Incidental Mutation 'IGL00715:Grwd1'
| ID |
11154 |
| 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 # |
IGL00715
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45474647-45480368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45480037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 57
(Y57H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002848]
[ENSMUST00000107723]
[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 |
possibly damaging
Transcript: ENSMUST00000107723
AA Change: Y57H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103351
Gene: ENSMUSG00000053801
AA Change: Y57H
| 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 |
possibly damaging
Transcript: ENSMUST00000131384
AA Change: Y57H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116252
Gene: ENSMUSG00000053801
AA Change: Y57H
| 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 damaging
Transcript: ENSMUST00000209484
AA Change: Y57H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210177
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211265
AA Change: Y57H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
C |
T |
1: 125,322,813 (GRCm39) |
A385T |
probably damaging |
Het |
| Cdh17 |
A |
T |
4: 11,797,780 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
C |
T |
11: 101,074,031 (GRCm39) |
|
probably benign |
Het |
| Dhrs7 |
T |
A |
12: 72,699,164 (GRCm39) |
M296L |
probably damaging |
Het |
| Fmo2 |
T |
A |
1: 162,716,282 (GRCm39) |
K102* |
probably null |
Het |
| Foxn3 |
T |
C |
12: 99,162,866 (GRCm39) |
E345G |
possibly damaging |
Het |
| Gabrg1 |
A |
G |
5: 70,973,298 (GRCm39) |
|
probably null |
Het |
| Gp1ba |
A |
C |
11: 70,530,744 (GRCm39) |
|
probably benign |
Het |
| Hars2 |
G |
A |
18: 36,918,989 (GRCm39) |
C83Y |
probably damaging |
Het |
| Il5ra |
C |
T |
6: 106,689,435 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,302,603 (GRCm39) |
V87A |
probably benign |
Het |
| Lrig2 |
A |
G |
3: 104,371,264 (GRCm39) |
V455A |
probably damaging |
Het |
| P2ry10 |
T |
A |
X: 106,146,189 (GRCm39) |
S41R |
probably damaging |
Het |
| Plcb2 |
C |
T |
2: 118,544,215 (GRCm39) |
|
probably null |
Het |
| Plod2 |
G |
A |
9: 92,480,667 (GRCm39) |
R420H |
probably damaging |
Het |
| Prkcd |
T |
C |
14: 30,317,960 (GRCm39) |
N656S |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,115,495 (GRCm39) |
F42S |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,841,457 (GRCm39) |
I786T |
probably damaging |
Het |
| Slc5a11 |
C |
T |
7: 122,849,397 (GRCm39) |
A194V |
probably null |
Het |
| Spo11 |
T |
C |
2: 172,830,825 (GRCm39) |
|
probably null |
Het |
| Trap1a |
A |
G |
X: 138,234,983 (GRCm39) |
D94G |
unknown |
Het |
| Urb1 |
A |
G |
16: 90,550,209 (GRCm39) |
|
probably null |
Het |
| Usp1 |
T |
C |
4: 98,822,818 (GRCm39) |
|
probably null |
Het |
| Zfp300 |
T |
C |
X: 20,950,493 (GRCm39) |
D34G |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,494,137 (GRCm39) |
E302G |
possibly damaging |
Het |
|
| Other mutations in Grwd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation