Incidental Mutation 'R0744:Rims1'
| ID |
70811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims1
|
| Ensembl Gene |
ENSMUSG00000041670 |
| Gene Name |
regulating synaptic membrane exocytosis 1 |
| Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
| MMRRC Submission |
038925-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.671)
|
| Stock # |
R0744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 22497709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081544]
[ENSMUST00000097809]
[ENSMUST00000097810]
[ENSMUST00000097811]
[ENSMUST00000115273]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185942
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
98% (91/93) |
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,000,931 (GRCm39) |
L41P |
probably damaging |
Het |
| A930003A15Rik |
T |
C |
16: 19,702,622 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
A |
T |
11: 109,931,390 (GRCm39) |
D1253E |
possibly damaging |
Het |
| Acsm3 |
T |
C |
7: 119,376,323 (GRCm39) |
I350T |
possibly damaging |
Het |
| Adcy9 |
T |
C |
16: 4,237,135 (GRCm39) |
D92G |
possibly damaging |
Het |
| Aebp2 |
T |
G |
6: 140,588,090 (GRCm39) |
|
probably null |
Het |
| AI987944 |
T |
C |
7: 41,026,283 (GRCm39) |
Y6C |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,721,762 (GRCm39) |
W2072R |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,649,097 (GRCm39) |
D362G |
probably damaging |
Het |
| Baiap2l1 |
T |
A |
5: 144,203,451 (GRCm39) |
D479V |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,172,333 (GRCm39) |
H2094Q |
probably benign |
Het |
| Bptf |
C |
A |
11: 107,001,638 (GRCm39) |
|
probably null |
Het |
| Camk4 |
G |
T |
18: 33,072,507 (GRCm39) |
S20I |
unknown |
Het |
| Ccdc85a |
T |
A |
11: 28,533,296 (GRCm39) |
I83F |
probably damaging |
Het |
| Ccnt2 |
T |
A |
1: 127,730,131 (GRCm39) |
M336K |
probably benign |
Het |
| Cd209e |
G |
T |
8: 3,903,205 (GRCm39) |
D62E |
probably benign |
Het |
| Cd226 |
A |
C |
18: 89,225,144 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,768,784 (GRCm39) |
D605G |
probably benign |
Het |
| Crtc1 |
A |
G |
8: 70,845,663 (GRCm39) |
V306A |
probably benign |
Het |
| D130043K22Rik |
G |
A |
13: 25,047,563 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,966,215 (GRCm39) |
V20A |
probably damaging |
Het |
| Dzip3 |
A |
G |
16: 48,780,038 (GRCm39) |
Y301H |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,363,929 (GRCm39) |
N600K |
probably damaging |
Het |
| Erich6 |
T |
A |
3: 58,543,543 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,156,734 (GRCm39) |
|
probably benign |
Het |
| Fryl |
A |
T |
5: 73,246,424 (GRCm39) |
|
probably benign |
Het |
| Galnt17 |
T |
A |
5: 131,179,754 (GRCm39) |
D131V |
probably damaging |
Het |
| Gm6619 |
T |
A |
6: 131,467,297 (GRCm39) |
L54Q |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,855,784 (GRCm39) |
|
probably benign |
Het |
| Hic1 |
T |
A |
11: 75,056,627 (GRCm39) |
Q754L |
possibly damaging |
Het |
| Hnf4g |
A |
T |
3: 3,716,689 (GRCm39) |
D286V |
possibly damaging |
Het |
| Iho1 |
A |
T |
9: 108,282,000 (GRCm39) |
C563S |
probably benign |
Het |
| Itgb5 |
A |
G |
16: 33,720,953 (GRCm39) |
K339R |
probably damaging |
Het |
| Itih1 |
A |
T |
14: 30,663,512 (GRCm39) |
V164E |
probably damaging |
Het |
| Jak3 |
A |
C |
8: 72,136,622 (GRCm39) |
N643T |
probably damaging |
Het |
| Lamp1 |
T |
A |
8: 13,222,654 (GRCm39) |
F279L |
probably damaging |
Het |
| Lrfn5 |
A |
C |
12: 61,886,454 (GRCm39) |
T81P |
probably damaging |
Het |
| Lrrc58 |
A |
G |
16: 37,698,935 (GRCm39) |
|
probably benign |
Het |
| Marchf6 |
T |
C |
15: 31,480,437 (GRCm39) |
Y562C |
probably benign |
Het |
| Mark1 |
T |
A |
1: 184,653,805 (GRCm39) |
I166F |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,263,189 (GRCm39) |
Y193H |
probably damaging |
Het |
| Mast4 |
C |
G |
13: 102,873,895 (GRCm39) |
Q1632H |
probably damaging |
Het |
| Mcrs1 |
T |
C |
15: 99,141,330 (GRCm39) |
|
probably benign |
Het |
| Mgst3 |
A |
G |
1: 167,201,374 (GRCm39) |
Y104H |
probably damaging |
Het |
| Mlxipl |
C |
T |
5: 135,161,329 (GRCm39) |
T416I |
possibly damaging |
Het |
| Mthfd2l |
T |
C |
5: 91,094,801 (GRCm39) |
V90A |
probably damaging |
Het |
| Mtnr1a |
A |
T |
8: 45,540,974 (GRCm39) |
I312F |
probably benign |
Het |
| Muc1 |
C |
A |
3: 89,137,635 (GRCm39) |
P159Q |
possibly damaging |
Het |
| Myom2 |
A |
T |
8: 15,182,924 (GRCm39) |
K1454* |
probably null |
Het |
| Myt1 |
TGAGGAGGAGGAGGAGGAGG |
TGAGGAGGAGGAGGAGG |
2: 181,439,298 (GRCm39) |
|
probably benign |
Het |
| Or10g3b |
T |
C |
14: 52,586,835 (GRCm39) |
I223V |
probably benign |
Het |
| Or2t29 |
T |
A |
11: 58,433,988 (GRCm39) |
M105L |
possibly damaging |
Het |
| Or52ae9 |
T |
C |
7: 103,390,132 (GRCm39) |
H105R |
probably damaging |
Het |
| Or56b1b |
T |
C |
7: 108,164,205 (GRCm39) |
T266A |
possibly damaging |
Het |
| Or8b1c |
A |
T |
9: 38,384,081 (GRCm39) |
I13F |
probably benign |
Het |
| Pdcd6 |
A |
G |
13: 74,464,443 (GRCm39) |
|
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Pramel23 |
A |
T |
4: 143,425,056 (GRCm39) |
M129K |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,493,158 (GRCm39) |
|
probably benign |
Het |
| Rab27b |
T |
C |
18: 70,120,112 (GRCm39) |
|
probably benign |
Het |
| Rapgef3 |
G |
A |
15: 97,659,466 (GRCm39) |
|
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,867,153 (GRCm39) |
Y152H |
probably damaging |
Het |
| Rgs11 |
T |
A |
17: 26,422,292 (GRCm39) |
M29K |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,793,759 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,372,725 (GRCm39) |
E1512G |
possibly damaging |
Het |
| Sgsm1 |
C |
T |
5: 113,427,050 (GRCm39) |
A127T |
probably benign |
Het |
| Slc22a28 |
T |
C |
19: 8,094,197 (GRCm39) |
Y245C |
possibly damaging |
Het |
| Slc25a1 |
T |
A |
16: 17,745,300 (GRCm39) |
H78L |
probably benign |
Het |
| Slc26a1 |
T |
A |
5: 108,821,389 (GRCm39) |
T167S |
probably benign |
Het |
| Slc2a12 |
T |
C |
10: 22,577,915 (GRCm39) |
|
probably benign |
Het |
| Slc44a5 |
T |
C |
3: 153,971,111 (GRCm39) |
S654P |
probably damaging |
Het |
| Slc51a |
T |
A |
16: 32,294,667 (GRCm39) |
T306S |
probably benign |
Het |
| Slc6a13 |
T |
G |
6: 121,279,826 (GRCm39) |
W67G |
probably damaging |
Het |
| Sowahc |
GGGAGGAGGAGGAGGAGGAGGAGGAGGA |
GGGAGGAGGAGGAGGAGGAGGAGGA |
10: 59,059,313 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
A |
T |
1: 85,627,465 (GRCm39) |
I86L |
probably damaging |
Het |
| Spata31e5 |
A |
G |
1: 28,816,902 (GRCm39) |
S377P |
possibly damaging |
Het |
| Supt20 |
T |
A |
3: 54,622,122 (GRCm39) |
Y409N |
probably damaging |
Het |
| Synrg |
C |
T |
11: 83,915,131 (GRCm39) |
Q1046* |
probably null |
Het |
| Tab2 |
T |
C |
10: 7,783,345 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,978,904 (GRCm39) |
D48G |
probably damaging |
Het |
| Tex24 |
A |
T |
8: 27,834,748 (GRCm39) |
H92L |
possibly damaging |
Het |
| Tgm6 |
T |
C |
2: 129,993,681 (GRCm39) |
V640A |
probably benign |
Het |
| Tle2 |
T |
C |
10: 81,424,781 (GRCm39) |
F667L |
probably damaging |
Het |
| Tnfaip3 |
C |
A |
10: 18,878,697 (GRCm39) |
A704S |
probably benign |
Het |
| Tomm34 |
T |
C |
2: 163,912,896 (GRCm39) |
N22D |
probably benign |
Het |
| Trabd2b |
A |
G |
4: 114,437,519 (GRCm39) |
Q232R |
probably benign |
Het |
| Trim62 |
A |
G |
4: 128,778,008 (GRCm39) |
S16G |
probably damaging |
Het |
| Ttc28 |
T |
A |
5: 111,378,947 (GRCm39) |
I1144N |
probably damaging |
Het |
| Unc5a |
C |
A |
13: 55,151,746 (GRCm39) |
N56K |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,546,603 (GRCm39) |
|
probably benign |
Het |
| Wrn |
A |
G |
8: 33,785,034 (GRCm39) |
I446T |
possibly damaging |
Het |
| Zbed5 |
T |
A |
5: 129,931,113 (GRCm39) |
V354E |
possibly damaging |
Het |
| Zfp266 |
G |
A |
9: 20,411,095 (GRCm39) |
H361Y |
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 |
|
|
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'- TGCGGTAGAAATGTCCTTGCAGAAG -3'
(R):5'- AATCCAGGCCATGTGTTAGCCAG -3'
Sequencing Primer
(F):5'- TGTCCTTGCAGAAGAGCATTACC -3'
(R):5'- TTGTTTGGGGAAAACAACATGC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation