Incidental Mutation 'R7972:Wdr19'
| ID |
650652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr19
|
| Ensembl Gene |
ENSMUSG00000037890 |
| Gene Name |
WD repeat domain 19 |
| Synonyms |
D330023L08Rik, DYF2, C330027H04Rik, Ift144 |
| MMRRC Submission |
046015-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7972 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65357039-65417758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65381193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 406
(N406D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041892]
[ENSMUST00000203653]
|
| AlphaFold |
Q3UGF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041892
AA Change: N406D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: N406D
| 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 |
probably damaging
Transcript: ENSMUST00000203653
AA Change: N406D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: N406D
| 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 |
|
| Meta Mutation Damage Score |
0.5394 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (48/49) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,320,287 (GRCm39) |
V384E |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,364,918 (GRCm39) |
R1533* |
probably null |
Het |
| Alox12 |
T |
A |
11: 70,133,513 (GRCm39) |
M604L |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Brdt |
A |
T |
5: 107,496,415 (GRCm39) |
I176F |
possibly damaging |
Het |
| Cdk5 |
G |
T |
5: 24,624,656 (GRCm39) |
T245K |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,732,395 (GRCm39) |
R1304S |
unknown |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,185,871 (GRCm39) |
E438V |
probably damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,803,949 (GRCm39) |
V92A |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fam184a |
A |
T |
10: 53,514,355 (GRCm39) |
L1022Q |
probably damaging |
Het |
| Foxd4 |
T |
C |
19: 24,877,594 (GRCm39) |
H202R |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,233,861 (GRCm39) |
V16A |
probably benign |
Het |
| Gstcd |
A |
T |
3: 132,777,894 (GRCm39) |
F306I |
probably benign |
Het |
| H2bc13 |
A |
G |
13: 21,899,977 (GRCm39) |
S113P |
possibly damaging |
Het |
| Hivep3 |
T |
C |
4: 119,954,711 (GRCm39) |
V1009A |
possibly damaging |
Het |
| Hoxd12 |
G |
T |
2: 74,506,269 (GRCm39) |
R227L |
probably damaging |
Het |
| Ifi208 |
T |
A |
1: 173,506,556 (GRCm39) |
M113K |
possibly damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,810,802 (GRCm39) |
M427K |
probably damaging |
Het |
| Kcnh4 |
T |
G |
11: 100,643,278 (GRCm39) |
T330P |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lin28a |
G |
A |
4: 133,733,574 (GRCm39) |
P158S |
probably damaging |
Het |
| Muc16 |
C |
A |
9: 18,557,060 (GRCm39) |
E3078* |
probably null |
Het |
| Naaladl1 |
A |
G |
19: 6,156,274 (GRCm39) |
N120S |
probably damaging |
Het |
| Nol10 |
G |
A |
12: 17,402,648 (GRCm39) |
R40H |
probably benign |
Het |
| Ntng1 |
G |
A |
3: 110,042,802 (GRCm39) |
S8L |
probably benign |
Het |
| Or4a71 |
T |
G |
2: 89,357,948 (GRCm39) |
I269L |
probably benign |
Het |
| Or4c107 |
T |
A |
2: 88,789,177 (GRCm39) |
Y122* |
probably null |
Het |
| Pacsin1 |
T |
A |
17: 27,927,613 (GRCm39) |
F319I |
unknown |
Het |
| Pla2g4d |
G |
A |
2: 120,109,413 (GRCm39) |
T212I |
probably benign |
Het |
| Ppp4r1 |
T |
A |
17: 66,140,093 (GRCm39) |
C664S |
possibly damaging |
Het |
| Prodh2 |
T |
C |
7: 30,210,580 (GRCm39) |
I377T |
probably damaging |
Het |
| Prss57 |
A |
T |
10: 79,619,230 (GRCm39) |
L243H |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Ros1 |
G |
A |
10: 52,030,926 (GRCm39) |
R581* |
probably null |
Het |
| Rps6kc1 |
C |
T |
1: 190,531,321 (GRCm39) |
G894S |
probably benign |
Het |
| Sirt7 |
A |
G |
11: 120,510,016 (GRCm39) |
S183P |
unknown |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Styxl2 |
T |
A |
1: 165,926,708 (GRCm39) |
E968V |
probably damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,431,250 (GRCm39) |
F374S |
probably damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,837,134 (GRCm39) |
D489E |
probably damaging |
Het |
| Tiprl |
T |
A |
1: 165,064,543 (GRCm39) |
|
probably benign |
Het |
| Tpt1 |
T |
C |
14: 76,085,539 (GRCm39) |
*173Q |
probably null |
Het |
| Trim17 |
A |
G |
11: 58,859,394 (GRCm39) |
I203V |
probably benign |
Het |
| Trim43b |
T |
A |
9: 88,973,361 (GRCm39) |
H124L |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,852,186 (GRCm39) |
I780T |
probably damaging |
Het |
| Tyrobp |
G |
A |
7: 30,114,063 (GRCm39) |
G101R |
|
Het |
| Vmn1r181 |
A |
T |
7: 23,683,871 (GRCm39) |
H112L |
probably benign |
Het |
| Zc3h12a |
T |
C |
4: 125,013,728 (GRCm39) |
K379E |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,799,323 (GRCm39) |
I230T |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,477,533 (GRCm39) |
T3383A |
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 |
|
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 |
|
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'- GTGGCCAACCTCATTGAAGG -3'
(R):5'- CCACACTCTGTCTAGAAGTCATG -3'
Sequencing Primer
(F):5'- CCAACCTCATTGAAGGAGTAAGTG -3'
(R):5'- ACACTCTGTCTAGAAGTCATGTAAAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation