Incidental Mutation 'R2190:Wdr19'
| ID |
238017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr19
|
| Ensembl Gene |
ENSMUSG00000037890 |
| Gene Name |
WD repeat domain 19 |
| Synonyms |
D330023L08Rik, DYF2, C330027H04Rik, Ift144 |
| MMRRC Submission |
040192-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2190 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65357039-65417758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65401509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 975
(V975I)
|
| 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: V975I
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: V975I
| 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 |
noncoding transcript
Transcript: ENSMUST00000203359
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203653
AA Change: V975I
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: V975I
| 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 |
noncoding transcript
Transcript: ENSMUST00000204647
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
T |
8: 111,766,785 (GRCm39) |
T56S |
probably damaging |
Het |
| Acbd6 |
A |
T |
1: 155,500,652 (GRCm39) |
H204L |
probably damaging |
Het |
| Acnat2 |
T |
A |
4: 49,383,551 (GRCm39) |
M1L |
probably benign |
Het |
| Adgrg5 |
A |
T |
8: 95,660,579 (GRCm39) |
I73F |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,219,487 (GRCm39) |
T474A |
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,782,365 (GRCm39) |
D252G |
possibly damaging |
Het |
| Aspg |
G |
T |
12: 112,091,322 (GRCm39) |
E501D |
probably damaging |
Het |
| Bicral |
A |
G |
17: 47,136,049 (GRCm39) |
I387T |
probably damaging |
Het |
| Bub1 |
T |
C |
2: 127,652,645 (GRCm39) |
N574S |
probably benign |
Het |
| Casr |
G |
A |
16: 36,315,778 (GRCm39) |
T764M |
probably damaging |
Het |
| Ccdc60 |
A |
G |
5: 116,295,639 (GRCm39) |
S259P |
probably damaging |
Het |
| Ccne2 |
A |
T |
4: 11,197,241 (GRCm39) |
N181I |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,091,260 (GRCm39) |
D89G |
probably benign |
Het |
| Col25a1 |
C |
T |
3: 130,378,364 (GRCm39) |
P606S |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,680,491 (GRCm39) |
S582P |
possibly damaging |
Het |
| Dlg4 |
A |
G |
11: 69,933,430 (GRCm39) |
D619G |
probably damaging |
Het |
| Elavl2 |
C |
T |
4: 91,152,331 (GRCm39) |
V129I |
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,366,552 (GRCm39) |
I965T |
probably benign |
Het |
| Fbxw16 |
G |
A |
9: 109,265,739 (GRCm39) |
S360L |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,221,330 (GRCm39) |
Y158C |
probably damaging |
Het |
| Gm44511 |
A |
G |
6: 128,803,163 (GRCm39) |
I16T |
possibly damaging |
Het |
| Has2 |
C |
A |
15: 56,531,183 (GRCm39) |
V511F |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,109,185 (GRCm39) |
R1025C |
probably damaging |
Het |
| Hsd17b12 |
T |
C |
2: 93,864,408 (GRCm39) |
Y233C |
probably benign |
Het |
| Il36rn |
A |
T |
2: 24,170,831 (GRCm39) |
I43F |
probably damaging |
Het |
| Inpp5b |
T |
A |
4: 124,678,988 (GRCm39) |
I465N |
probably damaging |
Het |
| Irak2 |
T |
A |
6: 113,663,904 (GRCm39) |
N423K |
probably damaging |
Het |
| Itga2 |
C |
A |
13: 115,007,141 (GRCm39) |
V396L |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,874,685 (GRCm39) |
T212A |
possibly damaging |
Het |
| Lipo2 |
A |
T |
19: 33,725,969 (GRCm39) |
N94K |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,390,869 (GRCm39) |
T1519A |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,353,005 (GRCm39) |
V1558A |
probably benign |
Het |
| Mocos |
C |
A |
18: 24,797,114 (GRCm39) |
H91Q |
probably benign |
Het |
| Myh14 |
G |
A |
7: 44,310,487 (GRCm39) |
T132I |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,322,237 (GRCm39) |
D803E |
possibly damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,704,018 (GRCm39) |
I173N |
probably damaging |
Het |
| Or14c43 |
A |
G |
7: 86,115,573 (GRCm39) |
Y318C |
possibly damaging |
Het |
| Or5b105 |
T |
G |
19: 13,079,857 (GRCm39) |
K270N |
probably damaging |
Het |
| Pitx3 |
T |
C |
19: 46,125,486 (GRCm39) |
Y86C |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,807,709 (GRCm39) |
S520G |
probably benign |
Het |
| Pygo1 |
C |
T |
9: 72,852,529 (GRCm39) |
Q239* |
probably null |
Het |
| Rab13 |
A |
G |
3: 90,130,851 (GRCm39) |
E68G |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,525,201 (GRCm39) |
E797G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,261,937 (GRCm39) |
|
probably null |
Het |
| Slco1c1 |
A |
G |
6: 141,508,893 (GRCm39) |
T518A |
probably benign |
Het |
| Spint1 |
A |
G |
2: 119,068,661 (GRCm39) |
I132V |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,544,601 (GRCm39) |
I4514N |
probably benign |
Het |
| Tenm3 |
T |
G |
8: 48,848,579 (GRCm39) |
S87R |
probably damaging |
Het |
| Thap4 |
G |
T |
1: 93,678,381 (GRCm39) |
P135Q |
probably damaging |
Het |
| Tmed9 |
A |
G |
13: 55,741,156 (GRCm39) |
E57G |
probably benign |
Het |
| Tnrc18 |
C |
T |
5: 142,761,644 (GRCm39) |
V594I |
unknown |
Het |
| Trmt1 |
A |
T |
8: 85,416,470 (GRCm39) |
K64* |
probably null |
Het |
| Usf2 |
A |
G |
7: 30,654,606 (GRCm39) |
V198A |
probably damaging |
Het |
| Usp14 |
A |
T |
18: 10,007,835 (GRCm39) |
C168S |
probably damaging |
Het |
| Vav3 |
C |
A |
3: 109,470,130 (GRCm39) |
T525K |
probably damaging |
Het |
| Vmn1r52 |
A |
G |
6: 90,156,151 (GRCm39) |
I152V |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,104,085 (GRCm39) |
D236G |
possibly 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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGTCAGGTATAAATAGATAACGC -3'
(R):5'- CATAGGTTATACAGGCGAGCC -3'
Sequencing Primer
(F):5'- CAGCATTAGTGTGGGTCTTCACC -3'
(R):5'- CTGTGTGCACACCCCTCTGAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation