Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03204:Wdr59'

413073

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr59

Ensembl Gene

ENSMUSG00000031959

Gene Name

WD repeat domain 59

Synonyms

5430401O09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03204

Quality Score

Status

Chromosome

Chromosomal Location

112175429-112248724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112212002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 356 (H356R)

Ref Sequence

ENSEMBL: ENSMUSP00000043671 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034437
AA Change: H356R

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: H356R

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: H356R

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: H356R

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: H356R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212327

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14a	A	T	9: 106,317,834 (GRCm39)	F191I	probably damaging	Het
Actc1	A	T	2: 113,880,011 (GRCm39)	S201T	possibly damaging	Het
Ankrd36	T	A	11: 5,534,023 (GRCm39)	D291E	possibly damaging	Het
Bltp1	A	G	3: 37,105,083 (GRCm39)		probably benign	Het
Btbd7	T	A	12: 102,774,239 (GRCm39)	R510*	probably null	Het
Cfap20dc	A	G	14: 8,644,436 (GRCm38)	I80T	possibly damaging	Het
Eif4a3	A	T	11: 119,184,442 (GRCm39)	D249E	possibly damaging	Het
Elovl6	A	G	3: 129,426,993 (GRCm39)	M220V	probably benign	Het
Ets1	C	T	9: 32,644,308 (GRCm39)	S156L	possibly damaging	Het
Gja8	C	T	3: 96,827,408 (GRCm39)	V85I	probably damaging	Het
Glipr2	T	A	4: 43,970,507 (GRCm39)	D7E	probably benign	Het
Il22	C	T	10: 118,041,085 (GRCm39)		probably benign	Het
Itln1	A	G	1: 171,358,172 (GRCm39)	V80A	probably damaging	Het
Kdr	A	T	5: 76,133,042 (GRCm39)	C79S	possibly damaging	Het
Kif26a	A	T	12: 112,141,213 (GRCm39)	H672L	probably damaging	Het
Klhl40	A	T	9: 121,611,696 (GRCm39)	T570S	probably benign	Het
Macf1	A	G	4: 123,249,070 (GRCm39)		probably benign	Het
Magi3	T	A	3: 104,013,151 (GRCm39)	N112I	probably damaging	Het
Moxd2	T	C	6: 40,864,239 (GRCm39)	T64A	probably benign	Het
Myh4	T	C	11: 67,141,122 (GRCm39)	V728A	possibly damaging	Het
Or8u10	G	T	2: 85,916,015 (GRCm39)	Y35*	probably null	Het
Prkdc	A	G	16: 15,587,665 (GRCm39)	I2517V	probably benign	Het
Ralgapb	A	G	2: 158,307,832 (GRCm39)	I1047V	possibly damaging	Het
Smg9	A	G	7: 24,120,337 (GRCm39)	E437G	probably benign	Het
Snx4	A	G	16: 33,090,039 (GRCm39)	K188R	probably benign	Het
Sox14	A	G	9: 99,757,110 (GRCm39)	S210P	probably benign	Het
Spata1	A	G	3: 146,194,434 (GRCm39)	F77L	probably benign	Het
Spata18	G	T	5: 73,828,449 (GRCm39)		probably benign	Het
Stard9	G	A	2: 120,536,283 (GRCm39)	D4151N	probably damaging	Het
Zfp462	A	G	4: 55,080,785 (GRCm39)	D1380G	possibly 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
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
R1921:Wdr59	UTSW	8	112,213,582 (GRCm39)	nonsense	probably null
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

Posted On

2016-08-02