Mutagenetix > Incidental Mutations

Incidental Mutation 'R1415:Wdr59'

159776

Institutional Source

Beutler Lab

Gene Symbol

Wdr59

Ensembl Gene

ENSMUSG00000031959

Gene Name

WD repeat domain 59

Synonyms

5430401O09Rik

MMRRC Submission

039471-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111448797-111522092 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111498596 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 141 (P141S)

Ref Sequence

ENSEMBL: ENSMUSP00000148397 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034437
AA Change: P141S

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

SMART Domains

Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: P141S

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: P141S

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

SMART Domains

Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: P141S

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 damaging
Transcript: ENSMUST00000211981
AA Change: P141S

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,165,921	V135A	probably benign	Het
Adam21	C	T	12: 81,559,547	W480*	probably null	Het
Ccdc71	T	A	9: 108,463,208	Y73*	probably null	Het
Cfap44	T	A	16: 44,481,389	I1830N	probably damaging	Het
Dnajb11	T	C	16: 22,870,621	V264A	probably benign	Het
Fam135b	T	C	15: 71,456,928	E1174G	probably damaging	Het
Fam83e	G	A	7: 45,726,711	E283K	probably damaging	Het
Gigyf1	A	G	5: 137,519,216		probably null	Het
Gm38394	C	T	1: 133,657,818	V594M	possibly damaging	Het
Letm1	A	T	5: 33,769,562	N130K	probably benign	Het
Lrp1b	T	C	2: 40,629,664	Y137C	probably damaging	Het
Map3k2	A	G	18: 32,228,277	I597V	possibly damaging	Het
Nek1	A	G	8: 61,089,686	E770G	probably benign	Het
Olfr462	A	C	11: 87,889,647	V83G	possibly damaging	Het
Olfr667	A	G	7: 104,916,336	I320T	probably benign	Het
Pank2	T	A	2: 131,282,718	Y68*	probably null	Het
Prl2c2	G	C	13: 13,002,201	T47R	probably damaging	Het
Secisbp2l	C	A	2: 125,740,365	G1057V	probably benign	Het
Slc30a2	C	T	4: 134,349,349	T265M	probably damaging	Het
Smarca2	A	G	19: 26,710,684	E1239G	probably null	Het
Snx30	C	T	4: 59,879,261	R167C	probably damaging	Het
Tmem26	T	C	10: 68,778,661	F302S	possibly damaging	Het
Tpgs2	A	G	18: 25,168,553	L19S	probably damaging	Het
Trp53bp1	T	G	2: 121,236,184	E687A	probably damaging	Het
Ttc27	C	T	17: 74,739,672	H243Y	probably benign	Het
Wdfy4	A	T	14: 33,041,180	V2318D	possibly damaging	Het
Zfp787	C	A	7: 6,132,695	G186C	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
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
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'- TTGGAGCAGAGTCAGGTCAGCATC -3'
(R):5'- TGTCACACATCACACATGGGCTAC -3'

Sequencing Primer
(F):5'- TCAGGTCAGCATCTGGCAC -3'
(R):5'- GAACCCAGGCTTTCTTATCTGAAG -3'

Posted On

2014-03-14