Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02453:Wdr45'

293742

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr45

Ensembl Gene

ENSMUSG00000039382

Gene Name

WD repeat domain 45

Synonyms

JM5, Wdrx1, DXImx38e, Sfc19, C79260

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

IGL02453

Quality Score

Status

Chromosome

Chromosomal Location

7588193-7594440 bp(+) (GRCm39)

Type of Mutation

splice site (4433 bp from exon)

DNA Base Change (assembly)

T to C at 7593520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033489] [ENSMUST00000033490] [ENSMUST00000043045] [ENSMUST00000115687] [ENSMUST00000115688] [ENSMUST00000115689] [ENSMUST00000116633] [ENSMUST00000116634] [ENSMUST00000207386] [ENSMUST00000207337] [ENSMUST00000125991] [ENSMUST00000131077] [ENSMUST00000144148] [ENSMUST00000154253] [ENSMUST00000156000] [ENSMUST00000148624] [ENSMUST00000208618] [ENSMUST00000207461] [ENSMUST00000208156] [ENSMUST00000207675] [ENSMUST00000208443] [ENSMUST00000207589] [ENSMUST00000208719] [ENSMUST00000208528] [ENSMUST00000208553] [ENSMUST00000208072] [ENSMUST00000208524] [ENSMUST00000209144] [ENSMUST00000208996] [ENSMUST00000207541] [ENSMUST00000209143]

AlphaFold

Q91VM3

Predicted Effect

probably benign
Transcript: ENSMUST00000033489

SMART Domains

Protein: ENSMUSP00000033489
Gene: ENSMUSG00000031149

Domain	Start	End	E-Value	Type
Pfam:PRA1	1	157	4.2e-41	PFAM
low complexity region	164	177	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000033490

SMART Domains

Protein: ENSMUSP00000033490
Gene: ENSMUSG00000031150

Domain	Start	End	E-Value	Type
Pfam:DUF3338	1	142	5.1e-50	PFAM
low complexity region	154	165	N/A	INTRINSIC
low complexity region	208	222	N/A	INTRINSIC
low complexity region	279	294	N/A	INTRINSIC
low complexity region	366	386	N/A	INTRINSIC
low complexity region	411	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043045

SMART Domains

Protein: ENSMUSP00000041456
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	3e-15	BLAST
Blast:WD40	33	83	2e-18	BLAST
WD40	92	127	2.37e2	SMART
WD40	181	221	2.44e-3	SMART
WD40	224	265	4.79e-1	SMART
Blast:WD40	293	336	4e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000115687

SMART Domains

Protein: ENSMUSP00000111351
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	3e-15	BLAST
Blast:WD40	33	83	2e-18	BLAST
WD40	92	127	2.37e2	SMART
WD40	181	221	2.44e-3	SMART
WD40	224	265	4.79e-1	SMART
Blast:WD40	293	336	4e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000115688

SMART Domains

Protein: ENSMUSP00000111352
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	2e-15	BLAST
Blast:WD40	33	83	1e-18	BLAST
WD40	92	127	2.37e2	SMART
WD40	181	221	2.44e-3	SMART
Blast:WD40	224	251	7e-8	BLAST
Blast:WD40	279	322	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000115689

SMART Domains

Protein: ENSMUSP00000111353
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	3e-15	BLAST
Blast:WD40	33	83	2e-18	BLAST
WD40	92	127	2.37e2	SMART
WD40	181	221	2.44e-3	SMART
WD40	224	265	4.79e-1	SMART
Blast:WD40	293	336	4e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000116633

SMART Domains

Protein: ENSMUSP00000112332
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	1e-15	BLAST
Blast:WD40	33	83	1e-17	BLAST
WD40	92	127	2.37e2	SMART
WD40	181	221	2.44e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207109

Predicted Effect

probably benign
Transcript: ENSMUST00000116634

SMART Domains

Protein: ENSMUSP00000112333
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	4e-15	BLAST
WD40	57	92	2.37e2	SMART
WD40	146	186	2.44e-3	SMART
WD40	189	230	4.79e-1	SMART
Blast:WD40	258	301	7e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124707

Predicted Effect

probably benign
Transcript: ENSMUST00000207386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127847

Predicted Effect

probably benign
Transcript: ENSMUST00000207337

Predicted Effect

probably benign
Transcript: ENSMUST00000125991

SMART Domains

Protein: ENSMUSP00000119766
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	2e-17	BLAST
SCOP:d1k32a2	8	54	9e-3	SMART
PDB:3VU4\|B	9	68	1e-7	PDB
Blast:WD40	33	78	2e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000131077

SMART Domains

Protein: ENSMUSP00000117784
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	7e-18	BLAST
PDB:3VU4\|B	9	135	4e-9	PDB
Blast:WD40	33	83	5e-19	BLAST
Blast:WD40	92	127	1e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000144148

SMART Domains

Protein: ENSMUSP00000116483
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	1e-17	BLAST
PDB:3VU4\|B	9	95	5e-9	PDB
Blast:WD40	33	83	2e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000154253

SMART Domains

Protein: ENSMUSP00000138122
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	2e-17	BLAST
PDB:3VU4\|B	9	68	1e-7	PDB
Blast:WD40	33	80	3e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000156000

SMART Domains

Protein: ENSMUSP00000121634
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	7e-18	BLAST
PDB:3VU4\|B	9	135	4e-9	PDB
Blast:WD40	33	83	5e-19	BLAST
Blast:WD40	92	127	1e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000148624

SMART Domains

Protein: ENSMUSP00000122086
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	7e-18	BLAST
PDB:3VU4\|B	9	135	4e-9	PDB
Blast:WD40	33	83	5e-19	BLAST
Blast:WD40	92	127	1e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000208618

Predicted Effect

probably benign
Transcript: ENSMUST00000207461

Predicted Effect

probably benign
Transcript: ENSMUST00000208156

Predicted Effect

probably benign
Transcript: ENSMUST00000207675

Predicted Effect

probably benign
Transcript: ENSMUST00000208443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208517

Predicted Effect

probably benign
Transcript: ENSMUST00000207589

Predicted Effect

probably benign
Transcript: ENSMUST00000208719

Predicted Effect

probably benign
Transcript: ENSMUST00000208528

Predicted Effect

probably benign
Transcript: ENSMUST00000208553

Predicted Effect

probably benign
Transcript: ENSMUST00000208072

Predicted Effect

probably benign
Transcript: ENSMUST00000208524

Predicted Effect

probably benign
Transcript: ENSMUST00000209144

Predicted Effect

probably benign
Transcript: ENSMUST00000208996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209077

Predicted Effect

probably benign
Transcript: ENSMUST00000207541

Predicted Effect

probably benign
Transcript: ENSMUST00000209143

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,950,075 (GRCm39)		probably null	Het
Actr1b	A	G	1: 36,741,588 (GRCm39)	S51P	probably damaging	Het
Cdhr3	T	C	12: 33,092,502 (GRCm39)	Y703C	probably damaging	Het
Col9a1	A	T	1: 24,218,438 (GRCm39)	L54F	unknown	Het
Crim1	A	G	17: 78,651,913 (GRCm39)	K546E	probably damaging	Het
Dap3	A	G	3: 88,835,634 (GRCm39)	V240A	probably benign	Het
Dmtf1l	G	T	X: 125,722,223 (GRCm39)	S294*	probably null	Het
Dmtf1l	T	C	X: 125,722,686 (GRCm39)	I140V	possibly damaging	Het
Hadha	T	C	5: 30,349,304 (GRCm39)		probably benign	Het
Imp3	G	T	9: 56,845,293 (GRCm39)	R168L	probably benign	Het
Or1b1	A	T	2: 36,995,209 (GRCm39)	V151E	probably benign	Het
Otop2	T	A	11: 115,215,455 (GRCm39)	Y125*	probably null	Het
Pacs1	A	G	19: 5,185,033 (GRCm39)	W931R	probably damaging	Het
Rasgrf1	A	T	9: 89,826,813 (GRCm39)	M141L	possibly damaging	Het
Ryr3	C	A	2: 112,512,073 (GRCm39)		probably benign	Het
Strbp	A	T	2: 37,476,520 (GRCm39)		probably null	Het
Sult2a5	T	A	7: 13,396,432 (GRCm39)	M173K	possibly damaging	Het
Tmem63a	G	A	1: 180,790,634 (GRCm39)	V431M	probably benign	Het
Vmn2r114	T	A	17: 23,530,108 (GRCm39)	T100S	probably benign	Het

Other mutations in Wdr45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02643:Wdr45	APN	X	7,593,288 (GRCm39)	nonsense	probably null
R2878:Wdr45	UTSW	X	7,593,611 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16