Mutagenetix > Incidental Mutations

Incidental Mutation 'R1416:Wdr64'

159558

Institutional Source

Beutler Lab

Gene Symbol

Wdr64

Ensembl Gene

ENSMUSG00000026523

Gene Name

WD repeat domain 64

Synonyms

4930511H01Rik, 4930415O10Rik

MMRRC Submission

039472-MU

Accession Numbers

Ncbi RefSeq: NM_029453.2; MGI:1923070

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1416 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

175698593-175815734 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 175806002 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 940 (T940A)

Ref Sequence

ENSEMBL: ENSMUSP00000128678 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000094288
AA Change: T950A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000091846
Gene: ENSMUSG00000026523
AA Change: T950A

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 benign
Transcript: ENSMUST00000171939
AA Change: T940A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000128678
Gene: ENSMUSG00000026523
AA Change: T940A

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 benign
Transcript: ENSMUST00000194087
AA Change: T940A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000141740
Gene: ENSMUSG00000026523
AA Change: T940A

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
AA Change: T499A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000141384
Gene: ENSMUSG00000026523
AA Change: T499A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

94% (63/67)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	T	15: 8,246,938	Q2689*	probably null	Het
4932429P05Rik	A	T	X: 89,753,677	M372L	probably benign	Het
Acad11	T	C	9: 104,073,623	S49P	probably damaging	Het
Afm	T	C	5: 90,526,379	I250T	possibly damaging	Het
Alox5	G	A	6: 116,423,145	Q278*	probably null	Het
Anxa7	G	A	14: 20,462,707	R253C	probably damaging	Het
Arfgef1	T	A	1: 10,172,939	T1059S	probably damaging	Het
Arpp21	T	C	9: 112,179,129	E101G	probably damaging	Het
Bcr	A	T	10: 75,061,506	I161F	possibly damaging	Het
Ccdc141	T	C	2: 77,014,796	E1309G	probably damaging	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Cep41	C	T	6: 30,657,357	S233N	probably damaging	Het
Col5a1	T	G	2: 27,922,064	S53A	unknown	Het
Efnb2	A	G	8: 8,622,329		probably null	Het
Epb41l5	T	C	1: 119,549,876		probably benign	Het
Eri2	A	G	7: 119,791,174	F77S	probably damaging	Het
Ern1	C	T	11: 106,421,980		probably benign	Het
Eya3	T	C	4: 132,707,129		probably benign	Het
Fam122b	T	C	X: 53,246,146	*256W	probably null	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Icos	T	C	1: 60,994,643	L144P	probably damaging	Het
Ipo8	A	G	6: 148,789,093	V717A	probably benign	Het
Lrp12	T	C	15: 39,878,623	E232G	probably damaging	Het
Lrp1b	A	G	2: 40,998,216	I2344T	probably damaging	Het
Mettl5	A	T	2: 69,871,289	F207I	possibly damaging	Het
Mtor	G	T	4: 148,491,414	E1342*	probably null	Het
Nrap	A	G	19: 56,327,293	Y1360H	possibly damaging	Het
Nsun7	T	C	5: 66,261,080	V51A	probably damaging	Het
Olfr1065	T	C	2: 86,445,320	I221V	probably benign	Het
Olfr1160	T	A	2: 88,006,571	Y60F	probably damaging	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Olfr235	C	A	19: 12,268,894	F221L	probably benign	Het
Olfr467	T	C	7: 107,815,262	L228P	probably damaging	Het
Otud6b	A	C	4: 14,818,473	L143V	probably damaging	Het
Pp2d1	T	C	17: 53,515,807	N77S	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Raly	G	T	2: 154,857,353	G26*	probably null	Het
Rarb	T	C	14: 16,435,177	M290V	possibly damaging	Het
Rusc2	A	G	4: 43,421,617	E679G	possibly damaging	Het
Scap	T	C	9: 110,384,773	V1268A	probably damaging	Het
Setd1b	C	T	5: 123,160,685		probably benign	Het
Shisa3	C	G	5: 67,611,434	P226A	probably benign	Het
Smox	C	T	2: 131,522,131	S481F	probably damaging	Het
Stard9	T	C	2: 120,700,972	V2570A	probably benign	Het
Sucla2	C	T	14: 73,560,634		probably benign	Het
Sult4a1	C	T	15: 84,086,646	R186Q	probably benign	Het
Taf2	G	T	15: 55,038,410	A796E	possibly damaging	Het
Taf4b	T	C	18: 14,821,427		probably benign	Het
Thbs4	G	T	13: 92,761,533	Q593K	probably benign	Het
Tigd3	T	C	19: 5,891,725	D459G	probably benign	Het
Tmem168	A	T	6: 13,591,401	L472Q	probably damaging	Het
Tmem169	G	T	1: 72,300,716	V102F	probably damaging	Het
Tmem241	T	C	18: 11,993,574	T274A	probably benign	Het
Trip10	A	G	17: 57,250,800	Y28C	probably damaging	Het
Ubp1	T	C	9: 113,970,171	V398A	probably benign	Het
Ubr3	A	G	2: 69,945,071	Y567C	probably damaging	Het
Uckl1	A	T	2: 181,569,569	M489K	possibly damaging	Het
Ush2a	C	T	1: 188,436,883	P1074S	probably damaging	Het
Vmn1r62	T	C	7: 5,675,905	V195A	probably damaging	Het
Vmn2r63	T	A	7: 42,927,915	I400L	probably benign	Het
Vmn2r67	T	A	7: 85,151,616	I371F	probably benign	Het
Zfp105	A	T	9: 122,930,677	Y471F	probably damaging	Het
Zfp287	A	T	11: 62,714,340	H580Q	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
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
Z1088:Wdr64	UTSW	1	175705985	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TATGCTCTATGGCCCGTGCTCAAG -3'
(R):5'- CCATGAAAACCCTGGGAGTGCTAAG -3'

Sequencing Primer
(F):5'- CCCGTGCTCAAGCTCAC -3'
(R):5'- GGCCCCATATGTAGGACTATATC -3'

Posted On

2014-03-14