Incidental Mutation 'IGL01443:Grwd1'
| ID |
84337 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Grwd1
|
| Ensembl Gene |
ENSMUSG00000053801 |
| Gene Name |
glutamate-rich WD repeat containing 1 |
| Synonyms |
WDR28 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
IGL01443
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45474647-45480368 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to T
at 45479834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002848]
[ENSMUST00000107723]
[ENSMUST00000107723]
[ENSMUST00000107723]
[ENSMUST00000131384]
[ENSMUST00000131384]
[ENSMUST00000131384]
[ENSMUST00000209484]
[ENSMUST00000211265]
[ENSMUST00000211713]
|
| AlphaFold |
Q810D6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002848
|
| SMART Domains |
Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
73 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
89 |
330 |
1.7e-12 |
PFAM |
|
PBPe
|
428 |
823 |
4.11e-65 |
SMART |
|
Lig_chan-Glu_bd
|
471 |
527 |
7.88e-18 |
SMART |
|
transmembrane domain
|
843 |
862 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
931 |
N/A |
INTRINSIC |
|
low complexity region
|
932 |
943 |
N/A |
INTRINSIC |
|
low complexity region
|
969 |
1001 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1039 |
N/A |
INTRINSIC |
|
low complexity region
|
1065 |
1091 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1120 |
N/A |
INTRINSIC |
|
low complexity region
|
1192 |
1247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107723
|
| SMART Domains |
Protein: ENSMUSP00000103351
Gene: ENSMUSG00000053801
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1C_H4-bd
|
42 |
113 |
8.6e-18 |
PFAM |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
Blast:WD40
|
138 |
179 |
1e-18 |
BLAST |
|
WD40
|
203 |
243 |
1.58e-2 |
SMART |
|
WD40
|
249 |
290 |
5.47e-6 |
SMART |
|
WD40
|
297 |
336 |
2.22e-6 |
SMART |
|
WD40
|
342 |
382 |
2.59e-7 |
SMART |
|
Blast:WD40
|
404 |
442 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107723
|
| SMART Domains |
Protein: ENSMUSP00000103351
Gene: ENSMUSG00000053801
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1C_H4-bd
|
42 |
113 |
8.6e-18 |
PFAM |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
Blast:WD40
|
138 |
179 |
1e-18 |
BLAST |
|
WD40
|
203 |
243 |
1.58e-2 |
SMART |
|
WD40
|
249 |
290 |
5.47e-6 |
SMART |
|
WD40
|
297 |
336 |
2.22e-6 |
SMART |
|
WD40
|
342 |
382 |
2.59e-7 |
SMART |
|
Blast:WD40
|
404 |
442 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107723
|
| SMART Domains |
Protein: ENSMUSP00000103351
Gene: ENSMUSG00000053801
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1C_H4-bd
|
42 |
113 |
8.6e-18 |
PFAM |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
Blast:WD40
|
138 |
179 |
1e-18 |
BLAST |
|
WD40
|
203 |
243 |
1.58e-2 |
SMART |
|
WD40
|
249 |
290 |
5.47e-6 |
SMART |
|
WD40
|
297 |
336 |
2.22e-6 |
SMART |
|
WD40
|
342 |
382 |
2.59e-7 |
SMART |
|
Blast:WD40
|
404 |
442 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131384
|
| SMART Domains |
Protein: ENSMUSP00000116252
Gene: ENSMUSG00000053801
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1C_H4-bd
|
44 |
112 |
2.7e-15 |
PFAM |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
Blast:WD40
|
138 |
179 |
1e-18 |
BLAST |
|
WD40
|
203 |
243 |
1.58e-2 |
SMART |
|
WD40
|
249 |
290 |
5.47e-6 |
SMART |
|
WD40
|
297 |
336 |
2.22e-6 |
SMART |
|
WD40
|
342 |
382 |
2.59e-7 |
SMART |
|
Blast:WD40
|
404 |
442 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131384
|
| SMART Domains |
Protein: ENSMUSP00000116252
Gene: ENSMUSG00000053801
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1C_H4-bd
|
44 |
112 |
2.7e-15 |
PFAM |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
Blast:WD40
|
138 |
179 |
1e-18 |
BLAST |
|
WD40
|
203 |
243 |
1.58e-2 |
SMART |
|
WD40
|
249 |
290 |
5.47e-6 |
SMART |
|
WD40
|
297 |
336 |
2.22e-6 |
SMART |
|
WD40
|
342 |
382 |
2.59e-7 |
SMART |
|
Blast:WD40
|
404 |
442 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131384
|
| SMART Domains |
Protein: ENSMUSP00000116252
Gene: ENSMUSG00000053801
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1C_H4-bd
|
44 |
112 |
2.7e-15 |
PFAM |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
Blast:WD40
|
138 |
179 |
1e-18 |
BLAST |
|
WD40
|
203 |
243 |
1.58e-2 |
SMART |
|
WD40
|
249 |
290 |
5.47e-6 |
SMART |
|
WD40
|
297 |
336 |
2.22e-6 |
SMART |
|
WD40
|
342 |
382 |
2.59e-7 |
SMART |
|
Blast:WD40
|
404 |
442 |
1e-18 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209301
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210177
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211265
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211713
|
| 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 glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [provided by RefSeq, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,694,690 (GRCm39) |
E1159G |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,613,134 (GRCm39) |
Y189C |
probably damaging |
Het |
| AW554918 |
G |
A |
18: 25,478,012 (GRCm39) |
G446R |
probably damaging |
Het |
| Baiap3 |
A |
G |
17: 25,464,121 (GRCm39) |
F884S |
possibly damaging |
Het |
| Cd101 |
T |
C |
3: 100,910,887 (GRCm39) |
T924A |
probably benign |
Het |
| Cdk12 |
T |
A |
11: 98,136,295 (GRCm39) |
V1183E |
unknown |
Het |
| Clcc1 |
T |
C |
3: 108,578,219 (GRCm39) |
M240T |
probably benign |
Het |
| Dnmbp |
C |
A |
19: 43,891,309 (GRCm39) |
A153S |
probably damaging |
Het |
| Dus4l |
T |
C |
12: 31,702,409 (GRCm39) |
|
probably benign |
Het |
| Dyrk1a |
A |
G |
16: 94,485,943 (GRCm39) |
E430G |
probably benign |
Het |
| Erc1 |
T |
C |
6: 119,801,432 (GRCm39) |
K195R |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,113,280 (GRCm39) |
E1470G |
probably damaging |
Het |
| Extl3 |
A |
T |
14: 65,314,919 (GRCm39) |
S88T |
probably damaging |
Het |
| Fam135b |
A |
T |
15: 71,335,213 (GRCm39) |
H660Q |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,493,613 (GRCm39) |
G3920S |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,666,741 (GRCm39) |
V144A |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,358,796 (GRCm39) |
T252A |
probably damaging |
Het |
| Igkv3-1 |
A |
G |
6: 70,681,088 (GRCm39) |
S96G |
possibly damaging |
Het |
| Igkv4-68 |
G |
T |
6: 69,281,921 (GRCm39) |
F83L |
probably damaging |
Het |
| Klhl31 |
T |
C |
9: 77,557,542 (GRCm39) |
V86A |
possibly damaging |
Het |
| Lypd3 |
G |
A |
7: 24,336,063 (GRCm39) |
G17R |
probably benign |
Het |
| Manba |
T |
A |
3: 135,250,589 (GRCm39) |
D405E |
probably damaging |
Het |
| Map3k19 |
A |
G |
1: 127,766,244 (GRCm39) |
S227P |
probably benign |
Het |
| Nras |
T |
A |
3: 102,969,751 (GRCm39) |
C118S |
probably benign |
Het |
| Or52n20 |
A |
G |
7: 104,320,278 (GRCm39) |
D123G |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,973,929 (GRCm39) |
F629L |
probably damaging |
Het |
| Phtf2 |
A |
G |
5: 20,987,265 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,017,429 (GRCm39) |
F109L |
probably benign |
Het |
| Plod3 |
G |
A |
5: 137,019,075 (GRCm39) |
R320H |
probably benign |
Het |
| Ppib |
T |
C |
9: 65,972,879 (GRCm39) |
F152L |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,281,503 (GRCm39) |
|
probably benign |
Het |
| Rgs12 |
T |
A |
5: 35,132,563 (GRCm39) |
S628R |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,199,251 (GRCm39) |
D201G |
probably damaging |
Het |
| Speer4c2 |
A |
G |
5: 15,857,642 (GRCm39) |
*212Q |
probably null |
Het |
| St14 |
G |
T |
9: 31,011,489 (GRCm39) |
S434* |
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,966,560 (GRCm39) |
D387G |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,838,861 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,544,215 (GRCm39) |
R32924C |
probably damaging |
Het |
| Vmn1r181 |
T |
C |
7: 23,684,006 (GRCm39) |
V157A |
possibly damaging |
Het |
| Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
probably damaging |
Het |
|
| Other mutations in Grwd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00715:Grwd1
|
APN |
7 |
45,480,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01459:Grwd1
|
APN |
7 |
45,479,834 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02139:Grwd1
|
APN |
7 |
45,476,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03009:Grwd1
|
APN |
7 |
45,476,561 (GRCm39) |
splice site |
probably benign |
|
|
R0178:Grwd1
|
UTSW |
7 |
45,480,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0334:Grwd1
|
UTSW |
7 |
45,476,601 (GRCm39) |
splice site |
probably null |
|
|
R4392:Grwd1
|
UTSW |
7 |
45,477,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Grwd1
|
UTSW |
7 |
45,475,298 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5146:Grwd1
|
UTSW |
7 |
45,477,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5378:Grwd1
|
UTSW |
7 |
45,479,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5554:Grwd1
|
UTSW |
7 |
45,480,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Grwd1
|
UTSW |
7 |
45,480,204 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R7790:Grwd1
|
UTSW |
7 |
45,475,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8377:Grwd1
|
UTSW |
7 |
45,480,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Grwd1
|
UTSW |
7 |
45,475,298 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8929:Grwd1
|
UTSW |
7 |
45,480,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9261:Grwd1
|
UTSW |
7 |
45,475,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9640:Grwd1
|
UTSW |
7 |
45,477,303 (GRCm39) |
missense |
probably benign |
|
|
R9681:Grwd1
|
UTSW |
7 |
45,479,473 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2013-11-11 |
Incidental Mutation