Incidental Mutation 'IGL01459:Grwd1'
| ID |
278492 |
| 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: 0.953)
|
| Stock # |
IGL01459
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2a2 |
A |
G |
5: 122,607,715 (GRCm39) |
S265P |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,848,620 (GRCm39) |
F520L |
probably damaging |
Het |
| Cdh5 |
A |
T |
8: 104,864,449 (GRCm39) |
D470V |
probably damaging |
Het |
| Cdr2l |
A |
G |
11: 115,281,378 (GRCm39) |
R41G |
probably damaging |
Het |
| Csrnp1 |
C |
T |
9: 119,802,024 (GRCm39) |
C345Y |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,653,981 (GRCm39) |
Y1419* |
probably null |
Het |
| Entpd3 |
T |
C |
9: 120,391,007 (GRCm39) |
S420P |
probably damaging |
Het |
| Epb41 |
A |
G |
4: 131,691,439 (GRCm39) |
|
probably benign |
Het |
| Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
| Fndc3b |
T |
A |
3: 27,515,889 (GRCm39) |
H639L |
probably benign |
Het |
| Kbtbd8 |
A |
G |
6: 95,099,789 (GRCm39) |
N356D |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,804,820 (GRCm39) |
E189G |
probably damaging |
Het |
| Kif2b |
T |
C |
11: 91,467,849 (GRCm39) |
K145E |
possibly damaging |
Het |
| Kif5c |
A |
G |
2: 49,625,569 (GRCm39) |
D613G |
probably benign |
Het |
| Lipe |
T |
G |
7: 25,082,967 (GRCm39) |
Q457P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,750,726 (GRCm39) |
I2946N |
probably damaging |
Het |
| Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,066,804 (GRCm39) |
S5886P |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,506,196 (GRCm39) |
|
probably null |
Het |
| Nup153 |
T |
C |
13: 46,866,402 (GRCm39) |
E214G |
possibly damaging |
Het |
| Or14c44 |
A |
C |
7: 86,061,759 (GRCm39) |
N104T |
probably damaging |
Het |
| Or6c66b |
G |
A |
10: 129,376,410 (GRCm39) |
M1I |
probably null |
Het |
| Paqr3 |
T |
C |
5: 97,243,796 (GRCm39) |
D306G |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,446,878 (GRCm39) |
D796G |
probably benign |
Het |
| Prkra |
A |
G |
2: 76,460,780 (GRCm39) |
L306S |
probably damaging |
Het |
| Psg20 |
T |
A |
7: 18,416,638 (GRCm39) |
E159D |
probably damaging |
Het |
| Ptchd3 |
G |
T |
11: 121,721,246 (GRCm39) |
V40L |
probably benign |
Het |
| Rfx5 |
T |
C |
3: 94,865,086 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,865,275 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
C |
A |
11: 53,877,303 (GRCm39) |
|
probably null |
Het |
| Tars1 |
A |
G |
15: 11,391,940 (GRCm39) |
V265A |
possibly damaging |
Het |
| Tatdn2 |
T |
A |
6: 113,686,992 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
C |
T |
7: 96,378,592 (GRCm39) |
P399L |
probably damaging |
Het |
| Tmem135 |
A |
T |
7: 88,800,646 (GRCm39) |
D325E |
probably damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,483,706 (GRCm39) |
I556N |
probably benign |
Het |
| Tom1l2 |
C |
T |
11: 60,171,095 (GRCm39) |
G23S |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,241,435 (GRCm39) |
|
probably benign |
Het |
| Vmn1r197 |
T |
C |
13: 22,512,241 (GRCm39) |
I54T |
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,603,903 (GRCm39) |
C43R |
probably damaging |
Het |
| Vps33a |
A |
G |
5: 123,673,371 (GRCm39) |
L405P |
probably benign |
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 |
|
IGL01443: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 |
2015-04-16 |
Incidental Mutation