Incidental Mutation 'R2398:Grsf1'
| ID |
248592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grsf1
|
| Ensembl Gene |
ENSMUSG00000044221 |
| Gene Name |
G-rich RNA sequence binding factor 1 |
| Synonyms |
D5Wsu31e |
| MMRRC Submission |
040365-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2398 (G1)
|
| Quality Score |
206 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
88807307-88824030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88821695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 123
(T123I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078945]
[ENSMUST00000113234]
[ENSMUST00000133532]
[ENSMUST00000150438]
[ENSMUST00000153565]
|
| AlphaFold |
Q8C5Q4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078945
AA Change: T123I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077972
Gene: ENSMUSG00000044221
AA Change: T123I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
RRM
|
150 |
224 |
1.65e-6 |
SMART |
|
RRM
|
250 |
321 |
1.79e-11 |
SMART |
|
RRM
|
401 |
471 |
1.54e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113234
AA Change: T6I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108860
Gene: ENSMUSG00000044221
AA Change: T6I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
22 |
N/A |
INTRINSIC |
|
RRM
|
33 |
107 |
1.65e-6 |
SMART |
|
RRM
|
133 |
204 |
1.79e-11 |
SMART |
|
RRM
|
284 |
354 |
1.54e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130408
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133532
|
| SMART Domains |
Protein: ENSMUSP00000114732
Gene: ENSMUSG00000044221
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM
|
1 |
26 |
6e-11 |
BLAST |
|
PDB:2LMI|A
|
1 |
46 |
3e-26 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137725
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150438
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153565
|
| SMART Domains |
Protein: ENSMUSP00000123051
Gene: ENSMUSG00000044221
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
2 |
33 |
5.45e-5 |
PROSPERO |
|
RRM
|
52 |
123 |
1.79e-11 |
SMART |
|
| Meta Mutation Damage Score |
0.0733 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,872 (GRCm39) |
D160G |
possibly damaging |
Het |
| Akr1c6 |
T |
C |
13: 4,499,035 (GRCm39) |
S208P |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,126,943 (GRCm39) |
F269S |
probably damaging |
Het |
| Ap3d1 |
G |
A |
10: 80,555,006 (GRCm39) |
Q440* |
probably null |
Het |
| Cog2 |
T |
C |
8: 125,256,665 (GRCm39) |
I137T |
probably benign |
Het |
| Cse1l |
A |
G |
2: 166,770,917 (GRCm39) |
Y369C |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,806,029 (GRCm39) |
N3357D |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,409,500 (GRCm39) |
T209A |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,339,123 (GRCm39) |
A392T |
probably benign |
Het |
| Gzmc |
T |
A |
14: 56,470,228 (GRCm39) |
I90F |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,928 (GRCm39) |
N42K |
probably damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,658,755 (GRCm39) |
M629V |
possibly damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,863 (GRCm39) |
D58G |
possibly damaging |
Het |
| Krtap4-8 |
T |
C |
11: 99,671,103 (GRCm39) |
|
probably benign |
Het |
| Mocs1 |
T |
C |
17: 49,759,862 (GRCm39) |
I381T |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,482,946 (GRCm39) |
T1408A |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,076 (GRCm39) |
F285S |
probably benign |
Het |
| Or8j3b |
T |
A |
2: 86,205,183 (GRCm39) |
D191V |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,459,166 (GRCm39) |
T445I |
possibly damaging |
Het |
| Pdik1l |
T |
C |
4: 134,005,710 (GRCm39) |
K411E |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,611,129 (GRCm39) |
I443V |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,478,222 (GRCm39) |
S536P |
possibly damaging |
Het |
| Rnf10 |
C |
T |
5: 115,385,332 (GRCm39) |
R554H |
probably benign |
Het |
| Smarcc2 |
C |
T |
10: 128,305,551 (GRCm39) |
T325I |
possibly damaging |
Het |
| Smchd1 |
C |
A |
17: 71,667,136 (GRCm39) |
C1752F |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,733,431 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,060,613 (GRCm39) |
|
probably null |
Het |
| Tex52 |
T |
C |
6: 128,356,540 (GRCm39) |
S78P |
probably damaging |
Het |
| Tmem63c |
T |
G |
12: 87,103,307 (GRCm39) |
V27G |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,549,250 (GRCm39) |
N148S |
possibly damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,921 (GRCm39) |
I695V |
probably damaging |
Het |
| Wipf2 |
T |
A |
11: 98,789,543 (GRCm39) |
|
probably null |
Het |
| Zc3h18 |
A |
G |
8: 123,140,605 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,089,013 (GRCm39) |
N947K |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,329,573 (GRCm39) |
|
probably null |
Het |
| Zic2 |
G |
T |
14: 122,716,329 (GRCm39) |
E422* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,816,929 (GRCm39) |
D4E |
probably damaging |
Het |
|
| Other mutations in Grsf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Grsf1
|
APN |
5 |
88,818,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01505:Grsf1
|
APN |
5 |
88,820,608 (GRCm39) |
nonsense |
probably null |
|
|
IGL02108:Grsf1
|
APN |
5 |
88,813,762 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02116:Grsf1
|
APN |
5 |
88,818,033 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02713:Grsf1
|
APN |
5 |
88,820,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02881:Grsf1
|
APN |
5 |
88,821,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0336:Grsf1
|
UTSW |
5 |
88,811,012 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1381:Grsf1
|
UTSW |
5 |
88,813,723 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1398:Grsf1
|
UTSW |
5 |
88,813,706 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2136:Grsf1
|
UTSW |
5 |
88,820,517 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4181:Grsf1
|
UTSW |
5 |
88,812,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4182:Grsf1
|
UTSW |
5 |
88,812,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4183:Grsf1
|
UTSW |
5 |
88,812,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4184:Grsf1
|
UTSW |
5 |
88,812,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5315:Grsf1
|
UTSW |
5 |
88,821,634 (GRCm39) |
start gained |
probably benign |
|
|
R6246:Grsf1
|
UTSW |
5 |
88,810,451 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7359:Grsf1
|
UTSW |
5 |
88,813,423 (GRCm39) |
splice site |
probably null |
|
|
R7381:Grsf1
|
UTSW |
5 |
88,813,666 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7430:Grsf1
|
UTSW |
5 |
88,811,086 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7703:Grsf1
|
UTSW |
5 |
88,819,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7838:Grsf1
|
UTSW |
5 |
88,823,523 (GRCm39) |
start gained |
probably benign |
|
|
R8013:Grsf1
|
UTSW |
5 |
88,823,615 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9334:Grsf1
|
UTSW |
5 |
88,820,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
YA93:Grsf1
|
UTSW |
5 |
88,821,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTATTCCTCACCCTCACAG -3'
(R):5'- GCCATCCTGGTATAGCTAGC -3'
Sequencing Primer
(F):5'- TGCCTCCAACAAAACTGCTTC -3'
(R):5'- CATCCTGGTATAGCTAGCCTGGTAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation