Incidental Mutation 'R0924:Wdr19'
ID |
83071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr19
|
Ensembl Gene |
ENSMUSG00000037890 |
Gene Name |
WD repeat domain 19 |
Synonyms |
D330023L08Rik, DYF2, C330027H04Rik, Ift144 |
MMRRC Submission |
039071-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0924 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
65357039-65417758 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 65413782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144866
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041892]
[ENSMUST00000203653]
|
AlphaFold |
Q3UGF1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041892
|
SMART Domains |
Protein: ENSMUSP00000038098 Gene: ENSMUSG00000037890
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: ENSMUST00000203554
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203653
|
SMART Domains |
Protein: ENSMUSP00000144866 Gene: ENSMUSG00000037890
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: 99.5%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.2%
|
Validation Efficiency |
97% (69/71) |
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 |
Adamts18 |
A |
T |
8: 114,432,028 (GRCm39) |
|
probably null |
Het |
Ahcyl2 |
A |
C |
6: 29,870,627 (GRCm39) |
|
probably null |
Het |
Ajap1 |
T |
A |
4: 153,470,929 (GRCm39) |
I293F |
probably damaging |
Het |
Akap10 |
T |
C |
11: 61,795,689 (GRCm39) |
|
probably benign |
Het |
Aldh3b2 |
T |
C |
19: 4,029,350 (GRCm39) |
V241A |
probably benign |
Het |
Anxa6 |
A |
T |
11: 54,885,214 (GRCm39) |
|
probably null |
Het |
Atpaf1 |
T |
A |
4: 115,652,635 (GRCm39) |
V12D |
probably damaging |
Het |
Aurkb |
C |
A |
11: 68,936,822 (GRCm39) |
Y12* |
probably null |
Het |
Bicdl1 |
A |
G |
5: 115,799,587 (GRCm39) |
|
probably benign |
Het |
Bnc1 |
A |
T |
7: 81,628,156 (GRCm39) |
|
probably benign |
Het |
Bpi |
A |
G |
2: 158,103,346 (GRCm39) |
I114V |
possibly damaging |
Het |
Cacna1c |
A |
T |
6: 118,652,857 (GRCm39) |
I772N |
probably damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,570,860 (GRCm39) |
N1045D |
possibly damaging |
Het |
Ccrl2 |
A |
G |
9: 110,885,036 (GRCm39) |
V154A |
probably benign |
Het |
Celsr3 |
C |
A |
9: 108,723,224 (GRCm39) |
Q2831K |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,280,554 (GRCm39) |
|
probably benign |
Het |
Cul3 |
A |
T |
1: 80,267,835 (GRCm39) |
M102K |
probably damaging |
Het |
Cwf19l2 |
T |
C |
9: 3,441,047 (GRCm39) |
|
probably benign |
Het |
Dlg5 |
G |
A |
14: 24,185,645 (GRCm39) |
P1920L |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,312,134 (GRCm39) |
H4393R |
probably damaging |
Het |
Eif2b3 |
T |
A |
4: 116,938,775 (GRCm39) |
V408D |
possibly damaging |
Het |
Eml3 |
T |
C |
19: 8,910,675 (GRCm39) |
|
probably null |
Het |
Enpp2 |
T |
C |
15: 54,770,355 (GRCm39) |
|
probably benign |
Het |
Fcgbpl1 |
A |
T |
7: 27,839,555 (GRCm39) |
Y456F |
probably damaging |
Het |
Gm14178 |
T |
A |
11: 99,638,326 (GRCm39) |
T18S |
|
Het |
H2bc12 |
G |
A |
13: 22,220,210 (GRCm39) |
D52N |
probably damaging |
Het |
H2-M11 |
A |
G |
17: 36,860,106 (GRCm39) |
M324V |
probably benign |
Het |
H2-T13 |
A |
T |
17: 36,394,824 (GRCm39) |
V33E |
probably damaging |
Het |
Hdac10 |
T |
C |
15: 89,010,065 (GRCm39) |
T298A |
probably benign |
Het |
Hepacam |
A |
C |
9: 37,295,224 (GRCm39) |
|
probably benign |
Het |
Hmx3 |
A |
T |
7: 131,144,813 (GRCm39) |
H41L |
probably benign |
Het |
Ifi27l2a |
A |
G |
12: 103,408,639 (GRCm39) |
V68A |
probably damaging |
Het |
Itga11 |
A |
G |
9: 62,683,956 (GRCm39) |
E1079G |
probably benign |
Het |
Krt6a |
T |
C |
15: 101,599,235 (GRCm39) |
|
probably benign |
Het |
L1td1 |
A |
G |
4: 98,625,862 (GRCm39) |
N686D |
probably damaging |
Het |
Lrrtm2 |
G |
A |
18: 35,346,808 (GRCm39) |
R165C |
probably damaging |
Het |
Macf1 |
G |
T |
4: 123,279,271 (GRCm39) |
A3910E |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,361,252 (GRCm39) |
Y1521F |
possibly damaging |
Het |
Myo7a |
A |
T |
7: 97,747,463 (GRCm39) |
I129N |
probably damaging |
Het |
Ncam1 |
A |
T |
9: 49,473,476 (GRCm39) |
|
probably benign |
Het |
Nckap1 |
A |
T |
2: 80,384,593 (GRCm39) |
C114S |
probably benign |
Het |
Nf1 |
T |
G |
11: 79,344,692 (GRCm39) |
W1260G |
probably damaging |
Het |
Or3a1d |
T |
C |
11: 74,237,624 (GRCm39) |
Y262C |
probably damaging |
Het |
Or6b2b |
A |
G |
1: 92,419,127 (GRCm39) |
S117P |
possibly damaging |
Het |
Or6c76b |
A |
T |
10: 129,692,515 (GRCm39) |
I43F |
probably damaging |
Het |
Oxtr |
A |
T |
6: 112,466,598 (GRCm39) |
|
probably null |
Het |
Pabpc4 |
C |
T |
4: 123,188,458 (GRCm39) |
R356C |
possibly damaging |
Het |
Pcbp2 |
T |
A |
15: 102,398,197 (GRCm39) |
D182E |
probably damaging |
Het |
Pgm2 |
A |
T |
5: 64,269,490 (GRCm39) |
I526F |
possibly damaging |
Het |
Rab43 |
A |
T |
6: 87,769,752 (GRCm39) |
Y151* |
probably null |
Het |
Rbm19 |
A |
G |
5: 120,264,269 (GRCm39) |
E343G |
probably benign |
Het |
Rel |
A |
T |
11: 23,692,439 (GRCm39) |
D531E |
probably benign |
Het |
Rfx4 |
T |
A |
10: 84,704,291 (GRCm39) |
V262E |
probably damaging |
Het |
Rnf31 |
T |
C |
14: 55,830,459 (GRCm39) |
|
probably benign |
Het |
Robo3 |
T |
A |
9: 37,340,778 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,672,178 (GRCm39) |
L1431P |
probably damaging |
Het |
Sema3d |
A |
C |
5: 12,513,183 (GRCm39) |
D51A |
possibly damaging |
Het |
Sema6a |
A |
G |
18: 47,381,559 (GRCm39) |
L996P |
probably damaging |
Het |
Sh2d4a |
T |
A |
8: 68,787,775 (GRCm39) |
F294I |
probably damaging |
Het |
Sorl1 |
T |
A |
9: 41,919,470 (GRCm39) |
|
probably benign |
Het |
Sox1ot |
G |
T |
8: 12,480,455 (GRCm39) |
|
noncoding transcript |
Het |
Spsb3 |
A |
T |
17: 25,110,358 (GRCm39) |
N395I |
probably damaging |
Het |
Sptan1 |
A |
G |
2: 29,906,040 (GRCm39) |
N1662S |
probably damaging |
Het |
Srd5a2 |
G |
T |
17: 74,331,516 (GRCm39) |
N160K |
probably damaging |
Het |
Sting1 |
A |
G |
18: 35,868,154 (GRCm39) |
|
probably null |
Het |
Tmem132d |
G |
A |
5: 128,061,503 (GRCm39) |
|
probably benign |
Het |
Unc80 |
A |
T |
1: 66,549,800 (GRCm39) |
Q686L |
possibly damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,524,443 (GRCm39) |
T146A |
probably benign |
Het |
Zfp646 |
C |
T |
7: 127,482,982 (GRCm39) |
Q1500* |
probably null |
Het |
Zfp683 |
T |
C |
4: 133,783,138 (GRCm39) |
Y201H |
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 |
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 |
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'- GTCTTGCAGACATCGTGCCTATCC -3'
(R):5'- ACAGACCTTTTCAGGCCAGTGAGC -3'
Sequencing Primer
(F):5'- GACATCGTGCCTATCCTGACG -3'
(R):5'- catccagtatggtggctatgag -3'
|
Posted On |
2013-11-08 |