Mutagenetix > Incidental Mutation

Incidental Mutation 'R0947:Wdr64'

81647

Institutional Source

Beutler Lab

Gene Symbol

Wdr64

Ensembl Gene

ENSMUSG00000026523

Gene Name

WD repeat domain 64

Synonyms

4930415O10Rik, 4930511H01Rik

MMRRC Submission

039086-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0947 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

175526159-175643300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 175603315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 198 (Y198N)

Ref Sequence

ENSEMBL: ENSMUSP00000141384 (fasta)

Gene Model

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

AlphaFold

Q9D565

Predicted Effect

probably benign
Transcript: ENSMUST00000094288
AA Change: Y649N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091846
Gene: ENSMUSG00000026523
AA Change: Y649N

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: Y639N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128678
Gene: ENSMUSG00000026523
AA Change: Y639N

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: Y639N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141740
Gene: ENSMUSG00000026523
AA Change: Y639N

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: Y198N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141384
Gene: ENSMUSG00000026523
AA Change: Y198N

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: 99.2%
3x: 98.2%
10x: 95.4%
20x: 89.2%

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
Aldh7a1	A	T	18: 56,693,910 (GRCm39)		probably null	Het
Atm	A	G	9: 53,415,392 (GRCm39)	V833A	probably benign	Het
Atp6v1b1	A	T	6: 83,730,814 (GRCm39)	I180F	probably damaging	Het
Cwf19l2	T	C	9: 3,421,286 (GRCm39)	S188P	probably benign	Het
Gdpd1	T	G	11: 86,928,707 (GRCm39)	E240D	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Htt	T	C	5: 35,056,268 (GRCm39)	S2681P	probably damaging	Het
Itgad	A	G	7: 127,774,865 (GRCm39)	D40G	probably benign	Het
Krt18	A	G	15: 101,939,163 (GRCm39)	Y249C	possibly damaging	Het
Lrp2	G	T	2: 69,318,182 (GRCm39)	P2090T	probably damaging	Het
Lrrc32	A	G	7: 98,148,090 (GRCm39)	D290G	probably benign	Het
Man1a	A	T	10: 53,809,619 (GRCm39)	Y486*	probably null	Het
Mcm9	CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC	CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC	10: 53,413,597 (GRCm39)		probably benign	Het
Nin	A	T	12: 70,107,960 (GRCm39)	C211S	probably damaging	Het
Npat	A	C	9: 53,481,624 (GRCm39)	I1111L	probably benign	Het
Or5p79	A	G	7: 108,221,879 (GRCm39)	I287V	probably benign	Het
Or9i1b	T	A	19: 13,896,535 (GRCm39)	H50Q	probably benign	Het
Pbx1	A	G	1: 168,030,935 (GRCm39)	S228P	probably damaging	Het
Pcsk7	G	T	9: 45,822,470 (GRCm39)	R230L	probably damaging	Het
Prom2	G	T	2: 127,380,183 (GRCm39)	Q350K	possibly damaging	Het
Racgap1	C	T	15: 99,522,195 (GRCm39)	A458T	possibly damaging	Het
Rsf1	T	A	7: 97,318,985 (GRCm39)	C912S	probably damaging	Het
Setd2	G	A	9: 110,377,579 (GRCm39)	E465K	possibly damaging	Het
Sgk2	T	A	2: 162,848,758 (GRCm39)	D269E	probably benign	Het
Spsb1	T	C	4: 149,991,536 (GRCm39)	T11A	probably benign	Het
Tln2	A	T	9: 67,203,095 (GRCm39)	S509T	probably benign	Het
Trim5	A	T	7: 103,914,958 (GRCm39)	D370E	probably damaging	Het
Ttn	T	A	2: 76,715,574 (GRCm39)		probably benign	Het
Ubr2	C	A	17: 47,252,038 (GRCm39)	G1501C	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r93	A	T	17: 18,524,343 (GRCm39)	R112S	probably benign	Het
Vps26b	T	C	9: 26,924,077 (GRCm39)	Y222C	probably damaging	Het
Xrn1	A	T	9: 95,880,316 (GRCm39)	K752I	possibly damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp386	T	C	12: 116,023,398 (GRCm39)	I372T	probably benign	Het
Zfp804a	T	C	2: 82,089,062 (GRCm39)	Y964H	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
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
R1421:Wdr64	UTSW	1	175,594,716 (GRCm39)	missense	possibly damaging	0.85
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'- CAGCTCAAAGGAAACAATTCATTGAACCAT -3'
(R):5'- GGTTAGTGTGAGGGACTGTTATTGAGGA -3'

Sequencing Primer
(F):5'- AGTTTCTTCTTCAAAAGGGAAAGG -3'
(R):5'- atggaggtagaaagatggtaagg -3'

Posted On

2013-11-08