Mutagenetix > Incidental Mutation

Incidental Mutation 'R7332:Wdr59'

569303

Institutional Source

Beutler Lab

Gene Symbol

Wdr59

Ensembl Gene

ENSMUSG00000031959

Gene Name

WD repeat domain 59

Synonyms

5430401O09Rik

MMRRC Submission

045425-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7332 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111448797-111522092 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111494354 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 182 (T182I)

Ref Sequence

ENSEMBL: ENSMUSP00000034437 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: T182I

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: T182I

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

SMART Domains

Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: T182I

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: T182I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	A	G	19: 56,918,121	S449P	probably damaging	Het
Atp6v0c	A	C	17: 24,169,224	S21A	probably benign	Het
Cacna1e	T	C	1: 154,725,801	Y40C	possibly damaging	Het
Cdadc1	A	G	14: 59,575,764	I398T	possibly damaging	Het
Cfap44	T	A	16: 44,429,828	D756E	probably damaging	Het
Clcnkb	A	T	4: 141,413,932	L104Q	probably null	Het
Clk1	G	A	1: 58,412,694	H421Y	probably benign	Het
Cmpk2	A	T	12: 26,478,062	D426V	probably damaging	Het
Cmya5	A	G	13: 93,092,553	L2009S	possibly damaging	Het
Col5a2	C	G	1: 45,380,165	D1252H	probably damaging	Het
Coro1b	A	G	19: 4,149,357	K5R	probably benign	Het
Csmd2	A	G	4: 128,419,567	T1346A		Het
Csrp1	G	T	1: 135,739,411	W4L	probably benign	Het
Cyp3a25	A	G	5: 145,993,007	I184T	probably damaging	Het
Egfl7	C	A	2: 26,590,713	R128S	probably benign	Het
Fggy	A	T	4: 95,623,482	N157I	probably damaging	Het
Gldc	A	T	19: 30,116,526	L697Q	probably damaging	Het
Gm10436	T	C	12: 88,176,417	T339A	possibly damaging	Het
Gm4952	T	A	19: 12,627,009	Y262N	probably damaging	Het
Gsap	T	A	5: 21,290,121	M821K	probably benign	Het
Hps1	T	C	19: 42,777,912		probably null	Het
Hsbp1l1	T	C	18: 80,236,823		probably benign	Het
Igfbp7	G	A	5: 77,351,956	T220I	probably damaging	Het
Ints3	T	C	3: 90,415,512	Q137R	probably damaging	Het
Kcna6	A	G	6: 126,739,329	F199S	possibly damaging	Het
Kirrel	T	C	3: 87,088,398	I410V	probably benign	Het
Llgl2	T	C	11: 115,848,299	V332A	probably damaging	Het
Lrrc27	A	G	7: 139,242,745	I517M	probably damaging	Het
Mas1	T	C	17: 12,842,219	T106A	probably benign	Het
Mast4	T	A	13: 102,751,424	Y1159F	possibly damaging	Het
Mmp2	A	G	8: 92,850,152	D601G	probably damaging	Het
Mycbp2	A	G	14: 103,156,453	S2891P	probably damaging	Het
Mycbp2	T	A	14: 103,197,357	I2217F	probably damaging	Het
Naip6	A	G	13: 100,300,701	V438A	possibly damaging	Het
Olfr1284	A	G	2: 111,379,393	H131R	not run	Het
Pdf	T	C	8: 107,048,541	R20G	probably benign	Het
Pfdn2	T	C	1: 171,356,594	L47P	probably damaging	Het
Pik3c2g	C	A	6: 139,896,255	N795K		Het
Ppip5k1	A	T	2: 121,311,969	V1333D	probably damaging	Het
Prss44	A	T	9: 110,815,462	I213F	probably damaging	Het
Rbm47	A	G	5: 66,026,214	Y349H	probably damaging	Het
Rcl1	A	T	19: 29,130,696	T253S	probably benign	Het
Rdh1	A	G	10: 127,759,885		probably benign	Het
Scn7a	C	T	2: 66,692,554	W935*	probably null	Het
Sec24b	T	C	3: 130,041,393	N52S	probably benign	Het
Serpinb5	A	T	1: 106,872,361	I94L	probably benign	Het
Setx	T	C	2: 29,146,626	V1041A	probably benign	Het
Slco3a1	G	A	7: 74,318,484	A496V	possibly damaging	Het
Spag5	T	A	11: 78,313,379	L486*	probably null	Het
Spink5	T	C	18: 43,982,250	I183T	probably damaging	Het
Srd5a1	T	C	13: 69,611,054	Y65C	probably benign	Het
Ssh2	T	A	11: 77,453,523	I778N	possibly damaging	Het
Sstr1	C	T	12: 58,213,386	S265L	probably damaging	Het
Syne2	T	A	12: 75,967,755		probably null	Het
Tctn1	A	T	5: 122,261,484	D92E	probably damaging	Het
Tiam2	A	G	17: 3,453,369	I940M	probably damaging	Het
Tmeff2	T	C	1: 50,979,440	W194R	unknown	Het
Tomm20	T	C	8: 126,937,153	T94A	probably benign	Het
Ucn2	A	G	9: 108,986,464	N98S	probably benign	Het
V1rd19	A	T	7: 24,003,318	I70L	probably benign	Het
Vmn1r18	A	G	6: 57,390,518	L17P	probably benign	Het
Vmn2r61	A	G	7: 42,260,110	T20A	probably benign	Het
Zfp40	A	T	17: 23,176,181	C477*	probably null	Het
Zfp68	A	G	5: 138,606,568	S498P	possibly damaging	Het
Zfp729b	T	C	13: 67,609,636		probably null	Het
Zfp846	T	G	9: 20,594,225	N460K	probably benign	Het
Zim1	T	C	7: 6,677,353	Y437C	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
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
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
R8942:Wdr59	UTSW	8	111485176	missense	probably benign
R9318:Wdr59	UTSW	8	111451068	missense
X0026:Wdr59	UTSW	8	111479340	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGACCATGCATCCCTAACGTC -3'
(R):5'- TCACACACTAAGCTGGAGC -3'

Sequencing Primer
(F):5'- ATGCATCCCTAACGTCCGTCAC -3'
(R):5'- CTGGAGCGGGTAGACATGTG -3'

Posted On

2019-09-13