Incidental Mutation 'IGL02616:Wdr19'
ID300657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr19
Ensembl Gene ENSMUSG00000037890
Gene NameWD repeat domain 19
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02616
Quality Score
Status
Chromosome5
Chromosomal Location65199696-65260415 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 65223581 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
X0028:Wdr19 UTSW 5 65244144 nonsense probably null
Posted On2015-04-16