Mutagenetix > Incidental Mutation

Incidental Mutation 'R7126:Wdr31'

552312

Institutional Source

Beutler Lab

Gene Symbol

Wdr31

Ensembl Gene

ENSMUSG00000028391

Gene Name

WD repeat domain 31

Synonyms

5430402I10Rik

MMRRC Submission

045213-MU

Accession Numbers

Essential gene?

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

Stock #

R7126 (G1)

Quality Score

225.009

Status

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: 99.7%
20x: 99.1%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,535,988 (GRCm39)	C85R	unknown	Het
3110082I17Rik	G	T	5: 139,347,005 (GRCm39)	H153Q	unknown	Het
Acadsb	T	C	7: 131,039,177 (GRCm39)	I316T	probably benign	Het
Acsbg2	A	T	17: 57,153,633 (GRCm39)	N523K	probably damaging	Het
Ahnak	C	T	19: 8,979,723 (GRCm39)	P336S	possibly damaging	Het
Ankdd1b	A	G	13: 96,566,370 (GRCm39)	V277A	possibly damaging	Het
Aspm	A	G	1: 139,408,541 (GRCm39)	Y2476C	probably benign	Het
Atg13	G	A	2: 91,510,765 (GRCm39)	R321W	probably damaging	Het
B4galt2	A	G	4: 117,734,735 (GRCm39)	F211S	probably damaging	Het
Baiap3	T	A	17: 25,464,119 (GRCm39)	T913S	possibly damaging	Het
Btbd18	A	T	2: 84,496,546 (GRCm39)	E61D	possibly damaging	Het
Btnl9	G	T	11: 49,060,082 (GRCm39)	S555R	probably damaging	Het
Cbs	T	A	17: 31,838,113 (GRCm39)	M379L	probably benign	Het
Chd9	G	A	8: 91,741,853 (GRCm39)	G1614D	unknown	Het
Cmya5	G	A	13: 93,226,448 (GRCm39)	P2880L	probably benign	Het
Cnnm1	T	C	19: 43,473,292 (GRCm39)	S729P	probably damaging	Het
Cox16	T	A	12: 81,518,940 (GRCm39)	E70D	probably benign	Het
Cp	A	G	3: 20,034,788 (GRCm39)	H699R	probably damaging	Het
Cyp2d26	T	C	15: 82,678,209 (GRCm39)	N56D	probably benign	Het
Dennd4c	A	G	4: 86,725,667 (GRCm39)	Y707C	probably damaging	Het
Dnah5	A	T	15: 28,349,983 (GRCm39)	E2555D	probably benign	Het
Ess2	T	C	16: 17,729,154 (GRCm39)	T6A	unknown	Het
Filip1	A	G	9: 79,805,577 (GRCm39)	L59P	possibly damaging	Het
Fsip2	A	G	2: 82,813,485 (GRCm39)	N3268S	possibly damaging	Het
Gja10	A	T	4: 32,601,014 (GRCm39)	C457S	probably benign	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Gm47959	G	A	1: 82,978,503 (GRCm39)	G57S	unknown	Het
Grep1	C	T	17: 23,939,538 (GRCm39)	V8I	probably benign	Het
Grid2	T	A	6: 64,053,794 (GRCm39)	V331E	probably damaging	Het
Inpp4a	C	A	1: 37,413,353 (GRCm39)	H123Q	probably benign	Het
Ireb2	T	A	9: 54,793,851 (GRCm39)	Y260*	probably null	Het
Itpr2	G	A	6: 146,259,294 (GRCm39)	Q628*	probably null	Het
Kbtbd11	G	A	8: 15,078,759 (GRCm39)	A453T	probably damaging	Het
Kcnj2	A	G	11: 110,963,648 (GRCm39)	T347A	probably damaging	Het
Kif19b	A	T	5: 140,477,073 (GRCm39)	D874V	probably benign	Het
Klhl12	A	G	1: 134,395,521 (GRCm39)	H161R	probably damaging	Het
Krt78	T	C	15: 101,856,871 (GRCm39)	E412G	probably damaging	Het
Lzic	A	G	4: 149,573,132 (GRCm39)	I95V	probably damaging	Het
Mme	C	T	3: 63,276,322 (GRCm39)	P700S	probably damaging	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Mthfd2	A	G	6: 83,290,472 (GRCm39)	V53A	probably benign	Het
Mtus1	A	G	8: 41,468,439 (GRCm39)	L210P	probably damaging	Het
Muc16	T	C	9: 18,552,512 (GRCm39)	T4594A	probably benign	Het
Niban1	T	A	1: 151,590,318 (GRCm39)	C537*	probably null	Het
Olfm5	A	T	7: 103,809,187 (GRCm39)	C208S	probably damaging	Het
Or10q1	T	A	19: 13,726,887 (GRCm39)	I139N	possibly damaging	Het
Or2ad1	A	T	13: 21,326,888 (GRCm39)	L113H	probably damaging	Het
Or7a39	T	C	10: 78,715,411 (GRCm39)	V135A	possibly damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Plin1	T	C	7: 79,376,412 (GRCm39)		probably null	Het
Prl7a1	C	T	13: 27,826,402 (GRCm39)		probably null	Het
Ptpn23	T	C	9: 110,217,812 (GRCm39)	D711G	probably benign	Het
Rgs22	A	T	15: 36,103,954 (GRCm39)	I169N	probably damaging	Het
Scn7a	G	T	2: 66,587,630 (GRCm39)	H24Q	possibly damaging	Het
Scrt2	C	T	2: 151,935,006 (GRCm39)	P53L	probably damaging	Het
Sh3rf1	A	T	8: 61,802,458 (GRCm39)	I264L	probably benign	Het
Smarcd1	A	T	15: 99,607,206 (GRCm39)	D393V	probably damaging	Het
Spag17	T	G	3: 100,008,751 (GRCm39)	N1960K	probably benign	Het
Ssb	A	G	2: 69,696,845 (GRCm39)	T62A	possibly damaging	Het
Taar7b	T	A	10: 23,875,960 (GRCm39)	Y42N	possibly damaging	Het
Terf1	A	T	1: 15,883,363 (GRCm39)	I159L	probably benign	Het
Tff3	T	G	17: 31,346,410 (GRCm39)	N54T	probably benign	Het
Top2a	A	G	11: 98,905,818 (GRCm39)	L285P	probably benign	Het
Trim24	A	G	6: 37,896,392 (GRCm39)	Y283C	probably damaging	Het
Trim58	T	C	11: 58,531,405 (GRCm39)	C38R	probably damaging	Het
Trpa1	T	A	1: 14,960,648 (GRCm39)	T647S	probably benign	Het
Trpm4	A	T	7: 44,960,133 (GRCm39)		probably null	Het
Trpm6	C	T	19: 18,831,397 (GRCm39)	Q1421*	probably null	Het
Ubr2	A	T	17: 47,284,982 (GRCm39)		probably null	Het
Vmn1r46	T	G	6: 89,953,976 (GRCm39)	I275S	possibly damaging	Het
Vmn2r54	A	G	7: 12,366,088 (GRCm39)	F282S	possibly damaging	Het
Vmn2r57	A	G	7: 41,049,218 (GRCm39)	S844P	possibly damaging	Het
Vps13a	A	C	19: 16,688,243 (GRCm39)	C855G	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
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
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'- ATGTAGGTGGCCTGACAAAG -3'
(R):5'- GGTGATTCCCAAGTAAATAGTGC -3'

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

Posted On

2019-05-15