Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Wdr64'

730500

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

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

175698593-175815734 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 175717288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 96 (Y96H)

Ref Sequence

ENSEMBL: ENSMUSP00000128678 (fasta)

Gene Model

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

AlphaFold

Q9D565

Predicted Effect

probably damaging
Transcript: ENSMUST00000094288
AA Change: Y96H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091846
Gene: ENSMUSG00000026523
AA Change: Y96H

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: Y96H

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

SMART Domains

Protein: ENSMUSP00000128678
Gene: ENSMUSG00000026523
AA Change: Y96H

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: Y96H

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

SMART Domains

Protein: ENSMUSP00000141740
Gene: ENSMUSG00000026523
AA Change: Y96H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,520,781	N2552I	probably damaging	Het
Amph	G	T	13: 19,125,083	A444S	probably benign	Het
Ankrd52	A	G	10: 128,380,588	N157S	probably benign	Het
Arhgap29	T	C	3: 122,004,271	F537L	probably benign	Het
Asic1	A	C	15: 99,692,776	T136P	probably damaging	Het
Atg2b	T	C	12: 105,639,302	Y1468C	probably benign	Het
Atm	A	G	9: 53,516,517	L431P	probably damaging	Het
Btaf1	A	G	19: 36,945,246	T17A	probably benign	Het
Car10	A	G	11: 93,304,541	N58S	probably benign	Het
Cd79b	A	T	11: 106,312,019	D252E	probably damaging	Het
Cdipt	C	T	7: 126,977,030		probably benign	Het
Cebpe	T	C	14: 54,711,708	D84G	probably damaging	Het
Cenpj	T	C	14: 56,552,996	E532G	probably benign	Het
Cherp	A	G	8: 72,463,076		probably null	Het
Chuk	T	C	19: 44,082,670	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,397,640	T9I	probably benign	Het
Clspn	G	T	4: 126,564,963	A280S	possibly damaging	Het
Cts3	T	G	13: 61,564,985	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,568,049	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,275,018	R386H	probably damaging	Het
Dhx58	A	T	11: 100,701,307	M305K	probably benign	Het
Dlgap3	T	C	4: 127,235,494	L894P	probably damaging	Het
Dnah3	A	T	7: 119,975,076	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,902,283	N183S	probably benign	Het
Drd5	G	T	5: 38,320,747	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,305,141	E159G	probably damaging	Het
Exoc1	T	A	5: 76,563,232	S659R	probably benign	Het
Fam214b	T	C	4: 43,036,050	H227R	probably damaging	Het
Fbln7	T	C	2: 128,877,394	I37T	probably benign	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,763,694	S304T	probably damaging	Het
Gbp9	C	A	5: 105,105,721	G43*	probably null	Het
Gm21671	T	C	5: 25,949,831	E257G	probably damaging	Het
Gucy2d	A	G	7: 98,474,661	K151R	probably benign	Het
Heatr4	T	A	12: 83,978,055	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,609,627	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrnr	A	T	3: 93,320,680	E35V	probably damaging	Het
Idua	C	T	5: 108,670,171	Q70*	probably null	Het
Klf5	A	T	14: 99,301,753	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,234,010	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,268,383	D1721E		Het
Mdh1	T	A	11: 21,571,870		probably benign	Het
Mllt11	T	C	3: 95,220,210	H83R	probably benign	Het
Mrgprb4	A	C	7: 48,198,835	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,132,470	F319S	probably damaging	Het
Naif1	A	T	2: 32,454,895	M204L	probably benign	Het
Ncan	T	A	8: 70,101,978	D1063V	probably damaging	Het
Noto	A	T	6: 85,424,345	R119W	possibly damaging	Het
Olfr1220	G	A	2: 89,097,229	L233F	probably benign	Het
Olfr147	A	T	9: 38,403,545	I224F	probably damaging	Het
Olfr573-ps1	A	T	7: 102,941,958	D206E	probably damaging	Het
Olfr816	T	A	10: 129,912,179	Y33F	probably damaging	Het
Ovch2	A	G	7: 107,794,377	W181R	probably damaging	Het
Palm	G	C	10: 79,819,283	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,072,715	L591*	probably null	Het
Pik3c2g	T	C	6: 139,896,184	S772P		Het
Prx	C	A	7: 27,517,986	D776E	probably benign	Het
Ptpra	A	G	2: 130,542,446	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,757,331	Y25C	probably damaging	Het
Reln	T	C	5: 21,931,429	T2534A	probably benign	Het
Rnf123	T	C	9: 108,077,764	S14G	probably benign	Het
Rock2	A	G	12: 16,965,601	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,025	V87A	possibly damaging	Het
S100b	G	A	10: 76,257,102	G23D	probably damaging	Het
Scn9a	T	A	2: 66,526,658	M1100L	probably benign	Het
Sept11	T	A	5: 93,148,407	S55T	possibly damaging	Het
Sv2b	T	A	7: 75,119,928	Q622L	probably benign	Het
Taar7a	T	C	10: 23,992,901	D194G	probably benign	Het
Trappc3	T	C	4: 126,275,221	I168T	probably benign	Het
Trim27	T	C	13: 21,190,126		probably null	Het
Wdr49	G	A	3: 75,397,052	T109I	probably benign	Het
Zfp219	A	T	14: 52,009,592	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,374,848	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,662,908	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,682,137	A289T	probably benign	Het
Zscan5b	T	C	7: 6,231,526	S184P	possibly 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
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
R8124:Wdr64	UTSW	1	175799278	splice site	probably null
R8129:Wdr64	UTSW	1	175775588	missense	probably damaging	0.96
R8673:Wdr64	UTSW	1	175806018	missense	probably damaging	1.00
R8728:Wdr64	UTSW	1	175731513	missense	probably benign	0.01
R8786:Wdr64	UTSW	1	175808761	nonsense	probably null
R8822:Wdr64	UTSW	1	175717354	missense	probably damaging	1.00
R8842:Wdr64	UTSW	1	175772327	missense	probably benign	0.02
R8887:Wdr64	UTSW	1	175772284	missense	probably benign	0.17
R9014:Wdr64	UTSW	1	175698829	missense	probably benign
R9330:Wdr64	UTSW	1	175726458	missense	possibly damaging	0.93
R9332:Wdr64	UTSW	1	175772305	missense	possibly damaging	0.71
R9465:Wdr64	UTSW	1	175791257	missense	possibly damaging	0.53
R9716:Wdr64	UTSW	1	175795092	missense	probably benign
Z1088:Wdr64	UTSW	1	175705985	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TTGGTGCGTGATGACTCCTC -3'
(R):5'- CTTTAGAAATAGTGTGTTCCCAGTG -3'

Sequencing Primer
(F):5'- GGAAAAGTGTCAATGTCTCCTCTGC -3'
(R):5'- AGAAATAGTGTGTTCCCAGTGCTCAG -3'

Posted On

2022-10-06