Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02616:Wdr19'

300657

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr19

Ensembl Gene

ENSMUSG00000037890

Gene Name

WD repeat domain 19

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02616

Quality Score

Status

Chromosome

Chromosomal Location

65199696-65260415 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65223581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 344 (H344Q)

Ref Sequence

ENSEMBL: ENSMUSP00000144866 (fasta)

Gene Model

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

AlphaFold

Q3UGF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041892
AA Change: H344Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: H344Q

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

noncoding transcript
Transcript: ENSMUST00000203359

Predicted Effect

probably damaging
Transcript: ENSMUST00000203653
AA Change: H344Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: H344Q

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

noncoding transcript
Transcript: ENSMUST00000203676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204647

Coding Region Coverage

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,161,662	R190G	probably benign	Het
4931406B18Rik	T	C	7: 43,501,013		probably null	Het
Adcy4	T	C	14: 55,783,514		probably null	Het
Ahnak	C	A	19: 9,005,627	P1425Q	probably benign	Het
Arih1	A	G	9: 59,412,476	V285A	probably benign	Het
Atp13a1	T	C	8: 69,805,313	V906A	probably benign	Het
Atp2a2	A	T	5: 122,461,684	I548N	probably benign	Het
C2cd5	A	T	6: 143,035,111	S643T	probably benign	Het
Calcoco1	T	C	15: 102,715,850	D210G	probably damaging	Het
Cep128	A	G	12: 91,296,258	I289T	probably benign	Het
Ces1c	C	T	8: 93,106,615	M407I	probably benign	Het
Cntln	T	G	4: 85,115,452		probably null	Het
Cypt12	T	A	3: 17,948,728	H88Q	possibly damaging	Het
Ddc	T	A	11: 11,880,645		probably benign	Het
Dnajb12	T	C	10: 59,892,863		probably null	Het
Gata2	A	G	6: 88,205,480	T477A	possibly damaging	Het
Gckr	A	G	5: 31,327,075	D619G	probably benign	Het
Gm5699	A	T	1: 30,998,351		noncoding transcript	Het
Gm8257	T	A	14: 44,655,226	S106C	probably damaging	Het
Gpr15	A	C	16: 58,718,204	L174R	probably damaging	Het
Hnrnph3	T	A	10: 63,019,485	H7L	possibly damaging	Het
Ide	A	T	19: 37,298,056	I518N	unknown	Het
Igdcc4	G	A	9: 65,133,078	G957D	probably damaging	Het
Igsf10	G	A	3: 59,318,606	P2549S	probably benign	Het
Kcnj9	A	G	1: 172,325,964	S198P	probably damaging	Het
Lclat1	T	C	17: 73,169,533	I45T	probably benign	Het
Met	T	C	6: 17,553,347	L1044S	probably damaging	Het
Msh4	T	C	3: 153,857,523	T739A	probably benign	Het
Ncam1	T	C	9: 49,508,688	E776G	probably benign	Het
Ndufv3	G	A	17: 31,527,669	V178M	probably damaging	Het
Nlgn1	T	C	3: 25,434,245	Y613C	probably damaging	Het
Nmbr	T	C	10: 14,760,687		probably benign	Het
Orc1	T	A	4: 108,595,479	W184R	probably benign	Het
Pde6b	T	C	5: 108,431,541	S850P	probably benign	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Pnpt1	T	C	11: 29,135,505		probably benign	Het
Pomt2	T	A	12: 87,124,862	H378L	probably damaging	Het
Sh3gl3	C	T	7: 82,285,018		probably benign	Het
Thsd7a	A	T	6: 12,408,985	N679K	probably damaging	Het
Tns2	T	C	15: 102,111,415	M572T	probably benign	Het
Twf2	C	T	9: 106,212,756	Q103*	probably null	Het
Uncx	T	C	5: 139,546,768	I196T	possibly damaging	Het
Urgcp	A	G	11: 5,717,400	S313P	probably damaging	Het
Vmn1r222	A	T	13: 23,232,141	C301S	possibly damaging	Het
Vmn2r111	T	A	17: 22,571,050	Q325L	possibly damaging	Het
Vps4a	C	T	8: 107,042,277	R236W	probably damaging	Het
Wiz	A	T	17: 32,359,469	D356E	probably damaging	Het
Zc3h10	T	C	10: 128,544,882	E202G	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
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
R4609_Wdr19_503	UTSW	5	65228542	missense	possibly damaging	0.83
R7190_Wdr19_539	UTSW	5	65240862	missense	probably benign	0.35
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
R7190:Wdr19	UTSW	5	65240862	missense	probably benign	0.35
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
R8960:Wdr19	UTSW	5	65240868	missense	probably benign
R9260:Wdr19	UTSW	5	65206446	missense	possibly damaging	0.90
X0028:Wdr19	UTSW	5	65244144	nonsense	probably null

Posted On

2015-04-16