Incidental Mutation 'IGL00985:Wdr19'
ID27547
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 #IGL00985
Quality Score
Status
Chromosome5
Chromosomal Location65199696-65260415 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 65252299 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 1127 (D1127N)
Ref Sequence ENSEMBL: ENSMUSP00000144866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041892] [ENSMUST00000203653]
Predicted Effect probably benign
Transcript: ENSMUST00000041892
AA Change: D1127N

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: D1127N

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 benign
Transcript: ENSMUST00000203554
Predicted Effect probably benign
Transcript: ENSMUST00000203653
AA Change: D1127N

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: D1127N

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630091E08Rik G T 7: 98,543,918 noncoding transcript Het
Abca15 G A 7: 120,397,018 G1389E probably damaging Het
Adcy3 T C 12: 4,134,600 V92A probably damaging Het
Aplnr A T 2: 85,137,663 Y344F probably benign Het
Atm A T 9: 53,459,816 V2241E probably damaging Het
Cep290 T C 10: 100,567,161 probably benign Het
Cnpy1 A T 5: 28,209,154 Y91* probably null Het
Cobl C A 11: 12,254,843 G613W probably damaging Het
Csn1s2a T C 5: 87,784,580 S121P possibly damaging Het
Doxl2 A G 6: 48,977,547 S540G probably benign Het
Fam129c T C 8: 71,604,863 probably benign Het
Fam198a T C 9: 121,978,335 L515P probably damaging Het
Flg2 A T 3: 93,203,278 Y871F unknown Het
Gapvd1 T A 2: 34,695,563 D1008V probably damaging Het
Igfl3 T C 7: 18,180,075 probably null Het
Kmt2b A T 7: 30,579,927 V1470E probably damaging Het
Mcc A T 18: 44,491,239 L413Q probably damaging Het
Mia2 G A 12: 59,188,360 G610D probably damaging Het
Mlst8 A T 17: 24,477,313 D147E probably damaging Het
Muc19 G T 15: 91,886,749 noncoding transcript Het
Mybpc3 A G 2: 91,135,359 E1172G probably benign Het
Nop14 A T 5: 34,644,789 L557Q probably damaging Het
P3h3 T C 6: 124,845,589 T540A probably benign Het
Phc3 T A 3: 30,914,197 I897F probably benign Het
Plekhh2 G A 17: 84,563,928 V205I probably benign Het
Poc5 A G 13: 96,410,746 K506E probably damaging Het
Pum1 C A 4: 130,743,789 T450K probably damaging Het
Retnlg G A 16: 48,874,325 R112H possibly damaging Het
Rgl2 T C 17: 33,932,101 V101A probably damaging Het
Serinc5 A G 13: 92,706,271 T410A probably damaging Het
Shroom1 T C 11: 53,465,969 V553A probably benign Het
Slco4c1 A T 1: 96,841,187 W317R probably damaging Het
Snap91 T C 9: 86,821,737 T268A probably benign Het
Supt16 T C 14: 52,161,691 K1044E possibly damaging Het
Tarbp1 A T 8: 126,459,161 L431I probably damaging Het
Tas2r124 C T 6: 132,755,529 T267I probably benign Het
Tm7sf3 C T 6: 146,606,194 V457I possibly damaging Het
Tmem132c A T 5: 127,504,866 S382C probably damaging Het
Tmprss7 C A 16: 45,662,322 C582F probably damaging Het
Tsc2 T C 17: 24,597,131 E1694G probably damaging Het
Txndc2 G T 17: 65,638,549 S211Y possibly damaging Het
Ubr3 A C 2: 70,003,431 T205P probably damaging Het
Vmn2r116 G A 17: 23,401,515 G741D probably damaging Het
Vps8 G A 16: 21,477,584 probably benign Het
Zim1 T A 7: 6,682,760 Y83F possibly damaging Het
Other mutations in Wdr19
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
X0028:Wdr19 UTSW 5 65244144 nonsense probably null
Posted On2013-04-17