Mutagenetix > Incidental Mutation

Incidental Mutation 'R0091:Wdr4'

20245

Institutional Source

Beutler Lab

Gene Symbol

Wdr4

Ensembl Gene

ENSMUSG00000024037

Gene Name

WD repeat domain 4

Synonyms

Wh, D530049K22Rik

MMRRC Submission

038378-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R0091 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

31713296-31738946 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31715890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 398 (T398I)

Ref Sequence

ENSEMBL: ENSMUSP00000126061 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166992

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: T398I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126061
Gene: ENSMUSG00000024037
AA Change: T398I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.4%
20x: 84.5%

Validation Efficiency

98% (86/88)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,932,179 (GRCm39)	S278P	possibly damaging	Het
Adam11	A	G	11: 102,663,665 (GRCm39)	Y281C	probably damaging	Het
Adam6a	G	T	12: 113,507,849 (GRCm39)	R74L	possibly damaging	Het
Adcy5	T	C	16: 35,091,368 (GRCm39)		probably null	Het
Adrb2	A	G	18: 62,312,090 (GRCm39)	L245P	probably benign	Het
Aebp2	T	C	6: 140,589,800 (GRCm39)		probably null	Het
Arhgap23	A	G	11: 97,343,070 (GRCm39)	T240A	probably benign	Het
Atp10a	T	C	7: 58,423,794 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,274,213 (GRCm39)	Y416F	probably damaging	Het
Atp5mc2	A	C	15: 102,571,492 (GRCm39)	L133R	probably damaging	Het
Bicral	A	T	17: 47,136,233 (GRCm39)	Y326N	probably damaging	Het
Chst4	T	C	8: 110,757,297 (GRCm39)	S189G	probably damaging	Het
Cnot1	A	T	8: 96,489,772 (GRCm39)	I477N	probably damaging	Het
Col7a1	G	T	9: 108,796,574 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,415,301 (GRCm39)		probably benign	Het
Dcn	A	G	10: 97,342,551 (GRCm39)	N169S	probably benign	Het
Dnajc6	T	C	4: 101,473,974 (GRCm39)		probably benign	Het
Egln3	A	G	12: 54,228,432 (GRCm39)	F225L	probably benign	Het
Erap1	G	A	13: 74,816,171 (GRCm39)	R100Q	possibly damaging	Het
Erc2	A	T	14: 27,498,781 (GRCm39)		probably null	Het
Fto	G	A	8: 92,168,435 (GRCm39)		probably null	Het
Gdap1l1	C	T	2: 163,288,011 (GRCm39)	P80S	probably damaging	Het
Gm1123	T	C	9: 98,905,405 (GRCm39)	E35G	possibly damaging	Het
Hhipl1	A	G	12: 108,288,156 (GRCm39)		probably benign	Het
Ift80	A	T	3: 68,822,008 (GRCm39)	L679Q	probably damaging	Het
Il18	A	G	9: 50,488,013 (GRCm39)		probably benign	Het
Inhbb	T	C	1: 119,345,125 (GRCm39)	Y388C	probably damaging	Het
Kmt2d	G	T	15: 98,742,360 (GRCm39)		probably benign	Het
Krt20	A	G	11: 99,328,640 (GRCm39)	V95A	probably damaging	Het
Lck	A	T	4: 129,449,474 (GRCm39)	S274R	possibly damaging	Het
Lrp1	T	A	10: 127,376,848 (GRCm39)	N4243I	probably damaging	Het
Lrrfip2	G	A	9: 111,043,311 (GRCm39)	V506I	probably damaging	Het
Ltbp2	A	G	12: 84,840,507 (GRCm39)	C1000R	probably damaging	Het
Matn3	G	A	12: 9,002,105 (GRCm39)	D106N	probably damaging	Het
Mical2	A	G	7: 111,980,503 (GRCm39)	E49G	probably benign	Het
Mmadhc	A	G	2: 50,182,869 (GRCm39)	S36P	probably damaging	Het
Morn1	T	C	4: 155,229,629 (GRCm39)	Y433H	probably damaging	Het
Mpo	A	G	11: 87,692,436 (GRCm39)	M525V	probably benign	Het
Myo5a	C	T	9: 75,068,774 (GRCm39)	R659C	probably damaging	Het
Obox6	T	C	7: 15,568,364 (GRCm39)	S171G	probably benign	Het
Or1j18	A	G	2: 36,624,917 (GRCm39)	N195D	probably damaging	Het
Or4k36	T	A	2: 111,146,518 (GRCm39)	D231E	probably benign	Het
Or5g29	A	T	2: 85,421,696 (GRCm39)	N271Y	probably benign	Het
P2ry14	A	G	3: 59,023,314 (GRCm39)	Y49H	probably benign	Het
Papss2	C	T	19: 32,611,302 (GRCm39)	T17I	possibly damaging	Het
Pcid2	T	C	8: 13,135,392 (GRCm39)	T206A	probably benign	Het
Pex6	A	G	17: 47,022,844 (GRCm39)	E140G	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prdx2	T	G	8: 85,698,330 (GRCm39)		probably benign	Het
Ptbp2	A	T	3: 119,514,310 (GRCm39)	L471Q	probably damaging	Het
Rbm33	T	A	5: 28,557,604 (GRCm39)	D232E	possibly damaging	Het
Rnf214	T	A	9: 45,809,791 (GRCm39)		probably null	Het
Rora	G	A	9: 69,281,330 (GRCm39)	R314H	probably damaging	Het
Rufy4	T	C	1: 74,168,095 (GRCm39)		probably benign	Het
Sag	T	C	1: 87,742,402 (GRCm39)	V58A	probably damaging	Het
Serpina3i	C	T	12: 104,231,423 (GRCm39)	T20M	probably damaging	Het
Slc4a5	A	G	6: 83,254,537 (GRCm39)	N578S	probably benign	Het
Soat2	A	G	15: 102,066,574 (GRCm39)	Y285C	probably damaging	Het
Syk	A	G	13: 52,794,769 (GRCm39)	Y478C	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tas2r126	A	T	6: 42,412,036 (GRCm39)	M190L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ttc19	A	G	11: 62,199,910 (GRCm39)	D218G	probably damaging	Het
Tut1	T	C	19: 8,942,800 (GRCm39)	V629A	probably damaging	Het
Txndc11	T	C	16: 10,905,968 (GRCm39)	N521D	probably benign	Het
Ushbp1	T	C	8: 71,841,614 (GRCm39)	E405G	possibly damaging	Het
Usp46	C	T	5: 74,163,918 (GRCm39)	R246Q	probably benign	Het
Utrn	T	C	10: 12,610,948 (GRCm39)	D469G	probably damaging	Het
Vmn2r104	T	A	17: 20,262,075 (GRCm39)	I352F	possibly damaging	Het
Ythdc1	T	A	5: 86,968,560 (GRCm39)		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
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
R4875: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'- GCCATGTCCAAGGTCAGCAACTAAG -3'
(R):5'- TCCAGCCCAAGTGTGGATCTCAAG -3'

Sequencing Primer
(F):5'- TCAGCAACTAAGGGCTGACTG -3'
(R):5'- tgagaggcagaggcagg -3'

Posted On

2013-04-11