Incidental Mutation 'R5153:Rims1'
| ID |
395487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims1
|
| Ensembl Gene |
ENSMUSG00000041670 |
| Gene Name |
regulating synaptic membrane exocytosis 1 |
| Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
| MMRRC Submission |
042735-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.671)
|
| Stock # |
R5153 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 22522328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 457
(G457*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081544]
[ENSMUST00000097808]
[ENSMUST00000097809]
[ENSMUST00000097810]
[ENSMUST00000097811]
[ENSMUST00000115273]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081544
AA Change: G457*
|
| SMART Domains |
Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: G457*
| 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 null
Transcript: ENSMUST00000097808
AA Change: G635*
|
| SMART Domains |
Protein: ENSMUSP00000095417
Gene: ENSMUSG00000041670
AA Change: G635*
| 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 |
3.3e-10 |
PFAM |
|
low complexity region
|
283 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
345 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000097809
AA Change: G457*
|
| SMART Domains |
Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: G457*
| 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 null
Transcript: ENSMUST00000097810
AA Change: G457*
|
| SMART Domains |
Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: G457*
| 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 null
Transcript: ENSMUST00000097811
AA Change: G457*
|
| SMART Domains |
Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: G457*
| 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 null
Transcript: ENSMUST00000115273
AA Change: G457*
|
| SMART Domains |
Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: G457*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
T |
11: 99,728,073 (GRCm39) |
C257S |
unknown |
Het |
| 4930596D02Rik |
C |
A |
14: 35,532,212 (GRCm39) |
R121L |
probably benign |
Het |
| Aadacl4fm1 |
T |
A |
4: 144,248,837 (GRCm39) |
M68K |
probably benign |
Het |
| Acin1 |
A |
G |
14: 54,883,070 (GRCm39) |
V194A |
probably benign |
Het |
| Acsm1 |
T |
C |
7: 119,239,950 (GRCm39) |
I298T |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,885,681 (GRCm39) |
N729D |
probably benign |
Het |
| Apobr |
C |
T |
7: 126,186,904 (GRCm39) |
T20I |
possibly damaging |
Het |
| Arsb |
A |
G |
13: 94,077,106 (GRCm39) |
E491G |
probably benign |
Het |
| AW209491 |
C |
G |
13: 14,811,764 (GRCm39) |
Q206E |
probably benign |
Het |
| Camsap1 |
A |
T |
2: 25,823,630 (GRCm39) |
N1473K |
probably damaging |
Het |
| Casp8 |
A |
G |
1: 58,884,004 (GRCm39) |
Q457R |
probably benign |
Het |
| Ccdc154 |
G |
A |
17: 25,387,315 (GRCm39) |
A350T |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,711,521 (GRCm39) |
E183G |
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,268,925 (GRCm39) |
S39T |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,811,692 (GRCm39) |
I416K |
probably damaging |
Het |
| Cidea |
C |
T |
18: 67,500,490 (GRCm39) |
T184M |
probably damaging |
Het |
| Cnot10 |
G |
A |
9: 114,442,803 (GRCm39) |
A468V |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,360 (GRCm39) |
Q98R |
probably benign |
Het |
| Defb22 |
A |
T |
2: 152,327,722 (GRCm39) |
N154K |
unknown |
Het |
| Dnah17 |
A |
T |
11: 117,973,800 (GRCm39) |
C1915* |
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,411,759 (GRCm39) |
T288A |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,570,891 (GRCm39) |
M1512K |
probably damaging |
Het |
| Dsp |
T |
G |
13: 38,366,282 (GRCm39) |
I572S |
probably damaging |
Het |
| Eepd1 |
A |
G |
9: 25,498,049 (GRCm39) |
H378R |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,380,063 (GRCm39) |
Y349N |
possibly damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,497 (GRCm39) |
M743T |
possibly damaging |
Het |
| Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
| F2rl2 |
A |
G |
13: 95,833,620 (GRCm39) |
T17A |
probably benign |
Het |
| Fbxl8 |
T |
G |
8: 105,993,739 (GRCm39) |
C32G |
probably damaging |
Het |
| Fbxw17 |
A |
G |
13: 50,573,897 (GRCm39) |
T38A |
probably damaging |
Het |
| Flii |
A |
T |
11: 60,607,512 (GRCm39) |
L882Q |
possibly damaging |
Het |
| Focad |
T |
G |
4: 88,278,121 (GRCm39) |
S1197A |
unknown |
Het |
| H1f11-ps |
A |
G |
19: 47,159,356 (GRCm39) |
V73A |
probably damaging |
Het |
| Heatr5b |
G |
A |
17: 79,102,536 (GRCm39) |
R1281* |
probably null |
Het |
| Khdc3 |
A |
G |
9: 73,010,720 (GRCm39) |
Q190R |
probably benign |
Het |
| Krt9 |
T |
A |
11: 100,082,068 (GRCm39) |
D244V |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,353,724 (GRCm39) |
E463G |
probably benign |
Het |
| Lig4 |
A |
T |
8: 10,023,003 (GRCm39) |
V259E |
possibly damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,186,806 (GRCm39) |
|
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,563,579 (GRCm39) |
E22G |
probably damaging |
Het |
| Mmp23 |
T |
G |
4: 155,735,797 (GRCm39) |
D258A |
probably damaging |
Het |
| Msantd2 |
C |
T |
9: 37,434,509 (GRCm39) |
R250* |
probably null |
Het |
| Mynn |
T |
C |
3: 30,665,738 (GRCm39) |
S457P |
probably benign |
Het |
| Nectin1 |
C |
T |
9: 43,714,795 (GRCm39) |
H50Y |
probably damaging |
Het |
| Or10a3b |
T |
C |
7: 108,444,906 (GRCm39) |
I104V |
probably benign |
Het |
| Or2d3c |
C |
T |
7: 106,525,776 (GRCm39) |
V297M |
possibly damaging |
Het |
| Or4a47 |
G |
A |
2: 89,665,578 (GRCm39) |
T237I |
possibly damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,026 (GRCm39) |
N93S |
probably benign |
Het |
| Pfkfb2 |
G |
A |
1: 130,629,527 (GRCm39) |
T303M |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,368,705 (GRCm39) |
D841G |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,201,094 (GRCm39) |
|
probably null |
Het |
| Podnl1 |
C |
T |
8: 84,857,272 (GRCm39) |
H294Y |
probably benign |
Het |
| Ppig |
T |
A |
2: 69,579,994 (GRCm39) |
D509E |
unknown |
Het |
| Ppp1r16a |
T |
A |
15: 76,578,596 (GRCm39) |
Y433* |
probably null |
Het |
| Prdm1 |
A |
C |
10: 44,326,221 (GRCm39) |
V134G |
possibly damaging |
Het |
| Prx |
T |
C |
7: 27,217,901 (GRCm39) |
S940P |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,930,339 (GRCm39) |
V731I |
probably damaging |
Het |
| Qki |
A |
G |
17: 10,457,820 (GRCm39) |
|
probably null |
Het |
| Rassf6 |
T |
C |
5: 90,754,699 (GRCm39) |
K206R |
possibly damaging |
Het |
| Rdh16f2 |
G |
A |
10: 127,712,124 (GRCm39) |
E194K |
possibly damaging |
Het |
| Ripk1 |
T |
G |
13: 34,197,279 (GRCm39) |
I123R |
probably damaging |
Het |
| Rnf111 |
A |
T |
9: 70,383,422 (GRCm39) |
S170R |
probably benign |
Het |
| Shc3 |
A |
T |
13: 51,615,413 (GRCm39) |
F181L |
probably damaging |
Het |
| Siglec1 |
A |
C |
2: 130,927,497 (GRCm39) |
V103G |
probably damaging |
Het |
| Slc26a11 |
G |
T |
11: 119,268,085 (GRCm39) |
A488S |
possibly damaging |
Het |
| Smoc2 |
A |
T |
17: 14,556,841 (GRCm39) |
T97S |
probably damaging |
Het |
| Son |
T |
C |
16: 91,451,910 (GRCm39) |
I219T |
possibly damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,071,510 (GRCm39) |
I1474N |
possibly damaging |
Het |
| Syt16 |
A |
T |
12: 74,269,542 (GRCm39) |
D127V |
possibly damaging |
Het |
| Tet1 |
G |
T |
10: 62,714,357 (GRCm39) |
N479K |
possibly damaging |
Het |
| Thsd7a |
G |
A |
6: 12,338,654 (GRCm39) |
A1192V |
probably benign |
Het |
| Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
| Traj57 |
A |
G |
14: 54,396,016 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
G |
T |
11: 73,129,342 (GRCm39) |
R86S |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,343,673 (GRCm39) |
F434L |
possibly damaging |
Het |
| Vmn2r59 |
A |
C |
7: 41,691,834 (GRCm39) |
|
probably null |
Het |
| Vmn2r71 |
T |
A |
7: 85,268,430 (GRCm39) |
I211N |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,422,599 (GRCm39) |
D186E |
probably damaging |
Het |
| Vps33a |
A |
G |
5: 123,696,691 (GRCm39) |
S321P |
probably damaging |
Het |
| Wdr12 |
A |
T |
1: 60,133,670 (GRCm39) |
D19E |
probably benign |
Het |
| Zc3h12c |
A |
G |
9: 52,037,947 (GRCm39) |
F278L |
probably damaging |
Het |
| Zpld1 |
T |
C |
16: 55,067,007 (GRCm39) |
T183A |
probably damaging |
Het |
| Zswim2 |
G |
T |
2: 83,770,010 (GRCm39) |
T68K |
possibly 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 |
|
|
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'- CACATGGTAATGACTTGGTGACAAC -3'
(R):5'- ATTGCCGTCCTGTACAGTGG -3'
Sequencing Primer
(F):5'- GTGACAACTCACACACTTAAATGG -3'
(R):5'- TGTACAGTGGCTTTTAAAAATAATGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation