Mutagenetix > Incidental Mutation

Incidental Mutation 'R7653:Wdr31'

580463

Institutional Source

Beutler Lab

Gene Symbol

Wdr31

Ensembl Gene

ENSMUSG00000028391

Gene Name

WD repeat domain 31

Synonyms

5430402I10Rik

MMRRC Submission

045730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62366890-62389133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62381666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 55 (Q55L)

Ref Sequence

ENSEMBL: ENSMUSP00000030087 (fasta)

Gene Model

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

AlphaFold

Q9JHB4

Predicted Effect

probably benign
Transcript: ENSMUST00000030087
AA Change: Q55L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000030087
Gene: ENSMUSG00000028391
AA Change: Q55L

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: ENSMUST00000107452
AA Change: Q54L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103076
Gene: ENSMUSG00000028391
AA Change: Q54L

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 benign
Transcript: ENSMUST00000120095
AA Change: Q55L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112719
Gene: ENSMUSG00000028391
AA Change: Q55L

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

probably benign
Transcript: ENSMUST00000155522
AA Change: Q55L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000123624
Gene: ENSMUSG00000028391
AA Change: Q55L

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

Meta Mutation Damage Score

0.0738

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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. 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	A	T	6: 92,805,050 (GRCm39)	Q70L	unknown	Het
Adamts12	T	A	15: 11,257,115 (GRCm39)	N489K	probably benign	Het
Alms1	A	G	6: 85,597,577 (GRCm39)	D801G	possibly damaging	Het
Apex1	T	G	14: 51,163,995 (GRCm39)	N173K	probably damaging	Het
Arhgap32	A	T	9: 32,168,441 (GRCm39)	N808I	probably benign	Het
Arhgef28	T	C	13: 98,105,821 (GRCm39)	Y706C	probably benign	Het
Atg2b	A	T	12: 105,602,731 (GRCm39)	F1604Y	possibly damaging	Het
Atm	A	T	9: 53,401,602 (GRCm39)	Y1422*	probably null	Het
Bace2	T	A	16: 97,237,852 (GRCm39)	V38E		Het
Birc6	C	A	17: 74,954,729 (GRCm39)	L3442I	possibly damaging	Het
C6	T	A	15: 4,844,244 (GRCm39)	S889T		Het
Calcrl	A	T	2: 84,175,529 (GRCm39)	L275*	probably null	Het
Casp6	T	C	3: 129,705,872 (GRCm39)	Y180H	probably benign	Het
Cd5	T	C	19: 10,703,910 (GRCm39)	M51V	probably benign	Het
Cdhr1	G	T	14: 36,804,158 (GRCm39)	P500Q	probably benign	Het
Celsr3	G	A	9: 108,712,269 (GRCm39)	W1732*	probably null	Het
Ces2g	T	C	8: 105,689,285 (GRCm39)	V87A	probably damaging	Het
Chil6	T	C	3: 106,301,641 (GRCm39)	N153S	possibly damaging	Het
Chrna5	A	T	9: 54,909,718 (GRCm39)	D113V	probably benign	Het
Cimip2b	T	G	4: 43,427,273 (GRCm39)		probably null	Het
Cox20	A	G	1: 178,150,164 (GRCm39)	T113A	probably benign	Het
Cryl1	T	C	14: 57,541,148 (GRCm39)	I179V	probably benign	Het
Dennd3	A	G	15: 73,434,275 (GRCm39)	T982A	probably damaging	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Dync2h1	A	G	9: 7,117,570 (GRCm39)	S2240P	probably benign	Het
Eif1ad14	T	A	12: 87,886,248 (GRCm39)	D127V	unknown	Het
Fbxl5	C	T	5: 43,916,116 (GRCm39)	S432N	probably benign	Het
Fez1	T	A	9: 36,772,146 (GRCm39)	S150R	probably benign	Het
Gabrb2	T	G	11: 42,378,039 (GRCm39)	M85R	probably damaging	Het
Lhx4	A	G	1: 155,580,617 (GRCm39)	V203A	probably damaging	Het
Med23	G	A	10: 24,780,282 (GRCm39)	D977N	probably damaging	Het
Mplkip	T	C	13: 17,870,367 (GRCm39)	F100L	probably damaging	Het
Ncoa7	C	T	10: 30,570,239 (GRCm39)	G240E	probably damaging	Het
Nedd4	A	G	9: 72,650,910 (GRCm39)	E827G	probably damaging	Het
Nfatc2	A	G	2: 168,413,065 (GRCm39)	F207L	probably benign	Het
Nr2f1	A	T	13: 78,343,716 (GRCm39)	S183T	probably benign	Het
Ocel1	A	G	8: 71,824,560 (GRCm39)	E81G	probably benign	Het
Or10aa3	T	C	1: 173,878,488 (GRCm39)	V183A	probably benign	Het
Or10g3b	C	A	14: 52,586,889 (GRCm39)	G205*	probably null	Het
Or4n4b	C	T	14: 50,536,604 (GRCm39)	G54E	possibly damaging	Het
Pcdh8	G	A	14: 80,005,086 (GRCm39)	P980S	probably benign	Het
Pex26	A	T	6: 121,170,510 (GRCm39)	Q285L	possibly damaging	Het
Pgap6	T	A	17: 26,339,423 (GRCm39)	M579K	probably damaging	Het
Plce1	A	T	19: 38,737,763 (GRCm39)	N1603I	probably benign	Het
Poli	A	T	18: 70,642,698 (GRCm39)	C501S	probably benign	Het
Ppp4r4	C	T	12: 103,550,404 (GRCm39)	T276I	probably damaging	Het
Rbpj	T	A	5: 53,747,693 (GRCm39)	M1K	probably null	Het
Recql4	T	A	15: 76,587,982 (GRCm39)	M1204L	probably benign	Het
Ribc2	T	C	15: 85,025,876 (GRCm39)	I284T	probably benign	Het
Rreb1	C	A	13: 38,114,362 (GRCm39)	Q574K	probably benign	Het
Scn9a	A	T	2: 66,357,424 (GRCm39)	L959Q	probably damaging	Het
Shank1	C	A	7: 43,969,093 (GRCm39)	H329Q	unknown	Het
Soat2	A	T	15: 102,071,013 (GRCm39)	D469V	probably damaging	Het
Spag7	T	A	11: 70,555,691 (GRCm39)	H82L	probably damaging	Het
Sptb	T	C	12: 76,675,271 (GRCm39)	I248V	probably benign	Het
Tacr3	A	G	3: 134,566,843 (GRCm39)	I239V	probably benign	Het
Tbc1d1	T	C	5: 64,414,133 (GRCm39)	F165L	probably benign	Het
Tchhl1	A	G	3: 93,378,451 (GRCm39)	E385G	probably benign	Het
Tecta	C	T	9: 42,248,532 (GRCm39)	D1957N	probably damaging	Het
Tenm2	T	C	11: 35,938,174 (GRCm39)	I1501V	probably benign	Het
Tet2	G	T	3: 133,192,146 (GRCm39)	Q763K	probably benign	Het
Timd6	A	C	11: 46,475,200 (GRCm39)	S132R	probably benign	Het
Tox3	G	A	8: 90,975,617 (GRCm39)	T338I	probably damaging	Het
Usp30	G	A	5: 114,259,730 (GRCm39)	D479N	probably damaging	Het
Vmn1r27	T	C	6: 58,192,785 (GRCm39)	D73G	possibly damaging	Het
Vmn1r27	A	T	6: 58,192,879 (GRCm39)	S42T	probably benign	Het
Vmn2r120	A	T	17: 57,816,258 (GRCm39)	V699D	possibly damaging	Het
Vwa2	A	T	19: 56,897,767 (GRCm39)	T691S	probably benign	Het
Xdh	A	G	17: 74,204,040 (GRCm39)	F1107L	probably benign	Het
Zfp184	A	G	13: 22,143,887 (GRCm39)	H531R	probably damaging	Het
Zfp366	T	C	13: 99,365,709 (GRCm39)	L290P	probably damaging	Het

Other mutations in Wdr31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Wdr31	APN	4	62,375,757 (GRCm39)	missense	probably damaging	1.00
IGL01315:Wdr31	APN	4	62,374,074 (GRCm39)	missense	probably damaging	1.00
IGL02345:Wdr31	APN	4	62,377,083 (GRCm39)	missense	possibly damaging	0.89
IGL03192:Wdr31	APN	4	62,372,149 (GRCm39)	missense	possibly damaging	0.73
R0045:Wdr31	UTSW	4	62,382,270 (GRCm39)	missense	possibly damaging	0.81
R0257:Wdr31	UTSW	4	62,378,755 (GRCm39)	critical splice donor site	probably null
R0486:Wdr31	UTSW	4	62,372,130 (GRCm39)	missense	probably damaging	1.00
R1983:Wdr31	UTSW	4	62,378,840 (GRCm39)	missense	probably damaging	1.00
R2081:Wdr31	UTSW	4	62,374,180 (GRCm39)	missense	probably benign	0.00
R3620:Wdr31	UTSW	4	62,375,701 (GRCm39)	missense	possibly damaging	0.95
R4256:Wdr31	UTSW	4	62,375,675 (GRCm39)	critical splice donor site	probably null
R4303:Wdr31	UTSW	4	62,378,626 (GRCm39)	missense	probably damaging	1.00
R4562:Wdr31	UTSW	4	62,372,159 (GRCm39)	missense	probably damaging	1.00
R5747:Wdr31	UTSW	4	62,381,637 (GRCm39)	missense	probably damaging	0.98
R5986:Wdr31	UTSW	4	62,374,113 (GRCm39)	missense	probably benign	0.02
R6170:Wdr31	UTSW	4	62,381,661 (GRCm39)	missense	probably damaging	1.00
R6887:Wdr31	UTSW	4	62,375,802 (GRCm39)	missense	probably benign	0.03
R7126:Wdr31	UTSW	4	62,381,666 (GRCm39)	missense	probably benign	0.00
R7469:Wdr31	UTSW	4	62,375,768 (GRCm39)	missense	probably damaging	0.99
R7727:Wdr31	UTSW	4	62,378,873 (GRCm39)	missense	probably damaging	0.99
R8255:Wdr31	UTSW	4	62,381,634 (GRCm39)	missense	probably benign	0.00
R8704:Wdr31	UTSW	4	62,380,442 (GRCm39)	missense	probably benign
R9798:Wdr31	UTSW	4	62,381,651 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCATGTAGGTGGCCTGACAAAG -3'
(R):5'- GGTGATTCCCAAGTAAATAGTGCC -3'

Sequencing Primer
(F):5'- GAGGTCCTCATGGAATCCTCATG -3'
(R):5'- AATAGTGCCATTTATTTCTGGGC -3'

Posted On

2019-10-07