Mutagenetix > Incidental Mutation

Incidental Mutation 'R1421:Wdr64'

159799

Institutional Source

Beutler Lab

Gene Symbol

Wdr64

Ensembl Gene

ENSMUSG00000026523

Gene Name

WD repeat domain 64

Synonyms

4930415O10Rik, 4930511H01Rik

MMRRC Submission

039477-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

175526159-175643300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 175594716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 479 (I479T)

Ref Sequence

ENSEMBL: ENSMUSP00000128678 (fasta)

Gene Model

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

AlphaFold

Q9D565

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094288
AA Change: I489T

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091846
Gene: ENSMUSG00000026523
AA Change: I489T

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

possibly damaging
Transcript: ENSMUST00000171939
AA Change: I479T

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128678
Gene: ENSMUSG00000026523
AA Change: I479T

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

possibly damaging
Transcript: ENSMUST00000194087
AA Change: I479T

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141740
Gene: ENSMUSG00000026523
AA Change: I479T

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

possibly damaging
Transcript: ENSMUST00000194783
AA Change: I38T

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141384
Gene: ENSMUSG00000026523
AA Change: I38T

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

0.3644

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

96% (54/56)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,923 (GRCm39)	T1344A	probably benign	Het
Abcf1	G	A	17: 36,271,801 (GRCm39)	A375V	probably damaging	Het
Adam20	T	A	8: 41,249,784 (GRCm39)	H631Q	possibly damaging	Het
Adcy10	T	C	1: 165,391,516 (GRCm39)	S1258P	probably damaging	Het
Agtpbp1	A	G	13: 59,643,389 (GRCm39)	I717T	possibly damaging	Het
Ahnak	T	A	19: 8,992,995 (GRCm39)	F4760I	possibly damaging	Het
Ano6	A	G	15: 95,811,266 (GRCm39)	K122R	probably benign	Het
Arhgap5	T	C	12: 52,563,631 (GRCm39)	C201R	probably damaging	Het
Atg16l1	T	C	1: 87,714,080 (GRCm39)		probably benign	Het
Cdhr3	A	T	12: 33,110,291 (GRCm39)	I331K	probably damaging	Het
Coq8a	A	G	1: 179,998,006 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,942,511 (GRCm39)	V662A	probably damaging	Het
Cspg4	T	A	9: 56,803,910 (GRCm39)	M1667K	probably benign	Het
Dnah7a	A	G	1: 53,580,032 (GRCm39)		probably benign	Het
Dnajc6	A	T	4: 101,468,513 (GRCm39)	Y251F	probably damaging	Het
Dpy19l4	A	T	4: 11,304,011 (GRCm39)	M133K	probably benign	Het
Emb	T	C	13: 117,408,624 (GRCm39)	Y322H	probably benign	Het
Gcm1	A	T	9: 77,966,982 (GRCm39)	H67L	probably damaging	Het
Gls2	A	T	10: 128,037,217 (GRCm39)	K253*	probably null	Het
Gm28042	T	A	2: 119,866,944 (GRCm39)	S196T	probably benign	Het
Gm43302	T	C	5: 105,365,215 (GRCm39)	T598A	probably benign	Het
Gramd1a	T	A	7: 30,842,291 (GRCm39)	Q90L	probably damaging	Het
Grhl2	A	G	15: 37,309,960 (GRCm39)	Y352C	probably damaging	Het
Ifi203-ps	T	C	1: 173,625,563 (GRCm39)		noncoding transcript	Het
Ifitm2	T	C	7: 140,534,972 (GRCm39)	I121V	probably benign	Het
Insyn2a	A	T	7: 134,500,960 (GRCm39)		probably benign	Het
Kptn	T	G	7: 15,856,949 (GRCm39)		probably benign	Het
L2hgdh	C	T	12: 69,748,092 (GRCm39)	D345N	probably benign	Het
Lgals12	T	C	19: 7,584,079 (GRCm39)	H6R	probably benign	Het
Lrrc4b	A	G	7: 44,110,475 (GRCm39)	I116V	probably benign	Het
Misp	A	G	10: 79,662,681 (GRCm39)	D366G	probably damaging	Het
Nav1	T	C	1: 135,512,748 (GRCm39)	E104G	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Parp1	T	C	1: 180,427,653 (GRCm39)		probably benign	Het
Pikfyve	G	A	1: 65,310,470 (GRCm39)	G1919D	probably damaging	Het
Pomt1	A	G	2: 32,126,765 (GRCm39)		probably benign	Het
Prrc2b	C	T	2: 32,090,990 (GRCm39)	S454F	possibly damaging	Het
Selenbp1	T	C	3: 94,851,183 (GRCm39)	S360P	probably benign	Het
Slc6a12	T	A	6: 121,336,085 (GRCm39)	I352N	probably damaging	Het
Snx9	G	A	17: 5,952,759 (GRCm39)	G197D	probably benign	Het
Ston1	T	C	17: 88,943,221 (GRCm39)	V209A	probably benign	Het
Taf7l2	A	G	10: 115,949,343 (GRCm39)	V61A	probably damaging	Het
Tex36	A	T	7: 133,197,078 (GRCm39)		probably null	Het
Tnnt3	A	G	7: 142,065,103 (GRCm39)	E108G	probably damaging	Het
Vmn2r98	T	A	17: 19,285,440 (GRCm39)	F87I	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Xrcc5	A	G	1: 72,349,636 (GRCm39)	N22D	probably benign	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp735	C	A	11: 73,601,523 (GRCm39)	L156I	probably benign	Het
Zfp820	A	T	17: 22,038,861 (GRCm39)	Y156N	possibly damaging	Het

Other mutations in Wdr64

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Wdr64	APN	1	175,526,366 (GRCm39)	missense	probably benign	0.00
IGL00902:Wdr64	APN	1	175,556,391 (GRCm39)	missense	probably damaging	1.00
IGL01347:Wdr64	APN	1	175,547,899 (GRCm39)	missense	probably benign	0.12
IGL01353:Wdr64	APN	1	175,559,151 (GRCm39)	missense	probably damaging	0.96
IGL01583:Wdr64	APN	1	175,594,722 (GRCm39)	critical splice donor site	probably null
IGL01643:Wdr64	APN	1	175,599,877 (GRCm39)	missense	probably damaging	1.00
IGL01673:Wdr64	APN	1	175,627,922 (GRCm39)	missense	possibly damaging	0.68
IGL01992:Wdr64	APN	1	175,533,637 (GRCm39)	missense	probably damaging	1.00
IGL02613:Wdr64	APN	1	175,594,613 (GRCm39)	nonsense	probably null
IGL02834:Wdr64	APN	1	175,633,415 (GRCm39)	splice site	probably benign
IGL03214:Wdr64	APN	1	175,571,201 (GRCm39)	splice site	probably benign
IGL03305:Wdr64	APN	1	175,583,152 (GRCm39)	missense	possibly damaging	0.94
IGL03308:Wdr64	APN	1	175,594,562 (GRCm39)	unclassified	probably benign
PIT4418001:Wdr64	UTSW	1	175,571,160 (GRCm39)	nonsense	probably null
R0036:Wdr64	UTSW	1	175,556,496 (GRCm39)	nonsense	probably null
R0041:Wdr64	UTSW	1	175,554,037 (GRCm39)	nonsense	probably null
R0041:Wdr64	UTSW	1	175,554,037 (GRCm39)	nonsense	probably null
R0079:Wdr64	UTSW	1	175,622,668 (GRCm39)	missense	probably benign	0.02
R0380:Wdr64	UTSW	1	175,597,208 (GRCm39)	splice site	probably benign
R0486:Wdr64	UTSW	1	175,622,769 (GRCm39)	splice site	probably benign
R0520:Wdr64	UTSW	1	175,553,958 (GRCm39)	missense	probably damaging	1.00
R0598:Wdr64	UTSW	1	175,633,465 (GRCm39)	missense	probably damaging	1.00
R0711:Wdr64	UTSW	1	175,599,751 (GRCm39)	missense	probably benign	0.39
R0746:Wdr64	UTSW	1	175,620,539 (GRCm39)	missense	possibly damaging	0.92
R0927:Wdr64	UTSW	1	175,620,647 (GRCm39)	missense	probably damaging	0.97
R0947:Wdr64	UTSW	1	175,603,315 (GRCm39)	missense	probably benign
R1014:Wdr64	UTSW	1	175,583,192 (GRCm39)	missense	probably damaging	1.00
R1332:Wdr64	UTSW	1	175,622,706 (GRCm39)	missense	possibly damaging	0.82
R1416:Wdr64	UTSW	1	175,633,568 (GRCm39)	missense	probably benign	0.01
R1467:Wdr64	UTSW	1	175,603,288 (GRCm39)	missense	probably benign	0.00
R1467:Wdr64	UTSW	1	175,603,288 (GRCm39)	missense	probably benign	0.00
R1796:Wdr64	UTSW	1	175,544,897 (GRCm39)	missense	probably damaging	1.00
R1797:Wdr64	UTSW	1	175,639,585 (GRCm39)	missense	probably damaging	1.00
R2145:Wdr64	UTSW	1	175,594,661 (GRCm39)	missense	probably benign	0.01
R2321:Wdr64	UTSW	1	175,622,653 (GRCm39)	missense	possibly damaging	0.57
R2449:Wdr64	UTSW	1	175,526,479 (GRCm39)	missense	probably benign
R4049:Wdr64	UTSW	1	175,633,422 (GRCm39)	missense	probably benign	0.21
R4155:Wdr64	UTSW	1	175,597,172 (GRCm39)	missense	probably benign	0.03
R4624:Wdr64	UTSW	1	175,599,829 (GRCm39)	missense	probably benign
R4661:Wdr64	UTSW	1	175,554,060 (GRCm39)	missense	probably damaging	1.00
R4711:Wdr64	UTSW	1	175,626,795 (GRCm39)	missense	probably damaging	1.00
R4891:Wdr64	UTSW	1	175,526,345 (GRCm39)	unclassified	probably benign
R4925:Wdr64	UTSW	1	175,552,268 (GRCm39)	splice site	probably null
R4943:Wdr64	UTSW	1	175,547,882 (GRCm39)	missense	probably benign	0.01
R5000:Wdr64	UTSW	1	175,553,941 (GRCm39)	splice site	probably null
R5001:Wdr64	UTSW	1	175,620,525 (GRCm39)	critical splice acceptor site	probably null
R5143:Wdr64	UTSW	1	175,553,979 (GRCm39)	missense	probably damaging	1.00
R5395:Wdr64	UTSW	1	175,583,164 (GRCm39)	missense	probably damaging	1.00
R5813:Wdr64	UTSW	1	175,639,623 (GRCm39)	missense	possibly damaging	0.89
R6014:Wdr64	UTSW	1	175,633,556 (GRCm39)	missense	possibly damaging	0.56
R6417:Wdr64	UTSW	1	175,553,956 (GRCm39)	missense	probably damaging	1.00
R6456:Wdr64	UTSW	1	175,613,175 (GRCm39)	critical splice donor site	probably null
R6555:Wdr64	UTSW	1	175,547,856 (GRCm39)	missense	probably damaging	1.00
R6576:Wdr64	UTSW	1	175,633,494 (GRCm39)	missense	possibly damaging	0.82
R6797:Wdr64	UTSW	1	175,638,176 (GRCm39)	critical splice donor site	probably null
R6891:Wdr64	UTSW	1	175,533,634 (GRCm39)	missense	probably damaging	1.00
R6959:Wdr64	UTSW	1	175,533,555 (GRCm39)	missense	probably damaging	1.00
R7205:Wdr64	UTSW	1	175,617,499 (GRCm39)	missense	probably benign	0.34
R7252:Wdr64	UTSW	1	175,603,240 (GRCm39)	missense	probably benign	0.00
R7552:Wdr64	UTSW	1	175,613,147 (GRCm39)	missense	possibly damaging	0.71
R7732:Wdr64	UTSW	1	175,617,495 (GRCm39)	missense	probably benign
R7777:Wdr64	UTSW	1	175,617,564 (GRCm39)	missense	possibly damaging	0.71
R7780:Wdr64	UTSW	1	175,556,542 (GRCm39)	missense	probably damaging	1.00
R7810:Wdr64	UTSW	1	175,559,092 (GRCm39)	missense	probably benign	0.01
R7833:Wdr64	UTSW	1	175,591,511 (GRCm39)	missense	probably damaging	1.00
R7843:Wdr64	UTSW	1	175,639,668 (GRCm39)	missense	probably benign	0.00
R7887:Wdr64	UTSW	1	175,613,111 (GRCm39)	missense	not run
R7991:Wdr64	UTSW	1	175,554,051 (GRCm39)	missense	probably benign	0.36
R8124:Wdr64	UTSW	1	175,626,844 (GRCm39)	splice site	probably null
R8129:Wdr64	UTSW	1	175,603,154 (GRCm39)	missense	probably damaging	0.96
R8673:Wdr64	UTSW	1	175,633,584 (GRCm39)	missense	probably damaging	1.00
R8728:Wdr64	UTSW	1	175,559,079 (GRCm39)	missense	probably benign	0.01
R8786:Wdr64	UTSW	1	175,636,327 (GRCm39)	nonsense	probably null
R8822:Wdr64	UTSW	1	175,544,920 (GRCm39)	missense	probably damaging	1.00
R8842:Wdr64	UTSW	1	175,599,893 (GRCm39)	missense	probably benign	0.02
R8887:Wdr64	UTSW	1	175,599,850 (GRCm39)	missense	probably benign	0.17
R9014:Wdr64	UTSW	1	175,526,395 (GRCm39)	missense	probably benign
R9330:Wdr64	UTSW	1	175,554,024 (GRCm39)	missense	possibly damaging	0.93
R9332:Wdr64	UTSW	1	175,599,871 (GRCm39)	missense	possibly damaging	0.71
R9465:Wdr64	UTSW	1	175,618,823 (GRCm39)	missense	possibly damaging	0.53
R9716:Wdr64	UTSW	1	175,622,658 (GRCm39)	missense	probably benign
R9717:Wdr64	UTSW	1	175,544,854 (GRCm39)	missense	probably damaging	1.00
Z1088:Wdr64	UTSW	1	175,533,551 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ACACACCCATCTTTGTGACAGCTC -3'
(R):5'- CACATGGCCTGAACTGGCTTAAAAC -3'

Sequencing Primer
(F):5'- GTGACAGCTCTCCTTTCATTCC -3'
(R):5'- tcaggaggcagaggcag -3'

Posted On

2014-03-14