Incidental Mutation 'IGL02455:Wdr19'
| ID |
293800 |
| 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 # |
IGL02455
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
65357039-65417758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 65382102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 441
(A441S)
|
| 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: A441S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: A441S
| 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: A441S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: A441S
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
G |
17: 36,271,021 (GRCm39) |
V479A |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,141,864 (GRCm39) |
D235G |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,984,175 (GRCm39) |
N359S |
possibly damaging |
Het |
| Cebpz |
G |
T |
17: 79,242,465 (GRCm39) |
N396K |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,720,092 (GRCm39) |
W2493R |
probably benign |
Het |
| Clca3a2 |
C |
T |
3: 144,787,172 (GRCm39) |
V500M |
probably benign |
Het |
| Clec4a4 |
A |
C |
6: 122,990,739 (GRCm39) |
N160H |
possibly damaging |
Het |
| Crb2 |
T |
C |
2: 37,684,576 (GRCm39) |
S1139P |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,891,308 (GRCm39) |
I771T |
probably damaging |
Het |
| Etfbkmt |
C |
T |
6: 149,048,724 (GRCm39) |
A121V |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,005,280 (GRCm39) |
L1893Q |
possibly damaging |
Het |
| Fbxw13 |
A |
T |
9: 109,012,255 (GRCm39) |
S188T |
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,841 (GRCm39) |
D143G |
probably benign |
Het |
| Foxj3 |
C |
A |
4: 119,477,434 (GRCm39) |
H381N |
unknown |
Het |
| Gpr158 |
A |
T |
2: 21,373,511 (GRCm39) |
T149S |
probably benign |
Het |
| Ift74 |
C |
T |
4: 94,524,068 (GRCm39) |
Q195* |
probably null |
Het |
| Kif2c |
C |
A |
4: 117,029,551 (GRCm39) |
M143I |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,278,303 (GRCm39) |
|
probably null |
Het |
| Krt84 |
C |
T |
15: 101,434,170 (GRCm39) |
R599H |
unknown |
Het |
| Ly6g6f |
C |
T |
17: 35,301,866 (GRCm39) |
R196H |
possibly damaging |
Het |
| Map4 |
C |
A |
9: 109,828,901 (GRCm39) |
N95K |
probably benign |
Het |
| Mrgprx3-ps |
T |
A |
7: 46,959,263 (GRCm39) |
|
noncoding transcript |
Het |
| Mroh9 |
T |
C |
1: 162,903,149 (GRCm39) |
M85V |
probably benign |
Het |
| Npffr2 |
T |
C |
5: 89,715,994 (GRCm39) |
I107T |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,617,313 (GRCm39) |
V737A |
probably damaging |
Het |
| Oprm1 |
A |
G |
10: 6,780,219 (GRCm39) |
T294A |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,868,198 (GRCm39) |
E11G |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,927 (GRCm39) |
S137T |
possibly damaging |
Het |
| Or7g32 |
C |
T |
9: 19,408,559 (GRCm39) |
Q172* |
probably null |
Het |
| Parvg |
A |
G |
15: 84,214,283 (GRCm39) |
R156G |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,590,189 (GRCm39) |
S830P |
unknown |
Het |
| Pde11a |
T |
C |
2: 75,988,737 (GRCm39) |
D468G |
possibly damaging |
Het |
| Peak1 |
A |
T |
9: 56,134,757 (GRCm39) |
S195T |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,434,425 (GRCm39) |
Y2338H |
probably damaging |
Het |
| Ppp1r1b |
A |
T |
11: 98,241,395 (GRCm39) |
I28F |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,400,084 (GRCm39) |
Y2326C |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,006,302 (GRCm39) |
L223I |
probably damaging |
Het |
| Runx3 |
T |
A |
4: 134,902,841 (GRCm39) |
Y310N |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,615,398 (GRCm39) |
D76N |
possibly damaging |
Het |
| Slfn4 |
A |
T |
11: 83,077,584 (GRCm39) |
N124I |
probably damaging |
Het |
| Spata13 |
G |
A |
14: 60,944,163 (GRCm39) |
V519I |
probably benign |
Het |
| Ssh3 |
C |
T |
19: 4,314,460 (GRCm39) |
E365K |
probably damaging |
Het |
| Strc |
A |
G |
2: 121,206,272 (GRCm39) |
|
probably benign |
Het |
| Tdp2 |
T |
A |
13: 25,025,245 (GRCm39) |
I338N |
probably damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,457 (GRCm39) |
R205S |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,077,037 (GRCm39) |
D796G |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,821,038 (GRCm39) |
S712P |
probably damaging |
Het |
| Zcchc14 |
A |
G |
8: 122,333,009 (GRCm39) |
|
probably benign |
Het |
| Zfp608 |
T |
G |
18: 55,032,405 (GRCm39) |
S512R |
probably 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 |
|
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 |
2015-04-16 |
Incidental Mutation