Incidental Mutation 'IGL01761:Wdr19'
| ID |
153589 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01761
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
65357039-65417758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65373163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 142
(I142V)
|
| 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: I142V
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: I142V
| 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: I142V
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: I142V
| 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 |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
T |
C |
17: 37,289,699 (GRCm39) |
T44A |
probably damaging |
Het |
| A2ml1 |
T |
A |
6: 128,523,300 (GRCm39) |
Q1212L |
possibly damaging |
Het |
| A530064D06Rik |
T |
C |
17: 48,460,127 (GRCm39) |
S190G |
possibly damaging |
Het |
| AA986860 |
A |
G |
1: 130,670,459 (GRCm39) |
H227R |
possibly damaging |
Het |
| Ace |
C |
A |
11: 105,870,319 (GRCm39) |
A826E |
possibly damaging |
Het |
| Amigo3 |
G |
A |
9: 107,930,601 (GRCm39) |
G8D |
possibly damaging |
Het |
| Angpt1 |
A |
T |
15: 42,339,863 (GRCm39) |
F283I |
possibly damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,538 (GRCm39) |
L763P |
probably benign |
Het |
| Atr |
T |
C |
9: 95,833,501 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
A |
17: 34,958,912 (GRCm39) |
M506L |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,720,933 (GRCm39) |
|
probably benign |
Het |
| Dcaf17 |
T |
C |
2: 70,886,881 (GRCm39) |
S57P |
probably damaging |
Het |
| Dph5 |
T |
A |
3: 115,693,362 (GRCm39) |
D93E |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,228,426 (GRCm39) |
E33G |
possibly damaging |
Het |
| Fam193b |
G |
A |
13: 55,697,070 (GRCm39) |
T340I |
probably benign |
Het |
| Glod4 |
T |
C |
11: 76,134,428 (GRCm39) |
N15D |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Inpp5k |
A |
G |
11: 75,538,503 (GRCm39) |
E102G |
possibly damaging |
Het |
| Kif27 |
A |
T |
13: 58,485,459 (GRCm39) |
D500E |
probably benign |
Het |
| Lmntd1 |
A |
G |
6: 145,379,448 (GRCm39) |
I15T |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,311,579 (GRCm39) |
R2633H |
possibly damaging |
Het |
| Lrp4 |
G |
A |
2: 91,312,326 (GRCm39) |
|
probably null |
Het |
| Lrrc3b |
A |
C |
14: 15,358,098 (GRCm38) |
N169K |
probably benign |
Het |
| Marchf7 |
T |
C |
2: 60,064,539 (GRCm39) |
S272P |
probably benign |
Het |
| Mier2 |
A |
G |
10: 79,384,186 (GRCm39) |
|
probably null |
Het |
| Myo9b |
G |
A |
8: 71,801,796 (GRCm39) |
S1307N |
probably damaging |
Het |
| Or4c115 |
G |
T |
2: 88,927,888 (GRCm39) |
P128T |
probably damaging |
Het |
| Or5p69 |
T |
G |
7: 107,967,525 (GRCm39) |
V276G |
probably damaging |
Het |
| Phkb |
A |
T |
8: 86,745,693 (GRCm39) |
M629L |
probably benign |
Het |
| Rergl |
C |
A |
6: 139,478,863 (GRCm39) |
V4F |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,103,897 (GRCm39) |
I188N |
probably damaging |
Het |
| Rgs3 |
G |
T |
4: 62,570,946 (GRCm39) |
|
probably benign |
Het |
| Rpl4 |
T |
A |
9: 64,082,221 (GRCm39) |
V40D |
probably damaging |
Het |
| Sox4 |
A |
T |
13: 29,136,790 (GRCm39) |
I72N |
possibly damaging |
Het |
| Syne1 |
A |
C |
10: 5,355,456 (GRCm39) |
V375G |
probably damaging |
Het |
| Tfrc |
G |
T |
16: 32,447,369 (GRCm39) |
D662Y |
probably damaging |
Het |
| Ubqln5 |
T |
C |
7: 103,777,634 (GRCm39) |
R397G |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,695 (GRCm39) |
D257G |
probably damaging |
Het |
| Vmn1r160 |
A |
T |
7: 22,570,868 (GRCm39) |
N74Y |
probably damaging |
Het |
| Vmn1r168 |
T |
A |
7: 23,241,070 (GRCm39) |
I309N |
possibly damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,408,725 (GRCm39) |
L17P |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,423,859 (GRCm39) |
I2680N |
unknown |
Het |
| Zbtb20 |
T |
C |
16: 43,431,024 (GRCm39) |
F512L |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation