Mutagenetix > Incidental Mutations

Incidental Mutation 'R5143:Wdr64'

396506

Institutional Source

Beutler Lab

Gene Symbol

Wdr64

Ensembl Gene

ENSMUSG00000026523

Gene Name

WD repeat domain 64

Synonyms

4930511H01Rik, 4930415O10Rik

Accession Numbers

Ncbi RefSeq: NM_029453.2; MGI:1923070

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5143 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

175698593-175815734 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 175726413 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 170 (D170Y)

Ref Sequence

ENSEMBL: ENSMUSP00000141740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094288] [ENSMUST00000171939] [ENSMUST00000194087]

Predicted Effect

probably damaging
Transcript: ENSMUST00000094288
AA Change: D180Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091846
Gene: ENSMUSG00000026523
AA Change: D180Y

Domain	Start	End	E-Value	Type
WD40	118	159	2.65e1	SMART
WD40	162	200	2.13e1	SMART
low complexity region	259	271	N/A	INTRINSIC
Blast:WD40	277	316	5e-19	BLAST
WD40	323	361	2.4e-1	SMART
WD40	365	404	8.29e-1	SMART
WD40	407	449	1.7e2	SMART
WD40	457	493	1.19e1	SMART
WD40	497	538	4.55e-3	SMART
WD40	643	684	3.31e0	SMART
WD40	742	806	7.4e0	SMART
Blast:WD40	811	851	7e-17	BLAST
WD40	864	903	4.62e-4	SMART
Blast:XPGN	921	964	9e-19	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000171939
AA Change: D170Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128678
Gene: ENSMUSG00000026523
AA Change: D170Y

Domain	Start	End	E-Value	Type
WD40	151	190	5.73e0	SMART
low complexity region	249	261	N/A	INTRINSIC
Blast:WD40	267	306	4e-19	BLAST
WD40	313	351	2.4e-1	SMART
WD40	355	394	8.29e-1	SMART
WD40	397	439	1.7e2	SMART
WD40	447	483	1.19e1	SMART
WD40	487	528	4.55e-3	SMART
WD40	633	674	3.31e0	SMART
WD40	732	796	7.4e0	SMART
Blast:WD40	801	841	5e-17	BLAST
WD40	854	893	4.62e-4	SMART
Blast:XPGN	911	954	1e-18	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000194087
AA Change: D170Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141740
Gene: ENSMUSG00000026523
AA Change: D170Y

Domain	Start	End	E-Value	Type
WD40	151	190	3.6e-2	SMART
low complexity region	249	261	N/A	INTRINSIC
Blast:WD40	267	305	5e-19	BLAST
WD40	313	351	1.5e-3	SMART
WD40	355	394	5.2e-3	SMART
WD40	397	439	1.1e0	SMART
WD40	447	483	7.6e-2	SMART
WD40	487	528	2.9e-5	SMART
WD40	633	674	2.1e-2	SMART
WD40	732	796	4.7e-2	SMART
Blast:WD40	801	841	6e-17	BLAST
WD40	854	893	2.9e-6	SMART
Blast:XPGN	911	954	1e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195794

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,739,198		probably null	Het
Abcc2	T	C	19: 43,821,661	I886T	probably benign	Het
Adrb2	T	C	18: 62,178,776	Y326C	probably damaging	Het
AF366264	A	G	8: 13,836,844	S416P	possibly damaging	Het
Aplp1	G	A	7: 30,441,123	R334C	probably damaging	Het
AY358078	T	C	14: 51,802,549	S39P	unknown	Het
Bpifb2	A	T	2: 153,878,504	D61V	probably damaging	Het
Caap1	A	T	4: 94,501,382	N238K	probably damaging	Het
Cfap54	A	G	10: 93,029,158	V726A	possibly damaging	Het
Chrna7	T	C	7: 63,106,147	Y217C	probably damaging	Het
Crocc	T	A	4: 141,041,039	T414S	probably benign	Het
Cyp2a12	A	G	7: 27,036,611	I482V	probably benign	Het
Dnah6	A	T	6: 73,181,761	F620I	possibly damaging	Het
Eogt	A	G	6: 97,125,584	L256P	probably damaging	Het
F5	A	G	1: 164,211,828	I2002M	probably damaging	Het
Foxp1	A	G	6: 98,945,532		probably null	Het
Fut8	A	G	12: 77,365,209	D111G	probably benign	Het
Gm17689	T	A	9: 36,581,904	N41Y	probably benign	Het
Golgb1	C	T	16: 36,898,689	A319V	probably benign	Het
Hoxd3	C	T	2: 74,746,372	R39C	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Olfr690	T	A	7: 105,329,524	I223F	probably damaging	Het
Pcdhb2	A	G	18: 37,296,732	Y586C	probably damaging	Het
Plcd1	G	A	9: 119,074,451	Q442*	probably null	Het
Plppr5	A	G	3: 117,625,903	T207A	probably benign	Het
Pomt1	C	A	2: 32,254,329	A709E	probably benign	Het
Prmt8	A	G	6: 127,732,714	M61T	probably benign	Het
Ptpn23	A	G	9: 110,385,438		probably benign	Het
Sbf2	T	A	7: 110,422,540	K493*	probably null	Het
Tmc2	A	T	2: 130,234,818	S355C	probably damaging	Het
Tonsl	A	G	15: 76,636,657	S399P	possibly damaging	Het
Ttc14	T	C	3: 33,808,901		probably benign	Het
Ttn	A	G	2: 76,738,065	S19168P	probably damaging	Het
Usp17lb	A	T	7: 104,841,478	S80T	probably damaging	Het
Vmn2r96	A	G	17: 18,583,858	I457V	possibly damaging	Het
Zbtb42	T	C	12: 112,679,514	V41A	probably damaging	Het

Other mutations in Wdr64

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Wdr64	APN	1	175698800	missense	probably benign	0.00
IGL00902:Wdr64	APN	1	175728825	missense	probably damaging	1.00
IGL01347:Wdr64	APN	1	175720333	missense	probably benign	0.12
IGL01353:Wdr64	APN	1	175731585	missense	probably damaging	0.96
IGL01583:Wdr64	APN	1	175767156	critical splice donor site	probably null
IGL01643:Wdr64	APN	1	175772311	missense	probably damaging	1.00
IGL01673:Wdr64	APN	1	175800356	missense	possibly damaging	0.68
IGL01992:Wdr64	APN	1	175706071	missense	probably damaging	1.00
IGL02613:Wdr64	APN	1	175767047	nonsense	probably null
IGL02834:Wdr64	APN	1	175805849	splice site	probably benign
IGL03214:Wdr64	APN	1	175743635	splice site	probably benign
IGL03305:Wdr64	APN	1	175755586	missense	possibly damaging	0.94
IGL03308:Wdr64	APN	1	175766996	unclassified	probably benign
PIT4418001:Wdr64	UTSW	1	175743594	nonsense	probably null
R0036:Wdr64	UTSW	1	175728930	nonsense	probably null
R0041:Wdr64	UTSW	1	175726471	nonsense	probably null
R0041:Wdr64	UTSW	1	175726471	nonsense	probably null
R0079:Wdr64	UTSW	1	175795102	missense	probably benign	0.02
R0380:Wdr64	UTSW	1	175769642	splice site	probably benign
R0486:Wdr64	UTSW	1	175795203	splice site	probably benign
R0520:Wdr64	UTSW	1	175726392	missense	probably damaging	1.00
R0598:Wdr64	UTSW	1	175805899	missense	probably damaging	1.00
R0711:Wdr64	UTSW	1	175772185	missense	probably benign	0.39
R0746:Wdr64	UTSW	1	175792973	missense	possibly damaging	0.92
R0927:Wdr64	UTSW	1	175793081	missense	probably damaging	0.97
R0947:Wdr64	UTSW	1	175775749	missense	probably benign
R1014:Wdr64	UTSW	1	175755626	missense	probably damaging	1.00
R1332:Wdr64	UTSW	1	175795140	missense	possibly damaging	0.82
R1416:Wdr64	UTSW	1	175806002	missense	probably benign	0.01
R1421:Wdr64	UTSW	1	175767150	missense	possibly damaging	0.85
R1467:Wdr64	UTSW	1	175775722	missense	probably benign	0.00
R1467:Wdr64	UTSW	1	175775722	missense	probably benign	0.00
R1796:Wdr64	UTSW	1	175717331	missense	probably damaging	1.00
R1797:Wdr64	UTSW	1	175812019	missense	probably damaging	1.00
R2145:Wdr64	UTSW	1	175767095	missense	probably benign	0.01
R2321:Wdr64	UTSW	1	175795087	missense	possibly damaging	0.57
R2449:Wdr64	UTSW	1	175698913	missense	probably benign
R4049:Wdr64	UTSW	1	175805856	missense	probably benign	0.21
R4155:Wdr64	UTSW	1	175769606	missense	probably benign	0.03
R4624:Wdr64	UTSW	1	175772263	missense	probably benign
R4661:Wdr64	UTSW	1	175726494	missense	probably damaging	1.00
R4711:Wdr64	UTSW	1	175799229	missense	probably damaging	1.00
R4891:Wdr64	UTSW	1	175698779	unclassified	probably benign
R4925:Wdr64	UTSW	1	175724702	splice site	probably null
R4943:Wdr64	UTSW	1	175720316	missense	probably benign	0.01
R5000:Wdr64	UTSW	1	175726375	splice site	probably null
R5001:Wdr64	UTSW	1	175792959	critical splice acceptor site	probably null
R5395:Wdr64	UTSW	1	175755598	missense	probably damaging	1.00
R5813:Wdr64	UTSW	1	175812057	missense	possibly damaging	0.89
R6014:Wdr64	UTSW	1	175805990	missense	possibly damaging	0.56
R6417:Wdr64	UTSW	1	175726390	missense	probably damaging	1.00
R6456:Wdr64	UTSW	1	175785609	critical splice donor site	probably null
R6555:Wdr64	UTSW	1	175720290	missense	probably damaging	1.00
R6576:Wdr64	UTSW	1	175805928	missense	possibly damaging	0.82
R6797:Wdr64	UTSW	1	175810610	critical splice donor site	probably null
R6891:Wdr64	UTSW	1	175706068	missense	probably damaging	1.00
R6959:Wdr64	UTSW	1	175705989	missense	probably damaging	1.00
R7205:Wdr64	UTSW	1	175789933	missense	probably benign	0.34
R7252:Wdr64	UTSW	1	175775674	missense	probably benign	0.00
R7552:Wdr64	UTSW	1	175785581	missense	possibly damaging	0.71
R7732:Wdr64	UTSW	1	175789929	missense	probably benign
R7777:Wdr64	UTSW	1	175789998	missense	possibly damaging	0.71
R7780:Wdr64	UTSW	1	175728976	missense	probably damaging	1.00
R7810:Wdr64	UTSW	1	175731526	missense	probably benign	0.01
R7833:Wdr64	UTSW	1	175763945	missense	probably damaging	1.00
R7843:Wdr64	UTSW	1	175812102	missense	probably benign	0.00
R7887:Wdr64	UTSW	1	175785545	missense	not run
R7991:Wdr64	UTSW	1	175726485	missense	probably benign	0.36
R8124:Wdr64	UTSW	1	175799278	splice site	probably null
R8129:Wdr64	UTSW	1	175775588	missense	probably damaging	0.96
Z1088:Wdr64	UTSW	1	175705985	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GCTGCCAGATGGGACTTCTAATATC -3'
(R):5'- ACTCATTACACAGCGGCCAG -3'

Sequencing Primer
(F):5'- tggagactacacctagga -3'
(R):5'- GGCCAGGCTCATATCCTTAATGG -3'

Posted On

2016-06-21