Mutagenetix > Incidental Mutation

Incidental Mutation 'R0377:Wdr18'

30812

Institutional Source

Beutler Lab

Gene Symbol

Wdr18

Ensembl Gene

ENSMUSG00000035754

Gene Name

WD repeat domain 18

Synonyms

2310012I10Rik

MMRRC Submission

038583-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R0377 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79795989-79805081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79803336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 400 (R400H)

Ref Sequence

ENSEMBL: ENSMUSP00000041049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045085] [ENSMUST00000045247]

AlphaFold

Q4VBE8

Predicted Effect

probably benign
Transcript: ENSMUST00000045085

SMART Domains

Protein: ENSMUSP00000048576
Gene: ENSMUSG00000035745

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	39	60	N/A	INTRINSIC
low complexity region	217	230	N/A	INTRINSIC
PBPe	458	810	1.01e-82	SMART
Lig_chan-Glu_bd	459	522	6.6e-20	SMART
transmembrane domain	826	848	N/A	INTRINSIC
low complexity region	914	930	N/A	INTRINSIC
coiled coil region	950	984	N/A	INTRINSIC
low complexity region	989	1001	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045247
AA Change: R400H

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041049
Gene: ENSMUSG00000035754
AA Change: R400H

Domain	Start	End	E-Value	Type
Blast:WD40	27	66	3e-17	BLAST
WD40	70	107	1.48e1	SMART
WD40	110	149	1.24e-4	SMART
WD40	161	202	2.49e-1	SMART
WD40	205	243	2.05e1	SMART
WD40	258	297	2.32e-9	SMART
low complexity region	353	367	N/A	INTRINSIC
Pfam:WD40_alt	383	429	4.3e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220249

Meta Mutation Damage Score

0.1060

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

97% (67/69)

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(8) : Targeted(1) Gene trapped(7)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	A	11: 94,265,922 (GRCm39)	V107F	possibly damaging	Het
Acad11	T	A	9: 103,958,891 (GRCm39)		probably benign	Het
Ache	G	A	5: 137,289,190 (GRCm39)	E299K	possibly damaging	Het
Adam5	T	C	8: 25,237,557 (GRCm39)	T618A	probably benign	Het
Amigo2	T	A	15: 97,144,261 (GRCm39)	T54S	possibly damaging	Het
Anapc1	A	G	2: 128,483,260 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,966,402 (GRCm39)	K1057E	probably benign	Het
Cep55	T	A	19: 38,060,337 (GRCm39)	L396*	probably null	Het
Cic	C	A	7: 24,985,224 (GRCm39)	H1157N	probably damaging	Het
Cntnap5a	A	T	1: 116,220,259 (GRCm39)	T690S	probably benign	Het
D5Ertd579e	A	T	5: 36,761,911 (GRCm39)	C1319S	probably benign	Het
Dnah6	A	G	6: 73,098,975 (GRCm39)	S2027P	possibly damaging	Het
Dnai4	A	G	4: 102,905,456 (GRCm39)	V775A	probably damaging	Het
Dntt	G	A	19: 41,036,066 (GRCm39)	W369*	probably null	Het
Esp18	T	A	17: 39,720,835 (GRCm39)	W27R	probably benign	Het
Fam227b	A	T	2: 125,966,920 (GRCm39)		probably benign	Het
Fbxo31	G	A	8: 122,285,841 (GRCm39)		probably benign	Het
Gm13547	G	A	2: 29,651,803 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,940,175 (GRCm39)		probably benign	Het
Gpx2	G	A	12: 76,841,930 (GRCm39)	Q74*	probably null	Het
Gucy2c	A	G	6: 136,727,915 (GRCm39)		probably null	Het
Hoxa5	A	T	6: 52,179,626 (GRCm39)	W250R	probably damaging	Het
Izumo4	G	A	10: 80,538,674 (GRCm39)	R42H	probably damaging	Het
Kcnj12	G	A	11: 60,960,222 (GRCm39)	M71I	probably benign	Het
Kmt2b	A	T	7: 30,273,618 (GRCm39)	L2333Q	probably damaging	Het
Mak	T	C	13: 41,202,824 (GRCm39)	E177G	probably damaging	Het
Map3k7	T	A	4: 31,985,731 (GRCm39)	I218N	probably damaging	Het
Mark3	T	C	12: 111,595,463 (GRCm39)	L393P	probably damaging	Het
Msh4	A	G	3: 153,602,527 (GRCm39)	S234P	probably benign	Het
Mug1	A	G	6: 121,834,320 (GRCm39)	D367G	probably benign	Het
Mypn	A	G	10: 62,963,401 (GRCm39)		probably benign	Het
Ncapg	T	C	5: 45,851,159 (GRCm39)	V784A	probably benign	Het
Nutf2	T	A	8: 106,605,504 (GRCm39)	V113D	probably damaging	Het
Odad2	G	A	18: 7,127,415 (GRCm39)	R933C	probably benign	Het
Opn3	T	C	1: 175,491,260 (GRCm39)	M258V	probably damaging	Het
Or8k33	A	T	2: 86,383,927 (GRCm39)	D180E	probably damaging	Het
Osbpl7	A	G	11: 96,946,760 (GRCm39)	D211G	probably damaging	Het
Pcnx1	C	T	12: 82,021,353 (GRCm39)		probably benign	Het
Plekhd1	G	A	12: 80,753,210 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,591,501 (GRCm39)	E1165G	probably damaging	Het
Prkab2	T	A	3: 97,569,633 (GRCm39)	D66E	probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Ptpn23	A	T	9: 110,217,200 (GRCm39)	S885R	possibly damaging	Het
Rab26	A	T	17: 24,749,019 (GRCm39)		probably benign	Het
Rab5a	G	A	17: 53,807,490 (GRCm39)	M175I	probably benign	Het
Rassf9	T	A	10: 102,381,510 (GRCm39)	D297E	probably benign	Het
Rimbp2	C	T	5: 128,880,925 (GRCm39)	R161Q	probably damaging	Het
Rtp1	A	G	16: 23,250,034 (GRCm39)	Y133C	probably damaging	Het
Sdr16c5	G	A	4: 4,005,546 (GRCm39)	L263F	probably benign	Het
Sec14l1	T	G	11: 117,039,966 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,044,267 (GRCm39)		probably null	Het
Stk36	C	T	1: 74,651,889 (GRCm39)	P394L	probably benign	Het
Stk4	T	C	2: 163,938,720 (GRCm39)	I196T	probably damaging	Het
Sult1b1	A	T	5: 87,665,235 (GRCm39)	M233K	probably damaging	Het
Tmem8b	C	T	4: 43,674,005 (GRCm39)	T212M	probably damaging	Het
Tmprss11g	A	T	5: 86,638,610 (GRCm39)	F293I	probably damaging	Het
Tnfsf11	T	G	14: 78,537,352 (GRCm39)	T104P	probably benign	Het
Trmt2a	G	A	16: 18,067,567 (GRCm39)	R80Q	possibly damaging	Het
Trps1	C	A	15: 50,695,174 (GRCm39)	E324*	probably null	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Zfp119b	T	A	17: 56,245,671 (GRCm39)	H505L	probably damaging	Het
Zfp619	T	A	7: 39,186,221 (GRCm39)	C750*	probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	probably benign	Het

Other mutations in Wdr18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Wdr18	APN	10	79,801,106 (GRCm39)	missense	probably damaging	1.00
IGL02812:Wdr18	APN	10	79,796,898 (GRCm39)	missense	possibly damaging	0.68
IGL02949:Wdr18	APN	10	79,800,889 (GRCm39)	missense	probably benign	0.00
R0066:Wdr18	UTSW	10	79,796,937 (GRCm39)	nonsense	probably null
R0066:Wdr18	UTSW	10	79,796,937 (GRCm39)	nonsense	probably null
R0244:Wdr18	UTSW	10	79,802,242 (GRCm39)	missense	probably damaging	1.00
R0257:Wdr18	UTSW	10	79,796,953 (GRCm39)	splice site	probably benign
R1844:Wdr18	UTSW	10	79,802,561 (GRCm39)	critical splice donor site	probably null
R4179:Wdr18	UTSW	10	79,800,875 (GRCm39)	missense	probably damaging	1.00
R4674:Wdr18	UTSW	10	79,801,069 (GRCm39)	missense	probably benign
R5573:Wdr18	UTSW	10	79,800,872 (GRCm39)	missense	probably benign
R6007:Wdr18	UTSW	10	79,801,177 (GRCm39)	missense	possibly damaging	0.94
R6455:Wdr18	UTSW	10	79,801,115 (GRCm39)	missense	probably damaging	1.00
R7042:Wdr18	UTSW	10	79,801,944 (GRCm39)	missense	probably benign	0.22
R7223:Wdr18	UTSW	10	79,796,202 (GRCm39)	missense	probably damaging	1.00
R7316:Wdr18	UTSW	10	79,801,059 (GRCm39)	missense	probably benign	0.00
R7777:Wdr18	UTSW	10	79,801,884 (GRCm39)	missense	probably benign	0.06
R9117:Wdr18	UTSW	10	79,801,154 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TACAGGGCAAAGAGCCTAGCTACC -3'
(R):5'- CCAGGACACGATGTGAACACTGAG -3'

Sequencing Primer
(F):5'- AGAGCCTAGCTACCTGGAG -3'
(R):5'- CACGATGTGAACACTGAGCTTTG -3'

Posted On

2013-04-24