Incidental Mutation 'R1712:Rims1'
ID |
190635 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rims1
|
Ensembl Gene |
ENSMUSG00000041670 |
Gene Name |
regulating synaptic membrane exocytosis 1 |
Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
MMRRC Submission |
039745-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.675)
|
Stock # |
R1712 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 22367172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 1176
(T1176M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095419
(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: T1040M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000080259 Gene: ENSMUSG00000041670 AA Change: T1040M
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: T1115M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095418 Gene: ENSMUSG00000041670 AA Change: T1115M
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: T1176M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095419 Gene: ENSMUSG00000041670 AA Change: T1176M
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 |
possibly damaging
Transcript: ENSMUST00000097811
AA Change: T1204M
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000095420 Gene: ENSMUSG00000041670 AA Change: T1204M
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: T1091M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110928 Gene: ENSMUSG00000041670 AA Change: T1091M
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: T508M
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
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 |
Accs |
T |
A |
2: 93,678,448 (GRCm39) |
E12D |
probably damaging |
Het |
Ahnak2 |
C |
A |
12: 112,748,998 (GRCm39) |
R283L |
probably benign |
Het |
BC005624 |
T |
C |
2: 30,864,020 (GRCm39) |
E191G |
probably damaging |
Het |
C1galt1 |
A |
G |
6: 7,871,217 (GRCm39) |
N351S |
probably benign |
Het |
Ccdc162 |
T |
C |
10: 41,415,427 (GRCm39) |
R2179G |
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,905,284 (GRCm39) |
T1108M |
probably benign |
Het |
Cd47 |
T |
C |
16: 49,714,543 (GRCm39) |
L184P |
probably damaging |
Het |
Cdc40 |
T |
C |
10: 40,717,372 (GRCm39) |
K440E |
probably damaging |
Het |
Cenpe |
G |
A |
3: 134,971,694 (GRCm39) |
V2262I |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,390,361 (GRCm39) |
K2035E |
probably benign |
Het |
Cks1brt |
G |
T |
8: 85,898,172 (GRCm39) |
L8F |
probably benign |
Het |
Col17a1 |
T |
C |
19: 47,637,442 (GRCm39) |
|
probably benign |
Het |
Coro6 |
A |
T |
11: 77,360,293 (GRCm39) |
N421I |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,269,440 (GRCm39) |
S1480P |
probably damaging |
Het |
Csrnp3 |
G |
T |
2: 65,832,826 (GRCm39) |
A110S |
probably damaging |
Het |
Cyp2d10 |
G |
T |
15: 82,287,240 (GRCm39) |
T461K |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,308,769 (GRCm39) |
V1994A |
probably benign |
Het |
Dnah11 |
T |
A |
12: 118,160,379 (GRCm39) |
N117I |
probably benign |
Het |
Dnajc3 |
A |
G |
14: 119,195,307 (GRCm39) |
Y74C |
probably damaging |
Het |
Fam13c |
T |
A |
10: 70,390,403 (GRCm39) |
F555I |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,188,354 (GRCm39) |
D1495V |
probably damaging |
Het |
Fbrsl1 |
T |
C |
5: 110,595,862 (GRCm39) |
T58A |
probably benign |
Het |
Gjd3 |
A |
G |
11: 102,691,706 (GRCm39) |
I99T |
possibly damaging |
Het |
Glce |
T |
C |
9: 61,977,857 (GRCm39) |
N9S |
probably damaging |
Het |
Gosr1 |
T |
C |
11: 76,641,704 (GRCm39) |
T125A |
possibly damaging |
Het |
Ifi27l2a |
T |
A |
12: 103,406,202 (GRCm39) |
|
probably null |
Het |
Jph1 |
C |
T |
1: 17,167,456 (GRCm39) |
D125N |
possibly damaging |
Het |
Kbtbd12 |
A |
T |
6: 88,595,676 (GRCm39) |
S51R |
probably damaging |
Het |
Klra9 |
A |
T |
6: 130,166,659 (GRCm39) |
|
probably null |
Het |
Kmo |
A |
T |
1: 175,484,289 (GRCm39) |
M340L |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,024,181 (GRCm39) |
I93T |
possibly damaging |
Het |
Limk2 |
A |
T |
11: 3,308,104 (GRCm39) |
|
probably null |
Het |
Mgat5 |
C |
A |
1: 127,248,375 (GRCm39) |
N92K |
probably benign |
Het |
Mib2 |
T |
A |
4: 155,739,256 (GRCm39) |
I908F |
probably damaging |
Het |
Mical1 |
T |
G |
10: 41,356,359 (GRCm39) |
L304R |
probably damaging |
Het |
Mtbp |
G |
T |
15: 55,434,690 (GRCm39) |
|
probably null |
Het |
Myo3a |
T |
C |
2: 22,455,004 (GRCm39) |
Y70H |
probably damaging |
Het |
Neb |
T |
C |
2: 52,133,401 (GRCm39) |
Y3379C |
probably damaging |
Het |
Neurod2 |
G |
T |
11: 98,218,029 (GRCm39) |
N378K |
probably damaging |
Het |
Oog4 |
G |
A |
4: 143,166,484 (GRCm39) |
L107F |
probably damaging |
Het |
Or2g25 |
A |
G |
17: 37,970,799 (GRCm39) |
S142P |
probably benign |
Het |
Or4k40 |
T |
A |
2: 111,251,003 (GRCm39) |
M98L |
probably benign |
Het |
Or6x1 |
A |
G |
9: 40,099,161 (GRCm39) |
Y250C |
probably damaging |
Het |
Or8k20 |
T |
A |
2: 86,106,337 (GRCm39) |
T165S |
probably damaging |
Het |
Pfdn6 |
T |
C |
17: 34,158,528 (GRCm39) |
Y82C |
probably damaging |
Het |
Pla2g4d |
C |
A |
2: 120,107,971 (GRCm39) |
A313S |
possibly damaging |
Het |
Ptcd3 |
C |
A |
6: 71,885,637 (GRCm39) |
E30* |
probably null |
Het |
Rai1 |
A |
G |
11: 60,078,428 (GRCm39) |
T831A |
probably benign |
Het |
Rin1 |
A |
C |
19: 5,105,171 (GRCm39) |
I744L |
probably benign |
Het |
Rora |
T |
A |
9: 69,282,771 (GRCm39) |
S430T |
probably benign |
Het |
Rsph10b |
T |
A |
5: 143,873,967 (GRCm39) |
S23T |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,746,928 (GRCm39) |
N3773S |
probably benign |
Het |
Scn4a |
A |
G |
11: 106,230,180 (GRCm39) |
Y543H |
probably damaging |
Het |
Scn4a |
C |
A |
11: 106,236,373 (GRCm39) |
G296C |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,535,447 (GRCm39) |
T435A |
probably benign |
Het |
Shank2 |
G |
T |
7: 143,964,890 (GRCm39) |
D833Y |
probably damaging |
Het |
Slc9a2 |
T |
C |
1: 40,802,770 (GRCm39) |
S607P |
possibly damaging |
Het |
Slx4 |
G |
A |
16: 3,809,458 (GRCm39) |
R346W |
probably damaging |
Het |
Spata20 |
A |
T |
11: 94,371,340 (GRCm39) |
C675S |
probably benign |
Het |
Suclg2 |
A |
T |
6: 95,563,997 (GRCm39) |
I196N |
probably damaging |
Het |
Sv2b |
G |
A |
7: 74,798,807 (GRCm39) |
H272Y |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,070,629 (GRCm39) |
I2386V |
probably benign |
Het |
Taf13 |
A |
T |
3: 108,488,445 (GRCm39) |
E109D |
possibly damaging |
Het |
Tanc2 |
A |
G |
11: 105,790,606 (GRCm39) |
T976A |
probably benign |
Het |
Tax1bp1 |
A |
G |
6: 52,706,311 (GRCm39) |
Y104C |
probably damaging |
Het |
Tfeb |
T |
C |
17: 48,099,911 (GRCm39) |
|
probably null |
Het |
Tlr9 |
T |
C |
9: 106,101,248 (GRCm39) |
Y180H |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Ttc12 |
T |
A |
9: 49,356,499 (GRCm39) |
T510S |
probably benign |
Het |
Ubqln1 |
T |
C |
13: 58,339,895 (GRCm39) |
E280G |
probably damaging |
Het |
Urm1 |
T |
C |
2: 29,731,437 (GRCm39) |
W44R |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,933,406 (GRCm39) |
I34N |
probably benign |
Het |
Vars1 |
T |
C |
17: 35,233,728 (GRCm39) |
L1018P |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,869,894 (GRCm39) |
V206D |
probably damaging |
Het |
Vim |
T |
C |
2: 13,583,270 (GRCm39) |
V224A |
probably damaging |
Het |
Vmn2r106 |
G |
T |
17: 20,498,997 (GRCm39) |
H305N |
probably benign |
Het |
Vmn2r78 |
A |
G |
7: 86,604,132 (GRCm39) |
N770S |
probably damaging |
Het |
Wdr33 |
T |
A |
18: 32,029,684 (GRCm39) |
L961Q |
unknown |
Het |
Xylt2 |
A |
G |
11: 94,559,575 (GRCm39) |
S356P |
possibly damaging |
Het |
Zbtb14 |
A |
G |
17: 69,694,575 (GRCm39) |
N91S |
probably damaging |
Het |
Zc3h6 |
T |
C |
2: 128,858,654 (GRCm39) |
L895S |
probably damaging |
Het |
Zc3h7b |
C |
T |
15: 81,661,289 (GRCm39) |
P376L |
probably benign |
Het |
Zfp131 |
T |
C |
13: 120,228,079 (GRCm39) |
T523A |
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 |
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 |
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'- TGACAGATTGAACAGGTGCATGGAC -3'
(R):5'- CCAGACCCATTCTTTTCGGTGCAG -3'
Sequencing Primer
(F):5'- TTGAAACAGGTGCCGAAACTTC -3'
(R):5'- CTGGCTCAATAAAACTTGGCTCC -3'
|
Posted On |
2014-05-14 |