Incidental Mutation 'IGL01346:Wdr19'
ID 75073
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 # IGL01346
Quality Score
Status
Chromosome 5
Chromosomal Location 65357039-65417758 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 65379082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041892] [ENSMUST00000203653]
AlphaFold Q3UGF1
Predicted Effect probably benign
Transcript: ENSMUST00000041892
SMART Domains Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890

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
SMART Domains Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,152,980 (GRCm39) V135A unknown Het
Cnot4 A T 6: 35,047,183 (GRCm39) I143N probably damaging Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnaaf9 A G 2: 130,633,766 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Dusp1 T C 17: 26,725,295 (GRCm39) N355D probably benign Het
Fam76b T C 9: 13,741,046 (GRCm39) C60R probably damaging Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Ift88 A T 14: 57,681,862 (GRCm39) E215D probably damaging Het
Kcnu1 T C 8: 26,424,551 (GRCm39) probably benign Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Or4c118 A G 2: 88,974,575 (GRCm39) F264S possibly damaging Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Ppt1 T A 4: 122,737,848 (GRCm39) I62K probably damaging Het
Proser3 T C 7: 30,249,071 (GRCm39) N7S probably benign Het
Ptk2b A G 14: 66,414,567 (GRCm39) L311P possibly damaging Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Smurf2 T A 11: 106,721,741 (GRCm39) probably benign Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tmco4 T C 4: 138,748,260 (GRCm39) I280T probably damaging Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Zfp595 T A 13: 67,464,749 (GRCm39) K505* probably null Het
Other mutations in Wdr19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Wdr19 APN 5 65,409,642 (GRCm39) missense probably benign 0.41
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
IGL03083:Wdr19 APN 5 65,388,319 (GRCm39) missense probably benign 0.01
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 2013-10-07