Incidental Mutation 'R5530:Wdr19'
| ID |
433627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr19
|
| Ensembl Gene |
ENSMUSG00000037890 |
| Gene Name |
WD repeat domain 19 |
| Synonyms |
D330023L08Rik, DYF2, C330027H04Rik, Ift144 |
| MMRRC Submission |
043088-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5530 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65357039-65417758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65385562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 555
(S555P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041892]
[ENSMUST00000203653]
|
| AlphaFold |
Q3UGF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041892
AA Change: S555P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: S555P
| 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 |
probably benign
Transcript: ENSMUST00000203653
AA Change: S555P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: S555P
| 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: ENSMUST00000203676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204647
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.3%
- 20x: 91.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
G |
1: 75,154,556 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
A |
G |
2: 25,174,595 (GRCm39) |
K653E |
possibly damaging |
Het |
| Aplp1 |
T |
C |
7: 30,136,254 (GRCm39) |
S508G |
possibly damaging |
Het |
| Bend3 |
T |
A |
10: 43,387,722 (GRCm39) |
V705D |
probably damaging |
Het |
| Btaf1 |
C |
A |
19: 36,968,175 (GRCm39) |
A1120E |
possibly damaging |
Het |
| Carmil3 |
T |
C |
14: 55,731,081 (GRCm39) |
V116A |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,802,459 (GRCm39) |
Y238* |
probably null |
Het |
| Cep170 |
T |
C |
1: 176,597,076 (GRCm39) |
H427R |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,313,334 (GRCm39) |
R3079W |
probably damaging |
Het |
| Edc4 |
G |
T |
8: 106,615,886 (GRCm39) |
E694* |
probably null |
Het |
| Entrep1 |
T |
A |
19: 23,952,958 (GRCm39) |
T451S |
probably benign |
Het |
| Epb41l4b |
A |
G |
4: 57,086,003 (GRCm39) |
S191P |
probably damaging |
Het |
| Fbxo46 |
T |
C |
7: 18,870,727 (GRCm39) |
Y449H |
probably damaging |
Het |
| Ficd |
C |
A |
5: 113,876,986 (GRCm39) |
P387Q |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,721 (GRCm39) |
T942A |
probably benign |
Het |
| Hoxb1 |
G |
C |
11: 96,257,754 (GRCm39) |
R228P |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,085,541 (GRCm39) |
F2444L |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,962,917 (GRCm39) |
F103S |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,845,836 (GRCm39) |
I402V |
probably benign |
Het |
| Mtcl2 |
T |
A |
2: 156,862,262 (GRCm39) |
S1556C |
probably damaging |
Het |
| Mvp |
A |
G |
7: 126,595,095 (GRCm39) |
V250A |
probably benign |
Het |
| Myo1b |
T |
A |
1: 51,836,582 (GRCm39) |
N293I |
probably damaging |
Het |
| Npy5r |
T |
A |
8: 67,133,512 (GRCm39) |
Y427F |
probably benign |
Het |
| Nrdc |
C |
T |
4: 108,904,806 (GRCm39) |
T747M |
probably damaging |
Het |
| Nrxn2 |
C |
T |
19: 6,548,397 (GRCm39) |
P30L |
possibly damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,656,857 (GRCm39) |
F332S |
probably damaging |
Het |
| Optc |
T |
G |
1: 133,832,828 (GRCm39) |
T91P |
probably benign |
Het |
| Or14j10 |
A |
G |
17: 37,934,698 (GRCm39) |
I276T |
possibly damaging |
Het |
| Or8b12c |
A |
G |
9: 37,716,103 (GRCm39) |
T299A |
probably benign |
Het |
| Otud7b |
A |
T |
3: 96,048,799 (GRCm39) |
E92V |
probably damaging |
Het |
| Pgap4 |
A |
G |
4: 49,586,226 (GRCm39) |
L314P |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,100,036 (GRCm39) |
I677T |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,778,893 (GRCm39) |
E67G |
probably damaging |
Het |
| Ppil6 |
T |
C |
10: 41,383,494 (GRCm39) |
S257P |
probably damaging |
Het |
| Ppp1r14a |
T |
C |
7: 28,988,791 (GRCm39) |
L11P |
probably benign |
Het |
| Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,232 (GRCm39) |
M445K |
probably benign |
Het |
| Rad21l |
A |
T |
2: 151,499,430 (GRCm39) |
I257K |
probably benign |
Het |
| Rbm11 |
A |
G |
16: 75,389,861 (GRCm39) |
D9G |
possibly damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,491,488 (GRCm39) |
Y586C |
probably damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,980,275 (GRCm39) |
I276F |
probably damaging |
Het |
| Sec14l4 |
A |
G |
11: 3,996,342 (GRCm39) |
*404W |
probably null |
Het |
| Sec16a |
A |
G |
2: 26,329,264 (GRCm39) |
V917A |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,887,461 (GRCm39) |
Y131* |
probably null |
Het |
| Sspo |
A |
T |
6: 48,442,517 (GRCm39) |
Y2004F |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,783,026 (GRCm39) |
E674G |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,135,048 (GRCm39) |
S989P |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,031,393 (GRCm39) |
D1005G |
probably damaging |
Het |
| Zdhhc24 |
T |
A |
19: 4,933,591 (GRCm39) |
|
probably null |
Het |
| Zfp558 |
A |
G |
9: 18,367,669 (GRCm39) |
M373T |
probably benign |
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 |
|
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'- TAGAAAGAGAAGCTCTCCTGCC -3'
(R):5'- GCTAATGCCTGGCACAAATATCAG -3'
Sequencing Primer
(F):5'- TGCCGAGGAGAGCTGCTG -3'
(R):5'- GAAAGCTTTCAACTTCACTGCAATGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation