Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Wdr4'

574205

Institutional Source

Beutler Lab

Gene Symbol

Wdr4

Ensembl Gene

ENSMUSG00000024037

Gene Name

WD repeat domain 4

Synonyms

D530049K22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31494323-31519974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31509832 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 123 (L123S)

Ref Sequence

ENSEMBL: ENSMUSP00000126061 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125954
Gene: ENSMUSG00000024037
AA Change: L87S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167419
AA Change: L123S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127617
Gene: ENSMUSG00000024037
AA Change: L123S

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000127073
Gene: ENSMUSG00000024037
AA Change: L84S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171171
AA Change: L123S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126061
Gene: ENSMUSG00000024037
AA Change: L123S

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

SMART Domains

Protein: ENSMUSP00000129736
Gene: ENSMUSG00000024037
AA Change: L84S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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. 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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Adsl	A	G	15: 80,962,782	H263R	probably damaging	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cacna1c	T	C	6: 119,052,708		probably null	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap52	A	T	11: 67,949,633	N157K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Crem	A	G	18: 3,295,329	S80P	probably damaging	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,917,559	V426L	probably benign	Het
Fes	A	G	7: 80,378,776		probably null	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hace1	T	C	10: 45,670,626	L452P	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,302,230	E988G	possibly damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Nisch	A	G	14: 31,206,580	V28A	probably benign	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pabpc4l	A	T	3: 46,446,252	I319N	probably damaging	Het
Pabpc4l	T	A	3: 46,446,589	R207W	probably damaging	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Rsph14	T	A	10: 75,029,796	E70V	possibly damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tars	A	T	15: 11,392,009	L239*	probably null	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	possibly damaging	Het

Other mutations in Wdr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Wdr4	APN	17	31501258	missense	possibly damaging	0.94
IGL03158:Wdr4	APN	17	31499128	missense	probably benign	0.00
R0091:Wdr4	UTSW	17	31496916	missense	probably benign	0.01
R1524:Wdr4	UTSW	17	31509763	intron	probably benign
R2009:Wdr4	UTSW	17	31500610	splice site	probably benign
R3822:Wdr4	UTSW	17	31512221	missense	probably damaging	0.99
R4334:Wdr4	UTSW	17	31499152	missense	possibly damaging	0.70
R4786:Wdr4	UTSW	17	31509811	missense	probably damaging	1.00
R4873:Wdr4	UTSW	17	31499155	missense	probably benign	0.05
R4875:Wdr4	UTSW	17	31499155	missense	probably benign	0.05
R5117:Wdr4	UTSW	17	31499824	missense	probably benign	0.00
R5372:Wdr4	UTSW	17	31510580	missense	probably damaging	1.00
R5757:Wdr4	UTSW	17	31499089	missense	probably damaging	0.98
R6024:Wdr4	UTSW	17	31501298	intron	probably benign
R7836:Wdr4	UTSW	17	31499808	critical splice donor site	probably null
R9727:Wdr4	UTSW	17	31499071	missense	probably benign	0.14
Z1176:Wdr4	UTSW	17	31509899	missense	probably benign	0.15
Z1187:Wdr4	UTSW	17	31512203	missense	probably damaging	1.00
Z1192:Wdr4	UTSW	17	31512203	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTTTCAGTCAGTCTCACACGTAG -3'
(R):5'- AGTCTGCCATCACACTCTGG -3'

Sequencing Primer
(F):5'- GTCAGTCTCACACGTAGCTGATAC -3'
(R):5'- TCTGGCTGCATGAACTGACTGAC -3'

Posted On

2019-09-13