Mutagenetix > Incidental Mutations

Incidental Mutation 'R0257:Wdr31'

34777

Institutional Source

Beutler Lab

Gene Symbol

Wdr31

Ensembl Gene

ENSMUSG00000028391

Gene Name

WD repeat domain 31

Synonyms

MMRRC Submission

038488-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R0257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62448653-62470896 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 62460518 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030087] [ENSMUST00000030087] [ENSMUST00000107452] [ENSMUST00000107452] [ENSMUST00000120095] [ENSMUST00000120095] [ENSMUST00000132263] [ENSMUST00000135811] [ENSMUST00000155522]

AlphaFold

Q9JHB4

Predicted Effect

probably null
Transcript: ENSMUST00000030087

SMART Domains

Protein: ENSMUSP00000030087
Gene: ENSMUSG00000028391

Domain	Start	End	E-Value	Type
WD40	51	89	8.88e0	SMART
WD40	92	131	6.38e-7	SMART
WD40	135	174	2.82e-8	SMART
WD40	177	216	5.31e-4	SMART
Blast:WD40	219	263	2e-10	BLAST
WD40	267	310	1.03e-1	SMART
Blast:WD40	313	352	2e-15	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000030087

SMART Domains

Protein: ENSMUSP00000030087
Gene: ENSMUSG00000028391

Domain	Start	End	E-Value	Type
WD40	51	89	8.88e0	SMART
WD40	92	131	6.38e-7	SMART
WD40	135	174	2.82e-8	SMART
WD40	177	216	5.31e-4	SMART
Blast:WD40	219	263	2e-10	BLAST
WD40	267	310	1.03e-1	SMART
Blast:WD40	313	352	2e-15	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000107452

SMART Domains

Protein: ENSMUSP00000103076
Gene: ENSMUSG00000028391

Domain	Start	End	E-Value	Type
WD40	50	88	8.88e0	SMART
WD40	91	130	6.38e-7	SMART
WD40	134	173	2.82e-8	SMART
WD40	176	215	5.31e-4	SMART
Blast:WD40	218	262	2e-10	BLAST
WD40	266	309	1.03e-1	SMART
Blast:WD40	312	351	2e-15	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000107452

SMART Domains

Protein: ENSMUSP00000103076
Gene: ENSMUSG00000028391

Domain	Start	End	E-Value	Type
WD40	50	88	8.88e0	SMART
WD40	91	130	6.38e-7	SMART
WD40	134	173	2.82e-8	SMART
WD40	176	215	5.31e-4	SMART
Blast:WD40	218	262	2e-10	BLAST
WD40	266	309	1.03e-1	SMART
Blast:WD40	312	351	2e-15	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000120095

SMART Domains

Protein: ENSMUSP00000112719
Gene: ENSMUSG00000028391

Domain	Start	End	E-Value	Type
WD40	51	89	8.88e0	SMART
WD40	92	131	6.38e-7	SMART
WD40	135	174	2.82e-8	SMART
WD40	177	216	5.31e-4	SMART
Blast:WD40	219	263	2e-10	BLAST
WD40	267	310	1.03e-1	SMART
Blast:WD40	313	352	2e-15	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000120095

SMART Domains

Protein: ENSMUSP00000112719
Gene: ENSMUSG00000028391

Domain	Start	End	E-Value	Type
WD40	51	89	8.88e0	SMART
WD40	92	131	6.38e-7	SMART
WD40	135	174	2.82e-8	SMART
WD40	177	216	5.31e-4	SMART
Blast:WD40	219	263	2e-10	BLAST
WD40	267	310	1.03e-1	SMART
Blast:WD40	313	352	2e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000132263

SMART Domains

Protein: ENSMUSP00000120684
Gene: ENSMUSG00000028391

Domain	Start	End	E-Value	Type
WD40	16	55	5.31e-4	SMART
Blast:WD40	58	100	3e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000135811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153615

Predicted Effect

probably benign
Transcript: ENSMUST00000155522

SMART Domains

Protein: ENSMUSP00000123624
Gene: ENSMUSG00000028391

Domain	Start	End	E-Value	Type
Blast:WD40	51	83	3e-16	BLAST

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Wdr31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Wdr31	APN	4	62457520	missense	probably damaging	1.00
IGL01315:Wdr31	APN	4	62455837	missense	probably damaging	1.00
IGL02345:Wdr31	APN	4	62458846	missense	possibly damaging	0.89
IGL03192:Wdr31	APN	4	62453912	missense	possibly damaging	0.73
R0045:Wdr31	UTSW	4	62464033	missense	possibly damaging	0.81
R0486:Wdr31	UTSW	4	62453893	missense	probably damaging	1.00
R1983:Wdr31	UTSW	4	62460603	missense	probably damaging	1.00
R2081:Wdr31	UTSW	4	62455943	missense	probably benign	0.00
R3620:Wdr31	UTSW	4	62457464	missense	possibly damaging	0.95
R4256:Wdr31	UTSW	4	62457438	critical splice donor site	probably null
R4303:Wdr31	UTSW	4	62460389	missense	probably damaging	1.00
R4562:Wdr31	UTSW	4	62453922	missense	probably damaging	1.00
R5747:Wdr31	UTSW	4	62463400	missense	probably damaging	0.98
R5986:Wdr31	UTSW	4	62455876	missense	probably benign	0.02
R6170:Wdr31	UTSW	4	62463424	missense	probably damaging	1.00
R6887:Wdr31	UTSW	4	62457565	missense	probably benign	0.03
R7126:Wdr31	UTSW	4	62463429	missense	probably benign	0.00
R7469:Wdr31	UTSW	4	62457531	missense	probably damaging	0.99
R7653:Wdr31	UTSW	4	62463429	missense	probably benign	0.00
R7727:Wdr31	UTSW	4	62460636	missense	probably damaging	0.99
R8255:Wdr31	UTSW	4	62463397	missense	probably benign	0.00
R8704:Wdr31	UTSW	4	62462205	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTACCAGGTTCCTGGAGACAGAC -3'
(R):5'- GAGCCATGTTCCACTCTGAAGTCC -3'

Sequencing Primer
(F):5'- GAGACAGACGCTCTCTCCAC -3'
(R):5'- AGCTTGTCCACTTGAGCTG -3'

Posted On

2013-05-09