Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4418001:Wdr64'

555555

Institutional Source

Beutler Lab

Gene Symbol

Wdr64

Ensembl Gene

ENSMUSG00000026523

Gene Name

WD repeat domain 64

Synonyms

4930511H01Rik, 4930415O10Rik

Accession Numbers

Ncbi RefSeq: NM_029453.2; MGI:1923070

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

PIT4418001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

175698593-175815734 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 175743594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 331 (Y331*)

Ref Sequence

ENSEMBL: ENSMUSP00000128678 (fasta)

Gene Model

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

AlphaFold

Q9D565

Predicted Effect

probably null
Transcript: ENSMUST00000094288
AA Change: Y341*

SMART Domains

Protein: ENSMUSP00000091846
Gene: ENSMUSG00000026523
AA Change: Y341*

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 null
Transcript: ENSMUST00000171939
AA Change: Y331*

SMART Domains

Protein: ENSMUSP00000128678
Gene: ENSMUSG00000026523
AA Change: Y331*

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 null
Transcript: ENSMUST00000194087
AA Change: Y331*

SMART Domains

Protein: ENSMUSP00000141740
Gene: ENSMUSG00000026523
AA Change: Y331*

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

Coding Region Coverage

1x: 93.3%
3x: 90.8%
10x: 84.7%
20x: 71.4%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	T	C	6: 88,839,648	Y100C	possibly damaging	Het
Adamtsl1	T	C	4: 86,243,724	Y365H	probably damaging	Het
Atad2b	A	T	12: 5,024,587	I1049F	probably benign	Het
Atg9b	A	T	5: 24,385,515	S859T	possibly damaging	Het
Banp	G	A	8: 122,005,626	A380T	probably damaging	Het
Brinp3	C	T	1: 146,901,423	T536I	probably damaging	Het
Cacna1c	T	C	6: 118,654,423	E1155G		Het
Capn12	T	C	7: 28,886,536	S270P	probably benign	Het
Cbs	A	T	17: 31,615,521	I498N	possibly damaging	Het
Ccdc129	T	G	6: 55,968,345	S684A	probably damaging	Het
Cep68	T	C	11: 20,239,731	K427R	probably benign	Het
Cobl	G	A	11: 12,256,240	T545I	possibly damaging	Het
Cr2	T	A	1: 195,157,452	M556L	probably benign	Het
Crebbp	A	G	16: 4,114,825	S1068P	probably benign	Het
D2hgdh	C	T	1: 93,838,868	H385Y	possibly damaging	Het
Dennd1b	T	C	1: 139,081,261	L159P		Het
Dnajb4	A	T	3: 152,193,497	F31I	possibly damaging	Het
Dnajc16	A	G	4: 141,770,949	F369S	probably damaging	Het
Dtl	A	T	1: 191,541,317	L493H	possibly damaging	Het
Efcab5	T	A	11: 77,132,051	Q612L	possibly damaging	Het
Efr3b	A	T	12: 3,980,490	L407Q	possibly damaging	Het
Ehbp1	T	A	11: 22,053,494	Q1085L	probably damaging	Het
Ell	T	C	8: 70,581,681	V199A	probably damaging	Het
Elmod2	G	T	8: 83,321,542	T97K	probably benign	Het
Epn3	T	C	11: 94,496,130	E138G	probably damaging	Het
Esf1	A	T	2: 140,159,777	F383L	probably benign	Het
Fam193a	A	T	5: 34,440,535	T559S	probably damaging	Het
Galr2	T	C	11: 116,283,258	V238A	probably benign	Het
Gm3476	T	C	14: 6,118,411	I237M	probably benign	Het
Gm5160	A	T	18: 14,425,282	I139F	probably damaging	Het
Gpr15	T	C	16: 58,717,950	T259A	probably benign	Het
Iffo1	A	G	6: 125,149,783	K293E	possibly damaging	Het
Ikbip	T	A	10: 91,096,533	H346Q	probably benign	Het
Il4ra	G	A	7: 125,576,338	G573S	probably benign	Het
Ing2	A	T	8: 47,669,090	M141K	probably benign	Het
Itga6	T	C	2: 71,834,070	S517P	probably benign	Het
Kcnab1	A	G	3: 65,358,320	E295G	probably benign	Het
Klhl21	A	C	4: 152,015,378	Y515S	possibly damaging	Het
Lcn9	A	T	2: 25,824,541	Y139F	probably damaging	Het
Mcemp1	G	T	8: 3,667,052	L64F	probably null	Het
Mos	T	C	4: 3,870,814	D334G	possibly damaging	Het
Myo9b	T	G	8: 71,322,947	F338V	probably damaging	Het
Nefl	G	A	14: 68,086,530	V406M	probably damaging	Het
Nfam1	C	A	15: 83,001,488	R181L	probably damaging	Het
Ntn5	A	G	7: 45,686,501	R119G	probably damaging	Het
Olfr1145	G	T	2: 87,810,594	C258F	probably damaging	Het
Olfr1453	A	T	19: 13,027,731	Y199*	probably null	Het
Olfr19	T	C	16: 16,673,855	N42S	probably damaging	Het
Plch2	A	T	4: 154,989,503	V914E	probably damaging	Het
Ppp1r12c	T	C	7: 4,501,267	Q111R	probably null	Het
Ptchd3	T	A	11: 121,841,740	Y485*	probably null	Het
Ptchd4	T	A	17: 42,503,089	I627N	probably damaging	Het
Retnlb	T	C	16: 48,817,268	V19A	probably benign	Het
Rimbp2	T	A	5: 128,780,361	T809S	probably benign	Het
Sema6c	T	A	3: 95,170,090	D404E	possibly damaging	Het
Slc22a16	C	T	10: 40,603,825	A631V	unknown	Het
Snai3	A	T	8: 122,456,334	H157Q	probably benign	Het
Snx15	T	C	19: 6,123,931	Y52C	probably damaging	Het
Strbp	T	C	2: 37,645,492	E68G	probably benign	Het
Sun1	T	A	5: 139,226,588	D155E	probably damaging	Het
Susd2	T	C	10: 75,638,349	D627G	probably benign	Het
Tas2r108	T	A	6: 40,493,680	I30K	probably damaging	Het
Tmc2	T	C	2: 130,248,651	V639A	probably damaging	Het
Trmt1	T	C	8: 84,697,670	Y445H	probably damaging	Het
Ttn	A	T	2: 76,767,210	N19786K	probably damaging	Het
Vmn1r79	T	G	7: 12,176,839	V216G	probably damaging	Het
Zfyve28	A	T	5: 34,233,377	V180E	probably damaging	Het
Zic4	C	T	9: 91,379,394	T234I	possibly damaging	Het

Other mutations in Wdr64

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Wdr64	APN	1	175698800	missense	probably benign	0.00
IGL00902:Wdr64	APN	1	175728825	missense	probably damaging	1.00
IGL01347:Wdr64	APN	1	175720333	missense	probably benign	0.12
IGL01353:Wdr64	APN	1	175731585	missense	probably damaging	0.96
IGL01583:Wdr64	APN	1	175767156	critical splice donor site	probably null
IGL01643:Wdr64	APN	1	175772311	missense	probably damaging	1.00
IGL01673:Wdr64	APN	1	175800356	missense	possibly damaging	0.68
IGL01992:Wdr64	APN	1	175706071	missense	probably damaging	1.00
IGL02613:Wdr64	APN	1	175767047	nonsense	probably null
IGL02834:Wdr64	APN	1	175805849	splice site	probably benign
IGL03214:Wdr64	APN	1	175743635	splice site	probably benign
IGL03305:Wdr64	APN	1	175755586	missense	possibly damaging	0.94
IGL03308:Wdr64	APN	1	175766996	unclassified	probably benign
R0036:Wdr64	UTSW	1	175728930	nonsense	probably null
R0041:Wdr64	UTSW	1	175726471	nonsense	probably null
R0041:Wdr64	UTSW	1	175726471	nonsense	probably null
R0079:Wdr64	UTSW	1	175795102	missense	probably benign	0.02
R0380:Wdr64	UTSW	1	175769642	splice site	probably benign
R0486:Wdr64	UTSW	1	175795203	splice site	probably benign
R0520:Wdr64	UTSW	1	175726392	missense	probably damaging	1.00
R0598:Wdr64	UTSW	1	175805899	missense	probably damaging	1.00
R0711:Wdr64	UTSW	1	175772185	missense	probably benign	0.39
R0746:Wdr64	UTSW	1	175792973	missense	possibly damaging	0.92
R0927:Wdr64	UTSW	1	175793081	missense	probably damaging	0.97
R0947:Wdr64	UTSW	1	175775749	missense	probably benign
R1014:Wdr64	UTSW	1	175755626	missense	probably damaging	1.00
R1332:Wdr64	UTSW	1	175795140	missense	possibly damaging	0.82
R1416:Wdr64	UTSW	1	175806002	missense	probably benign	0.01
R1421:Wdr64	UTSW	1	175767150	missense	possibly damaging	0.85
R1467:Wdr64	UTSW	1	175775722	missense	probably benign	0.00
R1467:Wdr64	UTSW	1	175775722	missense	probably benign	0.00
R1796:Wdr64	UTSW	1	175717331	missense	probably damaging	1.00
R1797:Wdr64	UTSW	1	175812019	missense	probably damaging	1.00
R2145:Wdr64	UTSW	1	175767095	missense	probably benign	0.01
R2321:Wdr64	UTSW	1	175795087	missense	possibly damaging	0.57
R2449:Wdr64	UTSW	1	175698913	missense	probably benign
R4049:Wdr64	UTSW	1	175805856	missense	probably benign	0.21
R4155:Wdr64	UTSW	1	175769606	missense	probably benign	0.03
R4624:Wdr64	UTSW	1	175772263	missense	probably benign
R4661:Wdr64	UTSW	1	175726494	missense	probably damaging	1.00
R4711:Wdr64	UTSW	1	175799229	missense	probably damaging	1.00
R4891:Wdr64	UTSW	1	175698779	unclassified	probably benign
R4925:Wdr64	UTSW	1	175724702	splice site	probably null
R4943:Wdr64	UTSW	1	175720316	missense	probably benign	0.01
R5000:Wdr64	UTSW	1	175726375	splice site	probably null
R5001:Wdr64	UTSW	1	175792959	critical splice acceptor site	probably null
R5143:Wdr64	UTSW	1	175726413	missense	probably damaging	1.00
R5395:Wdr64	UTSW	1	175755598	missense	probably damaging	1.00
R5813:Wdr64	UTSW	1	175812057	missense	possibly damaging	0.89
R6014:Wdr64	UTSW	1	175805990	missense	possibly damaging	0.56
R6417:Wdr64	UTSW	1	175726390	missense	probably damaging	1.00
R6456:Wdr64	UTSW	1	175785609	critical splice donor site	probably null
R6555:Wdr64	UTSW	1	175720290	missense	probably damaging	1.00
R6576:Wdr64	UTSW	1	175805928	missense	possibly damaging	0.82
R6797:Wdr64	UTSW	1	175810610	critical splice donor site	probably null
R6891:Wdr64	UTSW	1	175706068	missense	probably damaging	1.00
R6959:Wdr64	UTSW	1	175705989	missense	probably damaging	1.00
R7205:Wdr64	UTSW	1	175789933	missense	probably benign	0.34
R7252:Wdr64	UTSW	1	175775674	missense	probably benign	0.00
R7552:Wdr64	UTSW	1	175785581	missense	possibly damaging	0.71
R7732:Wdr64	UTSW	1	175789929	missense	probably benign
R7777:Wdr64	UTSW	1	175789998	missense	possibly damaging	0.71
R7780:Wdr64	UTSW	1	175728976	missense	probably damaging	1.00
R7810:Wdr64	UTSW	1	175731526	missense	probably benign	0.01
R7833:Wdr64	UTSW	1	175763945	missense	probably damaging	1.00
R7843:Wdr64	UTSW	1	175812102	missense	probably benign	0.00
R7887:Wdr64	UTSW	1	175785545	missense	not run
R7991:Wdr64	UTSW	1	175726485	missense	probably benign	0.36
R8124:Wdr64	UTSW	1	175799278	splice site	probably null
R8129:Wdr64	UTSW	1	175775588	missense	probably damaging	0.96
R8673:Wdr64	UTSW	1	175806018	missense	probably damaging	1.00
R8728:Wdr64	UTSW	1	175731513	missense	probably benign	0.01
R8786:Wdr64	UTSW	1	175808761	nonsense	probably null
R8822:Wdr64	UTSW	1	175717354	missense	probably damaging	1.00
R8842:Wdr64	UTSW	1	175772327	missense	probably benign	0.02
R8887:Wdr64	UTSW	1	175772284	missense	probably benign	0.17
R9014:Wdr64	UTSW	1	175698829	missense	probably benign
R9330:Wdr64	UTSW	1	175726458	missense	possibly damaging	0.93
R9332:Wdr64	UTSW	1	175772305	missense	possibly damaging	0.71
R9465:Wdr64	UTSW	1	175791257	missense	possibly damaging	0.53
R9716:Wdr64	UTSW	1	175795092	missense	probably benign
R9717:Wdr64	UTSW	1	175717288	missense	probably damaging	1.00
Z1088:Wdr64	UTSW	1	175705985	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TAGGTATCCTGATCCCTCGG -3'
(R):5'- GAAGGCTTTGTTAAAGTATGACTCC -3'

Sequencing Primer
(F):5'- AGGTATCCTGATCCCTCGGAATTAG -3'
(R):5'- CATATCCAATACCTGCAGTGAATGG -3'

Posted On

2019-06-07