Mutagenetix > Incidental Mutations

Incidental Mutation 'R8124:Wdr64'

652012

Institutional Source

Beutler Lab

Gene Symbol

Wdr64

Ensembl Gene

ENSMUSG00000026523

Gene Name

WD repeat domain 64

Synonyms

4930511H01Rik, 4930415O10Rik

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_029453.2; MGI:1923070

Is this an essential gene?

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

Stock #

R8124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

175698593-175815734 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to T at 175799278 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094288] [ENSMUST00000171939] [ENSMUST00000194087] [ENSMUST00000194783]

Predicted Effect

probably null
Transcript: ENSMUST00000094288

SMART Domains

Protein: ENSMUSP00000091846
Gene: ENSMUSG00000026523

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 null
Transcript: ENSMUST00000171939

SMART Domains

Protein: ENSMUSP00000128678
Gene: ENSMUSG00000026523

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 null
Transcript: ENSMUST00000194087

SMART Domains

Protein: ENSMUSP00000141740
Gene: ENSMUSG00000026523

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

probably benign
Transcript: ENSMUST00000194783

SMART Domains

Protein: ENSMUSP00000141384
Gene: ENSMUSG00000026523

Domain	Start	End	E-Value	Type
WD40	6	42	7.6e-2	SMART
WD40	46	87	2.9e-5	SMART
WD40	192	233	2.1e-2	SMART
WD40	291	355	4.7e-2	SMART
Blast:WD40	360	400	4e-17	BLAST
WD40	413	452	2.9e-6	SMART
Blast:XPGN	470	519	3e-19	BLAST

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap3	T	A	5: 24,478,130	I320N	probably benign	Het
Ahnak	G	A	19: 9,007,123	G1924S	probably damaging	Het
Ap2a2	G	A	7: 141,598,844	R141H	probably benign	Het
Atf7ip2	T	C	16: 10,209,135	V89A	possibly damaging	Het
Clpsl2	G	A	17: 28,550,728	G55R	probably damaging	Het
Csnk2a2	G	A	8: 95,455,947	P296L		Het
Dab2	T	A	15: 6,429,397	C263*	probably null	Het
Dao	AGG	AG	5: 114,015,209		probably benign	Het
Ddx60	C	T	8: 61,983,911	A965V	probably benign	Het
Dennd5a	A	T	7: 109,897,935	I1119N	probably damaging	Het
Dpy30	A	G	17: 74,316,104		probably benign	Het
Epg5	G	A	18: 77,964,996	A780T	probably benign	Het
Etl4	A	G	2: 20,806,640	D1546G	probably benign	Het
Evl	C	T	12: 108,681,524	R295*	probably null	Het
F13a1	T	C	13: 37,025,805	K62R	probably damaging	Het
Gm2832	T	C	14: 41,278,937	M44T		Het
Gm884	A	G	11: 103,620,431	V237A	unknown	Het
Gm9195	T	C	14: 72,442,623	I2249V	probably benign	Het
Hmcn2	T	C	2: 31,400,124	V2323A	probably benign	Het
Ice2	T	A	9: 69,400,495	N20K	probably damaging	Het
Klf15	T	C	6: 90,466,881	F146S	probably damaging	Het
Lgi3	A	G	14: 70,534,738	Y241C	probably damaging	Het
Lig4	A	T	8: 9,972,954	D275E	probably damaging	Het
Lrit1	T	A	14: 37,062,048	S444R	probably benign	Het
Mip	T	C	10: 128,226,201	V107A	possibly damaging	Het
Myo15	G	A	11: 60,507,453	V1581M		Het
Nckap1l	A	G	15: 103,473,821	D481G	possibly damaging	Het
Obox3	A	T	7: 15,589,949		probably null	Het
Olfr1438-ps1	T	A	19: 12,333,470	N129Y	probably damaging	Het
Olfr491	C	A	7: 108,317,777	N294K	possibly damaging	Het
Olfr707	G	A	7: 106,891,881	T76I	possibly damaging	Het
Olfr749	C	T	14: 50,736,286	R292H	probably benign	Het
Olfr944	T	C	9: 39,217,671	F105L	probably benign	Het
Papd7	G	A	13: 69,533,597		probably benign	Het
Pilrb2	T	A	5: 137,871,044	E98V	probably damaging	Het
Plekhm1	A	G	11: 103,366,949	V1053A	probably benign	Het
Prdm2	A	T	4: 143,135,265	V485E	probably damaging	Het
Riox2	G	A	16: 59,486,591	E282K	probably benign	Het
Rps6ka2	T	A	17: 7,281,829	V379E	possibly damaging	Het
Skiv2l2	A	C	13: 112,927,337	D7E	probably benign	Het
Slc4a7	G	A	14: 14,729,211	E20K	possibly damaging	Het
Sned1	G	A	1: 93,282,989		probably null	Het
Spata3	C	T	1: 86,024,353	R110C	unknown	Het
St6gal1	G	A	16: 23,357,835	A393T	probably benign	Het
Tmem132d	T	C	5: 127,792,560	Q570R	probably damaging	Het
Tmem87a	T	C	2: 120,392,195	T168A	probably benign	Het
Trank1	A	G	9: 111,378,927	R1747G	probably benign	Het
Txk	C	T	5: 72,703,263		probably null	Het
Vcan	T	A	13: 89,704,254	L862F	possibly damaging	Het
Zfp106	G	T	2: 120,524,331	Q1343K	probably benign	Het
Zfp719	A	G	7: 43,589,890	T301A	probably benign	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
R5143:Wdr64	UTSW	1	175726413	missense	probably damaging	1.00
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
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'- TTCTATCCACTAATATAAGGGCCTG -3'
(R):5'- ATAGGCAGGCTAAAACTCTGCAC -3'

Sequencing Primer
(F):5'- GGGCCTGAATCAAAATGACTTGTC -3'
(R):5'- TGTCATAAGGTAGCATCCATCC -3'

Posted On

2020-09-23