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: 0.959) question?

Stock #

R5306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7873055-8099209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7924273 bp (GRCm38)

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
9930021J03Rik	A	G	19: 29,729,830		probably benign	Het
Adam29	T	A	8: 55,871,757	D554V	probably damaging	Het
Ankrd44	G	A	1: 54,926,203		probably benign	Het
Api5	A	T	2: 94,423,466	C297*	probably null	Het
Asb14	G	A	14: 26,911,909	C357Y	probably damaging	Het
Brdt	T	A	5: 107,345,144	D112E	probably damaging	Het
Capsl	C	A	15: 9,457,790	Q32K	probably benign	Het
Ccdc106	A	G	7: 5,058,097	D81G	probably damaging	Het
Cep104	C	A	4: 154,006,242	T884K	probably benign	Het
Cmbl	T	C	15: 31,582,069	Y71H	probably damaging	Het
Crybg3	A	T	16: 59,559,993		probably benign	Het
Dynlt1c	T	C	17: 6,601,811	M1T	probably null	Het
Erbb2	T	C	11: 98,428,206	S574P	probably benign	Het
Exosc10	T	C	4: 148,562,392	V153A	probably benign	Het
Faxc	G	T	4: 21,931,557		probably benign	Het
Fcgbp	A	G	7: 28,091,818	T835A	probably damaging	Het
Fmo5	G	T	3: 97,641,760	M241I	probably benign	Het
Gabra1	A	C	11: 42,133,552	I432S	probably benign	Het
Gfap	A	G	11: 102,895,748		probably null	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm12185	T	A	11: 48,915,555	M270L	probably benign	Het
Gm14443	T	C	2: 175,169,579	N358S	possibly damaging	Het
Gm6583	T	C	5: 112,355,044	R265G	probably benign	Het
Gpr3	C	T	4: 133,211,179	V61M	probably damaging	Het
Herc2	C	T	7: 56,184,961	T3229M	probably damaging	Het
Ifit3	A	G	19: 34,587,807	Y251C	probably damaging	Het
Inf2	G	A	12: 112,601,553	V180I	probably benign	Het
Ints11	T	C	4: 155,875,208	Y91H	probably damaging	Het
Ints4	A	C	7: 97,509,678	D419A	probably damaging	Het
Kmt2e	T	C	5: 23,499,333	S1175P	probably damaging	Het
Mki67	A	T	7: 135,714,001	V44E	probably damaging	Het
Mrgprb13	A	T	7: 48,312,192		noncoding transcript	Het
Myh2	T	C	11: 67,186,556	L839P	probably damaging	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Olfr723	A	G	14: 49,929,550		probably benign	Het
Olfr814	A	C	10: 129,873,941	I272R	probably damaging	Het
Pced1a	T	A	2: 130,419,171	H422L	probably benign	Het
Plpp1	G	T	13: 112,851,555		probably null	Het
Plxna4	T	C	6: 32,206,121	Y949C	probably damaging	Het
Polg2	G	A	11: 106,778,970	T158I	probably damaging	Het
Prss38	A	T	11: 59,372,995	I297K	probably benign	Het
Psph	A	G	5: 129,769,367	L98P	probably damaging	Het
Rab11b	G	A	17: 33,760,269		probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,579,929		probably benign	Het
Serpine3	G	A	14: 62,670,933	A137T	probably damaging	Het
Sh3bp4	T	C	1: 89,144,275	F282L	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slco2b1	T	A	7: 99,688,991	Y109F	possibly damaging	Het
Slfn10-ps	T	A	11: 83,035,529		noncoding transcript	Het
Smc5	A	G	19: 23,259,645		probably null	Het
Smyd4	A	G	11: 75,402,158	N638S	probably benign	Het
Stxbp5	T	C	10: 9,799,991	E628G	probably damaging	Het
Tmem236	A	T	2: 14,219,164	K255*	probably null	Het
Ttc29	T	A	8: 78,251,910		probably null	Het
Ttc37	G	A	13: 76,147,767	E1050K	possibly damaging	Het
Tyr	A	G	7: 87,438,014	I430T	probably damaging	Het
Uckl1	A	G	2: 181,574,367		probably null	Het
Vmn2r52	A	C	7: 10,170,745	I389R	possibly damaging	Het
Wdr62	A	T	7: 30,265,263	F352Y	possibly damaging	Het
Zfp408	T	A	2: 91,646,345	M155L	probably benign	Het
Zfp459	T	A	13: 67,413,130	Q66H	probably damaging	Het
Zfp870	C	A	17: 32,883,653	G234V	probably damaging	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
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'- TGCTGCCAAGTTGAAAACACG -3'
(R):5'- CCTGCTAAGACTTATCTCTGTTAAAGC -3'

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

Posted On

2016-07-22