	missense	possibly damaging	0.86
IGL02541:Wdr70	APN	15	7884302	nonsense	probably null
IGL02800:Wdr70	APN	15	8082496	missense	probably benign	0.25
IGL02829:Wdr70	APN	15	7976982	missense	possibly damaging	0.92
IGL02831:Wdr70	APN	15	7884306	missense	possibly damaging	0.86
IGL03169:Wdr70	APN	15	7884340	missense	possibly damaging	0.73
IGL03405:Wdr70	APN	15	8035871	missense	possibly damaging	0.73
R0106:Wdr70	UTSW	15	8019587	critical splice donor site	probably null
R0106:Wdr70	UTSW	15	8019587	critical splice donor site	probably null
R0462:Wdr70	UTSW	15	8079161	missense	probably benign	0.00
R0539:Wdr70	UTSW	15	7885637	missense	possibly damaging	0.96
R1398:Wdr70	UTSW	15	8035844	missense	probably benign	0.01
R1812:Wdr70	UTSW	15	8079179	missense	probably benign	0.00
R1863:Wdr70	UTSW	15	7920573	missense	probably benign	0.25
R1913:Wdr70	UTSW	15	7884410	missense	possibly damaging	0.72
R2425:Wdr70	UTSW	15	7887359	nonsense	probably null
R4013:Wdr70	UTSW	15	8079214	nonsense	probably null
R4015:Wdr70	UTSW	15	8079214	nonsense	probably null
R4017:Wdr70	UTSW	15	8079214	nonsense	probably null
R4111:Wdr70	UTSW	15	7976991	missense	probably benign	0.32
R5241:Wdr70	UTSW	15	8079216	missense	probably benign
R5277:Wdr70	UTSW	15	7976984	nonsense	probably null
R5306:Wdr70	UTSW	15	7924273	missense	probably benign	0.04
R5426:Wdr70	UTSW	15	7922105	missense	possibly damaging	0.59
R5586:Wdr70	UTSW	15	7884288	missense	possibly damaging	0.86
R6010:Wdr70	UTSW	15	7887419	splice site	probably null
R6035:Wdr70	UTSW	15	7887349	missense	possibly damaging	0.86
R6035:Wdr70	UTSW	15	7887349	missense	possibly damaging	0.86
R6109:Wdr70	UTSW	15	8079154	splice site	probably null
R6139:Wdr70	UTSW	15	8079251	missense	probably benign	0.04
R6400:Wdr70	UTSW	15	8042841	missense	probably benign	0.32
R6456:Wdr70	UTSW	15	7885637	missense	possibly damaging	0.96
R6518:Wdr70	UTSW	15	8079337	missense	unknown
R7036:Wdr70	UTSW	15	7884374	missense	possibly damaging	0.85
R7056:Wdr70	UTSW	15	7884396	missense	possibly damaging	0.53
R7341:Wdr70	UTSW	15	7924244	missense	possibly damaging	0.71
R7484:Wdr70	UTSW	15	7922081	missense	probably benign	0.23
R7572:Wdr70	UTSW	15	8035846	missense	possibly damaging	0.85
R7886:Wdr70	UTSW	15	8079249	missense	probably benign	0.02
R7969:Wdr70	UTSW	15	8079249	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCAACAGGTGGTGGCTATCCTAC -3'
(R):5'- CCTGAGAACTTGGTGCTGTG -3'

Sequencing Primer
(F):5'- TACCCATGACTGTCAGCTTAGCAG -3'
(R):5'- TGTGCGCAGAGATGCCTAG -3'

Posted On

2019-10-24