Mutagenetix > Incidental Mutation

Incidental Mutation 'R6035:Wdr70'

486540

Institutional Source

Beutler Lab

Gene Symbol

Wdr70

Ensembl Gene

ENSMUSG00000039828

Gene Name

WD repeat domain 70

Synonyms

4833422F06Rik

MMRRC Submission

044207-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R6035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7873055-8099209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 7887349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 529 (T529I)

Ref Sequence

ENSEMBL: ENSMUSP00000037340 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045766
AA Change: T529I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037340
Gene: ENSMUSG00000039828
AA Change: T529I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226928

Meta Mutation Damage Score

0.0856

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

84% (62/74)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,638,394	G76W	probably damaging	Het
Abca17	A	T	17: 24,281,245	F1324Y	possibly damaging	Het
Abca8b	A	T	11: 109,971,860		probably null	Het
Abcc12	A	G	8: 86,517,404	M1040T	probably damaging	Het
Abtb1	A	G	6: 88,841,806	F7L	probably damaging	Het
Adcy9	T	C	16: 4,304,513	T558A	probably benign	Het
Adgrb1	A	T	15: 74,540,443	T424S	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ankrd31	C	A	13: 96,832,213	P786Q	probably benign	Het
Arhgap39	G	T	15: 76,737,224	Y392*	probably null	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Carmil2	G	T	8: 105,692,563	W749L	probably benign	Het
Ccar1	A	G	10: 62,751,785	Y867H	unknown	Het
Cdh13	A	G	8: 118,505,698	D47G	probably benign	Het
Chst9	T	A	18: 15,452,853	T218S	probably benign	Het
Clec2i	G	A	6: 128,893,624	V67I	probably benign	Het
Cox7a2	T	A	9: 79,759,746		probably benign	Het
Cpz	A	G	5: 35,517,585	C107R	probably damaging	Het
Dapk1	T	A	13: 60,761,199	C1209S	possibly damaging	Het
Ddx41	T	C	13: 55,533,968	M307V	probably benign	Het
Defa24	A	G	8: 21,734,549	I5V	probably benign	Het
Dgcr8	A	T	16: 18,258,314	N2K	probably damaging	Het
Ebf2	A	G	14: 67,238,974	D131G	probably damaging	Het
Fam149b	C	T	14: 20,377,917	R424C	probably damaging	Het
Fbln2	G	A	6: 91,263,353	V714M	probably damaging	Het
Fgf5	T	C	5: 98,275,526	Y257H	probably damaging	Het
Fmo3	A	C	1: 162,964,036	V224G	probably damaging	Het
Gigyf2	T	C	1: 87,410,728	I394T	possibly damaging	Het
Glmn	T	A	5: 107,593,880		probably null	Het
Greb1l	T	C	18: 10,501,025	I385T	possibly damaging	Het
Grhl1	C	A	12: 24,608,450	Q365K	probably benign	Het
Gsdme	G	A	6: 50,229,326	T179M	probably damaging	Het
Gtf2a1l	A	G	17: 88,711,534	T349A	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Il5ra	G	A	6: 106,741,265	T76I	probably damaging	Het
Itga8	T	C	2: 12,191,714	T631A	probably benign	Het
Kcnh6	G	A	11: 106,019,152		probably null	Het
Krt26	C	T	11: 99,333,589	E368K	probably benign	Het
Lhx9	T	C	1: 138,838,543	D169G	possibly damaging	Het
Lman1l	A	G	9: 57,611,747		probably null	Het
Lmod3	A	G	6: 97,247,273	L529P	probably damaging	Het
Nup155	A	G	15: 8,144,093	T891A	probably benign	Het
Olfr20	T	C	11: 73,353,756	M1T	probably null	Het
Olfr341	T	A	2: 36,479,984	I49F	probably damaging	Het
Olfr409-ps1	T	C	11: 74,317,459	*145R	probably null	Het
Olfr739	A	G	14: 50,424,527	T3A	probably benign	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Papln	G	C	12: 83,774,680	G262A	probably damaging	Het
Pdcd1lg2	G	A	19: 29,446,035	V160I	probably benign	Het
Pde8b	A	G	13: 95,027,597		probably benign	Het
Ppme1	G	A	7: 100,354,795	R68*	probably null	Het
Prob1	T	C	18: 35,654,782	S140G	probably benign	Het
Ptprn2	A	T	12: 117,255,595	N949Y	probably damaging	Het
Qser1	C	A	2: 104,787,123	D1115Y	probably damaging	Het
Rad54l	G	T	4: 116,097,469	D674E	probably damaging	Het
Ripk4	T	A	16: 97,744,187	D420V	probably damaging	Het
Ros1	G	T	10: 52,077,971	S1857R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Rsf1	A	G	7: 97,662,109	E682G	probably benign	Het
Samd4	G	A	14: 47,087,872	R515H	probably damaging	Het
Selp	T	A	1: 164,141,510	W560R	probably benign	Het
Shc3	A	T	13: 51,461,432	L163Q	probably damaging	Het
Shh	G	A	5: 28,461,399	A163V	probably damaging	Het
Slc17a8	T	C	10: 89,592,075	R113G	possibly damaging	Het
Slc5a6	C	A	5: 31,048,824		probably benign	Het
Smarcd2	A	G	11: 106,266,889		probably null	Het
Sytl3	A	G	17: 6,728,265	D148G	probably damaging	Het
Tnks	G	T	8: 34,918,461	H297Q	possibly damaging	Het
Trbv21	A	T	6: 41,202,634		probably benign	Het
Ube3c	T	C	5: 29,601,163	F268L	probably benign	Het
Ugt2b5	T	C	5: 87,139,682	I209V	probably benign	Het
Usp1	A	G	4: 98,929,845	N140S	probably damaging	Het
Vcam1	T	C	3: 116,125,957	Y226C	probably damaging	Het
Vmn1r129	T	A	7: 21,360,609	Q228L	probably damaging	Het
Vmn1r209	T	A	13: 22,806,032	N163Y	probably benign	Het
Vmn1r85	A	G	7: 13,084,927	S97P	probably damaging	Het
Vmn2r30	C	T	7: 7,334,351	M95I	probably benign	Het
Vmn2r74	G	A	7: 85,951,890	R847C	probably damaging	Het
Zfp532	T	G	18: 65,623,934	S313A	possibly damaging	Het
Zhx3	A	T	2: 160,779,543	N901K	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
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'- AGCTAAAGTGATGCTGTCATGTG -3'
(R):5'- GGCCAAGATCTTCCAGTGTTTC -3'

Sequencing Primer
(F):5'- GTGACTTGTACCTGTGTCCACATG -3'
(R):5'- CTGCTGGGGTCTACTACATACAG -3'

Posted On

2017-08-16