Incidental Mutation 'R5837:Wdr19'
ID |
449641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr19
|
Ensembl Gene |
ENSMUSG00000037890 |
Gene Name |
WD repeat domain 19 |
Synonyms |
D330023L08Rik, DYF2, C330027H04Rik, Ift144 |
MMRRC Submission |
044057-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5837 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
65357039-65417758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65360300 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 35
(D35G)
|
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: D35G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000038098 Gene: ENSMUSG00000037890 AA Change: D35G
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: D35G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000144866 Gene: ENSMUSG00000037890 AA Change: D35G
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: ENSMUST00000204582
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204647
|
Meta Mutation Damage Score |
0.3853 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
99% (72/73) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
G |
A |
2: 25,323,371 (GRCm39) |
R113Q |
probably benign |
Het |
Ank1 |
A |
G |
8: 23,594,806 (GRCm39) |
N605D |
probably damaging |
Het |
Apob |
A |
G |
12: 8,053,277 (GRCm39) |
M1240V |
probably benign |
Het |
Atf1 |
T |
A |
15: 100,152,265 (GRCm39) |
I86N |
probably damaging |
Het |
Best1 |
T |
A |
19: 9,966,483 (GRCm39) |
|
probably null |
Het |
Bet1l |
C |
A |
7: 140,434,694 (GRCm39) |
R51L |
probably benign |
Het |
Bpifa5 |
A |
G |
2: 154,005,598 (GRCm39) |
Y60C |
probably damaging |
Het |
Ccdc141 |
G |
T |
2: 76,938,781 (GRCm39) |
Q275K |
possibly damaging |
Het |
Cep295 |
T |
A |
9: 15,258,280 (GRCm39) |
H241L |
probably damaging |
Het |
Commd7 |
A |
G |
2: 153,471,144 (GRCm39) |
V36A |
possibly damaging |
Het |
Cyld |
G |
A |
8: 89,468,032 (GRCm39) |
S555N |
probably damaging |
Het |
Cyp2j13 |
A |
T |
4: 95,959,919 (GRCm39) |
I79N |
probably damaging |
Het |
Dact2 |
A |
G |
17: 14,416,515 (GRCm39) |
S562P |
probably damaging |
Het |
Dnajc13 |
T |
A |
9: 104,053,865 (GRCm39) |
I1664F |
possibly damaging |
Het |
Ehmt1 |
A |
G |
2: 24,753,926 (GRCm39) |
V277A |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,221,054 (GRCm39) |
|
probably null |
Het |
Galnt6 |
G |
A |
15: 100,592,527 (GRCm39) |
T560M |
possibly damaging |
Het |
Glra1 |
G |
T |
11: 55,427,333 (GRCm39) |
|
probably null |
Het |
Gm10762 |
C |
T |
2: 128,809,077 (GRCm39) |
|
probably benign |
Het |
Greb1 |
C |
T |
12: 16,738,586 (GRCm39) |
R1459H |
probably damaging |
Het |
Ift140 |
A |
G |
17: 25,308,514 (GRCm39) |
K1048E |
probably damaging |
Het |
Ilk |
T |
C |
7: 105,390,378 (GRCm39) |
|
probably null |
Het |
Lgi4 |
C |
T |
7: 30,770,208 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,374,105 (GRCm39) |
T59A |
possibly damaging |
Het |
Lzic |
G |
T |
4: 149,570,457 (GRCm39) |
|
probably null |
Het |
Mef2d |
A |
G |
3: 88,069,088 (GRCm39) |
T286A |
probably benign |
Het |
Mycbp2 |
C |
A |
14: 103,361,839 (GRCm39) |
C4447F |
probably damaging |
Het |
Ncoa2 |
A |
G |
1: 13,294,930 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
T |
C |
19: 46,071,622 (GRCm39) |
|
probably benign |
Het |
Npl |
T |
C |
1: 153,379,271 (GRCm39) |
T271A |
probably benign |
Het |
Nudt1 |
A |
G |
5: 140,320,295 (GRCm39) |
R25G |
probably damaging |
Het |
Nudt19 |
T |
C |
7: 35,251,061 (GRCm39) |
E226G |
possibly damaging |
Het |
Oc90 |
T |
C |
15: 65,748,295 (GRCm39) |
D405G |
probably benign |
Het |
Or10q1b |
T |
A |
19: 13,682,324 (GRCm39) |
C44* |
probably null |
Het |
Or1e1c |
A |
G |
11: 73,266,474 (GRCm39) |
M300V |
probably benign |
Het |
Or5as1 |
A |
T |
2: 86,980,699 (GRCm39) |
F102Y |
probably benign |
Het |
Or9k2b |
A |
T |
10: 130,016,266 (GRCm39) |
L161H |
probably damaging |
Het |
Pcdhb1 |
T |
C |
18: 37,398,880 (GRCm39) |
I277T |
possibly damaging |
Het |
Pcdhb9 |
C |
A |
18: 37,535,851 (GRCm39) |
A615E |
probably damaging |
Het |
Phrf1 |
C |
G |
7: 140,839,974 (GRCm39) |
D1056E |
probably benign |
Het |
Phyhip |
C |
A |
14: 70,704,450 (GRCm39) |
A223E |
probably damaging |
Het |
Polr2h |
T |
A |
16: 20,536,682 (GRCm39) |
I4N |
probably damaging |
Het |
Ppp1r12c |
C |
A |
7: 4,500,403 (GRCm39) |
|
probably benign |
Het |
Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
Psg17 |
T |
A |
7: 18,554,140 (GRCm39) |
T37S |
possibly damaging |
Het |
Ptprz1 |
T |
C |
6: 23,001,417 (GRCm39) |
V1169A |
probably benign |
Het |
Rabgap1l |
T |
C |
1: 160,134,792 (GRCm39) |
|
probably benign |
Het |
Rapgef3 |
C |
T |
15: 97,655,223 (GRCm39) |
|
probably benign |
Het |
Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
Robo3 |
T |
A |
9: 37,341,112 (GRCm39) |
|
probably null |
Het |
Slco4c1 |
C |
T |
1: 96,746,707 (GRCm39) |
E712K |
probably benign |
Het |
Ssh3 |
T |
C |
19: 4,316,428 (GRCm39) |
T168A |
probably benign |
Het |
Stoml2 |
G |
T |
4: 43,028,989 (GRCm39) |
N248K |
probably damaging |
Het |
Tmigd1 |
A |
G |
11: 76,806,911 (GRCm39) |
|
probably benign |
Het |
Tnc |
T |
A |
4: 63,931,451 (GRCm39) |
D753V |
probably damaging |
Het |
Tnik |
A |
T |
3: 28,722,202 (GRCm39) |
|
probably benign |
Het |
Treml1 |
A |
G |
17: 48,667,180 (GRCm39) |
S22G |
possibly damaging |
Het |
Trmt2a |
C |
T |
16: 18,067,326 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,547,718 (GRCm39) |
T32151A |
probably damaging |
Het |
Utp25 |
A |
T |
1: 192,800,701 (GRCm39) |
F373Y |
probably damaging |
Het |
Vmn1r67 |
T |
C |
7: 10,180,949 (GRCm39) |
I10T |
probably benign |
Het |
Vmn2r116 |
T |
C |
17: 23,606,054 (GRCm39) |
F322S |
probably damaging |
Het |
Zfp365 |
A |
T |
10: 67,724,870 (GRCm39) |
H339Q |
probably damaging |
Het |
Zfp677 |
A |
T |
17: 21,617,648 (GRCm39) |
H235L |
probably damaging |
Het |
Zpbp2 |
G |
A |
11: 98,442,097 (GRCm39) |
|
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 |
R5530:Wdr19
|
UTSW |
5 |
65,385,562 (GRCm39) |
missense |
probably benign |
|
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'- TGTCCACACCTAACCTGTGC -3'
(R):5'- AAAGGAGATGGGGCTGTTCATTTAG -3'
Sequencing Primer
(F):5'- CTTGTGTGATCATCTGTAGTAGAAAG -3'
(R):5'- TGTCAGATCCTGGAGTTACAGAC -3'
|
Posted On |
2016-12-20 |