Incidental Mutation 'R9090:Rims1'
ID |
690856 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rims1
|
Ensembl Gene |
ENSMUSG00000041670 |
Gene Name |
regulating synaptic membrane exocytosis 1 |
Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.675)
|
Stock # |
R9090 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 22498773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 57
(H57L)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081544]
[ENSMUST00000097809]
[ENSMUST00000097810]
[ENSMUST00000097811]
[ENSMUST00000115273]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081544
AA Change: H753L
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000080259 Gene: ENSMUSG00000041670 AA Change: H753L
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: H753L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095418 Gene: ENSMUSG00000041670 AA Change: H753L
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: H753L
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000095419 Gene: ENSMUSG00000041670 AA Change: H753L
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: H753L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095420 Gene: ENSMUSG00000041670 AA Change: H753L
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: H753L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000110928 Gene: ENSMUSG00000041670 AA Change: H753L
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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 106 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
T |
11: 119,901,940 (GRCm39) |
S819T |
probably damaging |
Het |
Abca13 |
A |
T |
11: 9,241,698 (GRCm39) |
D1187V |
probably damaging |
Het |
Ak9 |
C |
A |
10: 41,300,623 (GRCm39) |
T1611K |
unknown |
Het |
Als2 |
G |
T |
1: 59,242,189 (GRCm39) |
T622K |
probably benign |
Het |
Ankrd40 |
G |
A |
11: 94,225,262 (GRCm39) |
A98T |
probably benign |
Het |
Ap1b1 |
T |
C |
11: 4,973,174 (GRCm39) |
L339P |
probably damaging |
Het |
Appl1 |
A |
C |
14: 26,669,084 (GRCm39) |
H363Q |
probably benign |
Het |
Atf6 |
T |
C |
1: 170,622,245 (GRCm39) |
N459D |
probably damaging |
Het |
Ccdc6 |
A |
T |
10: 70,024,993 (GRCm39) |
Q432L |
unknown |
Het |
Ccl21a |
T |
A |
4: 42,773,486 (GRCm39) |
Q84L |
probably damaging |
Het |
Cct4 |
A |
G |
11: 22,951,389 (GRCm39) |
I348V |
probably benign |
Het |
Cd300ld2 |
A |
G |
11: 114,904,550 (GRCm39) |
Y106H |
probably damaging |
Het |
Cdh19 |
C |
T |
1: 110,876,947 (GRCm39) |
E131K |
probably damaging |
Het |
Cdon |
A |
G |
9: 35,403,175 (GRCm39) |
D1095G |
probably damaging |
Het |
Cep85l |
T |
A |
10: 53,157,670 (GRCm39) |
R678* |
probably null |
Het |
Chst3 |
T |
A |
10: 60,021,465 (GRCm39) |
S461C |
probably damaging |
Het |
Clk1 |
A |
G |
1: 58,459,312 (GRCm39) |
I149T |
possibly damaging |
Het |
Clvs2 |
T |
A |
10: 33,389,301 (GRCm39) |
D313V |
possibly damaging |
Het |
Dap3 |
T |
C |
3: 88,840,913 (GRCm39) |
T75A |
probably benign |
Het |
Dnaaf1 |
T |
A |
8: 120,324,392 (GRCm39) |
F631L |
probably benign |
Het |
Dnah14 |
A |
T |
1: 181,597,325 (GRCm39) |
N3549I |
probably benign |
Het |
Dnah17 |
A |
T |
11: 117,931,870 (GRCm39) |
Y3701N |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,752,796 (GRCm39) |
V339A |
possibly damaging |
Het |
Dpp6 |
T |
A |
5: 27,803,832 (GRCm39) |
C259* |
probably null |
Het |
Dqx1 |
A |
G |
6: 83,036,024 (GRCm39) |
T119A |
probably benign |
Het |
Dync1h1 |
G |
T |
12: 110,583,310 (GRCm39) |
R469L |
probably benign |
Het |
Eno4 |
C |
T |
19: 58,951,260 (GRCm39) |
A424V |
probably benign |
Het |
Entrep1 |
A |
T |
19: 23,972,221 (GRCm39) |
I161N |
possibly damaging |
Het |
Fads1 |
T |
A |
19: 10,163,162 (GRCm39) |
D146E |
probably damaging |
Het |
Fam171a1 |
C |
T |
2: 3,224,543 (GRCm39) |
T303M |
probably damaging |
Het |
Fbxw20 |
C |
T |
9: 109,050,423 (GRCm39) |
D401N |
probably benign |
Het |
Fcho1 |
T |
A |
8: 72,163,068 (GRCm39) |
T654S |
possibly damaging |
Het |
Flad1 |
C |
A |
3: 89,315,858 (GRCm39) |
E235* |
probably null |
Het |
Flrt2 |
G |
T |
12: 95,745,907 (GRCm39) |
A82S |
probably benign |
Het |
Gabrg3 |
A |
T |
7: 56,829,386 (GRCm39) |
S124T |
probably benign |
Het |
Galt |
C |
T |
4: 41,756,777 (GRCm39) |
T139I |
probably benign |
Het |
Garin4 |
A |
G |
1: 190,895,153 (GRCm39) |
S497P |
probably damaging |
Het |
Gfod1 |
T |
C |
13: 43,456,861 (GRCm39) |
E38G |
possibly damaging |
Het |
Gm10330 |
A |
G |
12: 23,829,992 (GRCm39) |
I63T |
possibly damaging |
Het |
Gm49359 |
A |
G |
13: 62,602,867 (GRCm39) |
V111A |
probably benign |
Het |
Gpank1 |
C |
T |
17: 35,340,734 (GRCm39) |
|
probably benign |
Het |
Hck |
T |
C |
2: 152,973,185 (GRCm39) |
L156P |
probably damaging |
Het |
Hcn3 |
G |
T |
3: 89,057,267 (GRCm39) |
R444S |
probably damaging |
Het |
Hephl1 |
T |
C |
9: 14,988,236 (GRCm39) |
N624S |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,632,309 (GRCm39) |
I876T |
probably damaging |
Het |
Ifi207 |
CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG |
CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG |
1: 173,556,762 (GRCm39) |
|
probably benign |
Het |
Itga9 |
T |
A |
9: 118,500,859 (GRCm39) |
D377E |
possibly damaging |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Itprid1 |
G |
T |
6: 55,944,051 (GRCm39) |
R417L |
probably benign |
Het |
Klk1b11 |
C |
T |
7: 43,425,954 (GRCm39) |
L32F |
probably benign |
Het |
Lta4h |
A |
G |
10: 93,310,412 (GRCm39) |
S427G |
probably benign |
Het |
Lxn |
T |
A |
3: 67,368,651 (GRCm39) |
I122F |
probably damaging |
Het |
Lyz1 |
A |
G |
10: 117,124,492 (GRCm39) |
V148A |
possibly damaging |
Het |
Mael |
G |
T |
1: 166,032,424 (GRCm39) |
Q326K |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,923,264 (GRCm39) |
D1151G |
possibly damaging |
Het |
Map3k9 |
C |
A |
12: 81,769,261 (GRCm39) |
G929V |
probably benign |
Het |
Mcoln1 |
A |
G |
8: 3,555,771 (GRCm39) |
Y22C |
probably damaging |
Het |
Mier3 |
G |
T |
13: 111,827,870 (GRCm39) |
M45I |
probably benign |
Het |
Mrpl1 |
T |
C |
5: 96,371,746 (GRCm39) |
V91A |
probably damaging |
Het |
Myo7a |
T |
C |
7: 97,740,281 (GRCm39) |
H571R |
probably benign |
Het |
Myom1 |
T |
A |
17: 71,374,325 (GRCm39) |
W601R |
probably damaging |
Het |
Myom3 |
C |
T |
4: 135,505,479 (GRCm39) |
T456I |
probably benign |
Het |
Nags |
A |
T |
11: 102,037,584 (GRCm39) |
H225L |
probably benign |
Het |
Ncaph |
C |
A |
2: 126,958,554 (GRCm39) |
K488N |
probably damaging |
Het |
Nkain3 |
C |
T |
4: 20,484,897 (GRCm39) |
R60H |
probably damaging |
Het |
Nlrp9a |
A |
T |
7: 26,261,944 (GRCm39) |
M698L |
probably benign |
Het |
Nmur2 |
A |
C |
11: 55,931,308 (GRCm39) |
I134M |
probably benign |
Het |
Nrp2 |
A |
C |
1: 62,784,670 (GRCm39) |
E273A |
probably benign |
Het |
Nup85 |
A |
G |
11: 115,468,787 (GRCm39) |
D210G |
possibly damaging |
Het |
Obscn |
A |
G |
11: 59,006,643 (GRCm39) |
F1173S |
probably damaging |
Het |
Or5ac24 |
A |
T |
16: 59,165,145 (GRCm39) |
C306* |
probably null |
Het |
Otogl |
T |
A |
10: 107,652,974 (GRCm39) |
E1126V |
probably null |
Het |
Pfkl |
T |
C |
10: 77,833,426 (GRCm39) |
I259V |
probably benign |
Het |
Phkg1 |
A |
T |
5: 129,893,863 (GRCm39) |
Y291N |
probably benign |
Het |
Piezo2 |
T |
G |
18: 63,163,450 (GRCm39) |
H2156P |
probably damaging |
Het |
Piezo2 |
C |
A |
18: 63,208,790 (GRCm39) |
V1408L |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,819,997 (GRCm39) |
E640V |
unknown |
Het |
Plekhg3 |
A |
G |
12: 76,622,694 (GRCm39) |
T646A |
probably benign |
Het |
Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
Ppp1r12a |
T |
C |
10: 108,098,224 (GRCm39) |
S838P |
probably damaging |
Het |
Rarb |
A |
T |
14: 16,435,235 (GRCm38) |
Y270* |
probably null |
Het |
Rbm15 |
T |
C |
3: 107,239,312 (GRCm39) |
E362G |
possibly damaging |
Het |
Rcan1 |
A |
G |
16: 92,262,741 (GRCm39) |
F76L |
|
Het |
Rdh19 |
T |
C |
10: 127,696,142 (GRCm39) |
L298P |
probably damaging |
Het |
Rlf |
T |
C |
4: 121,004,751 (GRCm39) |
T1520A |
probably benign |
Het |
Rnase1 |
T |
A |
14: 51,382,964 (GRCm39) |
H130L |
possibly damaging |
Het |
Samd8 |
T |
A |
14: 21,842,569 (GRCm39) |
M360K |
probably damaging |
Het |
Samhd1 |
A |
G |
2: 156,956,205 (GRCm39) |
L329P |
probably damaging |
Het |
Scube1 |
C |
T |
15: 83,494,394 (GRCm39) |
E878K |
probably damaging |
Het |
Sema3b |
T |
C |
9: 107,476,154 (GRCm39) |
Y689C |
probably damaging |
Het |
Semp2l2a |
T |
C |
8: 13,886,697 (GRCm39) |
T465A |
possibly damaging |
Het |
Sh3pxd2b |
A |
T |
11: 32,373,361 (GRCm39) |
N843Y |
possibly damaging |
Het |
Slco1a6 |
C |
T |
6: 142,035,575 (GRCm39) |
C583Y |
probably damaging |
Het |
Smg1 |
A |
C |
7: 117,811,786 (GRCm39) |
V88G |
unknown |
Het |
Spata24 |
T |
A |
18: 35,790,054 (GRCm39) |
N146Y |
probably damaging |
Het |
Tcf3 |
C |
A |
10: 80,253,191 (GRCm39) |
V258L |
probably benign |
Het |
Tiam2 |
T |
C |
17: 3,465,011 (GRCm39) |
Y247H |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,310,604 (GRCm39) |
F173L |
possibly damaging |
Het |
Tpp2 |
A |
G |
1: 43,993,811 (GRCm39) |
E232G |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,174,547 (GRCm39) |
V138E |
probably damaging |
Het |
Ttll3 |
T |
C |
6: 113,369,596 (GRCm39) |
S47P |
probably benign |
Het |
Utp4 |
C |
T |
8: 107,632,857 (GRCm39) |
T280M |
probably damaging |
Het |
Vmn1r123 |
A |
T |
7: 20,896,794 (GRCm39) |
N229Y |
probably benign |
Het |
Vmn1r85 |
A |
T |
7: 12,818,942 (GRCm39) |
Y67* |
probably null |
Het |
Zbtb12 |
T |
A |
17: 35,114,320 (GRCm39) |
V35E |
possibly damaging |
Het |
Zmym6 |
T |
A |
4: 127,017,854 (GRCm39) |
F1212I |
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 |
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 |
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'- GCAAGGGTTCTGCTAACTAATGG -3'
(R):5'- ATGGCACCCAACATTAGCAG -3'
Sequencing Primer
(F):5'- TGGCAAATGGCTTCTAACCATC -3'
(R):5'- CATTAGCAGGTCAATGGCTGC -3'
|
Posted On |
2021-12-30 |