Mutagenetix > Incidental Mutations

Incidental Mutation 'R6767:Wdr59'

531989

Institutional Source

Beutler Lab

Gene Symbol

Wdr59

Ensembl Gene

ENSMUSG00000031959

Gene Name

WD repeat domain 59

Synonyms

5430401O09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6767 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111448797-111522092 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111476101 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 603 (S603R)

Ref Sequence

ENSEMBL: ENSMUSP00000043671 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034437
AA Change: S603R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: S603R

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 damaging
Transcript: ENSMUST00000038193
AA Change: S603R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: S603R

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

possibly damaging
Transcript: ENSMUST00000211981
AA Change: S603R

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak7	A	G	12: 105,766,607	N537D	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Atp8a2	A	G	14: 60,046,722	F47S	probably damaging	Het
Cadps	T	A	14: 12,550,888	T449S	probably damaging	Het
Ccdc33	C	G	9: 58,033,244	Q489H	possibly damaging	Het
Cd163	T	G	6: 124,304,779	S14A	possibly damaging	Het
Cemip	G	A	7: 83,998,624	L83F	probably damaging	Het
Chrd	C	T	16: 20,738,626	P665L	probably benign	Het
Cib4	T	A	5: 30,534,245	H44L	probably benign	Het
Clic1	T	A	17: 35,053,053	L99Q	probably benign	Het
Cnst	C	T	1: 179,609,954	T361I	possibly damaging	Het
Dnah6	C	A	6: 73,133,608	V1613L	probably benign	Het
Dnajb8	T	C	6: 88,222,652	S57P	probably damaging	Het
Dyrk3	T	C	1: 131,129,590	H282R	probably damaging	Het
Fasn	T	C	11: 120,817,487	I651V	possibly damaging	Het
Gas6	A	G	8: 13,465,784	S663P	probably damaging	Het
Gbp8	T	C	5: 105,018,612	M284V	probably benign	Het
Gm12695	T	C	4: 96,762,696		probably null	Het
Gm17359	A	T	3: 79,430,023	D46V	probably benign	Het
Gm5346	G	A	8: 43,626,914	T91I	probably damaging	Het
Gm6034	T	A	17: 36,043,131	M1K	probably null	Het
Gm9376	A	G	14: 118,267,236	T27A	unknown	Het
Grid2	A	G	6: 63,931,015	D213G	probably benign	Het
Gsdma3	A	T	11: 98,637,884	D388V	possibly damaging	Het
Hdac9	T	A	12: 34,287,529	H716L	probably damaging	Het
Hist1h4b	T	A	13: 23,757,022	M1K	probably null	Het
Hivep1	T	C	13: 42,154,727	S148P	probably damaging	Het
Kctd1	T	C	18: 15,062,175	T464A	possibly damaging	Het
Kera	A	G	10: 97,609,172	D131G	possibly damaging	Het
Kif2c	C	T	4: 117,178,188	R21Q	probably benign	Het
Luc7l3	G	T	11: 94,292,953	D453E	probably damaging	Het
Mrpl9	A	G	3: 94,450,221		probably benign	Het
Mtss1	T	C	15: 58,953,581	S257G	probably benign	Het
N4bp2	T	C	5: 65,817,187	F1467L	probably damaging	Het
Naa25	T	C	5: 121,439,865	V945A	probably damaging	Het
Nrg1	T	C	8: 31,917,895	I103M	probably damaging	Het
Olfr1369-ps1	C	T	13: 21,116,057	R122C	probably benign	Het
Orm3	C	T	4: 63,356,294	T32I	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Plch1	A	T	3: 63,755,344	M246K	probably damaging	Het
Pld4	A	C	12: 112,764,115	D144A	possibly damaging	Het
Prelp	C	A	1: 133,912,710	V345L	probably benign	Het
Rnf121	A	G	7: 102,023,412	F238L	probably damaging	Het
Rnf40	A	G	7: 127,596,585	K667R	possibly damaging	Het
Scgb1b12	A	T	7: 32,334,495	N60I	probably damaging	Het
Serpina3n	T	G	12: 104,409,062	V131G	probably benign	Het
Slc22a21	T	C	11: 53,979,502	Y119C	probably damaging	Het
Slc22a28	A	G	19: 8,117,045	F204S	probably damaging	Het
Smc6	T	A	12: 11,271,820	D29E	possibly damaging	Het
Smgc	T	A	15: 91,841,398	F40Y	possibly damaging	Het
Sorcs3	G	T	19: 48,713,571	L630F	probably damaging	Het
Sphk1	A	G	11: 116,536,156	K306E	possibly damaging	Het
Spsb1	C	T	4: 149,906,844	G89D	probably damaging	Het
Stat4	G	T	1: 52,076,583	M227I	probably benign	Het
Syngr4	A	G	7: 45,887,491	V116A	possibly damaging	Het
Tacc1	T	C	8: 25,240,800	M1V	probably null	Het
Tcf7l1	T	G	6: 72,631,292	K355Q	probably damaging	Het
Tmem192	T	C	8: 64,964,236	S36P	probably damaging	Het
Top3a	G	T	11: 60,750,753	N368K	possibly damaging	Het
Tpk1	T	A	6: 43,346,793	I241F	possibly damaging	Het
Trappc10	A	G	10: 78,193,511	I1064T	possibly damaging	Het
Vmn1r18	T	A	6: 57,390,221	K116M	probably damaging	Het
Vmn2r40	A	T	7: 8,920,140	H407Q	unknown	Het
Vmn2r91	T	A	17: 18,107,545	L467H	probably damaging	Het
Wwc2	A	G	8: 47,900,791	Y103H	possibly damaging	Het
Zfp324	A	C	7: 12,970,600	K74N	probably null	Het
Zfyve16	A	G	13: 92,508,199	L1165P	probably damaging	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
R1144:Wdr59	UTSW	8	111486944	missense	probably benign	0.09
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
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
R7944:Wdr59	UTSW	8	111494280	missense
R7990:Wdr59	UTSW	8	111460756	splice site	probably null
X0026:Wdr59	UTSW	8	111479340	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCAACTGAGAGCATCACAGC -3'
(R):5'- ACTCAGACTGCCCCAATTTT -3'

Sequencing Primer
(F):5'- GAGAGCATCACAGCAATGACTGTTC -3'
(R):5'- ACATTTGTGTGTGTGTTGGATTCCC -3'

Posted On

2018-08-29