Incidental Mutation 'IGL03009:Grwd1'
| ID |
407713 |
| 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 # |
IGL03009
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45474647-45480368 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 45476561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002848]
[ENSMUST00000071937]
[ENSMUST00000107723]
[ENSMUST00000131384]
[ENSMUST00000209484]
[ENSMUST00000211265]
[ENSMUST00000210232]
|
| 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 benign
Transcript: ENSMUST00000071937
|
| SMART Domains |
Protein: ENSMUSP00000071829
Gene: ENSMUSG00000058743
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
51 |
377 |
1.1e-146 |
PFAM |
|
low complexity region
|
399 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 benign
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 |
probably benign
Transcript: ENSMUST00000211265
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210232
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
C |
A |
15: 80,836,444 (GRCm39) |
S67* |
probably null |
Het |
| Arrdc4 |
A |
G |
7: 68,389,241 (GRCm39) |
V411A |
probably damaging |
Het |
| Cnnm2 |
A |
G |
19: 46,865,794 (GRCm39) |
Y794C |
probably damaging |
Het |
| Flt4 |
G |
T |
11: 49,517,951 (GRCm39) |
K330N |
probably benign |
Het |
| Foxs1 |
T |
C |
2: 152,774,849 (GRCm39) |
H68R |
probably damaging |
Het |
| Gm21969 |
C |
T |
4: 139,334,965 (GRCm39) |
S333L |
probably damaging |
Het |
| Gm7008 |
T |
A |
12: 40,273,546 (GRCm39) |
|
probably benign |
Het |
| Gmppa |
A |
G |
1: 75,416,014 (GRCm39) |
Y137C |
probably damaging |
Het |
| Kdm5a |
C |
T |
6: 120,407,047 (GRCm39) |
R1421W |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,894,039 (GRCm39) |
T1749A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,069,468 (GRCm39) |
|
probably benign |
Het |
| Ntng1 |
T |
C |
3: 109,842,018 (GRCm39) |
K252E |
possibly damaging |
Het |
| Nup133 |
A |
G |
8: 124,660,239 (GRCm39) |
I353T |
possibly damaging |
Het |
| Or51ab3 |
C |
A |
7: 103,201,734 (GRCm39) |
C247* |
probably null |
Het |
| Osbpl11 |
T |
C |
16: 33,062,100 (GRCm39) |
|
probably benign |
Het |
| Pcsk9 |
C |
T |
4: 106,311,542 (GRCm39) |
G230S |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,967,988 (GRCm39) |
N1127S |
probably damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,873,756 (GRCm39) |
K688N |
possibly damaging |
Het |
| Rhot1 |
A |
G |
11: 80,111,080 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
T |
15: 39,430,393 (GRCm39) |
Q1159L |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 52,022,003 (GRCm39) |
I594V |
probably benign |
Het |
| Slc43a2 |
G |
A |
11: 75,463,202 (GRCm39) |
C536Y |
probably benign |
Het |
| Stip1 |
A |
T |
19: 6,998,489 (GRCm39) |
V537E |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Vav1 |
A |
T |
17: 57,603,582 (GRCm39) |
T94S |
probably benign |
Het |
| Zfr |
A |
T |
15: 12,162,321 (GRCm39) |
I824F |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation