Mutagenetix > Incidental Mutation

Incidental Mutation 'R7836:Wdr4'

606010

Institutional Source

Beutler Lab

Gene Symbol

Wdr4

Ensembl Gene

ENSMUSG00000024037

Gene Name

WD repeat domain 4

Synonyms

Wh, D530049K22Rik

MMRRC Submission

045890-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R7836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31713296-31738946 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to G at 31718782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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

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 null
Transcript: ENSMUST00000171171

SMART Domains

Protein: ENSMUSP00000126061
Gene: ENSMUSG00000024037

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: ENSMUST00000171291

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	G	5: 8,984,203 (GRCm39)	S644R	probably benign	Het
Adra2a	A	G	19: 54,034,659 (GRCm39)	E5G	probably benign	Het
Ankrd1	A	T	19: 36,092,922 (GRCm39)	V201D	possibly damaging	Het
Ano9	A	T	7: 140,683,114 (GRCm39)	V598E	probably damaging	Het
Apob	T	A	12: 8,051,885 (GRCm39)	M1150K	possibly damaging	Het
BC005624	A	T	2: 30,864,032 (GRCm39)	I187N	probably damaging	Het
Bltp3b	C	T	10: 89,651,968 (GRCm39)	T1381I	probably benign	Het
Ccl9	T	C	11: 83,467,257 (GRCm39)	E31G	probably benign	Het
Cnnm4	T	A	1: 36,511,019 (GRCm39)	D82E	probably benign	Het
Coq10b	T	C	1: 55,092,013 (GRCm39)		probably benign	Het
Cplane1	T	G	15: 8,233,241 (GRCm39)	F1189V	probably damaging	Het
Cyb561	T	C	11: 105,830,935 (GRCm39)	N50S	probably benign	Het
Dctn4	G	T	18: 60,679,348 (GRCm39)	A223S	probably benign	Het
Dysf	A	G	6: 84,114,380 (GRCm39)	Y1223C	probably damaging	Het
Eed	C	T	7: 89,630,022 (GRCm39)		probably benign	Het
Eef1g	T	A	19: 8,954,738 (GRCm39)	V305E	probably benign	Het
Eif4ebp2	C	A	10: 61,270,772 (GRCm39)	A86S	probably benign	Het
Ermp1	T	C	19: 29,609,788 (GRCm39)		probably null	Het
Hid1	T	C	11: 115,249,821 (GRCm39)	Y198C	probably damaging	Het
Hoxd1	C	A	2: 74,593,816 (GRCm39)	A124E	probably benign	Het
Hyal5	G	A	6: 24,891,347 (GRCm39)	C387Y	probably damaging	Het
Il11	A	G	7: 4,778,999 (GRCm39)	S103P	probably damaging	Het
Lgalsl2	A	T	7: 5,362,507 (GRCm39)	K46M	probably damaging	Het
Lmtk3	A	C	7: 45,436,327 (GRCm39)	I128L	possibly damaging	Het
Lrrc4b	G	T	7: 44,094,316 (GRCm39)		probably benign	Het
Magel2	T	A	7: 62,028,116 (GRCm39)	I340N	possibly damaging	Het
Mfsd14a	A	T	3: 116,442,200 (GRCm39)	F71I	possibly damaging	Het
Mgarp	A	G	3: 51,296,487 (GRCm39)	S172P	probably benign	Het
Mug1	T	C	6: 121,847,611 (GRCm39)		probably null	Het
Naa15	G	T	3: 51,370,688 (GRCm39)	E651*	probably null	Het
Ndfip2	T	C	14: 105,529,675 (GRCm39)	V168A	probably benign	Het
Neb	C	A	2: 52,113,373 (GRCm39)		probably null	Het
Nfil3	A	G	13: 53,121,968 (GRCm39)	V312A	possibly damaging	Het
Nrap	T	C	19: 56,338,729 (GRCm39)	I953V	probably benign	Het
Ntrk1	T	A	3: 87,687,041 (GRCm39)	K706*	probably null	Het
Nuf2	A	T	1: 169,352,898 (GRCm39)	F36I	probably benign	Het
Or51h7	T	A	7: 102,591,125 (GRCm39)	T220S	possibly damaging	Het
Or5aq7	T	C	2: 86,937,861 (GRCm39)	Y290C	probably damaging	Het
Pcdh8	T	G	14: 80,006,101 (GRCm39)	T821P	possibly damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ptch2	C	A	4: 116,962,224 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,081,719 (GRCm39)	I50V	probably benign	Het
Pth2r	G	T	1: 65,390,722 (GRCm39)	W292L	probably damaging	Het
Ptprd	G	A	4: 75,900,881 (GRCm39)	T825M	probably damaging	Het
Ptprk	T	C	10: 28,449,385 (GRCm39)	Y987H	probably damaging	Het
Qser1	T	C	2: 104,606,579 (GRCm39)	E1470G	probably damaging	Het
Rab11fip3	T	C	17: 26,287,232 (GRCm39)	E307G	possibly damaging	Het
Rims2	A	G	15: 39,544,475 (GRCm39)	Y1484C	probably damaging	Het
Rock1	A	T	18: 10,097,651 (GRCm39)		probably null	Het
Slc15a1	T	A	14: 121,718,145 (GRCm39)	K245*	probably null	Het
Snx11	T	A	11: 96,660,032 (GRCm39)	E219V	possibly damaging	Het
Sox21	C	A	14: 118,472,729 (GRCm39)	E107*	probably null	Het
Spink5	T	A	18: 44,132,888 (GRCm39)	H501Q	probably benign	Het
Stard5	C	T	7: 83,285,984 (GRCm39)	T103M	probably damaging	Het
Stfa2l1	A	T	16: 35,977,203 (GRCm39)		probably benign	Het
Sult1c2	A	C	17: 54,271,076 (GRCm39)	V185G	probably damaging	Het
Svs5	A	G	2: 164,079,500 (GRCm39)	S136P	possibly damaging	Het
Sytl3	T	A	17: 6,982,774 (GRCm39)		probably null	Het
Tc2n	C	T	12: 101,619,112 (GRCm39)	V349I	possibly damaging	Het
Tln1	A	G	4: 43,554,309 (GRCm39)	V271A	probably benign	Het
Tmem260	T	A	14: 48,746,519 (GRCm39)	S446R	probably benign	Het
Trim30a	T	C	7: 104,084,802 (GRCm39)	D136G	probably benign	Het
Ulk4	A	T	9: 120,873,885 (GRCm39)	I1182N	possibly damaging	Het
Unc50	T	G	1: 37,476,377 (GRCm39)	I179S	possibly damaging	Het
Upb1	T	A	10: 75,248,667 (GRCm39)	Y57*	probably null	Het
Usp34	C	T	11: 23,396,614 (GRCm39)	T2349I		Het
Vmn1r71	A	G	7: 10,482,277 (GRCm39)	V137A	possibly damaging	Het
Vmn1r85	T	C	7: 12,818,698 (GRCm39)	I149V	probably benign	Het
Vmn2r118	A	G	17: 55,900,242 (GRCm39)	L554P	probably damaging	Het
Zbbx	A	T	3: 74,985,781 (GRCm39)	S424T	possibly damaging	Het
Zfp207	C	G	11: 80,282,726 (GRCm39)	P246A	probably damaging	Het
Zfp414	T	A	17: 33,848,962 (GRCm39)	Y65*	probably null	Het
Zfp600	T	A	4: 146,133,523 (GRCm39)	N730K	probably benign	Het
Zfp827	T	C	8: 79,912,979 (GRCm39)	L1073P	probably damaging	Het
Zfp986	A	G	4: 145,625,691 (GRCm39)	K117R	possibly damaging	Het
Zgrf1	T	A	3: 127,357,080 (GRCm39)	Y769N	probably damaging	Het
Zup1	A	T	10: 33,795,315 (GRCm39)	I547N	unknown	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
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
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'- GTAGACAGAAGGCTGGGTTC -3'
(R):5'- CCAGATTGTTTCCGTGGACTC -3'

Sequencing Primer
(F):5'- AGAAGGCTGGGTTCTCTCCTC -3'
(R):5'- GATTGTTTCCGTGGACTCTTGCC -3'

Posted On

2019-12-20