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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |