Incidental Mutation 'IGL02949:Wdr18'
| ID |
364893 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr18
|
| Ensembl Gene |
ENSMUSG00000035754 |
| Gene Name |
WD repeat domain 18 |
| Synonyms |
2310012I10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL02949
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79795989-79805081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79800889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 151
(C151S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045247]
|
| AlphaFold |
Q4VBE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045247
AA Change: C151S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041049
Gene: ENSMUSG00000035754
AA Change: C151S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
27 |
66 |
3e-17 |
BLAST |
|
WD40
|
70 |
107 |
1.48e1 |
SMART |
|
WD40
|
110 |
149 |
1.24e-4 |
SMART |
|
WD40
|
161 |
202 |
2.49e-1 |
SMART |
|
WD40
|
205 |
243 |
2.05e1 |
SMART |
|
WD40
|
258 |
297 |
2.32e-9 |
SMART |
|
low complexity region
|
353 |
367 |
N/A |
INTRINSIC |
|
Pfam:WD40_alt
|
383 |
429 |
4.3e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220249
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220272
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(8) : Targeted(1) Gene trapped(7)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
A |
4: 144,344,490 (GRCm39) |
V89I |
probably damaging |
Het |
| Abhd5 |
T |
C |
9: 122,206,980 (GRCm39) |
F89L |
possibly damaging |
Het |
| Akr1c13 |
T |
A |
13: 4,248,593 (GRCm39) |
V266E |
probably damaging |
Het |
| B4galt2 |
C |
T |
4: 117,738,602 (GRCm39) |
A72T |
probably benign |
Het |
| Ccdc141 |
T |
C |
2: 76,857,938 (GRCm39) |
Y1081C |
probably damaging |
Het |
| Coq8b |
T |
C |
7: 26,956,038 (GRCm39) |
V405A |
possibly damaging |
Het |
| Ddah2 |
A |
G |
17: 35,280,776 (GRCm39) |
K251E |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,272,331 (GRCm39) |
V1045A |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,332,476 (GRCm39) |
M662K |
probably benign |
Het |
| Dpys |
A |
G |
15: 39,690,279 (GRCm39) |
V358A |
probably damaging |
Het |
| H2-D1 |
A |
G |
17: 35,483,064 (GRCm39) |
N198S |
probably benign |
Het |
| Hnrnpa1 |
T |
C |
15: 103,150,538 (GRCm39) |
V163A |
probably damaging |
Het |
| Hr |
C |
T |
14: 70,797,225 (GRCm39) |
R543C |
possibly damaging |
Het |
| Lct |
C |
T |
1: 128,240,869 (GRCm39) |
V245M |
probably benign |
Het |
| Lpl |
G |
A |
8: 69,345,400 (GRCm39) |
V135M |
probably damaging |
Het |
| Mblac1 |
T |
A |
5: 138,193,119 (GRCm39) |
C154S |
probably benign |
Het |
| Mmp9 |
T |
C |
2: 164,793,039 (GRCm39) |
F396S |
probably damaging |
Het |
| Mroh1 |
A |
T |
15: 76,293,168 (GRCm39) |
H314L |
probably damaging |
Het |
| Msantd4 |
T |
A |
9: 4,385,196 (GRCm39) |
L307Q |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,815,878 (GRCm39) |
D662G |
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,109,837 (GRCm39) |
S1648N |
probably damaging |
Het |
| Or52a20 |
A |
G |
7: 103,366,427 (GRCm39) |
I209V |
probably benign |
Het |
| Plcb2 |
C |
T |
2: 118,549,590 (GRCm39) |
|
probably null |
Het |
| Scyl2 |
T |
A |
10: 89,496,163 (GRCm39) |
N229I |
possibly damaging |
Het |
| Spryd3 |
C |
T |
15: 102,026,544 (GRCm39) |
E376K |
probably benign |
Het |
| Srr |
T |
G |
11: 74,799,563 (GRCm39) |
E304A |
probably benign |
Het |
| Srsf1 |
A |
G |
11: 87,940,352 (GRCm39) |
|
probably benign |
Het |
| Txnrd2 |
T |
G |
16: 18,296,456 (GRCm39) |
S473A |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,874,848 (GRCm39) |
T351I |
probably damaging |
Het |
|
| Other mutations in Wdr18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01382:Wdr18
|
APN |
10 |
79,801,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Wdr18
|
APN |
10 |
79,796,898 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0066:Wdr18
|
UTSW |
10 |
79,796,937 (GRCm39) |
nonsense |
probably null |
|
|
R0066:Wdr18
|
UTSW |
10 |
79,796,937 (GRCm39) |
nonsense |
probably null |
|
|
R0244:Wdr18
|
UTSW |
10 |
79,802,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0257:Wdr18
|
UTSW |
10 |
79,796,953 (GRCm39) |
splice site |
probably benign |
|
|
R0377:Wdr18
|
UTSW |
10 |
79,803,336 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1844:Wdr18
|
UTSW |
10 |
79,802,561 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4179:Wdr18
|
UTSW |
10 |
79,800,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Wdr18
|
UTSW |
10 |
79,801,069 (GRCm39) |
missense |
probably benign |
|
|
R5573:Wdr18
|
UTSW |
10 |
79,800,872 (GRCm39) |
missense |
probably benign |
|
|
R6007:Wdr18
|
UTSW |
10 |
79,801,177 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6455:Wdr18
|
UTSW |
10 |
79,801,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7042:Wdr18
|
UTSW |
10 |
79,801,944 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7223:Wdr18
|
UTSW |
10 |
79,796,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Wdr18
|
UTSW |
10 |
79,801,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7777:Wdr18
|
UTSW |
10 |
79,801,884 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9117:Wdr18
|
UTSW |
10 |
79,801,154 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-12-18 |
Incidental Mutation