Mutagenetix > Incidental Mutation

Incidental Mutation 'R5986:Wdr31'

481639

Institutional Source

Beutler Lab

Gene Symbol

Wdr31

Ensembl Gene

ENSMUSG00000028391

Gene Name

WD repeat domain 31

Synonyms

5430402I10Rik

MMRRC Submission

044166-MU

Accession Numbers

Essential gene?

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

Stock #

R5986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62366890-62389133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62374113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 292 (L292S)

Ref Sequence

ENSEMBL: ENSMUSP00000103076 (fasta)

Gene Model

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

AlphaFold

Q9JHB4

Predicted Effect

probably benign
Transcript: ENSMUST00000030087
AA Change: L293S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000030087
Gene: ENSMUSG00000028391
AA Change: L293S

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: L292S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000103076
Gene: ENSMUSG00000028391
AA Change: L292S

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: L293S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112719
Gene: ENSMUSG00000028391
AA Change: L293S

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

noncoding transcript
Transcript: ENSMUST00000146108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153615

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,566,145 (GRCm39)	F992I	probably damaging	Het
Ampd1	T	C	3: 102,992,713 (GRCm39)	F152L	probably damaging	Het
Ank2	T	C	3: 126,806,335 (GRCm39)	H602R	possibly damaging	Het
Ankib1	T	C	5: 3,797,071 (GRCm39)	D247G	probably damaging	Het
Bccip	T	A	7: 133,322,594 (GRCm39)	H313Q	probably benign	Het
Ccdc198	A	T	14: 49,470,403 (GRCm39)	L172H	probably damaging	Het
Cep250	A	G	2: 155,821,197 (GRCm39)	E929G	probably damaging	Het
Chl1	C	A	6: 103,686,152 (GRCm39)	L954I	probably benign	Het
Cog5	A	T	12: 31,710,716 (GRCm39)	D32V	probably benign	Het
Cyp4f16	C	A	17: 32,763,116 (GRCm39)	A187E	probably benign	Het
Dffb	A	T	4: 154,050,050 (GRCm39)	V271E	probably damaging	Het
Dnah8	A	G	17: 31,070,604 (GRCm39)	Y4430C	possibly damaging	Het
Dpp3	T	C	19: 4,968,385 (GRCm39)	E229G	probably benign	Het
Fat3	T	A	9: 15,909,613 (GRCm39)	N2130Y	probably benign	Het
Kcnk3	T	C	5: 30,745,722 (GRCm39)	V21A	possibly damaging	Het
Kif9	G	A	9: 110,319,094 (GRCm39)	S186N	probably benign	Het
Lhfpl3	C	A	5: 22,951,424 (GRCm39)	N78K	probably benign	Het
Ly6c1	A	G	15: 74,917,457 (GRCm39)	S64P	probably damaging	Het
Mapk10	T	C	5: 103,186,446 (GRCm39)	T59A	probably benign	Het
Mars1	A	T	10: 127,140,171 (GRCm39)	C394*	probably null	Het
Mettl16	T	A	11: 74,683,063 (GRCm39)	D168E	possibly damaging	Het
Mgat2	A	T	12: 69,232,158 (GRCm39)	Q244L	probably benign	Het
Mrps30	A	G	13: 118,521,101 (GRCm39)		probably null	Het
Myrip	C	A	9: 120,290,487 (GRCm39)	A702E	probably damaging	Het
Nepn	T	C	10: 52,280,168 (GRCm39)	L420P	probably damaging	Het
Nrn1	A	T	13: 36,918,238 (GRCm39)	Y9*	probably null	Het
Nup107	T	C	10: 117,595,081 (GRCm39)	Y752C	probably damaging	Het
Nutm2	A	T	13: 50,628,496 (GRCm39)	D520V	probably damaging	Het
Olfm2	C	T	9: 20,586,946 (GRCm39)	C48Y	probably damaging	Het
Or52j3	T	C	7: 102,836,735 (GRCm39)	F309S	possibly damaging	Het
Or8g19	A	G	9: 39,056,278 (GRCm39)	N294S	probably null	Het
Osbpl1a	T	A	18: 13,038,138 (GRCm39)	D271V	probably damaging	Het
Osmr	G	T	15: 6,873,934 (GRCm39)	D154E	probably benign	Het
Pcdh9	A	G	14: 94,124,484 (GRCm39)	V562A	probably damaging	Het
Peak1	A	C	9: 56,166,726 (GRCm39)	S401A	probably benign	Het
Pigk	A	T	3: 152,446,486 (GRCm39)	H195L	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Ppp2r1a	C	T	17: 21,171,608 (GRCm39)	R28C	probably damaging	Het
Pramel30	G	T	4: 144,059,323 (GRCm39)	V345F	probably damaging	Het
Ptbp3	T	C	4: 59,493,311 (GRCm39)	D123G	probably benign	Het
Ptgr2	G	A	12: 84,355,120 (GRCm39)	E285K	possibly damaging	Het
Rassf1	G	T	9: 107,429,021 (GRCm39)	V76L	possibly damaging	Het
Sec22a	A	G	16: 35,134,461 (GRCm39)	V307A	probably damaging	Het
Skint5	C	T	4: 113,852,845 (GRCm39)	V18I	probably benign	Het
Slc1a5	T	C	7: 16,516,151 (GRCm39)	V109A	probably benign	Het
St8sia5	T	A	18: 77,342,478 (GRCm39)	M396K	possibly damaging	Het
Tiam1	T	C	16: 89,586,074 (GRCm39)	E602G	probably benign	Het
Tll1	T	C	8: 64,527,297 (GRCm39)	E408G	probably damaging	Het
Tpsb2	G	A	17: 25,586,108 (GRCm39)	V109M	probably benign	Het
Trib1	T	A	15: 59,526,451 (GRCm39)		probably null	Het
Trio	G	T	15: 27,852,019 (GRCm39)	A765E	possibly damaging	Het
Uggt2	A	T	14: 119,286,838 (GRCm39)	V193E	probably damaging	Het
Vmn1r115	G	A	7: 20,578,447 (GRCm39)	P155L	probably benign	Het
Xrra1	T	C	7: 99,525,462 (GRCm39)	I127T	probably benign	Het
Yju2	G	A	17: 56,269,030 (GRCm39)	C46Y	probably damaging	Het
Zfp442	G	A	2: 150,249,944 (GRCm39)	Q596*	probably null	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
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

Posted On

2017-06-26