Incidental Mutation 'IGL02616:Wdr19'
ID 300657
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 # IGL02616
Quality Score
Status
Chromosome 5
Chromosomal Location 65357039-65417758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65380924 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3UGF1
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: 83,138,644 (GRCm39) R190G probably benign Het
4931406B18Rik T C 7: 43,150,437 (GRCm39) probably null Het
Adcy4 T C 14: 56,020,971 (GRCm39) probably null Het
Ahnak C A 19: 8,982,991 (GRCm39) P1425Q probably benign Het
Arih1 A G 9: 59,319,759 (GRCm39) V285A probably benign Het
Atp13a1 T C 8: 70,257,963 (GRCm39) V906A probably benign Het
Atp2a2 A T 5: 122,599,747 (GRCm39) I548N probably benign Het
C2cd5 A T 6: 142,980,837 (GRCm39) S643T probably benign Het
Calcoco1 T C 15: 102,624,285 (GRCm39) D210G probably damaging Het
Cep128 A G 12: 91,263,032 (GRCm39) I289T probably benign Het
Ces1c C T 8: 93,833,243 (GRCm39) M407I probably benign Het
Cntln T G 4: 85,033,689 (GRCm39) probably null Het
Cypt12 T A 3: 18,002,892 (GRCm39) H88Q possibly damaging Het
Ddc T A 11: 11,830,645 (GRCm39) probably benign Het
Dnajb12 T C 10: 59,728,685 (GRCm39) probably null Het
Gata2 A G 6: 88,182,462 (GRCm39) T477A possibly damaging Het
Gckr A G 5: 31,484,419 (GRCm39) D619G probably benign Het
Gm5699 A T 1: 31,037,432 (GRCm39) noncoding transcript Het
Gm8257 T A 14: 44,892,683 (GRCm39) S106C probably damaging Het
Gpr15 A C 16: 58,538,567 (GRCm39) L174R probably damaging Het
Hnrnph3 T A 10: 62,855,264 (GRCm39) H7L possibly damaging Het
Ide A T 19: 37,275,455 (GRCm39) I518N unknown Het
Igdcc4 G A 9: 65,040,360 (GRCm39) G957D probably damaging Het
Igsf10 G A 3: 59,226,027 (GRCm39) P2549S probably benign Het
Kcnj9 A G 1: 172,153,531 (GRCm39) S198P probably damaging Het
Lclat1 T C 17: 73,476,528 (GRCm39) I45T probably benign Het
Met T C 6: 17,553,346 (GRCm39) L1044S probably damaging Het
Msh4 T C 3: 153,563,160 (GRCm39) T739A probably benign Het
Ncam1 T C 9: 49,419,988 (GRCm39) E776G probably benign Het
Ndufv3 G A 17: 31,746,643 (GRCm39) V178M probably damaging Het
Nlgn1 T C 3: 25,488,409 (GRCm39) Y613C probably damaging Het
Nmbr T C 10: 14,636,431 (GRCm39) probably benign Het
Orc1 T A 4: 108,452,676 (GRCm39) W184R probably benign Het
Pde6b T C 5: 108,579,407 (GRCm39) S850P probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pnpt1 T C 11: 29,085,505 (GRCm39) probably benign Het
Pomt2 T A 12: 87,171,636 (GRCm39) H378L probably damaging Het
Sh3gl3 C T 7: 81,934,226 (GRCm39) probably benign Het
Thsd7a A T 6: 12,408,984 (GRCm39) N679K probably damaging Het
Tns2 T C 15: 102,019,850 (GRCm39) M572T probably benign Het
Twf2 C T 9: 106,089,955 (GRCm39) Q103* probably null Het
Uncx T C 5: 139,532,523 (GRCm39) I196T possibly damaging Het
Urgcp A G 11: 5,667,400 (GRCm39) S313P probably damaging Het
Vmn1r222 A T 13: 23,416,311 (GRCm39) C301S possibly damaging Het
Vmn2r111 T A 17: 22,790,031 (GRCm39) Q325L possibly damaging Het
Vps4a C T 8: 107,768,909 (GRCm39) R236W probably damaging Het
Wiz A T 17: 32,578,443 (GRCm39) D356E probably damaging Het
Zc3h10 T C 10: 128,380,751 (GRCm39) E202G probably benign 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
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 2015-04-16