Mutagenetix > Incidental Mutation

Incidental Mutation 'R4875:Wdr4'

376748

Institutional Source

Beutler Lab

Gene Symbol

Wdr4

Ensembl Gene

ENSMUSG00000024037

Gene Name

WD repeat domain 4

Synonyms

Wh, D530049K22Rik

MMRRC Submission

044392-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R4875 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

31713296-31738946 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31718129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 315 (V315A)

Ref Sequence

ENSEMBL: ENSMUSP00000126061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167419] [ENSMUST00000171171] [ENSMUST00000171291]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000166626

SMART Domains

Protein: ENSMUSP00000125954
Gene: ENSMUSG00000024037

Domain	Start	End	E-Value	Type
SCOP:d1kb0a2	18	93	1e-2	SMART
Blast:WD40	39	91	1e-30	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166992

Predicted Effect

probably benign
Transcript: ENSMUST00000167419

SMART Domains

Protein: ENSMUSP00000127617
Gene: ENSMUSG00000024037

Domain	Start	End	E-Value	Type
SCOP:d1e1aa_	71	143	5e-4	SMART
Blast:WD40	74	134	2e-36	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169224

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169454

Predicted Effect

probably benign
Transcript: ENSMUST00000170176

SMART Domains

Protein: ENSMUSP00000127073
Gene: ENSMUSG00000024037

Domain	Start	End	E-Value	Type
SCOP:d1e1aa_	33	105	9e-4	SMART
Blast:WD40	36	96	8e-37	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000171171
AA Change: V315A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126061
Gene: ENSMUSG00000024037
AA Change: V315A

Domain	Start	End	E-Value	Type
WD40	74	134	1.58e2	SMART
WD40	137	175	2.37e2	SMART
WD40	178	218	4.44e0	SMART
WD40	222	262	3.5e-4	SMART
low complexity region	417	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172284

SMART Domains

Protein: ENSMUSP00000129736
Gene: ENSMUSG00000024037

Domain	Start	End	E-Value	Type
Blast:WD40	36	88	2e-30	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000171291

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

95% (57/60)

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. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a null allele display lethality during organogenesis with increased apoptosis and DNA damage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,521,189 (GRCm39)	E119D	probably benign	Het
Alox5	A	T	6: 116,390,811 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,011,515 (GRCm39)	V1294A	probably damaging	Het
BB019430	A	G	10: 58,539,865 (GRCm39)		noncoding transcript	Het
Bbs9	T	C	9: 22,490,011 (GRCm39)	F261L	probably benign	Het
Catsperb	A	T	12: 101,554,244 (GRCm39)	N646I	possibly damaging	Het
Ccdc112	A	G	18: 46,429,356 (GRCm39)	I114T	probably damaging	Het
Cecr2	T	C	6: 120,727,877 (GRCm39)	L340P	probably damaging	Het
Ces2e	T	A	8: 105,653,817 (GRCm39)	V85E	probably damaging	Het
Cnpy2	C	A	10: 128,161,964 (GRCm39)	T79K	probably damaging	Het
Cntn4	G	A	6: 106,414,874 (GRCm39)	R135H	possibly damaging	Het
Cpne8	T	A	15: 90,532,771 (GRCm39)		probably benign	Het
Ctso	C	T	3: 81,849,688 (GRCm39)		probably benign	Het
Cyp3a16	C	A	5: 145,389,659 (GRCm39)	M235I	probably benign	Het
Dll3	A	G	7: 27,995,860 (GRCm39)	C314R	probably damaging	Het
Dnah7c	A	G	1: 46,728,085 (GRCm39)	N2928D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dqx1	C	A	6: 83,037,993 (GRCm39)	D460E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ehbp1	A	G	11: 22,051,164 (GRCm39)	C438R	probably damaging	Het
Ehd3	T	G	17: 74,112,299 (GRCm39)	V21G	probably damaging	Het
Ero1b	G	A	13: 12,619,325 (GRCm39)	V440I	probably damaging	Het
Fpgt	G	A	3: 154,793,550 (GRCm39)	A159V	probably damaging	Het
Gcn1	T	C	5: 115,714,229 (GRCm39)	L123P	possibly damaging	Het
Gm14496	A	T	2: 181,639,226 (GRCm39)	R439W	probably damaging	Het
Gm4353	G	C	7: 115,683,648 (GRCm39)	P49R	probably damaging	Het
Gsdmc2	C	T	15: 63,700,101 (GRCm39)	A224T	probably benign	Het
Helz	T	A	11: 107,528,560 (GRCm39)		probably benign	Het
Hnf1a	T	C	5: 115,108,732 (GRCm39)	T58A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcns1	T	C	2: 164,010,021 (GRCm39)	Y246C	probably damaging	Het
Kif26b	A	G	1: 178,742,892 (GRCm39)	E549G	probably benign	Het
Krt9	T	C	11: 100,080,863 (GRCm39)	I330V	probably benign	Het
Lair1	A	T	7: 4,032,033 (GRCm39)	S25T	probably benign	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Luzp2	A	G	7: 54,816,996 (GRCm39)	I149V	possibly damaging	Het
Mcoln1	T	A	8: 3,557,422 (GRCm39)	S143T	probably benign	Het
Mcph1	A	G	8: 18,675,574 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,396,986 (GRCm39)	V578M	probably damaging	Het
Mis18bp1	G	A	12: 65,208,209 (GRCm39)	T168M	probably benign	Het
Mospd4	G	T	18: 46,598,804 (GRCm39)		noncoding transcript	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Myom1	T	C	17: 71,379,114 (GRCm39)	V626A	probably damaging	Het
Naa80	C	T	9: 107,460,818 (GRCm39)	R238C	probably damaging	Het
Ncam1	T	C	9: 49,418,921 (GRCm39)		probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Ndufv1	T	C	19: 4,062,653 (GRCm39)		probably null	Het
Nlrp2	A	T	7: 5,301,858 (GRCm39)	F211L	probably benign	Het
Or10a49	A	T	7: 108,467,993 (GRCm39)	F123I	probably damaging	Het
Or10q12	T	A	19: 13,746,126 (GRCm39)	M140K	probably damaging	Het
Or2ad1	T	A	13: 21,326,450 (GRCm39)	Y259F	probably damaging	Het
Osbpl11	G	A	16: 33,054,863 (GRCm39)	V649I	probably benign	Het
Pax8	T	A	2: 24,331,652 (GRCm39)	M144L	probably benign	Het
Pcnt	T	C	10: 76,205,688 (GRCm39)	T2555A	probably benign	Het
Plat	T	A	8: 23,258,466 (GRCm39)	I23K	probably benign	Het
Plpp2	G	A	10: 79,366,763 (GRCm39)	T51M	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Prl7c1	T	C	13: 27,957,742 (GRCm39)	M233V	probably benign	Het
Prox1	A	C	1: 189,894,319 (GRCm39)	F42C	probably damaging	Het
Pwwp2b	A	T	7: 138,835,978 (GRCm39)	Q473L	possibly damaging	Het
Rims4	A	T	2: 163,707,443 (GRCm39)	N127K	probably null	Het
Scn1a	T	C	2: 66,158,820 (GRCm39)	T367A	possibly damaging	Het
Slc23a2	A	G	2: 131,898,800 (GRCm39)	I579T	possibly damaging	Het
Sp9	T	C	2: 73,103,962 (GRCm39)	V172A	possibly damaging	Het
Spta1	T	A	1: 174,003,396 (GRCm39)	L109Q	probably damaging	Het
Strap	ACCTGCCCTCCT	ACCT	6: 137,726,316 (GRCm39)		probably benign	Het
Synj2	A	T	17: 6,038,343 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,206 (GRCm39)	V15A	probably damaging	Het
Tgif2-ps2	A	G	17: 40,426,274 (GRCm39)		noncoding transcript	Het
Tnrc18	A	T	5: 142,750,932 (GRCm39)	M1216K	unknown	Het
Tpst2	T	A	5: 112,457,687 (GRCm39)	Y69*	probably null	Het
Tpx2	C	A	2: 152,735,535 (GRCm39)	A721E	probably benign	Het
Trmt1l	A	G	1: 151,330,755 (GRCm39)	T591A	probably benign	Het
Tuba8	T	A	6: 121,203,042 (GRCm39)		probably benign	Het
Ubiad1	T	C	4: 148,528,556 (GRCm39)	T118A	possibly damaging	Het
Unc13c	T	C	9: 73,424,566 (GRCm39)	T2017A	probably damaging	Het
Vmn1r59	G	T	7: 5,457,108 (GRCm39)	N217K	probably benign	Het
Vmn2r87	T	C	10: 130,308,367 (GRCm39)	I624V	probably damaging	Het
Xpo7	T	C	14: 70,914,256 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,403 (GRCm39)	W190R	probably damaging	Het
Zfp971	A	G	2: 177,674,940 (GRCm39)	T180A	probably benign	Het

Other mutations in Wdr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Wdr4	APN	17	31,720,232 (GRCm39)	missense	possibly damaging	0.94
IGL03158:Wdr4	APN	17	31,718,102 (GRCm39)	missense	probably benign	0.00
R0091:Wdr4	UTSW	17	31,715,890 (GRCm39)	missense	probably benign	0.01
R1524:Wdr4	UTSW	17	31,728,737 (GRCm39)	intron	probably benign
R2009:Wdr4	UTSW	17	31,719,584 (GRCm39)	splice site	probably benign
R3822:Wdr4	UTSW	17	31,731,195 (GRCm39)	missense	probably damaging	0.99
R4334:Wdr4	UTSW	17	31,718,126 (GRCm39)	missense	possibly damaging	0.70
R4786:Wdr4	UTSW	17	31,728,785 (GRCm39)	missense	probably damaging	1.00
R4873:Wdr4	UTSW	17	31,718,129 (GRCm39)	missense	probably benign	0.05
R5117:Wdr4	UTSW	17	31,718,798 (GRCm39)	missense	probably benign	0.00
R5372:Wdr4	UTSW	17	31,729,554 (GRCm39)	missense	probably damaging	1.00
R5757:Wdr4	UTSW	17	31,718,063 (GRCm39)	missense	probably damaging	0.98
R6024:Wdr4	UTSW	17	31,720,272 (GRCm39)	intron	probably benign
R7401:Wdr4	UTSW	17	31,728,806 (GRCm39)	missense	probably damaging	1.00
R7836:Wdr4	UTSW	17	31,718,782 (GRCm39)	critical splice donor site	probably null
R9727:Wdr4	UTSW	17	31,718,045 (GRCm39)	missense	probably benign	0.14
Z1176:Wdr4	UTSW	17	31,728,873 (GRCm39)	missense	probably benign	0.15
Z1187:Wdr4	UTSW	17	31,731,177 (GRCm39)	missense	probably damaging	1.00
Z1192:Wdr4	UTSW	17	31,731,177 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGATGTGAACAAGGCTGTG -3'
(R):5'- ACACTTGGAATGGAGTGGC -3'

Sequencing Primer
(F):5'- TCAGACCACGGAGCTGCTG -3'
(R):5'- AGTGGCCATTTCACTCTTCG -3'

Posted On

2016-03-17