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

Essential gene?

Probably essential (E-score: 0.966) 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 (GRCm38)	Q545*	probably null	Het
Aadacl2	T	C	3: 60,025,077 (GRCm38)	C338R	probably damaging	Het
Abcb4	G	A	5: 8,928,578 (GRCm38)		probably null	Het
Adam17	T	C	12: 21,361,767 (GRCm38)	D41G	probably damaging	Het
Angptl7	T	A	4: 148,498,083 (GRCm38)	I119F	probably damaging	Het
Arid1b	T	A	17: 5,337,029 (GRCm38)	S1586T	probably benign	Het
Arid4b	C	T	13: 14,195,429 (GRCm38)	A1170V	probably damaging	Het
Atad5	A	G	11: 80,133,047 (GRCm38)	T1659A	probably damaging	Het
Bub1b	T	G	2: 118,632,421 (GRCm38)	D754E	probably benign	Het
Cdkn1a	T	C	17: 29,098,565 (GRCm38)	V53A	probably benign	Het
Chsy1	T	G	7: 66,171,817 (GRCm38)	V600G	probably benign	Het
Cntrl	G	A	2: 35,149,469 (GRCm38)	V561M	probably damaging	Het
Col6a5	A	G	9: 105,928,054 (GRCm38)	C1218R	unknown	Het
Crhr1	T	C	11: 104,169,147 (GRCm38)	L140P	probably damaging	Het
Cyb5b	CAGAG	CAG	8: 107,170,388 (GRCm38)		probably null	Het
Cyp3a59	A	T	5: 146,102,811 (GRCm38)	Q298L	probably damaging	Het
Dctn1	A	G	6: 83,192,518 (GRCm38)	E638G	possibly damaging	Het
Ddx41	A	G	13: 55,535,954 (GRCm38)	I88T	probably benign	Het
Dennd11	A	G	6: 40,409,431 (GRCm38)	I288T	probably benign	Het
Diaph1	G	T	18: 37,891,018 (GRCm38)	P589Q	unknown	Het
Dip2b	C	A	15: 100,198,938 (GRCm38)		probably null	Het
Dscaml1	G	A	9: 45,751,286 (GRCm38)		probably null	Het
Dync1h1	C	T	12: 110,662,900 (GRCm38)	A4246V	possibly damaging	Het
Epb41l1	T	C	2: 156,496,511 (GRCm38)	I158T	probably damaging	Het
Fat1	A	G	8: 45,036,803 (GRCm38)	Y3584C	probably damaging	Het
Fxyd5	T	A	7: 31,037,930 (GRCm38)		probably null	Het
Gapvd1	T	A	2: 34,725,064 (GRCm38)	K336*	probably null	Het
Gm9637	G	A	14: 19,402,395 (GRCm38)		noncoding transcript	Het
Gpr65	C	T	12: 98,275,742 (GRCm38)	T218M	probably damaging	Het
Gsdma3	T	C	11: 98,632,393 (GRCm38)	V203A	probably damaging	Het
Helb	T	A	10: 120,089,566 (GRCm38)	K969*	probably null	Het
Hipk2	G	A	6: 38,698,163 (GRCm38)	A1188V	probably benign	Het
Itpk1	T	A	12: 102,574,058 (GRCm38)	E255D	probably benign	Het
Kif21a	T	C	15: 90,971,766 (GRCm38)	D596G	possibly damaging	Het
Kif5a	A	T	10: 127,242,010 (GRCm38)	I405N	probably benign	Het
Klk11	T	A	7: 43,777,755 (GRCm38)		probably null	Het
Luzp1	T	A	4: 136,542,331 (GRCm38)	L622M	probably benign	Het
Macf1	T	A	4: 123,432,024 (GRCm38)	I5227F	probably damaging	Het
Mapk10	A	C	5: 102,913,262 (GRCm38)	S470A	probably damaging	Het
Morc2a	C	T	11: 3,685,831 (GRCm38)	T897I	probably damaging	Het
Nmbr	A	G	10: 14,760,539 (GRCm38)		probably null	Het
Nosip	T	A	7: 45,076,574 (GRCm38)	M214K	probably damaging	Het
Or13c7d	G	T	4: 43,770,230 (GRCm38)	Y260*	probably null	Het
Or52m2	A	T	7: 102,614,370 (GRCm38)	N206K	possibly damaging	Het
Or52r1	T	C	7: 102,888,078 (GRCm38)	Y25C	probably benign	Het
Or5w13	A	G	2: 87,693,103 (GRCm38)	F260L	probably benign	Het
Pik3c2a	A	T	7: 116,417,664 (GRCm38)	V286E	probably damaging	Het
Ppfia4	T	A	1: 134,324,573 (GRCm38)	I388F	probably benign	Het
Ppm1f	A	G	16: 16,917,787 (GRCm38)	H289R	probably damaging	Het
Ptprz1	T	A	6: 22,959,712 (GRCm38)	D69E	probably benign	Het
Rad54b	A	T	4: 11,612,770 (GRCm38)	T801S	probably damaging	Het
Ramp1	A	T	1: 91,196,857 (GRCm38)	N47Y	probably damaging	Het
Rnf32	T	A	5: 29,206,260 (GRCm38)	H181Q	possibly damaging	Het
Rpa2	T	C	4: 132,768,685 (GRCm38)	F6L	probably benign	Het
Ryr2	C	A	13: 11,560,586 (GRCm38)	R4842L	probably damaging	Het
Scn11a	G	T	9: 119,780,865 (GRCm38)	C972*	probably null	Het
Setd2	C	T	9: 110,550,102 (GRCm38)	T995I	probably damaging	Het
Slc39a7	A	G	17: 34,028,815 (GRCm38)	L471P	probably damaging	Het
Slc6a21	C	G	7: 45,282,947 (GRCm38)	S350R	probably damaging	Het
Slx4ip	A	G	2: 137,068,195 (GRCm38)	N300S	probably benign	Het
Spef2	G	A	15: 9,679,349 (GRCm38)	P634L	probably damaging	Het
Stk32b	G	A	5: 37,466,758 (GRCm38)	A215V	probably damaging	Het
Svil	A	T	18: 5,097,545 (GRCm38)	Y1676F	probably damaging	Het
Tanc1	G	A	2: 59,791,679 (GRCm38)	V381M	probably damaging	Het
Tanc2	T	C	11: 105,886,386 (GRCm38)	F797L	probably benign	Het
Tas2r120	T	G	6: 132,657,601 (GRCm38)	C215W	probably benign	Het
Tenm4	G	A	7: 96,895,940 (GRCm38)	D2388N	probably damaging	Het
Thsd4	C	T	9: 60,056,937 (GRCm38)	S64N	probably damaging	Het
Thsd7b	C	T	1: 129,758,610 (GRCm38)	R630C	probably damaging	Het
Top3a	A	G	11: 60,759,362 (GRCm38)	I145T	probably damaging	Het
Vmn2r78	A	G	7: 86,920,787 (GRCm38)	D171G	probably benign	Het
Vmn2r82	A	G	10: 79,379,212 (GRCm38)	E343G	probably benign	Het

Other mutations in Wdr70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Wdr70	APN	15	8,019,607 (GRCm38)	missense	probably benign	0.07
IGL01121:Wdr70	APN	15	7,873,174 (GRCm38)	missense	possibly damaging	0.53
IGL01508:Wdr70	APN	15	8,079,263 (GRCm38)	missense	probably benign	0.33
IGL01801:Wdr70	APN	15	7,887,324 (GRCm38)	splice site	probably null
IGL01815:Wdr70	APN	15	7,887,324 (GRCm38)	splice site	probably null
IGL01929:Wdr70	APN	15	7,920,634 (GRCm38)	splice site	probably null
IGL02150:Wdr70	APN	15	8,082,546 (GRCm38)	missense	possibly damaging	0.72
IGL02245:Wdr70	APN	15	8,046,482 (GRCm38)	missense	possibly damaging	0.86
IGL02541:Wdr70	APN	15	7,884,302 (GRCm38)	nonsense	probably null
IGL02800:Wdr70	APN	15	8,082,496 (GRCm38)	missense	probably benign	0.25
IGL02829:Wdr70	APN	15	7,976,982 (GRCm38)	missense	possibly damaging	0.92
IGL02831:Wdr70	APN	15	7,884,306 (GRCm38)	missense	possibly damaging	0.86
IGL03169:Wdr70	APN	15	7,884,340 (GRCm38)	missense	possibly damaging	0.73
IGL03405:Wdr70	APN	15	8,035,871 (GRCm38)	missense	possibly damaging	0.73
R0106:Wdr70	UTSW	15	8,019,587 (GRCm38)	critical splice donor site	probably null
R0106:Wdr70	UTSW	15	8,019,587 (GRCm38)	critical splice donor site	probably null
R0462:Wdr70	UTSW	15	8,079,161 (GRCm38)	missense	probably benign	0.00
R0539:Wdr70	UTSW	15	7,885,637 (GRCm38)	missense	possibly damaging	0.96
R1398:Wdr70	UTSW	15	8,035,844 (GRCm38)	missense	probably benign	0.01
R1863:Wdr70	UTSW	15	7,920,573 (GRCm38)	missense	probably benign	0.25
R1913:Wdr70	UTSW	15	7,884,410 (GRCm38)	missense	possibly damaging	0.72
R2425:Wdr70	UTSW	15	7,887,359 (GRCm38)	nonsense	probably null
R4013:Wdr70	UTSW	15	8,079,214 (GRCm38)	nonsense	probably null
R4015:Wdr70	UTSW	15	8,079,214 (GRCm38)	nonsense	probably null
R4017:Wdr70	UTSW	15	8,079,214 (GRCm38)	nonsense	probably null
R4111:Wdr70	UTSW	15	7,976,991 (GRCm38)	missense	probably benign	0.32
R5241:Wdr70	UTSW	15	8,079,216 (GRCm38)	missense	probably benign
R5277:Wdr70	UTSW	15	7,976,984 (GRCm38)	nonsense	probably null
R5306:Wdr70	UTSW	15	7,924,273 (GRCm38)	missense	probably benign	0.04
R5426:Wdr70	UTSW	15	7,922,105 (GRCm38)	missense	possibly damaging	0.59
R5586:Wdr70	UTSW	15	7,884,288 (GRCm38)	missense	possibly damaging	0.86
R6010:Wdr70	UTSW	15	7,887,419 (GRCm38)	splice site	probably null
R6035:Wdr70	UTSW	15	7,887,349 (GRCm38)	missense	possibly damaging	0.86
R6035:Wdr70	UTSW	15	7,887,349 (GRCm38)	missense	possibly damaging	0.86
R6109:Wdr70	UTSW	15	8,079,154 (GRCm38)	splice site	probably null
R6139:Wdr70	UTSW	15	8,079,251 (GRCm38)	missense	probably benign	0.04
R6400:Wdr70	UTSW	15	8,042,841 (GRCm38)	missense	probably benign	0.32
R6456:Wdr70	UTSW	15	7,885,637 (GRCm38)	missense	possibly damaging	0.96
R6518:Wdr70	UTSW	15	8,079,337 (GRCm38)	missense	unknown
R7036:Wdr70	UTSW	15	7,884,374 (GRCm38)	missense	possibly damaging	0.85
R7056:Wdr70	UTSW	15	7,884,396 (GRCm38)	missense	possibly damaging	0.53
R7341:Wdr70	UTSW	15	7,924,244 (GRCm38)	missense	possibly damaging	0.71
R7484:Wdr70	UTSW	15	7,922,081 (GRCm38)	missense	probably benign	0.23
R7572:Wdr70	UTSW	15	8,035,846 (GRCm38)	missense	possibly damaging	0.85
R7652:Wdr70	UTSW	15	8,079,216 (GRCm38)	missense	probably benign
R7886:Wdr70	UTSW	15	8,079,249 (GRCm38)	missense	probably benign	0.02
R8103:Wdr70	UTSW	15	7,977,131 (GRCm38)	missense	possibly damaging	0.70
R8214:Wdr70	UTSW	15	7,887,370 (GRCm38)	missense	probably benign	0.03
R8252:Wdr70	UTSW	15	8,042,856 (GRCm38)	splice site	probably benign
R8869:Wdr70	UTSW	15	8,093,726 (GRCm38)	missense	probably benign	0.02
R9203:Wdr70	UTSW	15	7,873,203 (GRCm38)	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