Mutagenetix > Incidental Mutations

Incidental Mutation 'R7190:Wdr19'

559539

Institutional Source

Beutler Lab

Gene Symbol

Wdr19

Ensembl Gene

ENSMUSG00000037890

Gene Name

WD repeat domain 19

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65199696-65260415 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65240862 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 810 (D810G)

Ref Sequence

ENSEMBL: ENSMUSP00000038098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041892] [ENSMUST00000203653]

Predicted Effect

probably benign
Transcript: ENSMUST00000041892
AA Change: D810G

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: D810G

Domain	Start	End	E-Value	Type
WD40	6	42	4.26e1	SMART
WD40	44	83	2.13e1	SMART
WD40	85	125	2.75e1	SMART
WD40	128	166	2.67e-1	SMART
Blast:WD40	220	258	6e-9	BLAST
WD40	264	302	1.46e-1	SMART
Blast:WD40	308	347	2e-18	BLAST
Pfam:WD40_3	508	564	2.7e-32	PFAM
low complexity region	1103	1116	N/A	INTRINSIC
low complexity region	1259	1268	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203653
AA Change: D810G

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: D810G

Domain	Start	End	E-Value	Type
WD40	6	42	4.26e1	SMART
WD40	44	83	2.13e1	SMART
WD40	85	125	2.75e1	SMART
WD40	128	166	2.67e-1	SMART
Blast:WD40	220	258	6e-9	BLAST
WD40	264	302	1.46e-1	SMART
Blast:WD40	308	347	2e-18	BLAST
Pfam:WD40_3	508	564	2.7e-32	PFAM
low complexity region	1103	1116	N/A	INTRINSIC
low complexity region	1259	1268	N/A	INTRINSIC

Meta Mutation Damage Score

0.1213

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E10. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	C	T	19: 53,216,899	R27*	probably null	Het
Armc3	T	A	2: 19,293,136	Y573N	probably damaging	Het
BC024978	G	A	7: 27,201,123	A176T	probably damaging	Het
Bod1l	A	C	5: 41,819,938	N1344K	probably benign	Het
Camta1	T	G	4: 151,148,523	N231T	possibly damaging	Het
Capza2	T	A	6: 17,654,121	Y57*	probably null	Het
Ccdc186	T	A	19: 56,792,000	I871F	probably damaging	Het
Cntnap5b	A	G	1: 100,431,849		probably null	Het
Dnah2	G	T	11: 69,549,097		probably null	Het
Fhod3	T	C	18: 25,090,755	F1053L	probably damaging	Het
Foxj1	A	G	11: 116,332,375	Y201H	possibly damaging	Het
Gatad2b	T	A	3: 90,350,415	I210N	probably benign	Het
Gba	T	A	3: 89,204,362	I112N	probably damaging	Het
Gbp2	T	C	3: 142,633,447	V420A	probably benign	Het
Gm3106	T	G	5: 94,218,237	N71K	probably benign	Het
Gm8251	A	C	1: 44,061,615	S108A	probably benign	Het
Golga3	T	A	5: 110,209,855	H1072Q	probably damaging	Het
Gpr150	C	T	13: 76,055,873	A318T	probably benign	Het
Gpr6	T	C	10: 41,070,960	N209D	probably damaging	Het
Grin2b	T	C	6: 135,732,948	N1200S	possibly damaging	Het
Ifi207	G	A	1: 173,730,252	H307Y	unknown	Het
Il20ra	A	T	10: 19,742,941	I46F	probably damaging	Het
Lvrn	A	G	18: 46,900,503	D927G	probably benign	Het
Nlrc4	G	T	17: 74,445,203	D728E	probably damaging	Het
Nup107	T	C	10: 117,762,135	D630G	probably benign	Het
Olfr378	A	T	11: 73,425,164	I273N	probably benign	Het
Olfr787	T	C	10: 129,462,757	I27T	probably benign	Het
Pclo	C	A	5: 14,679,729	A2867D	unknown	Het
Perm1	A	G	4: 156,219,815	T754A	possibly damaging	Het
Plpbp	G	T	8: 27,051,297	V162L	probably benign	Het
Plscr4	A	T	9: 92,488,641	E220D	probably benign	Het
Ppp2r3a	A	T	9: 101,212,527	M199K	probably benign	Het
Rassf6	T	C	5: 90,606,807	E204G	probably damaging	Het
Reln	A	C	5: 22,047,947	D667E	probably damaging	Het
Rere	A	G	4: 150,610,953	I462V	unknown	Het
Rpain	A	G	11: 70,971,909	E76G	possibly damaging	Het
Strc	T	G	2: 121,369,026	I1311L	probably benign	Het
Svil	A	G	18: 5,092,937	M1385V	probably benign	Het
Syne2	T	A	12: 76,066,587	D1083E	probably benign	Het
Szt2	T	A	4: 118,389,006	H986L	probably damaging	Het
Tcl1b2	G	T	12: 105,147,234		probably null	Het
Thy1	T	A	9: 44,046,925	S117T	possibly damaging	Het
Tmem183a	A	T	1: 134,354,758	I203N	probably damaging	Het
Tmprss11g	T	C	5: 86,496,632	I118V	probably benign	Het
Tsen34	T	C	7: 3,694,807	V69A	possibly damaging	Het
Ttn	T	C	2: 76,886,799	Q7506R	unknown	Het
Vmn1r184	T	C	7: 26,267,680	S284P	probably damaging	Het
Zer1	T	C	2: 30,103,432	D554G	probably damaging	Het
Zfp626	A	T	7: 27,818,343	T250S	probably benign	Het

Other mutations in Wdr19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Wdr19	APN	5	65252299	missense	probably benign	0.41
IGL01346:Wdr19	APN	5	65221739	splice site	probably benign
IGL01761:Wdr19	APN	5	65215820	missense	possibly damaging	0.60
IGL01845:Wdr19	APN	5	65225366	missense	probably damaging	0.98
IGL01977:Wdr19	APN	5	65228569	missense	probably benign
IGL02314:Wdr19	APN	5	65257120	missense	probably benign	0.26
IGL02455:Wdr19	APN	5	65224759	missense	probably benign	0.01
IGL02542:Wdr19	APN	5	65231071	missense	probably benign
IGL02616:Wdr19	APN	5	65223581	missense	probably damaging	0.97
IGL02661:Wdr19	APN	5	65245808	missense	probably benign	0.06
IGL02927:Wdr19	APN	5	65252378	missense	possibly damaging	0.80
IGL02958:Wdr19	APN	5	65212807	splice site	probably null
IGL03083:Wdr19	APN	5	65230976	missense	probably benign	0.01
IGL03332:Wdr19	APN	5	65227143	missense	possibly damaging	0.89
detritus	UTSW	5	65212891	missense	possibly damaging	0.59
refuse	UTSW	5	65228292	missense	possibly damaging	0.64
R0924:Wdr19	UTSW	5	65256439	splice site	probably benign
R1178:Wdr19	UTSW	5	65223865	missense	probably damaging	0.98
R1229:Wdr19	UTSW	5	65256391	missense	possibly damaging	0.94
R1434:Wdr19	UTSW	5	65223504	splice site	probably benign
R1543:Wdr19	UTSW	5	65224690	missense	probably benign	0.06
R1819:Wdr19	UTSW	5	65212891	missense	possibly damaging	0.59
R1971:Wdr19	UTSW	5	65241160	splice site	probably benign
R2190:Wdr19	UTSW	5	65244166	missense	possibly damaging	0.89
R2274:Wdr19	UTSW	5	65240991	missense	possibly damaging	0.62
R3106:Wdr19	UTSW	5	65202623	missense	probably benign	0.20
R3753:Wdr19	UTSW	5	65224726	missense	probably damaging	1.00
R3893:Wdr19	UTSW	5	65228292	missense	possibly damaging	0.64
R4609:Wdr19	UTSW	5	65228542	missense	possibly damaging	0.83
R5284:Wdr19	UTSW	5	65225409	missense	probably damaging	1.00
R5328:Wdr19	UTSW	5	65244179	missense	probably damaging	1.00
R5530:Wdr19	UTSW	5	65228219	missense	probably benign
R5837:Wdr19	UTSW	5	65202957	missense	probably benign	0.08
R5902:Wdr19	UTSW	5	65227139	missense	probably benign	0.09
R6065:Wdr19	UTSW	5	65221713	missense	probably benign
R6419:Wdr19	UTSW	5	65215893	missense	possibly damaging	0.63
R6495:Wdr19	UTSW	5	65258123	missense	probably benign	0.00
R6916:Wdr19	UTSW	5	65225334	missense	possibly damaging	0.64
R7020:Wdr19	UTSW	5	65256314	missense	probably damaging	0.99
R7972:Wdr19	UTSW	5	65223850	missense	probably damaging	1.00
R8328:Wdr19	UTSW	5	65225295	missense	probably damaging	0.97
R8390:Wdr19	UTSW	5	65223867	nonsense	probably null
X0028:Wdr19	UTSW	5	65244144	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCCAAACCCTCTGAGAAG -3'
(R):5'- ATTGCTGCAATGACAAAGGCAC -3'

Sequencing Primer
(F):5'- CCTCTGAGAAGAAACAAGAACTTTG -3'
(R):5'- GAACGGTTCTGATCGGAGCAC -3'

Posted On

2019-06-26