Incidental Mutation 'R5902:Wdr19'
| ID |
456371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr19
|
| Ensembl Gene |
ENSMUSG00000037890 |
| Gene Name |
WD repeat domain 19 |
| Synonyms |
D330023L08Rik, DYF2, C330027H04Rik, Ift144 |
| MMRRC Submission |
044100-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5902 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65357039-65417758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65384482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 525
(N525K)
|
| 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: N525K
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: N525K
| 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: N525K
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: N525K
| 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 |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.1%
|
| Validation Efficiency |
99% (81/82) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,539,281 (GRCm39) |
M1V |
probably null |
Het |
| Abca13 |
T |
A |
11: 9,247,177 (GRCm39) |
L2308H |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,764,463 (GRCm39) |
T1161A |
probably benign |
Het |
| Acin1 |
T |
A |
14: 54,901,130 (GRCm39) |
T659S |
probably benign |
Het |
| Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,385,414 (GRCm39) |
K569E |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,960,712 (GRCm39) |
K39* |
probably null |
Het |
| Aoc2 |
A |
G |
11: 101,220,072 (GRCm39) |
E659G |
probably damaging |
Het |
| Atg7 |
C |
T |
6: 114,650,639 (GRCm39) |
T83M |
possibly damaging |
Het |
| AU022252 |
T |
C |
4: 119,084,101 (GRCm39) |
D104G |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,271,956 (GRCm39) |
Y231C |
possibly damaging |
Het |
| Cdh10 |
T |
G |
15: 18,985,341 (GRCm39) |
|
probably null |
Het |
| Cebpz |
A |
C |
17: 79,233,366 (GRCm39) |
M787R |
probably benign |
Het |
| Chst2 |
A |
G |
9: 95,287,662 (GRCm39) |
L228P |
probably damaging |
Het |
| Clic4 |
T |
C |
4: 134,999,869 (GRCm39) |
K11R |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,729,921 (GRCm39) |
|
probably null |
Het |
| Commd7 |
T |
A |
2: 153,463,737 (GRCm39) |
T144S |
probably damaging |
Het |
| Ctla2a |
T |
A |
13: 61,082,834 (GRCm39) |
*138Y |
probably null |
Het |
| Dhx33 |
A |
T |
11: 70,879,957 (GRCm39) |
V351D |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 65,916,013 (GRCm39) |
T2313I |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,325,977 (GRCm39) |
D780V |
unknown |
Het |
| Dync1li1 |
A |
G |
9: 114,546,929 (GRCm39) |
|
probably null |
Het |
| E2f3 |
C |
T |
13: 30,169,250 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,023,070 (GRCm39) |
|
probably null |
Het |
| Gart |
A |
G |
16: 91,425,415 (GRCm39) |
S617P |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,406,979 (GRCm39) |
N705S |
possibly damaging |
Het |
| Gm4841 |
A |
T |
18: 60,403,868 (GRCm39) |
V75E |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,538,302 (GRCm39) |
E1105G |
probably benign |
Het |
| Hr |
C |
A |
14: 70,795,231 (GRCm39) |
Q288K |
probably benign |
Het |
| Hus1 |
T |
C |
11: 8,960,669 (GRCm39) |
|
probably benign |
Het |
| Ifi47 |
C |
A |
11: 48,986,213 (GRCm39) |
|
probably null |
Het |
| Irf2bp1 |
T |
C |
7: 18,738,372 (GRCm39) |
V4A |
probably benign |
Het |
| Kprp |
C |
T |
3: 92,731,835 (GRCm39) |
C405Y |
unknown |
Het |
| Lacc1 |
T |
C |
14: 77,272,239 (GRCm39) |
I186V |
possibly damaging |
Het |
| Lifr |
A |
G |
15: 7,220,231 (GRCm39) |
T954A |
probably benign |
Het |
| Lonrf2 |
T |
C |
1: 38,846,174 (GRCm39) |
M333V |
probably benign |
Het |
| Mthfd1 |
A |
T |
12: 76,337,826 (GRCm39) |
H400L |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,141,733 (GRCm39) |
K864R |
possibly damaging |
Het |
| Nup50 |
C |
T |
15: 84,819,641 (GRCm39) |
A305V |
probably benign |
Het |
| Or4a74 |
T |
A |
2: 89,439,595 (GRCm39) |
I284L |
probably damaging |
Het |
| Or4k44 |
C |
T |
2: 111,367,739 (GRCm39) |
M298I |
probably benign |
Het |
| Pax4 |
G |
T |
6: 28,447,126 (GRCm39) |
Q3K |
probably benign |
Het |
| Pced1b |
T |
G |
15: 97,282,970 (GRCm39) |
Y336* |
probably null |
Het |
| Postn |
C |
A |
3: 54,279,510 (GRCm39) |
N329K |
probably benign |
Het |
| Prickle1 |
T |
C |
15: 93,408,553 (GRCm39) |
E82G |
probably null |
Het |
| Prtn3 |
T |
C |
10: 79,718,766 (GRCm39) |
Y241H |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,068,011 (GRCm39) |
I260K |
probably damaging |
Het |
| Sh3glb1 |
T |
C |
3: 144,418,431 (GRCm39) |
N44S |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,867,589 (GRCm39) |
|
probably null |
Het |
| Slc4a9 |
A |
G |
18: 36,662,386 (GRCm39) |
|
probably null |
Het |
| Slc4a9 |
A |
T |
18: 36,664,560 (GRCm39) |
D406V |
probably damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,715,511 (GRCm39) |
G841R |
probably damaging |
Het |
| Smn1 |
C |
T |
13: 100,263,412 (GRCm39) |
P60L |
probably benign |
Het |
| Snai1 |
G |
A |
2: 167,383,930 (GRCm39) |
C241Y |
probably damaging |
Het |
| Spock3 |
A |
G |
8: 63,808,336 (GRCm39) |
D411G |
unknown |
Het |
| Szt2 |
T |
A |
4: 118,248,700 (GRCm39) |
T607S |
probably benign |
Het |
| Tcap |
A |
T |
11: 98,274,673 (GRCm39) |
M1L |
probably benign |
Het |
| Tex29 |
A |
T |
8: 11,905,723 (GRCm39) |
|
probably benign |
Het |
| Tex29 |
C |
A |
8: 11,904,276 (GRCm39) |
|
probably benign |
Het |
| Tex29 |
C |
T |
8: 11,904,277 (GRCm39) |
|
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,269,999 (GRCm39) |
T467A |
probably benign |
Het |
| Trim34a |
C |
T |
7: 103,910,328 (GRCm39) |
Q377* |
probably null |
Het |
| Ube2q1 |
T |
A |
3: 89,683,487 (GRCm39) |
L144* |
probably null |
Het |
| Vps13c |
A |
G |
9: 67,841,729 (GRCm39) |
E1917G |
probably benign |
Het |
| Wdr3 |
A |
T |
3: 100,051,807 (GRCm39) |
|
probably benign |
Het |
| Wnt5b |
T |
A |
6: 119,425,199 (GRCm39) |
H6L |
probably benign |
Het |
| Yju2 |
A |
G |
17: 56,269,077 (GRCm39) |
T62A |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,345,685 (GRCm39) |
S1355P |
possibly damaging |
Het |
| Zfp11 |
T |
A |
5: 129,734,976 (GRCm39) |
I162F |
probably damaging |
Het |
| Zpbp |
T |
C |
11: 11,365,332 (GRCm39) |
T172A |
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 |
|
|
R5837:Wdr19
|
UTSW |
5 |
65,360,300 (GRCm39) |
missense |
probably benign |
0.08 |
|
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'- GCCTCTTCCTTTACCAAGAGTAATATG -3'
(R):5'- CCTTGAACATCTTGAGGCTTTG -3'
Sequencing Primer
(F):5'- GTGGAAAGTCAGTGTTTTCTTAACC -3'
(R):5'- GTTTTGTTTCCTAGCACTGAGC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation