Incidental Mutation 'R2010:Rims1'
| ID |
219413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims1
|
| Ensembl Gene |
ENSMUSG00000041670 |
| Gene Name |
regulating synaptic membrane exocytosis 1 |
| Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
| MMRRC Submission |
040019-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.675)
|
| Stock # |
R2010 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22367220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1024
(E1024G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081544]
[ENSMUST00000097809]
[ENSMUST00000097810]
[ENSMUST00000097811]
[ENSMUST00000115273]
[ENSMUST00000164877]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081544
AA Change: E1024G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: E1024G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
coiled coil region
|
30 |
52 |
N/A |
INTRINSIC |
|
Pfam:FYVE_2
|
102 |
205 |
2.6e-9 |
PFAM |
|
low complexity region
|
283 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
394 |
N/A |
INTRINSIC |
|
PDZ
|
449 |
528 |
1.44e-15 |
SMART |
|
low complexity region
|
535 |
551 |
N/A |
INTRINSIC |
|
C2
|
593 |
703 |
7.55e-1 |
SMART |
|
low complexity region
|
710 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
|
C2
|
1120 |
1223 |
7.45e-15 |
SMART |
|
low complexity region
|
1245 |
1253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097809
AA Change: E1099G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: E1099G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
coiled coil region
|
30 |
52 |
N/A |
INTRINSIC |
|
Pfam:FYVE_2
|
102 |
205 |
1e-9 |
PFAM |
|
low complexity region
|
283 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
394 |
N/A |
INTRINSIC |
|
PDZ
|
449 |
528 |
1.44e-15 |
SMART |
|
low complexity region
|
535 |
551 |
N/A |
INTRINSIC |
|
C2
|
593 |
703 |
7.55e-1 |
SMART |
|
low complexity region
|
710 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
862 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
974 |
1009 |
N/A |
INTRINSIC |
|
low complexity region
|
1086 |
1100 |
N/A |
INTRINSIC |
|
C2
|
1195 |
1298 |
7.45e-15 |
SMART |
|
low complexity region
|
1320 |
1328 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097810
AA Change: E1160G
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: E1160G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
coiled coil region
|
30 |
52 |
N/A |
INTRINSIC |
|
PDB:2CJS|C
|
131 |
193 |
2e-32 |
PDB |
|
low complexity region
|
283 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
394 |
N/A |
INTRINSIC |
|
PDZ
|
449 |
528 |
1.44e-15 |
SMART |
|
low complexity region
|
535 |
551 |
N/A |
INTRINSIC |
|
C2
|
593 |
703 |
7.55e-1 |
SMART |
|
low complexity region
|
710 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
862 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
1035 |
1070 |
N/A |
INTRINSIC |
|
low complexity region
|
1147 |
1161 |
N/A |
INTRINSIC |
|
C2
|
1256 |
1359 |
7.45e-15 |
SMART |
|
low complexity region
|
1381 |
1389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097811
AA Change: E1188G
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: E1188G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
coiled coil region
|
30 |
52 |
N/A |
INTRINSIC |
|
Pfam:FYVE_2
|
102 |
205 |
1.6e-9 |
PFAM |
|
low complexity region
|
283 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
394 |
N/A |
INTRINSIC |
|
PDZ
|
449 |
528 |
1.44e-15 |
SMART |
|
low complexity region
|
535 |
551 |
N/A |
INTRINSIC |
|
C2
|
593 |
703 |
7.55e-1 |
SMART |
|
low complexity region
|
710 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
881 |
N/A |
INTRINSIC |
|
low complexity region
|
944 |
957 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1098 |
N/A |
INTRINSIC |
|
low complexity region
|
1175 |
1189 |
N/A |
INTRINSIC |
|
C2
|
1284 |
1387 |
7.45e-15 |
SMART |
|
low complexity region
|
1409 |
1417 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115273
AA Change: E1075G
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: E1075G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
coiled coil region
|
30 |
52 |
N/A |
INTRINSIC |
|
Pfam:FYVE_2
|
102 |
205 |
2.8e-9 |
PFAM |
|
low complexity region
|
283 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
394 |
N/A |
INTRINSIC |
|
PDZ
|
449 |
528 |
1.44e-15 |
SMART |
|
low complexity region
|
535 |
551 |
N/A |
INTRINSIC |
|
C2
|
593 |
703 |
7.55e-1 |
SMART |
|
low complexity region
|
710 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
950 |
985 |
N/A |
INTRINSIC |
|
low complexity region
|
1062 |
1076 |
N/A |
INTRINSIC |
|
C2
|
1171 |
1274 |
7.45e-15 |
SMART |
|
low complexity region
|
1296 |
1304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164877
|
| SMART Domains |
Protein: ENSMUSP00000131808
Gene: ENSMUSG00000041670
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
79 |
182 |
7.45e-15 |
SMART |
|
low complexity region
|
204 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000185942
AA Change: E492G
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
| Validation Efficiency |
|
| 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 RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display defects in maternal care and abnormalities in synaptic transmission in the central nervous system. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
G |
A |
3: 36,535,955 (GRCm39) |
G74S |
unknown |
Het |
| Aimp1 |
A |
T |
3: 132,373,253 (GRCm39) |
L229Q |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,344,865 (GRCm39) |
T52A |
possibly damaging |
Het |
| Aste1 |
C |
A |
9: 105,280,701 (GRCm39) |
H25Q |
probably damaging |
Het |
| Atp13a1 |
G |
A |
8: 70,244,010 (GRCm39) |
G36R |
possibly damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,163,604 (GRCm39) |
V634A |
probably damaging |
Het |
| Bltp1 |
T |
G |
3: 36,982,700 (GRCm39) |
N788K |
probably benign |
Het |
| C1s1 |
A |
T |
6: 124,514,353 (GRCm39) |
Y168N |
probably damaging |
Het |
| Camsap2 |
T |
C |
1: 136,202,606 (GRCm39) |
S612G |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,150,006 (GRCm39) |
R2611L |
probably damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,511,021 (GRCm38) |
F464L |
probably damaging |
Het |
| Cilp2 |
A |
G |
8: 70,334,344 (GRCm39) |
Y885H |
probably damaging |
Het |
| Dhrs3 |
C |
T |
4: 144,653,758 (GRCm39) |
T227I |
possibly damaging |
Het |
| Dnah2 |
A |
T |
11: 69,349,184 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
G |
7: 119,694,400 (GRCm39) |
M1L |
probably benign |
Het |
| Ehbp1l1 |
A |
G |
19: 5,769,311 (GRCm39) |
I664T |
probably benign |
Het |
| Eif4e |
C |
T |
3: 138,261,219 (GRCm39) |
T171I |
probably benign |
Het |
| Elfn1 |
C |
T |
5: 139,959,071 (GRCm39) |
R692W |
probably damaging |
Het |
| Eps8l3 |
T |
A |
3: 107,786,688 (GRCm39) |
M1K |
probably null |
Het |
| Evi5 |
C |
A |
5: 107,961,411 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
A |
T |
6: 113,570,252 (GRCm39) |
D1401V |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,144,653 (GRCm39) |
R4074C |
probably damaging |
Het |
| Fkbp4 |
A |
T |
6: 128,412,765 (GRCm39) |
V55E |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,373,329 (GRCm39) |
D180G |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,220,489 (GRCm39) |
F126S |
possibly damaging |
Het |
| Gdf7 |
C |
T |
12: 8,351,729 (GRCm39) |
V69M |
unknown |
Het |
| Glis2 |
A |
G |
16: 4,426,575 (GRCm39) |
E22G |
probably damaging |
Het |
| H2bc3 |
G |
A |
13: 23,931,111 (GRCm39) |
V112M |
possibly damaging |
Het |
| Hps4 |
T |
A |
5: 112,517,342 (GRCm39) |
V243E |
probably damaging |
Het |
| Ighe |
T |
A |
12: 113,235,108 (GRCm39) |
I351F |
unknown |
Het |
| Irak4 |
A |
T |
15: 94,449,687 (GRCm39) |
R55S |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,129,022 (GRCm39) |
|
probably null |
Het |
| Katnip |
A |
G |
7: 125,472,128 (GRCm39) |
I1544M |
possibly damaging |
Het |
| Kirrel3 |
T |
C |
9: 34,850,494 (GRCm39) |
Y41H |
probably damaging |
Het |
| Krr1 |
A |
G |
10: 111,811,474 (GRCm39) |
E56G |
possibly damaging |
Het |
| Lgi1 |
G |
A |
19: 38,289,683 (GRCm39) |
V250I |
probably damaging |
Het |
| Lipf |
A |
G |
19: 33,950,946 (GRCm39) |
N306D |
probably benign |
Het |
| Lman2l |
C |
T |
1: 36,484,262 (GRCm39) |
W18* |
probably null |
Het |
| Lztfl1 |
T |
A |
9: 123,531,251 (GRCm39) |
N239I |
possibly damaging |
Het |
| Mief1 |
T |
C |
15: 80,132,126 (GRCm39) |
S66P |
possibly damaging |
Het |
| Mmp8 |
C |
A |
9: 7,567,535 (GRCm39) |
S465* |
probably null |
Het |
| Muc2 |
A |
T |
7: 141,287,444 (GRCm39) |
T208S |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,187,990 (GRCm39) |
K921* |
probably null |
Het |
| Myh9 |
T |
C |
15: 77,656,147 (GRCm39) |
E1121G |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,969,393 (GRCm39) |
S213P |
probably damaging |
Het |
| Nol10 |
A |
G |
12: 17,466,102 (GRCm39) |
E499G |
probably benign |
Het |
| Nxn |
T |
C |
11: 76,289,627 (GRCm39) |
E87G |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,811 (GRCm39) |
T314A |
probably benign |
Het |
| Or51f2 |
T |
A |
7: 102,526,892 (GRCm39) |
C188* |
probably null |
Het |
| Or8g23 |
T |
C |
9: 38,971,395 (GRCm39) |
H189R |
probably benign |
Het |
| Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
| Pigk |
A |
G |
3: 152,472,151 (GRCm39) |
I354M |
probably damaging |
Het |
| Pigl |
T |
A |
11: 62,349,508 (GRCm39) |
C75S |
probably damaging |
Het |
| Pm20d1 |
T |
A |
1: 131,739,852 (GRCm39) |
I400N |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,172,664 (GRCm39) |
H17L |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,003,719 (GRCm39) |
L168Q |
probably damaging |
Het |
| Rab3gap2 |
A |
T |
1: 185,010,478 (GRCm39) |
H1136L |
possibly damaging |
Het |
| Rb1 |
T |
C |
14: 73,532,433 (GRCm39) |
T134A |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,861,376 (GRCm39) |
V977A |
probably benign |
Het |
| Rusc2 |
C |
T |
4: 43,415,212 (GRCm39) |
P173S |
probably benign |
Het |
| Selenov |
A |
T |
7: 27,987,447 (GRCm39) |
D310E |
probably damaging |
Het |
| Serpina3f |
T |
A |
12: 104,183,582 (GRCm39) |
L148Q |
probably damaging |
Het |
| Slc10a1 |
C |
T |
12: 81,007,221 (GRCm39) |
V187I |
probably benign |
Het |
| Spsb2 |
A |
G |
6: 124,787,339 (GRCm39) |
K258E |
probably damaging |
Het |
| Tas2r105 |
A |
C |
6: 131,664,365 (GRCm39) |
V21G |
probably benign |
Het |
| Tmem229b-ps |
T |
A |
10: 53,351,295 (GRCm39) |
|
noncoding transcript |
Het |
| Tnrc6a |
C |
G |
7: 122,770,269 (GRCm39) |
H686Q |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,743,780 (GRCm39) |
F715L |
probably benign |
Het |
| Ube2t |
T |
A |
1: 134,897,036 (GRCm39) |
I56N |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,207,963 (GRCm39) |
Y4915H |
possibly damaging |
Het |
| Usp32 |
T |
A |
11: 84,930,830 (GRCm39) |
E533D |
probably damaging |
Het |
| Vipr2 |
T |
G |
12: 116,086,430 (GRCm39) |
|
probably null |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,269 (GRCm39) |
T46A |
probably benign |
Het |
| Vmn1r203 |
T |
G |
13: 22,708,617 (GRCm39) |
S133A |
possibly damaging |
Het |
| Vmn1r215 |
T |
G |
13: 23,260,378 (GRCm39) |
N139K |
probably damaging |
Het |
| Vmn1r232 |
C |
T |
17: 21,133,601 (GRCm39) |
R333H |
probably benign |
Het |
| Wdr20rt |
C |
A |
12: 65,273,988 (GRCm39) |
H311N |
possibly damaging |
Het |
| Zranb1 |
T |
C |
7: 132,568,425 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rims1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Rims1
|
APN |
1 |
22,507,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00535:Rims1
|
APN |
1 |
22,503,172 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01021:Rims1
|
APN |
1 |
22,525,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01106:Rims1
|
APN |
1 |
22,449,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01128:Rims1
|
APN |
1 |
22,573,256 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01548:Rims1
|
APN |
1 |
22,577,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01688:Rims1
|
APN |
1 |
22,467,764 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02089:Rims1
|
APN |
1 |
22,669,556 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02245:Rims1
|
APN |
1 |
22,416,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02355:Rims1
|
APN |
1 |
22,522,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Rims1
|
APN |
1 |
22,522,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02682:Rims1
|
APN |
1 |
22,358,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03006:Rims1
|
APN |
1 |
22,367,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03054:Rims1
|
UTSW |
1 |
22,360,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Rims1
|
UTSW |
1 |
22,467,684 (GRCm39) |
missense |
|
|
|
R0031:Rims1
|
UTSW |
1 |
22,367,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Rims1
|
UTSW |
1 |
22,416,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Rims1
|
UTSW |
1 |
22,635,607 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0483:Rims1
|
UTSW |
1 |
22,507,263 (GRCm39) |
splice site |
probably benign |
|
|
R0744:Rims1
|
UTSW |
1 |
22,497,709 (GRCm39) |
splice site |
probably null |
|
|
R0836:Rims1
|
UTSW |
1 |
22,497,709 (GRCm39) |
splice site |
probably null |
|
|
R1218:Rims1
|
UTSW |
1 |
22,522,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1228:Rims1
|
UTSW |
1 |
22,511,837 (GRCm39) |
missense |
probably null |
1.00 |
|
R1374:Rims1
|
UTSW |
1 |
22,367,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Rims1
|
UTSW |
1 |
22,577,362 (GRCm39) |
splice site |
probably benign |
|
|
R1652:Rims1
|
UTSW |
1 |
22,363,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1712:Rims1
|
UTSW |
1 |
22,367,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Rims1
|
UTSW |
1 |
22,416,753 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1783:Rims1
|
UTSW |
1 |
22,416,753 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1861:Rims1
|
UTSW |
1 |
22,635,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Rims1
|
UTSW |
1 |
22,498,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Rims1
|
UTSW |
1 |
22,358,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:Rims1
|
UTSW |
1 |
22,635,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Rims1
|
UTSW |
1 |
22,474,732 (GRCm39) |
nonsense |
probably null |
|
|
R2860:Rims1
|
UTSW |
1 |
22,503,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2861:Rims1
|
UTSW |
1 |
22,503,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2914:Rims1
|
UTSW |
1 |
22,844,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3740:Rims1
|
UTSW |
1 |
22,443,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3741:Rims1
|
UTSW |
1 |
22,443,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Rims1
|
UTSW |
1 |
22,492,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Rims1
|
UTSW |
1 |
22,498,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3901:Rims1
|
UTSW |
1 |
22,572,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3964:Rims1
|
UTSW |
1 |
22,497,709 (GRCm39) |
splice site |
probably null |
|
|
R4037:Rims1
|
UTSW |
1 |
22,514,793 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4039:Rims1
|
UTSW |
1 |
22,514,793 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4056:Rims1
|
UTSW |
1 |
22,363,163 (GRCm39) |
splice site |
probably benign |
|
|
R4062:Rims1
|
UTSW |
1 |
22,572,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4552:Rims1
|
UTSW |
1 |
22,443,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4658:Rims1
|
UTSW |
1 |
22,497,793 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4688:Rims1
|
UTSW |
1 |
22,518,528 (GRCm39) |
nonsense |
probably null |
|
|
R4696:Rims1
|
UTSW |
1 |
22,358,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Rims1
|
UTSW |
1 |
22,497,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4764:Rims1
|
UTSW |
1 |
22,518,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Rims1
|
UTSW |
1 |
22,361,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4931:Rims1
|
UTSW |
1 |
22,573,028 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5137:Rims1
|
UTSW |
1 |
22,358,844 (GRCm39) |
nonsense |
probably null |
|
|
R5153:Rims1
|
UTSW |
1 |
22,522,328 (GRCm39) |
nonsense |
probably null |
|
|
R5305:Rims1
|
UTSW |
1 |
22,635,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5354:Rims1
|
UTSW |
1 |
22,577,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Rims1
|
UTSW |
1 |
22,482,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5485:Rims1
|
UTSW |
1 |
22,522,289 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5643:Rims1
|
UTSW |
1 |
22,577,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Rims1
|
UTSW |
1 |
22,507,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Rims1
|
UTSW |
1 |
22,635,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6160:Rims1
|
UTSW |
1 |
22,503,235 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6579:Rims1
|
UTSW |
1 |
22,496,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6790:Rims1
|
UTSW |
1 |
22,507,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Rims1
|
UTSW |
1 |
22,511,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7100:Rims1
|
UTSW |
1 |
22,416,697 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7155:Rims1
|
UTSW |
1 |
22,503,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7171:Rims1
|
UTSW |
1 |
22,498,740 (GRCm39) |
missense |
|
|
|
R7448:Rims1
|
UTSW |
1 |
22,474,699 (GRCm39) |
missense |
|
|
|
R7505:Rims1
|
UTSW |
1 |
22,573,077 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7567:Rims1
|
UTSW |
1 |
22,507,291 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7639:Rims1
|
UTSW |
1 |
22,844,750 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7955:Rims1
|
UTSW |
1 |
22,507,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8005:Rims1
|
UTSW |
1 |
22,482,437 (GRCm39) |
missense |
|
|
|
R8071:Rims1
|
UTSW |
1 |
22,358,760 (GRCm39) |
nonsense |
probably null |
|
|
R8465:Rims1
|
UTSW |
1 |
22,498,731 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8517:Rims1
|
UTSW |
1 |
22,522,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8703:Rims1
|
UTSW |
1 |
22,496,137 (GRCm39) |
missense |
|
|
|
R8726:Rims1
|
UTSW |
1 |
22,633,181 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9090:Rims1
|
UTSW |
1 |
22,498,773 (GRCm39) |
missense |
|
|
|
R9179:Rims1
|
UTSW |
1 |
22,482,490 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9271:Rims1
|
UTSW |
1 |
22,498,773 (GRCm39) |
missense |
|
|
|
R9291:Rims1
|
UTSW |
1 |
22,467,746 (GRCm39) |
missense |
|
|
|
R9394:Rims1
|
UTSW |
1 |
22,511,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9578:Rims1
|
UTSW |
1 |
22,523,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9614:Rims1
|
UTSW |
1 |
22,491,969 (GRCm39) |
nonsense |
probably null |
|
|
R9726:Rims1
|
UTSW |
1 |
22,669,493 (GRCm39) |
missense |
probably null |
0.21 |
|
Z1088:Rims1
|
UTSW |
1 |
22,358,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Rims1
|
UTSW |
1 |
22,523,752 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Rims1
|
UTSW |
1 |
22,511,858 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1177:Rims1
|
UTSW |
1 |
22,507,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rims1
|
UTSW |
1 |
22,367,163 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Rims1
|
UTSW |
1 |
22,511,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Rims1
|
UTSW |
1 |
22,449,706 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTTAAGGCCACATGCAGC -3'
(R):5'- CTGGACCTGTGGGATGTCATAC -3'
Sequencing Primer
(F):5'- TTTAAGGCCACATGCAGCAAAGAC -3'
(R):5'- AGCCAATGGCTATTCAGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation