Mutagenetix > Incidental Mutation

Incidental Mutation 'R1796:Wdr64'

202213

Institutional Source

Beutler Lab

Gene Symbol

Wdr64

Ensembl Gene

ENSMUSG00000026523

Gene Name

WD repeat domain 64

Synonyms

4930415O10Rik, 4930511H01Rik

MMRRC Submission

039826-MU

Accession Numbers

Essential gene?

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

Stock #

R1796 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

175526159-175643300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 175544897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 110 (E110V)

Ref Sequence

ENSEMBL: ENSMUSP00000128678 (fasta)

Gene Model

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

AlphaFold

Q9D565

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094288
AA Change: E110V

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091846
Gene: ENSMUSG00000026523
AA Change: E110V

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: E110V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128678
Gene: ENSMUSG00000026523
AA Change: E110V

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: E110V

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141740
Gene: ENSMUSG00000026523
AA Change: E110V

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

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	A	12: 84,662,156 (GRCm39)	S30F	probably benign	Het
Abtb1	T	C	6: 88,813,601 (GRCm39)	D379G	possibly damaging	Het
Adgre1	A	G	17: 57,748,350 (GRCm39)	I517V	probably benign	Het
Ajm1	C	T	2: 25,468,000 (GRCm39)	G637D	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Angpt4	G	A	2: 151,780,909 (GRCm39)	V386M	probably damaging	Het
Asic1	A	G	15: 99,594,535 (GRCm39)	H360R	probably null	Het
Asxl1	G	A	2: 153,243,526 (GRCm39)	A1359T	probably benign	Het
Atp8a2	C	T	14: 60,258,207 (GRCm39)		probably null	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
C1qtnf2	T	A	11: 43,382,114 (GRCm39)	F279I	probably damaging	Het
Car8	A	T	4: 8,221,671 (GRCm39)	L100*	probably null	Het
Cd52	T	C	4: 133,822,295 (GRCm39)	M1V	probably null	Het
Celf5	T	C	10: 81,303,053 (GRCm39)	I163V	possibly damaging	Het
Cep250	A	T	2: 155,834,107 (GRCm39)	T2010S	possibly damaging	Het
Cfap65	C	T	1: 74,958,107 (GRCm39)	V934M	probably damaging	Het
Colec11	A	T	12: 28,644,858 (GRCm39)	I212N	probably damaging	Het
Cpa3	C	T	3: 20,277,391 (GRCm39)		probably null	Het
Ctnnd1	G	T	2: 84,445,553 (GRCm39)	H495N	probably damaging	Het
Cyb5a	T	C	18: 84,869,686 (GRCm39)	V28A	probably benign	Het
Ddo	A	T	10: 40,523,625 (GRCm39)	Q205L	probably benign	Het
Dnah1	T	A	14: 30,983,050 (GRCm39)	N4195I	probably benign	Het
E2f1	A	T	2: 154,402,849 (GRCm39)	V306E	probably benign	Het
Ece1	C	T	4: 137,685,312 (GRCm39)	R601W	probably damaging	Het
Eef1d	A	C	15: 75,773,024 (GRCm39)	F25C	probably damaging	Het
Ehd3	A	T	17: 74,137,354 (GRCm39)	I508F	probably damaging	Het
Eml6	T	A	11: 29,831,975 (GRCm39)	I232F	probably benign	Het
Enc1	T	A	13: 97,382,991 (GRCm39)	D500E	probably benign	Het
Enc1	C	A	13: 97,382,993 (GRCm39)	T501K	possibly damaging	Het
Fam83f	C	T	15: 80,574,283 (GRCm39)	R213W	possibly damaging	Het
Fbxo31	A	T	8: 122,287,177 (GRCm39)	L158*	probably null	Het
Fcgbpl1	C	T	7: 27,854,797 (GRCm39)	P1808S	probably damaging	Het
Foxi3	C	A	6: 70,937,794 (GRCm39)	T342N	possibly damaging	Het
Gpr179	T	A	11: 97,227,382 (GRCm39)	D1591V	possibly damaging	Het
Gpsm2	A	G	3: 108,609,166 (GRCm39)	V151A	probably damaging	Het
Grk2	T	G	19: 4,337,968 (GRCm39)	I513L	probably benign	Het
H2-Ab1	A	G	17: 34,486,346 (GRCm39)	E135G	probably damaging	Het
Herc1	A	T	9: 66,296,138 (GRCm39)	K578*	probably null	Het
Hycc1	T	G	5: 24,191,149 (GRCm39)	T173P	probably damaging	Het
Itpr2	T	C	6: 146,198,171 (GRCm39)	N1533S	probably benign	Het
Kif3c	A	G	12: 3,417,299 (GRCm39)	N440S	probably benign	Het
Klhdc2	T	C	12: 69,347,071 (GRCm39)		probably null	Het
Kmo	G	T	1: 175,465,461 (GRCm39)	V72L	probably benign	Het
Krt71	A	G	15: 101,651,315 (GRCm39)	I56T	possibly damaging	Het
Krt72	T	C	15: 101,689,987 (GRCm39)		probably null	Het
Krt78	T	A	15: 101,859,300 (GRCm39)	Q299L	probably damaging	Het
Loxhd1	C	T	18: 77,493,603 (GRCm39)	R1521C	probably damaging	Het
Loxhd1	G	A	18: 77,513,335 (GRCm39)	E1774K	possibly damaging	Het
Ly6g6f	T	C	17: 35,302,478 (GRCm39)	S20G	probably benign	Het
Mecr	T	A	4: 131,592,382 (GRCm39)	M282K	probably damaging	Het
Mfsd14a	G	T	3: 116,428,596 (GRCm39)	A353D	probably damaging	Het
Mroh9	A	T	1: 162,873,279 (GRCm39)	N564K	probably damaging	Het
Mrs2	T	A	13: 25,181,111 (GRCm39)	T237S	possibly damaging	Het
Mycbpap	A	G	11: 94,398,377 (GRCm39)	L534S	probably damaging	Het
Myh1	T	C	11: 67,115,183 (GRCm39)	I1906T	probably benign	Het
Myh4	T	A	11: 67,151,150 (GRCm39)	V1935D	probably benign	Het
Myo18a	T	C	11: 77,720,170 (GRCm39)	I684T	possibly damaging	Het
Myo7b	C	T	18: 32,119,728 (GRCm39)	R788H	possibly damaging	Het
Nbea	A	T	3: 55,551,129 (GRCm39)	D2678E	possibly damaging	Het
Ndufs3	A	C	2: 90,729,050 (GRCm39)	Y145*	probably null	Het
Nrros	A	G	16: 31,962,329 (GRCm39)	F563L	probably damaging	Het
Ntn4	T	C	10: 93,581,633 (GRCm39)	V602A	probably damaging	Het
Obscn	C	A	11: 58,920,163 (GRCm39)	R6736L	possibly damaging	Het
Odr4	T	C	1: 150,251,305 (GRCm39)	N283S	probably benign	Het
Or13c7d	T	A	4: 43,770,495 (GRCm39)	D172V	possibly damaging	Het
Or2ag16	T	C	7: 106,351,756 (GRCm39)	I280V	probably benign	Het
Or7g22	C	A	9: 19,049,213 (GRCm39)	T308K	probably benign	Het
Or8d1	T	A	9: 38,766,820 (GRCm39)	V154D	probably benign	Het
Or8g54	C	T	9: 39,707,301 (GRCm39)	P210L	possibly damaging	Het
Or8g55	A	G	9: 39,785,267 (GRCm39)	E232G	probably benign	Het
Pik3cd	A	G	4: 149,738,576 (GRCm39)	F751L	possibly damaging	Het
Plekhh2	A	G	17: 84,906,561 (GRCm39)		probably null	Het
Postn	A	G	3: 54,281,177 (GRCm39)	H434R	probably damaging	Het
Prss39	A	G	1: 34,539,114 (GRCm39)	D118G	possibly damaging	Het
Ralyl	G	T	3: 14,208,493 (GRCm39)	G211V	possibly damaging	Het
Rbak	T	A	5: 143,159,202 (GRCm39)	E617V	probably damaging	Het
Rbms3	A	T	9: 116,548,401 (GRCm39)	W80R	probably damaging	Het
Retnlg	A	T	16: 48,694,610 (GRCm39)	Y86F	probably benign	Het
Rtel1	T	A	2: 180,993,896 (GRCm39)	S643T	probably benign	Het
Semp2l2a	A	T	8: 13,886,816 (GRCm39)	L425*	probably null	Het
Serpina11	A	T	12: 103,950,954 (GRCm39)	F256I	probably damaging	Het
Setd2	A	T	9: 110,379,413 (GRCm39)	Y1076F	probably benign	Het
Setd2	A	T	9: 110,446,884 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,421,483 (GRCm39)	T248A	possibly damaging	Het
Slc6a21	T	C	7: 44,930,179 (GRCm39)	Y193H	probably damaging	Het
Slfn9	T	C	11: 82,872,781 (GRCm39)	K652E	probably benign	Het
Stt3b	A	T	9: 115,077,675 (GRCm39)	Y692*	probably null	Het
Sval3	A	G	6: 41,945,096 (GRCm39)	Q8R	probably benign	Het
Synm	T	A	7: 67,383,748 (GRCm39)	I1305F	possibly damaging	Het
Tdrd1	T	C	19: 56,826,215 (GRCm39)	F169L	probably damaging	Het
Tecta	T	A	9: 42,295,493 (GRCm39)	D334V	probably damaging	Het
Tle2	G	A	10: 81,425,331 (GRCm39)		probably null	Het
Tmem243	A	G	5: 9,166,489 (GRCm39)	I30V	probably benign	Het
Treml2	T	C	17: 48,616,530 (GRCm39)	*330R	probably null	Het
Trpm6	A	G	19: 18,804,931 (GRCm39)	D961G	possibly damaging	Het
Ubr4	T	C	4: 139,155,907 (GRCm39)	V2244A	probably benign	Het
Unc79	G	T	12: 103,109,005 (GRCm39)	V2148F	probably damaging	Het
Ush2a	A	C	1: 188,643,024 (GRCm39)	T4129P	probably benign	Het
Vgll2	G	A	10: 51,901,324 (GRCm39)	V85I	probably damaging	Het
Vmn1r16	T	C	6: 57,300,256 (GRCm39)	Y122C	probably benign	Het
Vmn1r22	A	T	6: 57,877,134 (GRCm39)	I91N	probably damaging	Het
Vmn2r70	A	T	7: 85,213,011 (GRCm39)	Y465*	probably null	Het
Wfdc6a	A	T	2: 164,422,231 (GRCm39)	C123S	probably damaging	Het
Xrcc1	A	G	7: 24,247,252 (GRCm39)	Y30C	probably damaging	Het
Zdhhc7	T	C	8: 120,812,157 (GRCm39)	K155R	probably benign	Het
Zfp560	A	G	9: 20,263,226 (GRCm39)	F50S	possibly damaging	Het
Zfp616	C	T	11: 73,976,671 (GRCm39)	T980I	probably damaging	Het
Zfp808	C	T	13: 62,319,670 (GRCm39)	P300S	probably damaging	Het
Zfp979	G	A	4: 147,697,740 (GRCm39)	T323I	probably 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
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
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'- TCGGACATTGTAAAGCAAGGC -3'
(R):5'- AGAAGCTGTCAGTTTCAATTACAGG -3'

Sequencing Primer
(F):5'- TTGTAAAGCAAGGCACATTCC -3'
(R):5'- GTCAGTTTCAATTACAGGTAGTTCC -3'

Posted On

2014-06-23