Incidental Mutation 'R2274:Wdr19'
ID |
244957 |
Institutional Source |
Beutler Lab
|
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)
|
Stock # |
R2274 (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 A
at 65398334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 853
(M853K)
|
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: M853K
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000038098 Gene: ENSMUSG00000037890 AA Change: M853K
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: M853K
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000144866 Gene: ENSMUSG00000037890 AA Change: M853K
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: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
A |
T |
11: 99,728,667 (GRCm39) |
C59S |
possibly damaging |
Het |
Abca5 |
A |
T |
11: 110,166,107 (GRCm39) |
N1556K |
possibly damaging |
Het |
Abcb10 |
G |
T |
8: 124,709,491 (GRCm39) |
A21E |
probably benign |
Het |
Ackr1 |
T |
C |
1: 173,160,052 (GRCm39) |
N156D |
probably benign |
Het |
Adamtsl3 |
A |
T |
7: 82,255,766 (GRCm39) |
S1593C |
probably benign |
Het |
Ank3 |
T |
A |
10: 69,786,772 (GRCm39) |
|
probably null |
Het |
Aqp4 |
A |
G |
18: 15,526,537 (GRCm39) |
S315P |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,510,848 (GRCm39) |
I433V |
probably benign |
Het |
Bco1 |
G |
A |
8: 117,835,522 (GRCm39) |
|
probably null |
Het |
Cacna1g |
T |
A |
11: 94,306,762 (GRCm39) |
E1842V |
probably damaging |
Het |
Calhm3 |
T |
A |
19: 47,145,986 (GRCm39) |
Q73L |
probably damaging |
Het |
Car5a |
C |
T |
8: 122,671,408 (GRCm39) |
|
probably null |
Het |
Cdk11b |
T |
A |
4: 155,732,051 (GRCm39) |
|
probably benign |
Het |
Cdr2 |
A |
T |
7: 120,557,732 (GRCm39) |
H264Q |
possibly damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
D7Ertd443e |
A |
G |
7: 133,871,930 (GRCm39) |
S644P |
probably damaging |
Het |
Dnlz |
A |
T |
2: 26,241,483 (GRCm39) |
C82S |
probably damaging |
Het |
Egr4 |
A |
T |
6: 85,489,725 (GRCm39) |
F112I |
probably damaging |
Het |
Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
F11 |
T |
C |
8: 45,705,184 (GRCm39) |
D119G |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,050,048 (GRCm39) |
V3970D |
possibly damaging |
Het |
Fbxw5 |
C |
A |
2: 25,394,773 (GRCm39) |
C222* |
probably null |
Het |
Fn1 |
C |
T |
1: 71,653,102 (GRCm39) |
G1296R |
probably null |
Het |
Ghr |
A |
G |
15: 3,349,507 (GRCm39) |
V557A |
probably benign |
Het |
Gm11568 |
A |
G |
11: 99,749,070 (GRCm39) |
S92G |
unknown |
Het |
Gpatch1 |
A |
T |
7: 34,988,103 (GRCm39) |
S678T |
probably benign |
Het |
Gpr155 |
A |
G |
2: 73,178,479 (GRCm39) |
|
probably null |
Het |
Gucy2f |
A |
T |
X: 140,899,269 (GRCm39) |
M697K |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,520,653 (GRCm39) |
T195A |
probably benign |
Het |
Hoxd1 |
A |
G |
2: 74,594,501 (GRCm39) |
K252R |
probably damaging |
Het |
Iqck |
G |
A |
7: 118,498,880 (GRCm39) |
D173N |
possibly damaging |
Het |
Irf8 |
A |
G |
8: 121,480,266 (GRCm39) |
E168G |
probably damaging |
Het |
Kcnh1 |
T |
G |
1: 192,019,829 (GRCm39) |
V358G |
probably damaging |
Het |
Kifap3 |
T |
A |
1: 163,696,327 (GRCm39) |
V652D |
possibly damaging |
Het |
L3hypdh |
T |
C |
12: 72,131,632 (GRCm39) |
Y100C |
possibly damaging |
Het |
Map4k1 |
T |
A |
7: 28,701,382 (GRCm39) |
H729Q |
probably damaging |
Het |
Marchf1 |
T |
A |
8: 66,840,151 (GRCm39) |
N311K |
probably benign |
Het |
Mier2 |
T |
C |
10: 79,380,368 (GRCm39) |
I321V |
probably damaging |
Het |
Mta1 |
C |
T |
12: 113,091,770 (GRCm39) |
S291L |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,081,184 (GRCm39) |
K1267E |
possibly damaging |
Het |
Nbea |
A |
T |
3: 55,895,506 (GRCm39) |
|
probably null |
Het |
Nexmif |
T |
G |
X: 103,131,452 (GRCm39) |
E155A |
possibly damaging |
Het |
Nkpd1 |
A |
G |
7: 19,257,822 (GRCm39) |
I534V |
probably benign |
Het |
Nxph1 |
G |
T |
6: 9,247,746 (GRCm39) |
C239F |
probably damaging |
Het |
Odc1 |
A |
G |
12: 17,598,425 (GRCm39) |
I189V |
probably benign |
Het |
Or1n1 |
A |
T |
2: 36,750,113 (GRCm39) |
N82K |
probably damaging |
Het |
Or2t44 |
T |
C |
11: 58,677,492 (GRCm39) |
V144A |
probably benign |
Het |
Or5d41 |
A |
G |
2: 88,055,167 (GRCm39) |
F70L |
probably benign |
Het |
Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
Pcdhb15 |
T |
C |
18: 37,608,496 (GRCm39) |
L576P |
probably damaging |
Het |
Raph1 |
T |
C |
1: 60,537,659 (GRCm39) |
D499G |
probably damaging |
Het |
Rptor |
T |
A |
11: 119,647,148 (GRCm39) |
C246* |
probably null |
Het |
Rtl1 |
T |
C |
12: 109,561,101 (GRCm39) |
E246G |
unknown |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc12a3 |
T |
A |
8: 95,059,915 (GRCm39) |
I187N |
possibly damaging |
Het |
Slc46a1 |
T |
G |
11: 78,357,249 (GRCm39) |
S101A |
probably benign |
Het |
Slc4a8 |
A |
G |
15: 100,705,283 (GRCm39) |
M830V |
probably benign |
Het |
Sned1 |
T |
A |
1: 93,209,364 (GRCm39) |
|
probably null |
Het |
St3gal6 |
T |
A |
16: 58,309,332 (GRCm39) |
E34D |
possibly damaging |
Het |
Tcstv3 |
C |
T |
13: 120,779,190 (GRCm39) |
Q30* |
probably null |
Het |
Tex16 |
T |
A |
X: 111,030,838 (GRCm39) |
D1112E |
probably damaging |
Het |
Tmcc3 |
G |
A |
10: 94,414,777 (GRCm39) |
V160I |
probably damaging |
Het |
Tmf1 |
T |
A |
6: 97,140,547 (GRCm39) |
L776F |
probably damaging |
Het |
Tsr1 |
A |
T |
11: 74,795,653 (GRCm39) |
|
probably null |
Het |
Tyrp1 |
A |
T |
4: 80,755,771 (GRCm39) |
E180V |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,846,685 (GRCm39) |
V1636A |
probably benign |
Het |
Usp1 |
T |
C |
4: 98,818,079 (GRCm39) |
L139P |
probably damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
Vmn1r49 |
G |
A |
6: 90,049,126 (GRCm39) |
T292I |
probably benign |
Het |
Zkscan8 |
C |
T |
13: 21,705,966 (GRCm39) |
M265I |
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 |
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'- ACGATGAGCTAGCATTTGCC -3'
(R):5'- TGAACGTGAACTCATCTACAGAGG -3'
Sequencing Primer
(F):5'- CTTGCTGTCACAGGAACACG -3'
(R):5'- GTGAACTCATCTACAGAGGAACTAC -3'
|
Posted On |
2014-10-30 |