Incidental Mutation 'R0483:Rims1'
| ID |
42084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims1
|
| Ensembl Gene |
ENSMUSG00000041670 |
| Gene Name |
regulating synaptic membrane exocytosis 1 |
| Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
| MMRRC Submission |
038683-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.675)
|
| Stock # |
R0483 (G1)
|
| Quality Score |
185 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 22507263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000081544
|
| SMART Domains |
Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
| 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 benign
Transcript: ENSMUST00000097808
|
| SMART Domains |
Protein: ENSMUSP00000095417
Gene: ENSMUSG00000041670
| 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 benign
Transcript: ENSMUST00000097809
|
| SMART Domains |
Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
| 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
|
| SMART Domains |
Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
| 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
|
| SMART Domains |
Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
99% (89/90) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500009L16Rik |
G |
A |
10: 83,595,502 (GRCm39) |
|
probably benign |
Het |
| 1700048O20Rik |
A |
T |
9: 121,769,769 (GRCm39) |
|
noncoding transcript |
Het |
| AA986860 |
A |
G |
1: 130,671,562 (GRCm39) |
R595G |
probably damaging |
Het |
| Acrbp |
C |
A |
6: 125,031,759 (GRCm39) |
F353L |
possibly damaging |
Het |
| Adamts20 |
T |
A |
15: 94,251,452 (GRCm39) |
Q445L |
probably benign |
Het |
| Adgrg5 |
A |
G |
8: 95,660,136 (GRCm39) |
D26G |
possibly damaging |
Het |
| Atad2b |
A |
T |
12: 4,995,035 (GRCm39) |
|
probably benign |
Het |
| Atg2a |
G |
T |
19: 6,306,631 (GRCm39) |
G1439C |
probably damaging |
Het |
| Atg2a |
G |
T |
19: 6,306,632 (GRCm39) |
G1439V |
probably benign |
Het |
| B3galt1 |
G |
A |
2: 67,948,932 (GRCm39) |
V216I |
probably benign |
Het |
| Bmerb1 |
T |
C |
16: 13,913,803 (GRCm39) |
*113R |
probably null |
Het |
| C2cd2 |
A |
G |
16: 97,660,788 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,564,025 (GRCm39) |
V884M |
probably damaging |
Het |
| Cers5 |
C |
A |
15: 99,643,795 (GRCm39) |
C22F |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,924,307 (GRCm39) |
C14F |
probably benign |
Het |
| Cntn3 |
G |
T |
6: 102,180,927 (GRCm39) |
P756Q |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,286,423 (GRCm39) |
|
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,693,777 (GRCm39) |
|
probably null |
Het |
| Cox5b |
G |
A |
1: 36,731,636 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
C |
A |
13: 104,947,724 (GRCm39) |
|
probably null |
Het |
| Cyp27b1 |
A |
C |
10: 126,886,026 (GRCm39) |
M260L |
probably benign |
Het |
| Ddx19b |
A |
T |
8: 111,735,310 (GRCm39) |
N465K |
probably benign |
Het |
| Depdc1b |
T |
C |
13: 108,510,382 (GRCm39) |
V298A |
probably benign |
Het |
| Dnaaf1 |
A |
G |
8: 120,317,405 (GRCm39) |
I311M |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,937,950 (GRCm39) |
N3372S |
probably benign |
Het |
| Dus4l |
G |
A |
12: 31,691,656 (GRCm39) |
T184I |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,768,076 (GRCm39) |
K453E |
possibly damaging |
Het |
| Fhod3 |
C |
T |
18: 24,842,673 (GRCm39) |
T3M |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,672,048 (GRCm39) |
L446P |
probably damaging |
Het |
| Gfod1 |
T |
A |
13: 43,354,012 (GRCm39) |
D321V |
possibly damaging |
Het |
| Glt8d2 |
C |
A |
10: 82,497,987 (GRCm39) |
|
probably benign |
Het |
| Gm11115 |
A |
G |
5: 88,301,948 (GRCm39) |
M4T |
unknown |
Het |
| Gm11568 |
G |
A |
11: 99,749,209 (GRCm39) |
C138Y |
unknown |
Het |
| Gm57859 |
C |
T |
11: 113,580,021 (GRCm39) |
T472I |
possibly damaging |
Het |
| Gm9742 |
A |
G |
13: 8,085,052 (GRCm39) |
|
noncoding transcript |
Het |
| Gnrhr |
G |
T |
5: 86,345,434 (GRCm39) |
T84N |
probably damaging |
Het |
| Gpr176 |
C |
A |
2: 118,110,204 (GRCm39) |
G352W |
probably damaging |
Het |
| Habp2 |
T |
C |
19: 56,304,864 (GRCm39) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Inpp5j |
C |
G |
11: 3,449,738 (GRCm39) |
W681C |
probably damaging |
Het |
| Insl6 |
A |
G |
19: 29,298,968 (GRCm39) |
M148T |
probably benign |
Het |
| Itgb1 |
T |
G |
8: 129,452,648 (GRCm39) |
M771R |
possibly damaging |
Het |
| Kank1 |
G |
T |
19: 25,403,357 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,366,942 (GRCm39) |
Y271H |
probably damaging |
Het |
| Kcnq4 |
C |
A |
4: 120,573,798 (GRCm39) |
R221L |
probably damaging |
Het |
| Klk1b26 |
G |
A |
7: 43,665,772 (GRCm39) |
V195I |
probably benign |
Het |
| Lactb |
A |
C |
9: 66,878,145 (GRCm39) |
V228G |
possibly damaging |
Het |
| Ldb3 |
T |
C |
14: 34,258,541 (GRCm39) |
D649G |
probably damaging |
Het |
| Lilra6 |
T |
A |
7: 3,916,138 (GRCm39) |
R240S |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,338,145 (GRCm39) |
Y1212H |
probably damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,216,321 (GRCm39) |
|
probably null |
Het |
| Mctp1 |
C |
T |
13: 76,975,846 (GRCm39) |
L483F |
probably damaging |
Het |
| Mmp16 |
T |
C |
4: 18,115,878 (GRCm39) |
|
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,445,033 (GRCm39) |
L360* |
probably null |
Het |
| Myh4 |
A |
G |
11: 67,143,123 (GRCm39) |
E1017G |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 49,879,928 (GRCm39) |
M307L |
probably benign |
Het |
| Or10al3 |
C |
T |
17: 38,012,188 (GRCm39) |
A209V |
probably benign |
Het |
| Or10d1 |
A |
C |
9: 39,484,139 (GRCm39) |
C139G |
probably damaging |
Het |
| Or5m11 |
A |
G |
2: 85,781,587 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or8k35 |
A |
G |
2: 86,424,752 (GRCm39) |
V140A |
probably benign |
Het |
| Phc2 |
A |
G |
4: 128,617,100 (GRCm39) |
|
probably benign |
Het |
| Pp2d1 |
C |
A |
17: 53,814,999 (GRCm39) |
C575F |
probably benign |
Het |
| Ptpra |
T |
A |
2: 130,381,605 (GRCm39) |
N364K |
probably damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,550,995 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
G |
A |
15: 89,427,442 (GRCm39) |
|
probably benign |
Het |
| Sit1 |
T |
A |
4: 43,482,991 (GRCm39) |
Q86L |
possibly damaging |
Het |
| Skint4 |
C |
A |
4: 111,975,136 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
G |
T |
4: 111,796,020 (GRCm39) |
|
probably benign |
Het |
| Smim13 |
T |
C |
13: 41,426,186 (GRCm39) |
I74T |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,361,676 (GRCm39) |
E230G |
possibly damaging |
Het |
| Spmap2l |
A |
G |
5: 77,185,204 (GRCm39) |
|
probably benign |
Het |
| Srpra |
A |
G |
9: 35,127,291 (GRCm39) |
T614A |
possibly damaging |
Het |
| Synpo2 |
T |
C |
3: 122,907,981 (GRCm39) |
D445G |
probably damaging |
Het |
| Tas2r102 |
A |
T |
6: 132,739,328 (GRCm39) |
I79F |
probably damaging |
Het |
| Tmc4 |
A |
G |
7: 3,670,609 (GRCm39) |
L494P |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,053,805 (GRCm39) |
V1412F |
probably damaging |
Het |
| Topors |
T |
C |
4: 40,261,952 (GRCm39) |
D444G |
probably damaging |
Het |
| Trappc8 |
T |
A |
18: 20,978,658 (GRCm39) |
I813F |
possibly damaging |
Het |
| Trim26 |
T |
C |
17: 37,163,598 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
T |
C |
8: 72,097,557 (GRCm39) |
D1171G |
probably damaging |
Het |
| Usp7 |
A |
G |
16: 8,517,126 (GRCm39) |
V245A |
probably damaging |
Het |
| Vmn1r38 |
T |
A |
6: 66,753,979 (GRCm39) |
T46S |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,959 (GRCm39) |
T673A |
probably damaging |
Het |
| Zcchc14 |
T |
A |
8: 122,355,388 (GRCm39) |
|
probably benign |
Het |
| Zfp451 |
T |
A |
1: 33,809,991 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- CATGGAACTACATTTCCAGCCATCCTT -3'
(R):5'- ACATACCGTGTGATGTAATACGGCAG -3'
Sequencing Primer
(F):5'- AATCTAAATTGTGCCCATGAGC -3'
(R):5'- ggggaatgccaggatgag -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation