Incidental Mutation 'R5146:Grwd1'
ID |
395114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grwd1
|
Ensembl Gene |
ENSMUSG00000053801 |
Gene Name |
glutamate-rich WD repeat containing 1 |
Synonyms |
WDR28 |
MMRRC Submission |
042730-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.951)
|
Stock # |
R5146 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45474647-45480368 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45477258 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 210
(F210I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116252
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002848]
[ENSMUST00000071937]
[ENSMUST00000107723]
[ENSMUST00000131384]
[ENSMUST00000209484]
[ENSMUST00000211713]
[ENSMUST00000210232]
[ENSMUST00000211265]
|
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 damaging
Transcript: ENSMUST00000107723
AA Change: F210I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103351 Gene: ENSMUSG00000053801 AA Change: F210I
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 damaging
Transcript: ENSMUST00000131384
AA Change: F210I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116252 Gene: ENSMUSG00000053801 AA Change: F210I
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: ENSMUST00000211713
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210232
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211265
|
Meta Mutation Damage Score |
0.5173 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
97% (35/36) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,289,799 (GRCm39) |
D1498G |
possibly damaging |
Het |
Adcyap1r1 |
A |
G |
6: 55,461,957 (GRCm39) |
I329V |
probably benign |
Het |
Ahnak2 |
A |
C |
12: 112,742,160 (GRCm39) |
H637Q |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,734,636 (GRCm39) |
D455G |
probably benign |
Het |
Cdh20 |
A |
G |
1: 109,922,042 (GRCm39) |
T45A |
probably damaging |
Het |
Chil4 |
T |
A |
3: 106,110,150 (GRCm39) |
T315S |
probably benign |
Het |
Cntnap5c |
T |
C |
17: 58,320,842 (GRCm39) |
V138A |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,246,204 (GRCm39) |
D1065G |
probably damaging |
Het |
Cspp1 |
C |
T |
1: 10,145,101 (GRCm39) |
R296* |
probably null |
Het |
Dnah17 |
A |
G |
11: 118,005,005 (GRCm39) |
M793T |
probably damaging |
Het |
Dock4 |
A |
G |
12: 40,699,491 (GRCm39) |
|
probably null |
Het |
Fgfr4 |
G |
T |
13: 55,313,725 (GRCm39) |
L511F |
probably damaging |
Het |
Gm14415 |
T |
C |
2: 176,796,024 (GRCm39) |
|
noncoding transcript |
Het |
Gpam |
A |
G |
19: 55,082,378 (GRCm39) |
V91A |
probably damaging |
Het |
Grin2b |
T |
A |
6: 135,756,340 (GRCm39) |
I462F |
probably damaging |
Het |
H2-T9 |
A |
G |
17: 36,439,907 (GRCm39) |
W76R |
probably damaging |
Het |
Itfg1 |
T |
C |
8: 86,445,497 (GRCm39) |
*611W |
probably null |
Het |
Kcna2 |
T |
C |
3: 107,012,814 (GRCm39) |
V465A |
probably benign |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Myo15b |
A |
G |
11: 115,782,024 (GRCm39) |
T1444A |
probably benign |
Het |
Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
Oas1c |
A |
G |
5: 120,940,159 (GRCm39) |
S336P |
probably benign |
Het |
Pirb |
T |
C |
7: 3,715,620 (GRCm39) |
|
probably benign |
Het |
Pot1b |
A |
T |
17: 55,979,865 (GRCm39) |
Y330* |
probably null |
Het |
Rnf20 |
A |
T |
4: 49,651,456 (GRCm39) |
M641L |
probably benign |
Het |
Sppl2b |
T |
C |
10: 80,703,474 (GRCm39) |
*579Q |
probably null |
Het |
Sumf1 |
G |
A |
6: 108,162,271 (GRCm39) |
P83S |
probably benign |
Het |
Tmem101 |
C |
T |
11: 102,045,450 (GRCm39) |
R133Q |
probably benign |
Het |
Ttn |
G |
A |
2: 76,700,707 (GRCm39) |
|
probably benign |
Het |
Vmn2r84 |
A |
G |
10: 130,221,971 (GRCm39) |
Y750H |
probably damaging |
Het |
Zfp873 |
A |
G |
10: 81,896,058 (GRCm39) |
Y300C |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACAGTCACCAGTCAGCAAG -3'
(R):5'- GGTCTATTGTCTAACCTTAGGCC -3'
Sequencing Primer
(F):5'- AGTCAGCAAGCGGCCTAGAC -3'
(R):5'- GTTTTGTGTACCCCTCTGGCAG -3'
|
Posted On |
2016-06-21 |