Incidental Mutation 'R1347:Rims3'
| ID |
156530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims3
|
| Ensembl Gene |
ENSMUSG00000032890 |
| Gene Name |
regulating synaptic membrane exocytosis 3 |
| Synonyms |
Nim3, A730060M23Rik, Rim3 |
| MMRRC Submission |
039412-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1347 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
120712013-120753776 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 120740322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 90
(G90S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071093]
[ENSMUST00000106283]
[ENSMUST00000171363]
|
| AlphaFold |
Q80U57 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071093
AA Change: G90S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068178
Gene: ENSMUSG00000032890
AA Change: G90S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
42 |
N/A |
INTRINSIC |
|
C2
|
169 |
272 |
6.64e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106283
AA Change: G90S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101890
Gene: ENSMUSG00000032890
AA Change: G90S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
42 |
N/A |
INTRINSIC |
|
C2
|
169 |
272 |
6.64e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132895
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171363
AA Change: G90S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130295
Gene: ENSMUSG00000032890
AA Change: G90S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
42 |
N/A |
INTRINSIC |
|
C2
|
169 |
272 |
6.64e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 96.4%
- 10x: 88.6%
- 20x: 71.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice exhibit normal hearing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Arpc1a |
G |
T |
5: 145,034,082 (GRCm39) |
W150L |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,350 (GRCm39) |
D646G |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,589,070 (GRCm39) |
H383Q |
probably damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,011 (GRCm39) |
T117A |
probably benign |
Het |
| Fry |
A |
T |
5: 150,419,283 (GRCm39) |
E905V |
probably damaging |
Het |
| Glyr1 |
T |
C |
16: 4,839,203 (GRCm39) |
D338G |
probably damaging |
Het |
| Gpd2 |
A |
T |
2: 57,247,683 (GRCm39) |
K542M |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,330,535 (GRCm39) |
F1679L |
probably benign |
Het |
| Kif23 |
A |
G |
9: 61,834,438 (GRCm39) |
M427T |
probably damaging |
Het |
| Kpna1 |
T |
A |
16: 35,829,696 (GRCm39) |
I83N |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,019,445 (GRCm39) |
F770L |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,755,669 (GRCm39) |
F92I |
probably damaging |
Het |
| Or2a56 |
A |
C |
6: 42,932,639 (GRCm39) |
D69A |
probably damaging |
Het |
| Or5b105 |
T |
C |
19: 13,080,054 (GRCm39) |
I199V |
probably benign |
Het |
| Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
| Rock2 |
G |
A |
12: 17,027,625 (GRCm39) |
C1314Y |
possibly damaging |
Het |
| Serpinb6e |
C |
T |
13: 34,025,180 (GRCm39) |
C37Y |
possibly damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,183,202 (GRCm39) |
T248I |
probably benign |
Het |
| Tbx15 |
C |
A |
3: 99,259,427 (GRCm39) |
Q433K |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Zim1 |
C |
A |
7: 6,680,430 (GRCm39) |
C411F |
probably damaging |
Het |
|
| Other mutations in Rims3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Rims3
|
APN |
4 |
120,748,583 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01358:Rims3
|
APN |
4 |
120,748,700 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0145:Rims3
|
UTSW |
4 |
120,744,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1347:Rims3
|
UTSW |
4 |
120,740,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Rims3
|
UTSW |
4 |
120,748,555 (GRCm39) |
missense |
probably benign |
|
|
R3708:Rims3
|
UTSW |
4 |
120,740,352 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4703:Rims3
|
UTSW |
4 |
120,740,494 (GRCm39) |
intron |
probably benign |
|
|
R5274:Rims3
|
UTSW |
4 |
120,748,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Rims3
|
UTSW |
4 |
120,740,350 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8299:Rims3
|
UTSW |
4 |
120,746,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9388:Rims3
|
UTSW |
4 |
120,748,552 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9634:Rims3
|
UTSW |
4 |
120,748,517 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Z1176:Rims3
|
UTSW |
4 |
120,746,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACCTGCCTCTGTTCAGAGAATC -3'
(R):5'- TGCAGGCATCTTGGCTGGAAAG -3'
Sequencing Primer
(F):5'- CAGAGAATCTCTTTGGTAGCACTC -3'
(R):5'- CCCTCGGAGCTGTTGCTATG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation