Mutagenetix > Incidental Mutation

Incidental Mutation 'R4711:Wdr64'

353249

Institutional Source

Beutler Lab

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 #

R4711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

175526159-175643300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 175626795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 838 (I838T)

Ref Sequence

ENSEMBL: ENSMUSP00000141740 (fasta)

Gene Model

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

AlphaFold

Q9D565

Predicted Effect

probably damaging
Transcript: ENSMUST00000094288
AA Change: I848T

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

SMART Domains

Protein: ENSMUSP00000091846
Gene: ENSMUSG00000026523
AA Change: I848T

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

noncoding transcript
Transcript: ENSMUST00000104606

Predicted Effect

probably damaging
Transcript: ENSMUST00000171939
AA Change: I838T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128678
Gene: ENSMUSG00000026523
AA Change: I838T

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: I838T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141740
Gene: ENSMUSG00000026523
AA Change: I838T

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 damaging
Transcript: ENSMUST00000194783
AA Change: I397T

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

SMART Domains

Protein: ENSMUSP00000141384
Gene: ENSMUSG00000026523
AA Change: I397T

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.7%

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
Atg14	G	A	14: 47,783,298 (GRCm39)	R346C	probably damaging	Het
Bin3	A	G	14: 70,366,288 (GRCm39)		probably null	Het
Ccser1	A	G	6: 61,288,910 (GRCm39)	N358D	possibly damaging	Het
Col20a1	G	C	2: 180,634,284 (GRCm39)	G83A	probably damaging	Het
Copa	T	G	1: 171,947,555 (GRCm39)	F1124V	probably damaging	Het
Cyp2c66	G	A	19: 39,151,843 (GRCm39)	R186H	possibly damaging	Het
Dmxl2	G	A	9: 54,358,208 (GRCm39)	T323M	probably benign	Het
Dner	T	C	1: 84,361,618 (GRCm39)	I664V	possibly damaging	Het
Erp29	A	G	5: 121,583,293 (GRCm39)	I211T	possibly damaging	Het
Exd1	A	G	2: 119,369,232 (GRCm39)	S128P	possibly damaging	Het
Grik4	T	A	9: 42,540,389 (GRCm39)	N264Y	probably damaging	Het
Gsdma2	T	A	11: 98,540,439 (GRCm39)	S119R	probably damaging	Het
H2ac1	C	T	13: 24,118,796 (GRCm39)	P118S	possibly damaging	Het
Ift140	T	A	17: 25,313,691 (GRCm39)		probably null	Het
Ino80c	T	C	18: 24,247,222 (GRCm39)	N59S	probably benign	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Mast4	A	G	13: 103,470,627 (GRCm39)	V25A	probably benign	Het
Mr1	T	C	1: 155,012,336 (GRCm39)	T193A	probably benign	Het
Muc5b	C	A	7: 141,399,770 (GRCm39)	F414L	unknown	Het
Nat10	A	T	2: 103,578,612 (GRCm39)	C197*	probably null	Het
Nt5c1b	A	G	12: 10,420,093 (GRCm39)	K11E	probably damaging	Het
Or5k8	A	T	16: 58,645,069 (GRCm39)	M1K	probably null	Het
Or8i2	T	C	2: 86,852,370 (GRCm39)	I173V	probably damaging	Het
Pak5	A	G	2: 135,929,437 (GRCm39)	I582T	probably damaging	Het
Pcdha12	A	G	18: 37,153,976 (GRCm39)	I232V	probably benign	Het
Pde8b	T	A	13: 95,166,958 (GRCm39)	T664S	probably benign	Het
Pdik1l	G	C	4: 134,006,301 (GRCm39)	R214G	probably benign	Het
Prss37	C	T	6: 40,492,381 (GRCm39)	V157M	probably benign	Het
Psma5-ps	A	G	10: 85,149,667 (GRCm39)		noncoding transcript	Het
Ring1	T	C	17: 34,241,333 (GRCm39)	E261G	possibly damaging	Het
Sf3a3	C	A	4: 124,621,974 (GRCm39)	D371E	probably benign	Het
Spag9	T	A	11: 94,005,177 (GRCm39)		probably null	Het
Spred1	T	A	2: 117,005,866 (GRCm39)	S209R	probably benign	Het
Tas2r121	T	C	6: 132,677,853 (GRCm39)	T40A	probably benign	Het
Tbc1d5	T	C	17: 51,242,537 (GRCm39)	T187A	probably damaging	Het
Tenm2	C	T	11: 36,191,039 (GRCm39)	V311I	probably damaging	Het
Thoc2l	T	C	5: 104,667,527 (GRCm39)	V683A	probably damaging	Het
Tnrc6a	A	G	7: 122,770,301 (GRCm39)	D697G	probably damaging	Het
Trappc14	T	C	5: 138,261,167 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,660,404 (GRCm39)	A7439V	possibly damaging	Het
Wdr7	A	G	18: 63,861,536 (GRCm39)	T183A	probably benign	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
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
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'- CAAACCCAGGATTTCTCAAATGCTAG -3'
(R):5'- AGCAGAGTCTGTACTTGGAGAG -3'

Sequencing Primer
(F):5'- CCAGGATTTCTCAAATGCTAGGCAAG -3'
(R):5'- TACTTGGAGAGTACGGAGGAAG -3'

Posted On

2015-10-21