Incidental Mutation 'IGL01382:Wdr18'
| ID |
78892 |
| 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: 0.964)
|
| Stock # |
IGL01382
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79795989-79805081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79801106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 173
(L173P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045247]
|
| AlphaFold |
Q4VBE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045247
AA Change: L173P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041049
Gene: ENSMUSG00000035754
AA Change: L173P
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
T |
5: 142,458,006 (GRCm39) |
R393L |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,860,511 (GRCm39) |
P1128T |
probably damaging |
Het |
| Atp12a |
T |
G |
14: 56,617,412 (GRCm39) |
C567W |
probably damaging |
Het |
| Bcat2 |
C |
A |
7: 45,237,684 (GRCm39) |
R312S |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,356,684 (GRCm39) |
T151S |
probably damaging |
Het |
| Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,784,925 (GRCm39) |
D272G |
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,095,733 (GRCm39) |
S596P |
probably damaging |
Het |
| Ephx4 |
A |
G |
5: 107,577,585 (GRCm39) |
E303G |
probably damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Gm9843 |
A |
T |
16: 76,200,460 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1l |
T |
C |
16: 18,362,950 (GRCm39) |
F11S |
probably damaging |
Het |
| Ipmk |
C |
T |
10: 71,212,596 (GRCm39) |
T186M |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,086,380 (GRCm39) |
T381A |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,099,211 (GRCm39) |
I163K |
probably damaging |
Het |
| Kif18a |
T |
A |
2: 109,127,111 (GRCm39) |
Y348* |
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,389,581 (GRCm39) |
D1948V |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,864 (GRCm39) |
I83T |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,192,799 (GRCm39) |
E1530V |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,364 (GRCm39) |
E720K |
possibly damaging |
Het |
| Ncor2 |
T |
A |
5: 125,132,837 (GRCm39) |
Q50L |
probably damaging |
Het |
| Or5p70 |
G |
A |
7: 107,994,452 (GRCm39) |
V42M |
probably benign |
Het |
| Or9s15 |
A |
G |
1: 92,524,922 (GRCm39) |
Y227C |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,937,488 (GRCm39) |
M1575K |
probably damaging |
Het |
| Ptprg |
T |
G |
14: 12,237,797 (GRCm38) |
M643R |
probably benign |
Het |
| Reck |
T |
A |
4: 43,940,662 (GRCm39) |
C824S |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,382,934 (GRCm39) |
T689I |
possibly damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,072,161 (GRCm39) |
S358T |
probably benign |
Het |
| Sec14l3 |
G |
T |
11: 4,018,104 (GRCm39) |
C128F |
probably damaging |
Het |
| Serpinf2 |
C |
T |
11: 75,328,863 (GRCm39) |
|
probably benign |
Het |
| Sez6l |
C |
T |
5: 112,573,487 (GRCm39) |
V842I |
probably benign |
Het |
| Tm6sf2 |
A |
G |
8: 70,531,018 (GRCm39) |
Y257C |
probably damaging |
Het |
| Tmpo |
T |
C |
10: 91,001,912 (GRCm39) |
D99G |
probably damaging |
Het |
| Tulp3 |
A |
C |
6: 128,302,033 (GRCm39) |
N329K |
probably damaging |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,708 (GRCm39) |
D184V |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,763,938 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,533,578 (GRCm39) |
L494* |
probably null |
Het |
| Zfp663 |
T |
A |
2: 165,200,935 (GRCm39) |
Y33F |
probably damaging |
Het |
| Zmiz2 |
T |
A |
11: 6,353,781 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Wdr18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02812:Wdr18
|
APN |
10 |
79,796,898 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02949:Wdr18
|
APN |
10 |
79,800,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-11-05 |
Incidental Mutation