Incidental Mutation 'IGL03083:Wdr19'
ID 417939
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr19
Ensembl Gene ENSMUSG00000037890
Gene Name WD repeat domain 19
Synonyms D330023L08Rik, DYF2, C330027H04Rik, Ift144
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03083
Quality Score
Status
Chromosome 5
Chromosomal Location 65357039-65417758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65388319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 668 (I668T)
Ref Sequence ENSEMBL: ENSMUSP00000144866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041892] [ENSMUST00000203653]
AlphaFold Q3UGF1
Predicted Effect probably benign
Transcript: ENSMUST00000041892
AA Change: I668T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: I668T

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: I668T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: I668T

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: 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,932,261 (GRCm39) probably null Het
Acadsb A C 7: 131,042,922 (GRCm39) probably benign Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd24 G A 10: 81,474,483 (GRCm39) A72T probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Efhb A T 17: 53,706,087 (GRCm39) W817R probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fndc3b T C 3: 27,521,576 (GRCm39) D533G probably benign Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Mios T A 6: 8,215,156 (GRCm39) N117K probably damaging Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
P2ry1 A G 3: 60,911,736 (GRCm39) T292A probably benign Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Sbno2 A T 10: 79,893,368 (GRCm39) M1311K probably damaging Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Slc9a4 A G 1: 40,668,562 (GRCm39) E735G probably benign Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Sult1e1 T A 5: 87,737,983 (GRCm39) M33L probably benign Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Top1 A G 2: 160,545,498 (GRCm39) T289A probably damaging Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Vmn1r54 T C 6: 90,246,854 (GRCm39) I256T possibly damaging Het
Other mutations in Wdr19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Wdr19 APN 5 65,409,642 (GRCm39) missense probably benign 0.41
IGL01346:Wdr19 APN 5 65,379,082 (GRCm39) splice site probably benign
IGL01761:Wdr19 APN 5 65,373,163 (GRCm39) missense possibly damaging 0.60
IGL01845:Wdr19 APN 5 65,382,709 (GRCm39) missense probably damaging 0.98
IGL01977:Wdr19 APN 5 65,385,912 (GRCm39) missense probably benign
IGL02314:Wdr19 APN 5 65,414,463 (GRCm39) missense probably benign 0.26
IGL02455:Wdr19 APN 5 65,382,102 (GRCm39) missense probably benign 0.01
IGL02542:Wdr19 APN 5 65,388,414 (GRCm39) missense probably benign
IGL02616:Wdr19 APN 5 65,380,924 (GRCm39) missense probably damaging 0.97
IGL02661:Wdr19 APN 5 65,403,151 (GRCm39) missense probably benign 0.06
IGL02927:Wdr19 APN 5 65,409,721 (GRCm39) missense possibly damaging 0.80
IGL02958:Wdr19 APN 5 65,370,150 (GRCm39) splice site probably null
IGL03332:Wdr19 APN 5 65,384,486 (GRCm39) missense possibly damaging 0.89
detritus UTSW 5 65,370,234 (GRCm39) missense possibly damaging 0.59
R4609_Wdr19_503 UTSW 5 65,385,885 (GRCm39) missense possibly damaging 0.83
R7190_Wdr19_539 UTSW 5 65,398,205 (GRCm39) missense probably benign 0.35
refuse UTSW 5 65,385,635 (GRCm39) missense possibly damaging 0.64
R0924:Wdr19 UTSW 5 65,413,782 (GRCm39) splice site probably benign
R1178:Wdr19 UTSW 5 65,381,208 (GRCm39) missense probably damaging 0.98
R1229:Wdr19 UTSW 5 65,413,734 (GRCm39) missense possibly damaging 0.94
R1434:Wdr19 UTSW 5 65,380,847 (GRCm39) splice site probably benign
R1543:Wdr19 UTSW 5 65,382,033 (GRCm39) missense probably benign 0.06
R1819:Wdr19 UTSW 5 65,370,234 (GRCm39) missense possibly damaging 0.59
R1971:Wdr19 UTSW 5 65,398,503 (GRCm39) splice site probably benign
R2190:Wdr19 UTSW 5 65,401,509 (GRCm39) missense possibly damaging 0.89
R2274:Wdr19 UTSW 5 65,398,334 (GRCm39) missense possibly damaging 0.62
R3106:Wdr19 UTSW 5 65,359,966 (GRCm39) missense probably benign 0.20
R3753:Wdr19 UTSW 5 65,382,069 (GRCm39) missense probably damaging 1.00
R3893:Wdr19 UTSW 5 65,385,635 (GRCm39) missense possibly damaging 0.64
R4609:Wdr19 UTSW 5 65,385,885 (GRCm39) missense possibly damaging 0.83
R5284:Wdr19 UTSW 5 65,382,752 (GRCm39) missense probably damaging 1.00
R5328:Wdr19 UTSW 5 65,401,522 (GRCm39) missense probably damaging 1.00
R5530:Wdr19 UTSW 5 65,385,562 (GRCm39) missense probably benign
R5837:Wdr19 UTSW 5 65,360,300 (GRCm39) missense probably benign 0.08
R5902:Wdr19 UTSW 5 65,384,482 (GRCm39) missense probably benign 0.09
R6065:Wdr19 UTSW 5 65,379,056 (GRCm39) missense probably benign
R6419:Wdr19 UTSW 5 65,373,236 (GRCm39) missense possibly damaging 0.63
R6495:Wdr19 UTSW 5 65,415,466 (GRCm39) missense probably benign 0.00
R6916:Wdr19 UTSW 5 65,382,677 (GRCm39) missense possibly damaging 0.64
R7020:Wdr19 UTSW 5 65,413,657 (GRCm39) missense probably damaging 0.99
R7190:Wdr19 UTSW 5 65,398,205 (GRCm39) missense probably benign 0.35
R7972:Wdr19 UTSW 5 65,381,193 (GRCm39) missense probably damaging 1.00
R8328:Wdr19 UTSW 5 65,382,638 (GRCm39) missense probably damaging 0.97
R8390:Wdr19 UTSW 5 65,381,210 (GRCm39) nonsense probably null
R8960:Wdr19 UTSW 5 65,398,211 (GRCm39) missense probably benign
R9260:Wdr19 UTSW 5 65,363,789 (GRCm39) missense possibly damaging 0.90
X0028:Wdr19 UTSW 5 65,401,487 (GRCm39) nonsense probably null
Posted On 2016-08-02