Mutagenetix > Incidental Mutation

Incidental Mutation 'R2878:Wdr45'

260209

Institutional Source

Beutler Lab

Gene Symbol

Wdr45

Ensembl Gene

ENSMUSG00000039382

Gene Name

WD repeat domain 45

Synonyms

JM5, Wdrx1, DXImx38e, Sfc19, C79260

MMRRC Submission

040466-MU

Accession Numbers

Essential gene?

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

Stock #

R2878 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

7588193-7594440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7593611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 271 (P271S)

Ref Sequence

ENSEMBL: ENSMUSP00000111352 (fasta)

Gene Model

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

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 benign
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 damaging
Transcript: ENSMUST00000043045
AA Change: P285S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041456
Gene: ENSMUSG00000039382
AA Change: P285S

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 damaging
Transcript: ENSMUST00000115687
AA Change: P285S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111351
Gene: ENSMUSG00000039382
AA Change: P285S

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 damaging
Transcript: ENSMUST00000115688
AA Change: P271S

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

SMART Domains

Protein: ENSMUSP00000111352
Gene: ENSMUSG00000039382
AA Change: P271S

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 damaging
Transcript: ENSMUST00000115689
AA Change: P285S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111353
Gene: ENSMUSG00000039382
AA Change: P285S

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

noncoding transcript
Transcript: ENSMUST00000124707

Predicted Effect

probably damaging
Transcript: ENSMUST00000116634
AA Change: P250S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112333
Gene: ENSMUSG00000039382
AA Change: P250S

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

possibly damaging
Transcript: ENSMUST00000207386
AA Change: P183S

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

unknown
Transcript: ENSMUST00000207109
AA Change: P211S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207183

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: 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: 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: 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: 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: ENSMUST00000207589
AA Change: P285S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000207675
AA Change: P218S

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000207461
AA Change: P78S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208443
AA Change: P214S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208618
AA Change: P246S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209077

Predicted Effect

probably benign
Transcript: ENSMUST00000209143

Predicted Effect

probably benign
Transcript: ENSMUST00000208072

Predicted Effect

probably benign
Transcript: ENSMUST00000208524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208918

Predicted Effect

probably benign
Transcript: ENSMUST00000207541

Predicted Effect

probably benign
Transcript: ENSMUST00000208719

Predicted Effect

probably benign
Transcript: ENSMUST00000208528

Predicted Effect

probably benign
Transcript: ENSMUST00000208553

Predicted Effect

probably benign
Transcript: ENSMUST00000208996

Predicted Effect

probably benign
Transcript: ENSMUST00000209144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208517

Predicted Effect

probably benign
Transcript: ENSMUST00000208156

Meta Mutation Damage Score

0.1563

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

92% (58/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adgrg7	A	G	16: 56,570,817 (GRCm39)	F404L	probably benign	Het
Akr1c20	G	A	13: 4,557,774 (GRCm39)	T251M	probably damaging	Het
Amph	G	A	13: 19,288,437 (GRCm39)	V309I	possibly damaging	Het
Ano2	T	G	6: 125,840,481 (GRCm39)	F384C	probably damaging	Het
Aplf	G	A	6: 87,645,409 (GRCm39)	R32*	probably null	Het
Arhgef18	A	G	8: 3,482,759 (GRCm39)	M155V	probably benign	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Camkmt	T	C	17: 85,738,979 (GRCm39)		probably benign	Het
Capn2	T	A	1: 182,344,798 (GRCm39)	E41V	probably benign	Het
Cd53	T	C	3: 106,674,732 (GRCm39)	T112A	probably benign	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dact2	A	T	17: 14,416,176 (GRCm39)	S675T	probably damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eml4	T	A	17: 83,717,603 (GRCm39)	H58Q	probably benign	Het
F13b	T	C	1: 139,429,485 (GRCm39)	M1T	probably null	Het
Fam83b	A	G	9: 76,398,092 (GRCm39)	F1004L	probably damaging	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Fscb	A	T	12: 64,519,348 (GRCm39)	V706E	unknown	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gm17546	A	T	15: 95,727,805 (GRCm39)		probably benign	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Kcns1	A	G	2: 164,006,682 (GRCm39)	I427T	probably damaging	Het
Map3k19	T	A	1: 127,751,530 (GRCm39)	E607V	possibly damaging	Het
Map3k4	T	C	17: 12,482,954 (GRCm39)	S588G	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nfatc3	C	A	8: 106,818,776 (GRCm39)	T498K	probably damaging	Het
Nfkb2	G	A	19: 46,295,880 (GRCm39)	R158H	possibly damaging	Het
Obscn	T	C	11: 58,947,014 (GRCm39)	E4337G	possibly damaging	Het
Or5b106	A	G	19: 13,123,771 (GRCm39)	L84P	probably benign	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rbm6	T	C	9: 107,729,649 (GRCm39)	E333G	probably damaging	Het
Rem2	A	G	14: 54,713,819 (GRCm39)	T31A	possibly damaging	Het
Ric1	A	G	19: 29,579,730 (GRCm39)	D1224G	possibly damaging	Het
Rp1	A	G	1: 4,418,362 (GRCm39)	S917P	probably damaging	Het
Scn2a	G	A	2: 65,518,715 (GRCm39)	G363D	probably damaging	Het
Shcbp1l	A	T	1: 153,313,264 (GRCm39)		probably benign	Het
Skor2	G	T	18: 76,948,419 (GRCm39)	E714*	probably null	Het
Slc15a1	T	A	14: 121,703,345 (GRCm39)	K545N	probably benign	Het
Slc1a2	T	A	2: 102,591,512 (GRCm39)	M414K	probably damaging	Het
Slc7a8	A	G	14: 54,997,143 (GRCm39)	S70P	probably damaging	Het
Spopfm1	G	T	3: 94,173,787 (GRCm39)	C265F	possibly damaging	Het
Taf1a	A	G	1: 183,179,173 (GRCm39)	E117G	probably damaging	Het
Trem2	A	G	17: 48,658,141 (GRCm39)	D135G	probably benign	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Unc80	TGTATTCCAGGCG	TG	1: 66,710,735 (GRCm39)		probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Zfp410	A	C	12: 84,378,411 (GRCm39)	N245T	probably damaging	Het

Other mutations in Wdr45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02453:Wdr45	APN	X	7,593,520 (GRCm39)	splice site	probably null
IGL02643:Wdr45	APN	X	7,593,288 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGCTTCCAGTGACAAGGG -3'
(R):5'- AATGGCATCATGTTCCAGTTTC -3'

Sequencing Primer
(F):5'- TTCCAGTGACAAGGGCACTGTC -3'
(R):5'- CTGATAGCCCTTAAATTCTTTTAGGG -3'

Posted On

2015-01-23