Incidental Mutation 'R4780:Rims1'
| ID |
366363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims1
|
| Ensembl Gene |
ENSMUSG00000041670 |
| Gene Name |
regulating synaptic membrane exocytosis 1 |
| Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
| MMRRC Submission |
041993-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.675)
|
| Stock # |
R4780 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22361329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 1186
(Q1186R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095418
(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: Q1111R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: Q1111R
| 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: Q1186R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: Q1186R
| 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 damaging
Transcript: ENSMUST00000097810
AA Change: Q1247R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: Q1247R
| 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: Q1275R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: Q1275R
| 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: Q1162R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: Q1162R
| 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 damaging
Transcript: ENSMUST00000164877
AA Change: Q70R
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131808
Gene: ENSMUSG00000041670
AA Change: Q70R
| 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: Q579R
|
| Meta Mutation Damage Score |
0.1261 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
98% (107/109) |
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,771,131 (GRCm39) |
N107D |
probably benign |
Het |
| 4833413E03Rik |
A |
C |
17: 31,777,738 (GRCm39) |
|
noncoding transcript |
Het |
| 4931429L15Rik |
G |
T |
9: 46,220,144 (GRCm39) |
H129Q |
possibly damaging |
Het |
| A730018C14Rik |
A |
G |
12: 112,382,069 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc6 |
T |
A |
7: 45,646,115 (GRCm39) |
K791N |
probably benign |
Het |
| Adcy4 |
T |
G |
14: 56,012,493 (GRCm39) |
Q550P |
probably benign |
Het |
| Add3 |
C |
A |
19: 53,223,223 (GRCm39) |
A325E |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 111,514,528 (GRCm39) |
I513N |
possibly damaging |
Het |
| Agfg1 |
C |
A |
1: 82,864,108 (GRCm39) |
T392K |
probably damaging |
Het |
| Akna |
C |
A |
4: 63,297,491 (GRCm39) |
M854I |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,802,916 (GRCm39) |
N194S |
probably benign |
Het |
| Anks1b |
A |
G |
10: 89,709,594 (GRCm39) |
K21E |
probably damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,586,889 (GRCm39) |
F154L |
probably benign |
Het |
| Apbb2 |
T |
A |
5: 66,520,160 (GRCm39) |
N477I |
probably damaging |
Het |
| Apobec3 |
T |
C |
15: 79,783,225 (GRCm39) |
C101R |
possibly damaging |
Het |
| Arnt |
G |
T |
3: 95,395,696 (GRCm39) |
V410F |
probably damaging |
Het |
| Arsg |
G |
A |
11: 109,424,839 (GRCm39) |
R270H |
possibly damaging |
Het |
| B3gnt7 |
T |
A |
1: 86,232,992 (GRCm39) |
D79E |
probably damaging |
Het |
| Cd44 |
G |
T |
2: 102,691,910 (GRCm39) |
A126D |
probably damaging |
Het |
| Cd69 |
A |
G |
6: 129,248,318 (GRCm39) |
I56T |
probably damaging |
Het |
| Cep120 |
G |
A |
18: 53,857,608 (GRCm39) |
P286S |
probably benign |
Het |
| Ces2a |
T |
C |
8: 105,463,840 (GRCm39) |
F184S |
probably damaging |
Het |
| Chrng |
A |
G |
1: 87,135,246 (GRCm39) |
N185S |
probably damaging |
Het |
| Cldn6 |
A |
T |
17: 23,900,221 (GRCm39) |
M62L |
probably benign |
Het |
| Cntn6 |
T |
A |
6: 104,822,745 (GRCm39) |
N765K |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,454,392 (GRCm39) |
Y146C |
probably damaging |
Het |
| Ctnnal1 |
T |
C |
4: 56,847,857 (GRCm39) |
D94G |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Depdc1a |
A |
G |
3: 159,232,343 (GRCm39) |
N698S |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,364,697 (GRCm39) |
I1986N |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,392,174 (GRCm39) |
E3845G |
probably benign |
Het |
| Dpysl3 |
C |
T |
18: 43,487,867 (GRCm39) |
V159I |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,627,630 (GRCm39) |
Y4047H |
probably damaging |
Het |
| E130308A19Rik |
C |
T |
4: 59,691,057 (GRCm39) |
P297L |
probably benign |
Het |
| E2f5 |
A |
G |
3: 14,652,379 (GRCm39) |
T72A |
probably benign |
Het |
| Ephb6 |
G |
T |
6: 41,593,073 (GRCm39) |
R437L |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,337,473 (GRCm39) |
H615R |
probably damaging |
Het |
| Erbin |
T |
C |
13: 104,020,714 (GRCm39) |
T82A |
probably damaging |
Het |
| Eri2 |
T |
C |
7: 119,384,903 (GRCm39) |
N533D |
probably benign |
Het |
| Fkbp9 |
A |
G |
6: 56,827,701 (GRCm39) |
N174S |
probably damaging |
Het |
| Fsbp |
C |
T |
4: 11,583,709 (GRCm39) |
T136I |
possibly damaging |
Het |
| Fubp3 |
C |
A |
2: 31,473,223 (GRCm39) |
D47E |
probably damaging |
Het |
| Gm21850 |
G |
A |
2: 153,898,419 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5141 |
T |
A |
13: 62,922,764 (GRCm39) |
Y135F |
unknown |
Het |
| Gm7353 |
T |
A |
7: 3,160,725 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9925 |
T |
C |
18: 74,198,344 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,541,792 (GRCm39) |
S1180P |
probably benign |
Het |
| H2ac11 |
G |
A |
13: 22,227,079 (GRCm39) |
Q7* |
probably null |
Het |
| Ift70a2 |
A |
C |
2: 75,807,920 (GRCm39) |
C197W |
probably benign |
Het |
| Kiz |
A |
G |
2: 146,731,166 (GRCm39) |
T192A |
possibly damaging |
Het |
| Klhl24 |
T |
A |
16: 19,925,708 (GRCm39) |
C79S |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,966 (GRCm39) |
H231R |
probably damaging |
Het |
| Mbd4 |
C |
A |
6: 115,826,345 (GRCm39) |
R194S |
probably benign |
Het |
| Mettl21e |
A |
C |
1: 44,250,303 (GRCm39) |
S34R |
probably benign |
Het |
| Mrps5 |
T |
C |
2: 127,440,161 (GRCm39) |
V245A |
probably benign |
Het |
| Mtrf1 |
T |
C |
14: 79,639,128 (GRCm39) |
Y87H |
probably benign |
Het |
| Myh15 |
T |
C |
16: 48,940,420 (GRCm39) |
I790T |
probably benign |
Het |
| Necab1 |
T |
G |
4: 14,989,248 (GRCm39) |
I176L |
probably benign |
Het |
| Nfkb2 |
T |
A |
19: 46,298,361 (GRCm39) |
L555Q |
probably damaging |
Het |
| Nhlrc3 |
T |
A |
3: 53,365,988 (GRCm39) |
E168D |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,135,203 (GRCm39) |
C949S |
probably damaging |
Het |
| Nup155 |
C |
A |
15: 8,187,187 (GRCm39) |
A1372E |
probably benign |
Het |
| Nynrin |
G |
T |
14: 56,100,720 (GRCm39) |
R170L |
probably damaging |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,402 (GRCm39) |
N275Y |
probably damaging |
Het |
| Olr1 |
A |
T |
6: 129,465,839 (GRCm39) |
S56T |
probably damaging |
Het |
| Or4k52 |
A |
G |
2: 111,611,190 (GRCm39) |
D175G |
probably damaging |
Het |
| Or5aq1 |
C |
T |
2: 86,966,221 (GRCm39) |
S148N |
probably damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,319 (GRCm39) |
N138S |
probably benign |
Het |
| Or8b48 |
A |
G |
9: 38,493,265 (GRCm39) |
T231A |
possibly damaging |
Het |
| Ovol2 |
A |
T |
2: 144,173,203 (GRCm39) |
|
probably benign |
Het |
| Pcdha6 |
A |
T |
18: 37,102,906 (GRCm39) |
I700F |
probably damaging |
Het |
| Prkcz |
C |
T |
4: 155,374,159 (GRCm39) |
V86M |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,734,639 (GRCm39) |
T2124A |
probably benign |
Het |
| Ranbp3 |
G |
T |
17: 56,980,346 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 79,077,076 (GRCm39) |
|
probably benign |
Het |
| Rbl1 |
A |
G |
2: 157,016,724 (GRCm39) |
V625A |
probably benign |
Het |
| Rbm38 |
G |
T |
2: 172,863,944 (GRCm39) |
G38C |
probably damaging |
Het |
| Reg1 |
T |
G |
6: 78,403,333 (GRCm39) |
F7C |
possibly damaging |
Het |
| Retnlg |
A |
T |
16: 48,694,697 (GRCm39) |
Q115L |
possibly damaging |
Het |
| Rhobtb1 |
G |
A |
10: 69,105,983 (GRCm39) |
V183I |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,794,522 (GRCm39) |
F1246L |
possibly damaging |
Het |
| Samm50 |
A |
G |
15: 84,094,811 (GRCm39) |
N401S |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,336,537 (GRCm39) |
I690F |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,944,993 (GRCm39) |
D304G |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 113,093,594 (GRCm39) |
Y183C |
probably damaging |
Het |
| Slamf1 |
A |
T |
1: 171,604,829 (GRCm39) |
T200S |
probably benign |
Het |
| Slc34a2 |
C |
T |
5: 53,226,793 (GRCm39) |
R639C |
probably damaging |
Het |
| Smap1 |
A |
T |
1: 23,892,517 (GRCm39) |
M149K |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,132,419 (GRCm39) |
|
probably benign |
Het |
| Sp140 |
T |
A |
1: 85,538,549 (GRCm39) |
D95E |
possibly damaging |
Het |
| Spata13 |
G |
A |
14: 60,991,356 (GRCm39) |
W366* |
probably null |
Het |
| Spata31e4 |
C |
A |
13: 50,855,116 (GRCm39) |
S251R |
probably damaging |
Het |
| Strip1 |
G |
A |
3: 107,534,314 (GRCm39) |
T136I |
probably benign |
Het |
| Tacr1 |
A |
T |
6: 82,534,053 (GRCm39) |
T360S |
probably benign |
Het |
| Tbc1d14 |
T |
A |
5: 36,728,600 (GRCm39) |
|
probably benign |
Het |
| Tcaf2 |
T |
C |
6: 42,604,996 (GRCm39) |
Y596C |
probably damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,669,269 (GRCm39) |
T1454I |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,744,927 (GRCm39) |
M5374K |
probably benign |
Het |
| Uts2r |
G |
A |
11: 121,051,705 (GRCm39) |
V190I |
possibly damaging |
Het |
| Vmn1r181 |
A |
G |
7: 23,684,008 (GRCm39) |
T158A |
possibly damaging |
Het |
| Wdr35 |
A |
T |
12: 9,068,150 (GRCm39) |
T778S |
probably benign |
Het |
| Xrn1 |
A |
T |
9: 95,856,797 (GRCm39) |
|
probably benign |
Het |
| Zfp35 |
A |
T |
18: 24,136,326 (GRCm39) |
K223N |
probably damaging |
Het |
| Zfp764 |
T |
C |
7: 127,003,943 (GRCm39) |
Q396R |
probably benign |
Het |
| Zfyve1 |
T |
C |
12: 83,605,421 (GRCm39) |
Y11C |
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 |
|
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'- TGGCTTGGATCAAACATAAACC -3'
(R):5'- ATCTAAACGTGGGTTAGTACCAG -3'
Sequencing Primer
(F):5'- AGCCTGTAATTCCAGTTCCAGGTAG -3'
(R):5'- CGTGGGTTAGTACCAGATAAAAATG -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation