Incidental Mutation 'R6916:Wdr19'
ID 539342
Institutional Source Beutler Lab
Gene Symbol Wdr19
Ensembl Gene ENSMUSG00000037890
Gene Name WD repeat domain 19
Synonyms D330023L08Rik, DYF2, C330027H04Rik, Ift144
MMRRC Submission 045037-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6916 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 65357039-65417758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65382677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 467 (R467Q)
Ref Sequence ENSEMBL: ENSMUSP00000144866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041892] [ENSMUST00000203653]
AlphaFold Q3UGF1
Predicted Effect possibly damaging
Transcript: ENSMUST00000041892
AA Change: R467Q

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: R467Q

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 possibly damaging
Transcript: ENSMUST00000203653
AA Change: R467Q

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: R467Q

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (59/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,211,318 (GRCm39) I684K possibly damaging Het
Abcg3 T A 5: 105,122,601 (GRCm39) R97S probably benign Het
Acin1 A T 14: 54,902,873 (GRCm39) F160L probably benign Het
Aoc1l2 T A 6: 48,907,987 (GRCm39) I329N probably benign Het
Asb10 T C 5: 24,742,854 (GRCm39) D293G probably damaging Het
Atp6v1c1 T C 15: 38,677,825 (GRCm39) S117P probably benign Het
Bahcc1 T A 11: 120,163,835 (GRCm39) V711E probably damaging Het
Baz2b A T 2: 59,799,120 (GRCm39) S335T probably benign Het
Bdkrb2 C T 12: 105,558,038 (GRCm39) A93V probably damaging Het
Cacna1d A T 14: 29,817,321 (GRCm39) V1247D probably damaging Het
Cenpb A C 2: 131,021,544 (GRCm39) F85V probably benign Het
Cep112 C A 11: 108,750,202 (GRCm39) Q142K probably damaging Het
Ciita T A 16: 10,327,071 (GRCm39) probably null Het
Cnr1 A G 4: 33,943,897 (GRCm39) D95G probably benign Het
Ctnnd1 A T 2: 84,439,990 (GRCm39) D767E probably benign Het
Ddx20 T C 3: 105,587,929 (GRCm39) N384D probably damaging Het
Dnaaf3 T A 7: 4,530,532 (GRCm39) D191V probably damaging Het
Efna1 T C 3: 89,183,695 (GRCm39) N44D possibly damaging Het
Errfi1 A T 4: 150,951,930 (GRCm39) K453* probably null Het
Fam149a C A 8: 45,803,443 (GRCm39) K349N probably damaging Het
Fbxl20 T A 11: 98,004,079 (GRCm39) I70L possibly damaging Het
Flnb C T 14: 7,907,171 (GRCm38) T1248I probably damaging Het
Frem2 T C 3: 53,455,109 (GRCm39) R2156G probably damaging Het
Ftl1 T C 7: 45,108,964 (GRCm39) Y31C probably damaging Het
Gm5862 G T 5: 26,224,346 (GRCm39) H208N probably benign Het
Hc A T 2: 34,900,044 (GRCm39) Y1096* probably null Het
Hps1 ATCCTCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 19: 42,755,164 (GRCm39) Het
Ints3 T C 3: 90,313,641 (GRCm39) D329G probably damaging Het
Irak3 A T 10: 120,037,270 (GRCm39) L32Q probably damaging Het
Kifbp T C 10: 62,401,843 (GRCm39) T20A probably benign Het
Klrb1f A T 6: 129,030,774 (GRCm39) D95V probably benign Het
Krt79 C T 15: 101,844,605 (GRCm39) D260N probably benign Het
Lrp11 C A 10: 7,484,478 (GRCm39) probably null Het
Lrrc10 C A 10: 116,881,454 (GRCm39) R43S possibly damaging Het
Muc5b A T 7: 141,418,454 (GRCm39) Y3800F possibly damaging Het
Myh14 T C 7: 44,278,737 (GRCm39) K1003E probably damaging Het
Nbeal2 A G 9: 110,455,176 (GRCm39) I2567T probably damaging Het
Necab2 G T 8: 120,194,355 (GRCm39) R277L probably damaging Het
Nell1 T C 7: 50,350,927 (GRCm39) Y525H probably benign Het
Olfm4 T A 14: 80,251,638 (GRCm39) M186K probably damaging Het
Or10d1c T C 9: 38,894,200 (GRCm39) I47V probably benign Het
Or1e29 T A 11: 73,667,895 (GRCm39) Q86L probably benign Het
Or2h2b-ps1 T C 17: 37,480,864 (GRCm39) K225R probably benign Het
Pcdhb11 A T 18: 37,555,434 (GRCm39) S255C possibly damaging Het
Rrbp1 A T 2: 143,816,518 (GRCm39) C704S probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sh2d3c C T 2: 32,642,665 (GRCm39) R552* probably null Het
Sh3d19 A G 3: 85,992,218 (GRCm39) E82G probably benign Het
Son T A 16: 91,451,673 (GRCm39) L140Q probably damaging Het
Svil G A 18: 5,114,682 (GRCm39) probably benign Het
Syne1 T C 10: 5,177,912 (GRCm39) K4854R probably benign Het
Tlcd4 T C 3: 121,000,805 (GRCm39) D276G possibly damaging Het
Tmem202 C A 9: 59,432,757 (GRCm39) probably benign Het
Trak2 T C 1: 58,949,184 (GRCm39) T539A probably benign Het
Trdn T C 10: 33,033,014 (GRCm39) S80P probably damaging Het
Ugt2b37 T A 5: 87,402,459 (GRCm39) R57S probably benign Het
Usp34 G A 11: 23,408,023 (GRCm39) R2616Q probably damaging Het
Usp48 T C 4: 137,365,544 (GRCm39) Y113H probably damaging Het
Vtcn1 G T 3: 100,795,479 (GRCm39) probably null Het
Wdr72 A G 9: 74,062,321 (GRCm39) Y489C probably benign Het
Wipf1 C A 2: 73,267,748 (GRCm39) G217W probably 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
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
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
Predicted Primers PCR Primer
(F):5'- CAACTGTTTTGTGCAGCTGGC -3'
(R):5'- AGCACTCATACTGCTAGGTTCTAC -3'

Sequencing Primer
(F):5'- CTGGCCTAAGGGAGTAGTTGAAC -3'
(R):5'- AAATGGCCAGTCACTTCTTCATTTG -3'
Posted On 2018-11-06