Incidental Mutation 'R7171:Rims1'
ID |
558235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rims1
|
Ensembl Gene |
ENSMUSG00000041670 |
Gene Name |
regulating synaptic membrane exocytosis 1 |
Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
MMRRC Submission |
045230-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.675)
|
Stock # |
R7171 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 22498740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 68
(R68L)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081544]
[ENSMUST00000097809]
[ENSMUST00000097810]
[ENSMUST00000097811]
[ENSMUST00000115273]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081544
AA Change: R764L
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080259 Gene: ENSMUSG00000041670 AA Change: R764L
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 |
possibly damaging
Transcript: ENSMUST00000097809
AA Change: R764L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000095418 Gene: ENSMUSG00000041670 AA Change: R764L
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 |
possibly damaging
Transcript: ENSMUST00000097810
AA Change: R764L
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000095419 Gene: ENSMUSG00000041670 AA Change: R764L
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 damaging
Transcript: ENSMUST00000097811
AA Change: R764L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095420 Gene: ENSMUSG00000041670 AA Change: R764L
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 damaging
Transcript: ENSMUST00000115273
AA Change: R764L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110928 Gene: ENSMUSG00000041670 AA Change: R764L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (81/81) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519P11Rik |
T |
C |
2: 154,454,897 (GRCm39) |
N154S |
unknown |
Het |
Ank3 |
C |
T |
10: 69,828,311 (GRCm39) |
H2327Y |
|
Het |
Ano6 |
A |
G |
15: 95,818,172 (GRCm39) |
Y305C |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,151,170 (GRCm39) |
T2075A |
possibly damaging |
Het |
Arl6 |
A |
G |
16: 59,443,455 (GRCm39) |
V93A |
possibly damaging |
Het |
Bcas3 |
T |
C |
11: 85,474,763 (GRCm39) |
S790P |
probably damaging |
Het |
Bcl9l |
C |
A |
9: 44,416,448 (GRCm39) |
H211N |
probably benign |
Het |
Bptf |
G |
T |
11: 107,022,233 (GRCm39) |
D172E |
unknown |
Het |
Card9 |
T |
G |
2: 26,249,496 (GRCm39) |
I22L |
possibly damaging |
Het |
Catsperg1 |
C |
A |
7: 28,884,637 (GRCm39) |
G933V |
probably damaging |
Het |
Catsperg2 |
T |
A |
7: 29,404,750 (GRCm39) |
H771L |
possibly damaging |
Het |
Ccdc66 |
T |
C |
14: 27,215,229 (GRCm39) |
N281S |
possibly damaging |
Het |
Cfap54 |
A |
T |
10: 92,612,072 (GRCm39) |
L3162H |
probably damaging |
Het |
Clca4a |
A |
G |
3: 144,663,934 (GRCm39) |
L503P |
probably benign |
Het |
Cpn1 |
T |
C |
19: 43,962,470 (GRCm39) |
N160D |
probably damaging |
Het |
Ctsh |
T |
A |
9: 89,949,154 (GRCm39) |
I206K |
probably benign |
Het |
Cyb561d1 |
G |
A |
3: 108,106,679 (GRCm39) |
T180M |
probably damaging |
Het |
Dapk1 |
A |
T |
13: 60,909,599 (GRCm39) |
D1404V |
probably damaging |
Het |
Dip2c |
G |
T |
13: 9,556,684 (GRCm39) |
R76L |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,719,898 (GRCm39) |
I2783T |
probably damaging |
Het |
E130308A19Rik |
T |
C |
4: 59,690,333 (GRCm39) |
Y56H |
probably damaging |
Het |
Efemp2 |
G |
T |
19: 5,530,285 (GRCm39) |
A310S |
probably benign |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Faap24 |
G |
A |
7: 35,092,279 (GRCm39) |
Q213* |
probably null |
Het |
Fam181b |
G |
A |
7: 92,729,943 (GRCm39) |
G239S |
possibly damaging |
Het |
Fancm |
T |
C |
12: 65,148,394 (GRCm39) |
W670R |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,853,944 (GRCm39) |
L1636* |
probably null |
Het |
Fmnl1 |
T |
C |
11: 103,081,224 (GRCm39) |
Y357H |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,279,653 (GRCm39) |
V215E |
probably damaging |
Het |
Fscn2 |
C |
A |
11: 120,253,335 (GRCm39) |
N267K |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,816,571 (GRCm39) |
Y4101* |
probably null |
Het |
Gcn1 |
G |
A |
5: 115,728,352 (GRCm39) |
V738I |
probably benign |
Het |
Gdf9 |
C |
T |
11: 53,328,366 (GRCm39) |
R441C |
probably damaging |
Het |
Gipc3 |
C |
T |
10: 81,177,455 (GRCm39) |
G79E |
probably damaging |
Het |
Gzmf |
T |
A |
14: 56,443,391 (GRCm39) |
I196L |
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,806,080 (GRCm39) |
V1852E |
probably damaging |
Het |
Hip1r |
A |
T |
5: 124,134,007 (GRCm39) |
Q256L |
probably benign |
Het |
Hmgxb4 |
T |
C |
8: 75,746,890 (GRCm39) |
S405P |
probably damaging |
Het |
Il9r |
T |
A |
11: 32,142,671 (GRCm39) |
H294L |
probably benign |
Het |
Kif12 |
G |
A |
4: 63,086,931 (GRCm39) |
T331I |
probably damaging |
Het |
Krtap8-1 |
A |
T |
16: 89,284,794 (GRCm39) |
M1K |
probably null |
Het |
Lamc2 |
A |
T |
1: 153,015,495 (GRCm39) |
C613S |
probably damaging |
Het |
Lgr4 |
T |
A |
2: 109,831,314 (GRCm39) |
N314K |
probably benign |
Het |
Lpcat2 |
T |
C |
8: 93,635,894 (GRCm39) |
I432T |
probably benign |
Het |
Mfhas1 |
T |
C |
8: 36,056,146 (GRCm39) |
V207A |
probably benign |
Het |
Msh3 |
T |
G |
13: 92,485,806 (GRCm39) |
T173P |
probably benign |
Het |
Mup15 |
T |
A |
4: 61,356,505 (GRCm39) |
M87L |
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,965,365 (GRCm39) |
V1138A |
probably benign |
Het |
Noc2l |
T |
C |
4: 156,326,179 (GRCm39) |
V422A |
probably benign |
Het |
Notch3 |
C |
T |
17: 32,377,936 (GRCm39) |
G74D |
probably damaging |
Het |
Ocstamp |
T |
A |
2: 165,240,081 (GRCm39) |
K35I |
probably benign |
Het |
Or12k7 |
T |
C |
2: 36,958,400 (GRCm39) |
F28L |
possibly damaging |
Het |
Or52w1 |
A |
G |
7: 105,017,968 (GRCm39) |
H145R |
probably benign |
Het |
Or5p58 |
A |
G |
7: 107,694,342 (GRCm39) |
V145A |
probably benign |
Het |
Or9a2 |
T |
G |
6: 41,748,961 (GRCm39) |
T91P |
probably benign |
Het |
Plekhh2 |
T |
A |
17: 84,829,216 (GRCm39) |
V29D |
probably damaging |
Het |
Pof1b |
A |
G |
X: 111,554,042 (GRCm39) |
I544T |
probably benign |
Het |
Rad54l2 |
C |
T |
9: 106,590,677 (GRCm39) |
R483H |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,567,189 (GRCm39) |
D1128E |
possibly damaging |
Het |
Rhbdl2 |
T |
A |
4: 123,708,049 (GRCm39) |
I86N |
possibly damaging |
Het |
Rnf157 |
A |
G |
11: 116,253,199 (GRCm39) |
F70L |
possibly damaging |
Het |
Rtp3 |
C |
T |
9: 110,815,009 (GRCm39) |
C452Y |
unknown |
Het |
S100a14 |
A |
T |
3: 90,435,069 (GRCm39) |
K27* |
probably null |
Het |
Scai |
C |
T |
2: 38,996,948 (GRCm39) |
G282D |
possibly damaging |
Het |
Sclt1 |
A |
T |
3: 41,672,195 (GRCm39) |
I132N |
probably benign |
Het |
Serpinf1 |
T |
A |
11: 75,308,811 (GRCm39) |
Q2L |
possibly damaging |
Het |
Skor2 |
T |
A |
18: 76,948,681 (GRCm39) |
V801E |
probably benign |
Het |
Slc16a10 |
C |
G |
10: 39,913,255 (GRCm39) |
E484D |
probably benign |
Het |
Slc1a5 |
T |
A |
7: 16,531,463 (GRCm39) |
D489E |
probably damaging |
Het |
Slx4 |
C |
T |
16: 3,808,650 (GRCm39) |
R430H |
probably benign |
Het |
Teddm1b |
A |
T |
1: 153,750,679 (GRCm39) |
I163F |
probably damaging |
Het |
Tmem171 |
A |
T |
13: 98,828,744 (GRCm39) |
C135* |
probably null |
Het |
Tmem82 |
C |
T |
4: 141,342,284 (GRCm39) |
R306H |
possibly damaging |
Het |
Tmem94 |
T |
A |
11: 115,681,781 (GRCm39) |
|
probably null |
Het |
Trpm2 |
A |
C |
10: 77,759,848 (GRCm39) |
L1096R |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,730,859 (GRCm39) |
L780Q |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,718,732 (GRCm39) |
D521G |
probably benign |
Het |
Usp7 |
T |
C |
16: 8,534,390 (GRCm39) |
D59G |
probably benign |
Het |
Vcan |
G |
A |
13: 89,873,710 (GRCm39) |
T48I |
probably damaging |
Het |
Vmn1r45 |
A |
G |
6: 89,910,316 (GRCm39) |
L218P |
probably damaging |
Het |
Wdr25 |
A |
T |
12: 108,990,922 (GRCm39) |
T370S |
probably damaging |
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 |
R2010:Rims1
|
UTSW |
1 |
22,367,220 (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 |
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'- CCCCTGTAGGAAAAGCAAGG -3'
(R):5'- ACATTAGCAGGTCAATGGCTG -3'
Sequencing Primer
(F):5'- CAAGGGTTCTGCTAACTAATGGC -3'
(R):5'- GTTCTGCTCCTGTCGTAAAAAG -3'
|
Posted On |
2019-06-26 |