Mutagenetix > Incidental Mutation

Incidental Mutation 'R1921:Wdr59'

213064

Institutional Source

Beutler Lab

Gene Symbol

Wdr59

Ensembl Gene

ENSMUSG00000031959

Gene Name

WD repeat domain 59

Synonyms

5430401O09Rik

MMRRC Submission

039939-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112175429-112248724 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 112213582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 311 (L311*)

Ref Sequence

ENSEMBL: ENSMUSP00000148397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034437] [ENSMUST00000038193] [ENSMUST00000211981]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000034437
AA Change: L311*

SMART Domains

Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: L311*

Domain	Start	End	E-Value	Type
WD40	41	91	1.37e2	SMART
WD40	94	134	9.52e-6	SMART
WD40	138	176	4.46e-1	SMART
WD40	180	220	2.59e-7	SMART
WD40	271	315	8.59e-1	SMART
RWD	393	494	4.13e-14	SMART
low complexity region	620	632	N/A	INTRINSIC
low complexity region	802	813	N/A	INTRINSIC
Blast:RING	941	980	3e-10	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000038193
AA Change: L311*

SMART Domains

Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: L311*

Domain	Start	End	E-Value	Type
WD40	41	91	1.37e2	SMART
WD40	94	134	9.52e-6	SMART
WD40	138	176	4.46e-1	SMART
WD40	180	220	2.59e-7	SMART
WD40	271	315	8.59e-1	SMART
RWD	393	494	4.13e-14	SMART
low complexity region	803	814	N/A	INTRINSIC
Pfam:Zn_ribbon_17	937	992	2e-14	PFAM
Pfam:zinc_ribbon_16	949	990	1.6e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000211981
AA Change: L311*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212327

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Abhd2	T	C	7: 78,998,104 (GRCm39)	I212T	possibly damaging	Het
Adam7	A	C	14: 68,750,074 (GRCm39)	S449A	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aox3	T	C	1: 58,219,810 (GRCm39)	Y1137H	probably damaging	Het
Atp11b	T	C	3: 35,888,474 (GRCm39)	Y715H	probably damaging	Het
Atrn	A	G	2: 130,836,971 (GRCm39)	Y1145C	probably damaging	Het
Btbd7	A	G	12: 102,760,055 (GRCm39)	I631T	probably benign	Het
Cadps	T	C	14: 12,465,859 (GRCm38)	K1017R	possibly damaging	Het
Cfap45	A	G	1: 172,372,679 (GRCm39)	E458G	probably damaging	Het
Cptp	C	T	4: 155,950,995 (GRCm39)	R157H	probably damaging	Het
Dcbld1	A	C	10: 52,195,747 (GRCm39)	E318D	possibly damaging	Het
Ddr2	G	T	1: 169,831,814 (GRCm39)	P197Q	probably damaging	Het
Dlg5	T	C	14: 24,226,639 (GRCm39)	Y421C	probably damaging	Het
Dlgap2	A	G	8: 14,893,624 (GRCm39)	K980E	probably benign	Het
Drc7	T	C	8: 95,782,644 (GRCm39)	V3A	unknown	Het
Dst	T	C	1: 34,200,110 (GRCm39)	V96A	probably damaging	Het
Ect2l	T	C	10: 18,018,752 (GRCm39)	D548G	possibly damaging	Het
Efcab10	A	T	12: 33,448,434 (GRCm39)	Y89F	probably benign	Het
Eif1ad	CGAGGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGGAGG	19: 5,420,086 (GRCm39)		probably benign	Het
Entpd6	A	G	2: 150,600,732 (GRCm39)	T147A	probably damaging	Het
Fbxl5	T	A	5: 43,922,832 (GRCm39)	E189D	probably benign	Het
Fer1l6	T	A	15: 58,497,080 (GRCm39)	S1217T	probably damaging	Het
Frem2	A	T	3: 53,560,916 (GRCm39)	V1197D	possibly damaging	Het
Fsip2	T	A	2: 82,811,127 (GRCm39)	L2482*	probably null	Het
Fsip2	A	T	2: 82,817,164 (GRCm39)	D4299V	probably benign	Het
Gipc3	T	A	10: 81,174,049 (GRCm39)	I242F	probably damaging	Het
Hoxb1	T	A	11: 96,256,938 (GRCm39)	Y96N	probably damaging	Het
Ibsp	A	G	5: 104,458,078 (GRCm39)	E205G	probably damaging	Het
Ibtk	A	G	9: 85,585,135 (GRCm39)	S1170P	probably benign	Het
Igfn1	A	G	1: 135,893,801 (GRCm39)		probably null	Het
Iqsec1	A	G	6: 90,639,877 (GRCm39)	S954P	probably benign	Het
Kalrn	A	T	16: 34,212,463 (GRCm39)	D28E	probably benign	Het
Lrmda	T	C	14: 22,627,938 (GRCm39)	F52L	probably damaging	Het
Lrp2	T	C	2: 69,353,631 (GRCm39)	D543G	probably damaging	Het
Lrrtm3	T	C	10: 63,924,157 (GRCm39)	T337A	probably benign	Het
Marf1	C	T	16: 13,946,465 (GRCm39)	D1219N	possibly damaging	Het
Mkln1	A	G	6: 31,405,113 (GRCm39)	K118R	probably benign	Het
Nedd4l	T	C	18: 65,300,646 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,525,023 (GRCm39)	E336G	probably benign	Het
Nfasc	A	G	1: 132,538,543 (GRCm39)	F448S	probably damaging	Het
Nlrx1	C	A	9: 44,165,431 (GRCm39)	E822*	probably null	Het
Nr5a1	T	C	2: 38,584,108 (GRCm39)	Y437C	probably damaging	Het
Or4c119	A	G	2: 88,986,925 (GRCm39)	V198A	probably benign	Het
Or7a37	T	A	10: 78,805,975 (GRCm39)	L164*	probably null	Het
Or8b38	T	C	9: 37,972,981 (GRCm39)	Y122H	probably damaging	Het
Phtf1	C	T	3: 103,876,438 (GRCm39)	Q13*	probably null	Het
Pnldc1	A	G	17: 13,107,815 (GRCm39)	L525P	possibly damaging	Het
Ppl	T	A	16: 4,923,988 (GRCm39)	D162V	possibly damaging	Het
Prkdc	T	A	16: 15,532,079 (GRCm39)	S1448T	possibly damaging	Het
Ptgdr	A	G	14: 45,090,738 (GRCm39)	I340T	probably benign	Het
Recql	T	C	6: 142,311,315 (GRCm39)	I458M	probably benign	Het
Rrbp1	A	T	2: 143,830,211 (GRCm39)	V652E	probably benign	Het
Rtp1	T	A	16: 23,250,160 (GRCm39)	I175N	probably damaging	Het
Ryr1	A	G	7: 28,754,369 (GRCm39)	M3523T	probably damaging	Het
S100a16	T	C	3: 90,449,703 (GRCm39)	L62P	probably damaging	Het
Samd11	T	C	4: 156,333,166 (GRCm39)	E364G	probably damaging	Het
Satb1	C	A	17: 52,049,143 (GRCm39)	G603*	probably null	Het
Shroom3	T	A	5: 93,110,224 (GRCm39)		probably null	Het
Slc25a15	A	G	8: 22,885,777 (GRCm39)	S3P	probably benign	Het
Socs2	A	T	10: 95,248,900 (GRCm39)	L71*	probably null	Het
Sptbn1	T	C	11: 30,054,469 (GRCm39)	E2208G	probably damaging	Het
St14	A	G	9: 31,001,166 (GRCm39)	V855A	possibly damaging	Het
Susd1	T	A	4: 59,412,191 (GRCm39)	T121S	probably benign	Het
Svs3b	A	T	2: 164,097,848 (GRCm39)	S158T	probably benign	Het
Synpo	C	T	18: 60,736,661 (GRCm39)	M428I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar4	A	G	10: 23,837,239 (GRCm39)	D283G	probably damaging	Het
Tango6	T	A	8: 107,415,426 (GRCm39)	D82E	probably benign	Het
Tcof1	T	C	18: 60,971,927 (GRCm39)	T127A	possibly damaging	Het
Tle3	G	A	9: 61,318,622 (GRCm39)		probably null	Het
Tmem45a	A	G	16: 56,642,665 (GRCm39)	F169L	probably benign	Het
Trp53rkb	T	A	2: 166,637,743 (GRCm39)	V233E	probably damaging	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Tubgcp3	A	T	8: 12,671,932 (GRCm39)	L770*	probably null	Het
Tut1	G	A	19: 8,943,466 (GRCm39)	G851D	probably benign	Het
Ubr1	G	A	2: 120,761,449 (GRCm39)	T576I	probably benign	Het
Vmn1r125	T	A	7: 21,006,530 (GRCm39)	Y143N	probably damaging	Het
Vmn2r120	T	A	17: 57,831,839 (GRCm39)	I317F	probably benign	Het
Vmn2r95	T	A	17: 18,644,575 (GRCm39)	N70K	probably benign	Het
Vps35l	A	G	7: 118,432,971 (GRCm39)	N568S	probably damaging	Het
Wnt2	A	G	6: 18,030,252 (GRCm39)	L12P	unknown	Het
Xrn1	T	C	9: 95,881,550 (GRCm39)	I700T	probably benign	Het
Ypel1	A	G	16: 16,900,443 (GRCm39)	H98R	probably benign	Het
Zfp219	T	C	14: 52,245,691 (GRCm39)	T434A	probably benign	Het
Zik1	A	C	7: 10,223,943 (GRCm39)	C385G	probably damaging	Het

Other mutations in Wdr59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Wdr59	APN	8	112,185,368 (GRCm39)	missense	probably damaging	0.98
IGL01330:Wdr59	APN	8	112,208,565 (GRCm39)	missense	possibly damaging	0.87
IGL01413:Wdr59	APN	8	112,227,706 (GRCm39)	missense	probably benign	0.23
IGL02306:Wdr59	APN	8	112,219,365 (GRCm39)	missense	probably damaging	1.00
IGL03027:Wdr59	APN	8	112,188,824 (GRCm39)	missense	probably damaging	1.00
IGL03057:Wdr59	APN	8	112,202,750 (GRCm39)	missense	probably damaging	1.00
IGL03204:Wdr59	APN	8	112,212,002 (GRCm39)	missense	probably benign	0.05
electron	UTSW	8	112,185,270 (GRCm39)	missense	probably benign	0.00
photon	UTSW	8	112,187,445 (GRCm39)	missense	probably benign	0.00
R0056:Wdr59	UTSW	8	112,207,239 (GRCm39)	splice site	probably benign
R0096:Wdr59	UTSW	8	112,231,005 (GRCm39)	missense	probably damaging	1.00
R0096:Wdr59	UTSW	8	112,231,005 (GRCm39)	missense	probably damaging	1.00
R0440:Wdr59	UTSW	8	112,207,172 (GRCm39)	small deletion	probably benign
R0452:Wdr59	UTSW	8	112,248,604 (GRCm39)	missense	possibly damaging	0.87
R0472:Wdr59	UTSW	8	112,213,629 (GRCm39)	critical splice acceptor site	probably null
R0501:Wdr59	UTSW	8	112,185,579 (GRCm39)	missense	possibly damaging	0.90
R0526:Wdr59	UTSW	8	112,207,172 (GRCm39)	small deletion	probably benign
R0534:Wdr59	UTSW	8	112,207,172 (GRCm39)	small deletion	probably benign
R0601:Wdr59	UTSW	8	112,207,172 (GRCm39)	small deletion	probably benign
R1144:Wdr59	UTSW	8	112,213,576 (GRCm39)	missense	probably benign	0.09
R1415:Wdr59	UTSW	8	112,225,228 (GRCm39)	missense	probably damaging	1.00
R1571:Wdr59	UTSW	8	112,177,682 (GRCm39)	missense	probably damaging	0.98
R1661:Wdr59	UTSW	8	112,205,994 (GRCm39)	missense	probably damaging	1.00
R1665:Wdr59	UTSW	8	112,205,994 (GRCm39)	missense	probably damaging	1.00
R1839:Wdr59	UTSW	8	112,211,972 (GRCm39)	missense	probably benign
R1856:Wdr59	UTSW	8	112,202,813 (GRCm39)	missense	probably damaging	1.00
R1872:Wdr59	UTSW	8	112,185,649 (GRCm39)	missense	probably damaging	1.00
R1965:Wdr59	UTSW	8	112,177,709 (GRCm39)	missense	probably damaging	1.00
R1966:Wdr59	UTSW	8	112,177,535 (GRCm39)	missense	possibly damaging	0.92
R1977:Wdr59	UTSW	8	112,185,270 (GRCm39)	missense	probably benign	0.00
R2019:Wdr59	UTSW	8	112,193,425 (GRCm39)	missense	probably damaging	1.00
R4245:Wdr59	UTSW	8	112,216,996 (GRCm39)	missense	possibly damaging	0.63
R4471:Wdr59	UTSW	8	112,193,419 (GRCm39)	critical splice donor site	probably null
R4820:Wdr59	UTSW	8	112,207,446 (GRCm39)	missense	probably benign	0.19
R5198:Wdr59	UTSW	8	112,208,620 (GRCm39)	missense	probably benign	0.00
R5540:Wdr59	UTSW	8	112,211,816 (GRCm39)	missense	possibly damaging	0.84
R5571:Wdr59	UTSW	8	112,192,463 (GRCm39)	missense	probably damaging	1.00
R6166:Wdr59	UTSW	8	112,199,293 (GRCm39)	missense	probably damaging	1.00
R6732:Wdr59	UTSW	8	112,227,684 (GRCm39)	missense	probably damaging	1.00
R6767:Wdr59	UTSW	8	112,202,733 (GRCm39)	missense	probably damaging	1.00
R6823:Wdr59	UTSW	8	112,185,672 (GRCm39)	missense	possibly damaging	0.95
R6841:Wdr59	UTSW	8	112,223,512 (GRCm39)	missense	probably damaging	1.00
R6888:Wdr59	UTSW	8	112,177,675 (GRCm39)	missense	probably benign	0.00
R6974:Wdr59	UTSW	8	112,187,420 (GRCm39)	missense	possibly damaging	0.86
R6982:Wdr59	UTSW	8	112,187,445 (GRCm39)	missense	probably benign	0.00
R7066:Wdr59	UTSW	8	112,192,477 (GRCm39)	missense	probably benign	0.07
R7154:Wdr59	UTSW	8	112,185,367 (GRCm39)	missense
R7176:Wdr59	UTSW	8	112,219,388 (GRCm39)	missense
R7286:Wdr59	UTSW	8	112,192,494 (GRCm39)	missense
R7332:Wdr59	UTSW	8	112,220,986 (GRCm39)	missense
R7537:Wdr59	UTSW	8	112,217,001 (GRCm39)	missense
R7614:Wdr59	UTSW	8	112,219,394 (GRCm39)	missense
R7758:Wdr59	UTSW	8	112,207,117 (GRCm39)	missense
R7800:Wdr59	UTSW	8	112,248,570 (GRCm39)	missense
R7861:Wdr59	UTSW	8	112,220,912 (GRCm39)	missense
R8137:Wdr59	UTSW	8	112,212,011 (GRCm39)	missense
R8726:Wdr59	UTSW	8	112,223,466 (GRCm39)	missense
R8942:Wdr59	UTSW	8	112,211,808 (GRCm39)	missense	probably benign
R9318:Wdr59	UTSW	8	112,177,700 (GRCm39)	missense
X0026:Wdr59	UTSW	8	112,205,972 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTTGGTTCTGAAGACCCCAAGC -3'
(R):5'- CCACTGCTGTCTATAACAAAATGGATG -3'

Sequencing Primer
(F):5'- TGAAGACCCCAAGCCCGTG -3'
(R):5'- TGTCACAGTGTGTCCCAAAG -3'

Posted On

2014-07-14