Mutagenetix > Incidental Mutation

Incidental Mutation 'R1812:Wdr70'

202506

Institutional Source

Beutler Lab

Gene Symbol

Wdr70

Ensembl Gene

ENSMUSG00000039828

Gene Name

WD repeat domain 70

Synonyms

4833422F06Rik

MMRRC Submission

039840-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R1812 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7873055-8099209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8079179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 161 (D161G)

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: D161G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000037340
Gene: ENSMUSG00000039828
AA Change: D161G

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: 97.3%
3x: 96.3%
10x: 93.2%
20x: 85.7%

Validation Efficiency

100% (1/1)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,257,457	Q545*	probably null	Het
Aadacl2	T	C	3: 60,025,077	C338R	probably damaging	Het
Abcb4	G	A	5: 8,928,578		probably null	Het
Adam17	T	C	12: 21,361,767	D41G	probably damaging	Het
Angptl7	T	A	4: 148,498,083	I119F	probably damaging	Het
Arid1b	T	A	17: 5,337,029	S1586T	probably benign	Het
Arid4b	C	T	13: 14,195,429	A1170V	probably damaging	Het
Atad5	A	G	11: 80,133,047	T1659A	probably damaging	Het
Bub1b	T	G	2: 118,632,421	D754E	probably benign	Het
Cdkn1a	T	C	17: 29,098,565	V53A	probably benign	Het
Chsy1	T	G	7: 66,171,817	V600G	probably benign	Het
Cntrl	G	A	2: 35,149,469	V561M	probably damaging	Het
Col6a5	A	G	9: 105,928,054	C1218R	unknown	Het
Crhr1	T	C	11: 104,169,147	L140P	probably damaging	Het
Cyb5b	CAGAG	CAG	8: 107,170,388		probably null	Het
Cyp3a59	A	T	5: 146,102,811	Q298L	probably damaging	Het
Dctn1	A	G	6: 83,192,518	E638G	possibly damaging	Het
Ddx41	A	G	13: 55,535,954	I88T	probably benign	Het
Diaph1	G	T	18: 37,891,018	P589Q	unknown	Het
Dip2b	C	A	15: 100,198,938		probably null	Het
Dscaml1	G	A	9: 45,751,286		probably null	Het
Dync1h1	C	T	12: 110,662,900	A4246V	possibly damaging	Het
E330009J07Rik	A	G	6: 40,409,431	I288T	probably benign	Het
Epb41l1	T	C	2: 156,496,511	I158T	probably damaging	Het
Fat1	A	G	8: 45,036,803	Y3584C	probably damaging	Het
Fxyd5	T	A	7: 31,037,930		probably null	Het
Gapvd1	T	A	2: 34,725,064	K336*	probably null	Het
Gm9637	G	A	14: 19,402,395		noncoding transcript	Het
Gpr65	C	T	12: 98,275,742	T218M	probably damaging	Het
Gsdma3	T	C	11: 98,632,393	V203A	probably damaging	Het
Helb	T	A	10: 120,089,566	K969*	probably null	Het
Hipk2	G	A	6: 38,698,163	A1188V	probably benign	Het
Itpk1	T	A	12: 102,574,058	E255D	probably benign	Het
Kif21a	T	C	15: 90,971,766	D596G	possibly damaging	Het
Kif5a	A	T	10: 127,242,010	I405N	probably benign	Het
Klk11	T	A	7: 43,777,755		probably null	Het
Luzp1	T	A	4: 136,542,331	L622M	probably benign	Het
Macf1	T	A	4: 123,432,024	I5227F	probably damaging	Het
Mapk10	A	C	5: 102,913,262	S470A	probably damaging	Het
Morc2a	C	T	11: 3,685,831	T897I	probably damaging	Het
Nmbr	A	G	10: 14,760,539		probably null	Het
Nosip	T	A	7: 45,076,574	M214K	probably damaging	Het
Olfr1136	A	G	2: 87,693,103	F260L	probably benign	Het
Olfr159	G	T	4: 43,770,230	Y260*	probably null	Het
Olfr553	A	T	7: 102,614,370	N206K	possibly damaging	Het
Olfr569	T	C	7: 102,888,078	Y25C	probably benign	Het
Pik3c2a	A	T	7: 116,417,664	V286E	probably damaging	Het
Ppfia4	T	A	1: 134,324,573	I388F	probably benign	Het
Ppm1f	A	G	16: 16,917,787	H289R	probably damaging	Het
Ptprz1	T	A	6: 22,959,712	D69E	probably benign	Het
Rad54b	A	T	4: 11,612,770	T801S	probably damaging	Het
Ramp1	A	T	1: 91,196,857	N47Y	probably damaging	Het
Rnf32	T	A	5: 29,206,260	H181Q	possibly damaging	Het
Rpa2	T	C	4: 132,768,685	F6L	probably benign	Het
Ryr2	C	A	13: 11,560,586	R4842L	probably damaging	Het
Scn11a	G	T	9: 119,780,865	C972*	probably null	Het
Setd2	C	T	9: 110,550,102	T995I	probably damaging	Het
Slc39a7	A	G	17: 34,028,815	L471P	probably damaging	Het
Slc6a21	C	G	7: 45,282,947	S350R	probably damaging	Het
Slx4ip	A	G	2: 137,068,195	N300S	probably benign	Het
Spef2	G	A	15: 9,679,349	P634L	probably damaging	Het
Stk32b	G	A	5: 37,466,758	A215V	probably damaging	Het
Svil	A	T	18: 5,097,545	Y1676F	probably damaging	Het
Tanc1	G	A	2: 59,791,679	V381M	probably damaging	Het
Tanc2	T	C	11: 105,886,386	F797L	probably benign	Het
Tas2r120	T	G	6: 132,657,601	C215W	probably benign	Het
Tenm4	G	A	7: 96,895,940	D2388N	probably damaging	Het
Thsd4	C	T	9: 60,056,937	S64N	probably damaging	Het
Thsd7b	C	T	1: 129,758,610	R630C	probably damaging	Het
Top3a	A	G	11: 60,759,362	I145T	probably damaging	Het
Vmn2r78	A	G	7: 86,920,787	D171G	probably benign	Het
Vmn2r82	A	G	10: 79,379,212	E343G	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
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
R7652:Wdr70	UTSW	15	8079216	missense	probably benign
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
R8869:Wdr70	UTSW	15	8093726	missense	probably benign	0.02
R9203:Wdr70	UTSW	15	7873203	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAACGACACGGTAGGATGC -3'
(R):5'- CAGTGAGAGTGACGACAGTTC -3'

Sequencing Primer
(F):5'- AACACTGTGGGTTCAAGCTC -3'
(R):5'- GACGACAGTTCTGATTCATCTGACG -3'

Posted On

2014-06-23