Mutagenetix > Incidental Mutations

Incidental Mutation 'R1144:Wdr59'

102286

Institutional Source

Beutler Lab

Gene Symbol

Wdr59

Ensembl Gene

ENSMUSG00000031959

Gene Name

WD repeat domain 59

Synonyms

5430401O09Rik

MMRRC Submission

039217-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1144 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111448797-111522092 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111486944 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 313 (M313K)

Ref Sequence

ENSEMBL: ENSMUSP00000043671 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034437
AA Change: M313K

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: M313K

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 benign
Transcript: ENSMUST00000038193
AA Change: M313K

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: M313K

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 benign
Transcript: ENSMUST00000211981
AA Change: M313K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212327

Meta Mutation Damage Score

0.3443

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 120,360,860		probably benign	Het
Abcc5	A	T	16: 20,422,438		probably benign	Het
Acsl5	A	C	19: 55,291,843	D516A	probably damaging	Het
Adcy1	G	A	11: 7,137,400	A425T	probably damaging	Het
Aebp1	A	G	11: 5,868,475	T107A	probably benign	Het
Arhgef33	T	C	17: 80,355,044	S219P	probably benign	Het
Atm	T	G	9: 53,511,698		probably benign	Het
C1ql2	A	C	1: 120,342,537	Y276S	probably damaging	Het
Cacna2d1	T	C	5: 16,322,597		probably null	Het
Cmbl	A	G	15: 31,581,874	N6D	probably benign	Het
Cntn3	A	G	6: 102,242,126	V511A	possibly damaging	Het
Coq9	C	A	8: 94,842,623	R28S	probably benign	Het
Creld1	T	C	6: 113,483,961	F20S	probably benign	Het
Dcstamp	A	G	15: 39,760,368	K404E	possibly damaging	Het
Dip2b	T	A	15: 100,154,250	I244K	probably benign	Het
Dnhd1	G	A	7: 105,713,031	E3700K	probably damaging	Het
Dnmt3l	T	A	10: 78,051,905	C110S	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fgfr1	T	G	8: 25,558,143	V172G	probably damaging	Het
Frem3	C	A	8: 80,611,884	Q269K	probably benign	Het
Frmd6	C	A	12: 70,877,168	H67N	probably damaging	Het
Fry	A	G	5: 150,418,464	T1532A	possibly damaging	Het
Git2	G	T	5: 114,753,314	S243R	probably benign	Het
Grid1	A	G	14: 35,562,676		probably benign	Het
Grp	A	G	18: 65,879,970	D69G	probably damaging	Het
Hmbox1	A	T	14: 64,825,683	L347Q	probably damaging	Het
Hrasls5	A	G	19: 7,613,330	D74G	probably benign	Het
Hsh2d	C	T	8: 72,193,592		probably benign	Het
Itpr3	G	A	17: 27,114,923	S2018N	probably benign	Het
Kif13b	T	A	14: 64,714,117	V69D	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lmcd1	T	A	6: 112,310,751		probably benign	Het
Megf9	C	A	4: 70,534,624	A67S	probably benign	Het
Myo5b	G	A	18: 74,625,587	R213H	probably damaging	Het
Myo5c	T	A	9: 75,286,448	Y1162N	probably damaging	Het
Nphs1	A	G	7: 30,481,678		probably benign	Het
Ntrk1	G	A	3: 87,781,542	T568I	probably damaging	Het
Pcmtd1	A	G	1: 7,120,481	H58R	probably damaging	Het
Plxna4	A	T	6: 32,197,156	I1168N	possibly damaging	Het
Ppm1h	A	G	10: 122,941,278	D483G	probably benign	Het
Prdm15	G	A	16: 97,808,708	R579C	probably damaging	Het
Prickle1	T	A	15: 93,512,461	R41W	probably damaging	Het
Rbm19	A	G	5: 120,123,016	D235G	possibly damaging	Het
Smco2	A	G	6: 146,871,140		probably benign	Het
Sned1	G	C	1: 93,280,576	G785R	probably damaging	Het
Stat4	A	G	1: 52,084,129		probably benign	Het
Syne2	T	A	12: 75,966,524	F2830I	probably benign	Het
Tbc1d9	A	G	8: 83,236,571	D304G	possibly damaging	Het
Thsd7a	G	A	6: 12,471,027		probably benign	Het
Tmem63b	T	A	17: 45,666,427	K383N	probably benign	Het
Trp53rka	C	A	2: 165,493,041		probably benign	Het
Trub1	G	A	19: 57,485,131	V207M	probably benign	Het
Ulk2	A	T	11: 61,800,060	C551S	possibly damaging	Het
Urb1	A	T	16: 90,776,318		probably null	Het
Vmn1r219	C	A	13: 23,163,213	Q191K	probably damaging	Het
Vmn2r1	A	T	3: 64,090,120	D399V	probably damaging	Het
Vmn2r87	A	G	10: 130,476,229		probably benign	Het
Wars	A	T	12: 108,888,365	L41*	probably null	Het
Washc2	G	A	6: 116,224,534	E64K	probably damaging	Het
Washc4	G	A	10: 83,580,330	R828Q	probably damaging	Het
Wscd2	G	A	5: 113,561,090		probably null	Het
Zdhhc20	A	C	14: 57,856,678	L176V	probably benign	Het

Other mutations in Wdr59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Wdr59	APN	8	111458736	missense	probably damaging	0.98
IGL01330:Wdr59	APN	8	111481933	missense	possibly damaging	0.87
IGL01413:Wdr59	APN	8	111501074	missense	probably benign	0.23
IGL02306:Wdr59	APN	8	111492733	missense	probably damaging	1.00
IGL03027:Wdr59	APN	8	111462192	missense	probably damaging	1.00
IGL03057:Wdr59	APN	8	111476118	missense	probably damaging	1.00
IGL03204:Wdr59	APN	8	111485370	missense	probably benign	0.05
electron	UTSW	8	111458638	missense	probably benign	0.00
photon	UTSW	8	111460813	missense	probably benign	0.00
R0056:Wdr59	UTSW	8	111480607	splice site	probably benign
R0096:Wdr59	UTSW	8	111504373	missense	probably damaging	1.00
R0096:Wdr59	UTSW	8	111504373	missense	probably damaging	1.00
R0440:Wdr59	UTSW	8	111480540	small deletion	probably benign
R0452:Wdr59	UTSW	8	111521972	missense	possibly damaging	0.87
R0472:Wdr59	UTSW	8	111486997	critical splice acceptor site	probably null
R0501:Wdr59	UTSW	8	111458947	missense	possibly damaging	0.90
R0526:Wdr59	UTSW	8	111480540	small deletion	probably benign
R0534:Wdr59	UTSW	8	111480540	small deletion	probably benign
R0601:Wdr59	UTSW	8	111480540	small deletion	probably benign
R1415:Wdr59	UTSW	8	111498596	missense	probably damaging	1.00
R1571:Wdr59	UTSW	8	111451050	missense	probably damaging	0.98
R1661:Wdr59	UTSW	8	111479362	missense	probably damaging	1.00
R1665:Wdr59	UTSW	8	111479362	missense	probably damaging	1.00
R1839:Wdr59	UTSW	8	111485340	missense	probably benign
R1856:Wdr59	UTSW	8	111476181	missense	probably damaging	1.00
R1872:Wdr59	UTSW	8	111459017	missense	probably damaging	1.00
R1921:Wdr59	UTSW	8	111486950	nonsense	probably null
R1965:Wdr59	UTSW	8	111451077	missense	probably damaging	1.00
R1966:Wdr59	UTSW	8	111450903	missense	possibly damaging	0.92
R1977:Wdr59	UTSW	8	111458638	missense	probably benign	0.00
R2019:Wdr59	UTSW	8	111466793	missense	probably damaging	1.00
R4245:Wdr59	UTSW	8	111490364	missense	possibly damaging	0.63
R4471:Wdr59	UTSW	8	111466787	critical splice donor site	probably null
R4820:Wdr59	UTSW	8	111480814	missense	probably benign	0.19
R5198:Wdr59	UTSW	8	111481988	missense	probably benign	0.00
R5540:Wdr59	UTSW	8	111485184	missense	possibly damaging	0.84
R5571:Wdr59	UTSW	8	111465831	missense	probably damaging	1.00
R6166:Wdr59	UTSW	8	111472661	missense	probably damaging	1.00
R6732:Wdr59	UTSW	8	111501052	missense	probably damaging	1.00
R6767:Wdr59	UTSW	8	111476101	missense	probably damaging	1.00
R6823:Wdr59	UTSW	8	111459040	missense	possibly damaging	0.95
R6841:Wdr59	UTSW	8	111496880	missense	probably damaging	1.00
R6888:Wdr59	UTSW	8	111451043	missense	probably benign	0.00
R6974:Wdr59	UTSW	8	111460788	missense	possibly damaging	0.86
R6982:Wdr59	UTSW	8	111460813	missense	probably benign	0.00
R7066:Wdr59	UTSW	8	111465845	missense	probably benign	0.07
R7154:Wdr59	UTSW	8	111458735	missense
R7176:Wdr59	UTSW	8	111492756	missense
R7286:Wdr59	UTSW	8	111465862	missense
R7332:Wdr59	UTSW	8	111494354	missense
R7537:Wdr59	UTSW	8	111490369	missense
R7614:Wdr59	UTSW	8	111492762	missense
R7758:Wdr59	UTSW	8	111480485	missense
R7800:Wdr59	UTSW	8	111521938	missense
R7861:Wdr59	UTSW	8	111494280	missense
R8137:Wdr59	UTSW	8	111485379	missense
R8726:Wdr59	UTSW	8	111496834	missense
X0026:Wdr59	UTSW	8	111479340	missense	possibly damaging	0.95

Predicted Primers

Posted On

2014-01-15