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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7652 (G1)

Quality Score

225.009

Status

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

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 70 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
Stambp	A	T	6: 83,563,928		probably null	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
R8103:Wdr70	UTSW	15	7977131	missense	possibly damaging	0.70
R8214:Wdr70	UTSW	15	7887370	missense	probably benign	0.03
R8252:Wdr70	UTSW	15	8042856	splice site	probably benign

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