Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01992:Wdr64'

183557

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr64

Ensembl Gene

ENSMUSG00000026523

Gene Name

WD repeat domain 64

Synonyms

4930415O10Rik, 4930511H01Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01992

Quality Score

Status

Chromosome

Chromosomal Location

175526159-175643300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 175533637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 91 (C91Y)

Ref Sequence

ENSEMBL: ENSMUSP00000141740 (fasta)

Gene Model

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

AlphaFold

Q9D565

Predicted Effect

probably damaging
Transcript: ENSMUST00000094288
AA Change: C91Y

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

SMART Domains

Protein: ENSMUSP00000091846
Gene: ENSMUSG00000026523
AA Change: C91Y

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: C91Y

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

SMART Domains

Protein: ENSMUSP00000128678
Gene: ENSMUSG00000026523
AA Change: C91Y

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: C91Y

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

SMART Domains

Protein: ENSMUSP00000141740
Gene: ENSMUSG00000026523
AA Change: C91Y

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

noncoding transcript
Transcript: ENSMUST00000195794

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano3	A	G	2: 110,488,564 (GRCm39)	M956T	probably damaging	Het
Ap2b1	T	G	11: 83,226,356 (GRCm39)	V289G	probably damaging	Het
Cacnb4	G	T	2: 52,355,682 (GRCm39)	H208Q	probably damaging	Het
Calhm6	A	T	10: 34,003,533 (GRCm39)	C125S	probably damaging	Het
Cd5l	G	A	3: 87,275,118 (GRCm39)	R219Q	probably benign	Het
Dzip1l	G	T	9: 99,545,739 (GRCm39)	G663W	probably damaging	Het
Ecel1	G	A	1: 87,077,577 (GRCm39)		probably benign	Het
Eno1	A	G	4: 150,323,993 (GRCm39)	T19A	probably damaging	Het
Fndc3a	G	A	14: 72,811,996 (GRCm39)	T315I	probably benign	Het
Galr1	T	C	18: 82,411,942 (GRCm39)	N308S	probably damaging	Het
Get3	G	A	8: 85,745,185 (GRCm39)	A294V	possibly damaging	Het
Maf	A	T	8: 116,432,702 (GRCm39)	S301T	probably damaging	Het
Map3k5	C	T	10: 19,904,879 (GRCm39)	R394*	probably null	Het
Mroh8	C	T	2: 157,055,616 (GRCm39)	G994D	probably damaging	Het
Myo10	T	C	15: 25,799,634 (GRCm39)	V653A	possibly damaging	Het
Nucks1	A	G	1: 131,858,828 (GRCm39)	K196E	unknown	Het
Nup42	T	C	5: 24,386,101 (GRCm39)	V211A	probably benign	Het
Or4n4	C	A	14: 50,518,798 (GRCm39)	R304L	probably benign	Het
Or7e178	A	T	9: 20,226,015 (GRCm39)	I59N	probably damaging	Het
Or7g32	A	T	9: 19,408,070 (GRCm39)	I9F	probably benign	Het
Piwil1	C	T	5: 128,824,396 (GRCm39)	T493I	probably null	Het
Plcd1	T	C	9: 118,905,053 (GRCm39)	H216R	probably benign	Het
Pmp2	A	T	3: 10,247,541 (GRCm39)	Y49*	probably null	Het
Rnf38	A	G	4: 44,138,806 (GRCm39)	V229A	probably damaging	Het
Saxo2	T	C	7: 82,284,108 (GRCm39)	D250G	probably damaging	Het
Scn8a	T	G	15: 100,866,938 (GRCm39)	V98G	probably damaging	Het
Scnn1a	T	A	6: 125,315,900 (GRCm39)		probably null	Het
Sepsecs	C	T	5: 52,801,402 (GRCm39)	R420Q	probably benign	Het
Slit2	T	C	5: 48,395,759 (GRCm39)	S725P	probably benign	Het
Stk16	A	G	1: 75,189,835 (GRCm39)	Q207R	probably benign	Het
Tapt1	C	T	5: 44,336,332 (GRCm39)	V446M	probably damaging	Het
Tent5c	A	T	3: 100,379,946 (GRCm39)	M270K	probably damaging	Het
Tex56	C	T	13: 35,108,516 (GRCm39)		probably null	Het
Tnni3k	A	C	3: 154,667,663 (GRCm39)	V250G	probably damaging	Het
Ttll8	C	T	15: 88,799,848 (GRCm39)	G531E	possibly damaging	Het
U2surp	T	A	9: 95,346,472 (GRCm39)	E862D	possibly damaging	Het
U2surp	A	G	9: 95,364,234 (GRCm39)	F561L	probably damaging	Het
Unc5d	A	G	8: 29,142,819 (GRCm39)	Y878H	probably damaging	Het
Ust	A	G	10: 8,173,842 (GRCm39)	M221T	probably benign	Het
Wasf3	T	C	5: 146,392,401 (GRCm39)	F157S	probably damaging	Het
Zan	T	C	5: 137,422,368 (GRCm39)	Y2750C	unknown	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
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
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

Posted On

2014-05-07