Incidental Mutation 'IGL02661:Wdr19'
ID302563
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 #IGL02661
Quality Score
Status
Chromosome5
Chromosomal Location65199696-65260415 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 65245808 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 1005 (T1005I)
Ref Sequence ENSEMBL: ENSMUSP00000144866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041892] [ENSMUST00000203653]
Predicted Effect probably benign
Transcript: ENSMUST00000041892
AA Change: T1005I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: T1005I

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: ENSMUST00000203653
AA Change: T1005I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: T1005I

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: 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik G T 18: 52,660,494 W33L probably damaging Het
Adam34 A T 8: 43,651,535 C358S probably damaging Het
Ak5 C A 3: 152,463,956 V561F probably benign Het
Ap1s1 T C 5: 137,037,473 D158G probably benign Het
Bard1 A G 1: 71,075,310 S171P probably damaging Het
Bsn A C 9: 108,106,936 Y534* probably null Het
Clcn4 A T 7: 7,291,731 probably null Het
Cyp2j7 T C 4: 96,236,650 T4A probably benign Het
Dnajc10 T A 2: 80,326,740 probably benign Het
Dtl G T 1: 191,541,371 T475N probably benign Het
Eif3m T C 2: 105,004,969 Y120C probably damaging Het
Gab1 A G 8: 80,788,937 S251P probably damaging Het
Gba T A 3: 89,203,527 V14E probably benign Het
Ggcx C T 6: 72,418,360 P145S possibly damaging Het
Gm13889 G A 2: 93,956,679 T150I probably benign Het
Gm4978 C A 9: 69,450,898 probably benign Het
Herc2 A G 7: 56,113,073 D850G probably damaging Het
Hspa1l A G 17: 34,977,275 I97V probably benign Het
Ighv1-4 T G 12: 114,487,230 K86T probably damaging Het
Ints4 C A 7: 97,495,705 L175I probably benign Het
Kif13b T G 14: 64,767,691 V1144G probably benign Het
Kpna3 T A 14: 61,372,949 probably benign Het
Man2c1 A G 9: 57,137,482 D371G probably damaging Het
Mtf1 T C 4: 124,825,109 L305P probably damaging Het
Myo15b T G 11: 115,884,069 V2139G probably benign Het
Nalcn T C 14: 123,592,909 probably benign Het
Neurod2 T C 11: 98,327,579 Q253R possibly damaging Het
Nfkbil1 C A 17: 35,220,671 A289S probably benign Het
Olfr1277 T A 2: 111,269,466 R300S possibly damaging Het
Paxbp1 A T 16: 91,030,525 I474K probably benign Het
Pde6c A T 19: 38,180,800 I798F probably damaging Het
Pon3 T A 6: 5,256,205 T8S probably benign Het
Prkdc A G 16: 15,769,825 T2525A possibly damaging Het
Rnase10 T G 14: 51,009,816 V180G probably damaging Het
Rreb1 T A 13: 37,930,802 C712* probably null Het
Scamp2 T C 9: 57,587,414 probably benign Het
Serpina3i A T 12: 104,265,256 K51* probably null Het
Smyd4 C A 11: 75,390,941 C413* probably null Het
Spata2 C T 2: 167,483,361 V513M probably damaging Het
Sri T A 5: 8,063,252 probably benign Het
Urah A T 7: 140,837,705 K119M probably damaging 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
IGL02616:Wdr19 APN 5 65223581 missense probably damaging 0.97
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