Mutagenetix > Incidental Mutation

Incidental Mutation 'R0045:Wdr31'

32746

Institutional Source

Beutler Lab

Gene Symbol

Wdr31

Ensembl Gene

ENSMUSG00000028391

Gene Name

WD repeat domain 31

Synonyms

5430402I10Rik

MMRRC Submission

038339-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0045 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62366890-62389133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62382270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 4 (L4I)

Ref Sequence

ENSEMBL: ENSMUSP00000123624 (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: L4I

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030087
Gene: ENSMUSG00000028391
AA Change: L4I

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: L4I

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103076
Gene: ENSMUSG00000028391
AA Change: L4I

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: L4I

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112719
Gene: ENSMUSG00000028391
AA Change: L4I

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

unknown
Transcript: ENSMUST00000135811
AA Change: L4I

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149281

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155522
AA Change: L4I

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123624
Gene: ENSMUSG00000028391
AA Change: L4I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153615

Meta Mutation Damage Score

0.1285

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (75/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,220,148 (GRCm39)	N299S	probably damaging	Het
Abi3	A	G	11: 95,723,541 (GRCm39)	*368R	probably null	Het
Agbl1	T	C	7: 76,348,588 (GRCm39)		probably null	Het
Ap3b2	T	C	7: 81,115,941 (GRCm39)	D650G	possibly damaging	Het
Arhgap30	A	G	1: 171,235,998 (GRCm39)	S791G	probably benign	Het
Arvcf	T	A	16: 18,222,208 (GRCm39)	L722Q	probably benign	Het
Ascc3	C	T	10: 50,594,498 (GRCm39)	R1198*	probably null	Het
Atf2	G	T	2: 73,660,200 (GRCm39)	T189N	probably benign	Het
Atf7ip	A	G	6: 136,536,814 (GRCm39)	K16E	probably damaging	Het
Atg9b	G	T	5: 24,592,396 (GRCm39)	Q621K	probably damaging	Het
Atp12a	G	A	14: 56,610,330 (GRCm39)	E234K	probably damaging	Het
C8a	T	C	4: 104,684,012 (GRCm39)	K368E	probably benign	Het
Ccdc168	T	C	1: 44,096,365 (GRCm39)	K1578E	probably benign	Het
Cdh23	T	C	10: 60,366,757 (GRCm39)	Y241C	probably damaging	Het
Cdon	G	A	9: 35,398,103 (GRCm39)	S940N	probably benign	Het
Cds2	G	T	2: 132,147,075 (GRCm39)	G402V	possibly damaging	Het
Cog6	T	C	3: 52,900,171 (GRCm39)		probably null	Het
Commd10	T	C	18: 47,100,903 (GRCm39)	S114P	possibly damaging	Het
Dram2	T	C	3: 106,478,133 (GRCm39)	V155A	possibly damaging	Het
Egr2	T	A	10: 67,376,310 (GRCm39)	V252E	probably benign	Het
Exoc3l	C	T	8: 106,020,317 (GRCm39)	V203M	probably damaging	Het
Fsip1	C	A	2: 118,078,773 (GRCm39)		probably null	Het
Gm10840	C	A	11: 106,051,926 (GRCm39)		probably benign	Het
Gpr37l1	A	G	1: 135,088,883 (GRCm39)	L394P	probably damaging	Het
Gsap	T	C	5: 21,431,830 (GRCm39)	M243T	possibly damaging	Het
Hsd3b5	T	A	3: 98,526,460 (GRCm39)	I329F	probably benign	Het
Htra1	T	A	7: 130,563,262 (GRCm39)	S164R	probably damaging	Het
Il17b	G	A	18: 61,823,315 (GRCm39)	V50M	probably damaging	Het
Itga4	A	T	2: 79,131,375 (GRCm39)	Y581F	probably damaging	Het
Jmjd8	A	G	17: 26,048,255 (GRCm39)	E92G	probably damaging	Het
Kcnq4	T	A	4: 120,555,152 (GRCm39)	D677V	probably damaging	Het
Klhl42	A	G	6: 146,993,666 (GRCm39)	T213A	probably benign	Het
Lcn5	T	C	2: 25,550,710 (GRCm39)	S133P	probably damaging	Het
Liph	T	C	16: 21,786,803 (GRCm39)	Y271C	probably damaging	Het
Lpcat3	T	C	6: 124,678,437 (GRCm39)	I228T	probably benign	Het
Lrrd1	A	G	5: 3,916,418 (GRCm39)	K812E	possibly damaging	Het
Ltbp2	T	C	12: 84,860,062 (GRCm39)	T631A	probably damaging	Het
Ltbp2	G	A	12: 84,856,361 (GRCm39)	T701I	probably damaging	Het
Mavs	G	A	2: 131,080,751 (GRCm39)	R13Q	probably damaging	Het
Mtor	C	G	4: 148,549,406 (GRCm39)	H597D	probably benign	Het
Muc5b	T	A	7: 141,410,555 (GRCm39)	H1309Q	unknown	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Nnat	A	T	2: 157,402,408 (GRCm39)		probably benign	Het
Or14c40	T	C	7: 86,313,548 (GRCm39)	L226S	possibly damaging	Het
Or2ag19	T	A	7: 106,444,596 (GRCm39)	Y259*	probably null	Het
Or5h17	G	A	16: 58,820,854 (GRCm39)	D269N	probably benign	Het
Or7e175	A	T	9: 20,048,487 (GRCm39)	Q25L	probably benign	Het
Pclo	C	T	5: 14,589,485 (GRCm39)	A595V	unknown	Het
Pcsk6	T	A	7: 65,612,676 (GRCm39)	C315S	probably damaging	Het
Pkd2	T	A	5: 104,603,671 (GRCm39)		probably benign	Het
Ppp2r3c	T	A	12: 55,340,606 (GRCm39)	I155F	probably damaging	Het
Rapgef4	A	G	2: 72,029,122 (GRCm39)	H398R	possibly damaging	Het
Ripor2	A	G	13: 24,878,209 (GRCm39)	D328G	probably damaging	Het
Rpgrip1	A	T	14: 52,378,601 (GRCm39)	T509S	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,622 (GRCm39)	I1032T	probably damaging	Het
Slc25a13	A	T	6: 6,109,277 (GRCm39)	S362T	probably benign	Het
Stk35	A	T	2: 129,642,488 (GRCm39)	R10*	probably null	Het
Tal1	A	G	4: 114,925,762 (GRCm39)	D277G	probably damaging	Het
Tecta	G	A	9: 42,286,487 (GRCm39)	T723I	probably damaging	Het
Trp53bp1	A	C	2: 121,034,978 (GRCm39)	V103G	probably benign	Het
Trpv4	A	G	5: 114,774,518 (GRCm39)	S189P	probably benign	Het
Ttll5	T	G	12: 85,926,133 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,584,143 (GRCm39)	T451A	probably benign	Het
Vac14	G	A	8: 111,363,584 (GRCm39)	D340N	probably benign	Het
Vars1	C	A	17: 35,217,042 (GRCm39)	A471S	probably benign	Het
Vars1	A	T	17: 35,229,595 (GRCm39)	H404L	probably damaging	Het
Vmn2r70	T	C	7: 85,215,252 (GRCm39)	N94S	probably damaging	Het
Vpreb1b	T	C	16: 17,798,631 (GRCm39)	L39P	probably damaging	Het
Vps13a	A	T	19: 16,618,174 (GRCm39)	L693*	probably null	Het
Wapl	A	G	14: 34,455,751 (GRCm39)	I176V	probably benign	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
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
R7653:Wdr31	UTSW	4	62,381,666 (GRCm39)	missense	probably benign	0.00
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'- GGCTGGGATTACATCTGAAACAGTACAC -3'
(R):5'- TTGACTTGTCTGCTGAACCTCTATTGAC -3'

Sequencing Primer
(F):5'- TCTGAAACAGTACACCAAATGAAGTG -3'
(R):5'- TGCAGTGCCAGGCTGAAG -3'

Posted On

2013-05-09