Incidental Mutation 'IGL01548:Rims1'
| ID |
93200 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rims1
|
| Ensembl Gene |
ENSMUSG00000041670 |
| Gene Name |
regulating synaptic membrane exocytosis 1 |
| Synonyms |
RIM1a, RIM1, RIM1alpha, C030033M19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.637)
|
| Stock # |
IGL01548
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
22286251-22805994 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22538602 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 188
(C188R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081544]
[ENSMUST00000097808]
[ENSMUST00000097809]
[ENSMUST00000097810]
[ENSMUST00000097811]
[ENSMUST00000115273]
[ENSMUST00000218140]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081544
AA Change: C188R
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: C188R
| 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: ENSMUST00000097808
AA Change: C188R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095417
Gene: ENSMUSG00000041670
AA Change: C188R
| 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 damaging
Transcript: ENSMUST00000097809
AA Change: C188R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: C188R
| 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
AA Change: C188R
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: C188R
| 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
AA Change: C188R
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: C188R
| 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
AA Change: C188R
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: C188R
| 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: ENSMUST00000218140
AA Change: C188R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402H24Rik |
T |
C |
2: 130,814,259 (GRCm38) |
N110D |
probably damaging |
Het |
| Acot3 |
C |
T |
12: 84,057,089 (GRCm38) |
T224I |
probably benign |
Het |
| Adamts18 |
C |
T |
8: 113,764,299 (GRCm38) |
G512E |
probably damaging |
Het |
| Atp4b |
A |
G |
8: 13,389,679 (GRCm38) |
I181T |
probably damaging |
Het |
| Bcl11a |
A |
G |
11: 24,163,346 (GRCm38) |
I230V |
probably benign |
Het |
| Cenpj |
C |
A |
14: 56,532,319 (GRCm38) |
V1138L |
probably benign |
Het |
| Cep78 |
A |
G |
19: 15,981,200 (GRCm38) |
|
probably benign |
Het |
| Clec2j |
T |
A |
6: 128,655,978 (GRCm38) |
|
noncoding transcript |
Het |
| Col5a3 |
T |
C |
9: 20,803,000 (GRCm38) |
|
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,512,726 (GRCm38) |
T105S |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,288,646 (GRCm38) |
Y482* |
probably null |
Het |
| Ctrl |
C |
A |
8: 105,933,258 (GRCm38) |
|
probably benign |
Het |
| Dhcr24 |
T |
A |
4: 106,573,871 (GRCm38) |
C252* |
probably null |
Het |
| Dnah17 |
G |
A |
11: 118,098,612 (GRCm38) |
P1261S |
probably benign |
Het |
| Dnaic2 |
T |
C |
11: 114,752,942 (GRCm38) |
L466P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,071,922 (GRCm38) |
F3036Y |
probably damaging |
Het |
| Eef1akmt2 |
A |
C |
7: 132,831,405 (GRCm38) |
S191A |
probably damaging |
Het |
| Fam205c |
T |
C |
4: 42,868,564 (GRCm38) |
E353G |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,887,758 (GRCm38) |
S267P |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,009,257 (GRCm38) |
C4454Y |
probably damaging |
Het |
| Frrs1 |
T |
C |
3: 116,885,185 (GRCm38) |
C219R |
probably damaging |
Het |
| Gabra6 |
T |
A |
11: 42,317,023 (GRCm38) |
Q207L |
probably damaging |
Het |
| Gm19668 |
A |
T |
10: 77,798,408 (GRCm38) |
C242* |
probably null |
Het |
| Gm2840 |
G |
A |
5: 96,174,277 (GRCm38) |
|
noncoding transcript |
Het |
| Gm6614 |
A |
G |
6: 141,992,512 (GRCm38) |
I227T |
possibly damaging |
Het |
| Gm8765 |
A |
G |
13: 50,700,378 (GRCm38) |
T91A |
probably benign |
Het |
| Gmcl1p1 |
G |
A |
X: 3,078,226 (GRCm38) |
G423S |
probably benign |
Het |
| Golim4 |
C |
T |
3: 75,908,125 (GRCm38) |
|
probably null |
Het |
| Gucy1b1 |
G |
T |
3: 82,034,862 (GRCm38) |
T530K |
probably damaging |
Het |
| Hacl1 |
A |
T |
14: 31,640,596 (GRCm38) |
D31E |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,364,660 (GRCm38) |
T4276A |
possibly damaging |
Het |
| Henmt1 |
T |
C |
3: 108,942,779 (GRCm38) |
I26T |
probably damaging |
Het |
| Hspa1l |
G |
A |
17: 34,978,391 (GRCm38) |
A469T |
probably damaging |
Het |
| Htra3 |
T |
A |
5: 35,664,076 (GRCm38) |
|
probably null |
Het |
| Lrrc28 |
C |
A |
7: 67,628,294 (GRCm38) |
|
probably null |
Het |
| Mfhas1 |
T |
C |
8: 35,590,459 (GRCm38) |
L696P |
probably damaging |
Het |
| Mios |
A |
G |
6: 8,234,252 (GRCm38) |
K808E |
possibly damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,863,200 (GRCm38) |
Y188H |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,101,220 (GRCm38) |
|
probably benign |
Het |
| Naca |
A |
T |
10: 128,040,904 (GRCm38) |
|
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,462,720 (GRCm38) |
V213D |
probably benign |
Het |
| Ndufa6 |
C |
T |
15: 82,354,081 (GRCm38) |
V50M |
possibly damaging |
Het |
| Olfr1000 |
A |
G |
2: 85,608,761 (GRCm38) |
W50R |
probably benign |
Het |
| Olfr1055 |
T |
A |
2: 86,347,733 (GRCm38) |
Y11F |
possibly damaging |
Het |
| Olfr1260 |
T |
A |
2: 89,978,539 (GRCm38) |
F254I |
possibly damaging |
Het |
| Olfr1465 |
A |
G |
19: 13,313,986 (GRCm38) |
F100L |
possibly damaging |
Het |
| Olfr923 |
A |
G |
9: 38,828,350 (GRCm38) |
T220A |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,763,575 (GRCm38) |
Y311C |
probably damaging |
Het |
| Parp11 |
A |
C |
6: 127,491,599 (GRCm38) |
Y204S |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,932,656 (GRCm38) |
|
probably null |
Het |
| Plec |
T |
C |
15: 76,189,258 (GRCm38) |
R519G |
probably benign |
Het |
| Ppp2r5c |
T |
A |
12: 110,567,827 (GRCm38) |
Y375N |
probably benign |
Het |
| Prss35 |
C |
A |
9: 86,755,274 (GRCm38) |
S32R |
probably benign |
Het |
| Prss57 |
C |
T |
10: 79,785,747 (GRCm38) |
|
probably benign |
Het |
| Ptprc |
A |
C |
1: 138,099,481 (GRCm38) |
|
probably null |
Het |
| Ripk4 |
G |
T |
16: 97,751,496 (GRCm38) |
Y144* |
probably null |
Het |
| Rpgrip1 |
A |
T |
14: 52,126,271 (GRCm38) |
|
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,832,323 (GRCm38) |
V378A |
probably benign |
Het |
| Rtf1 |
A |
G |
2: 119,712,108 (GRCm38) |
K298E |
probably benign |
Het |
| Sdk1 |
T |
C |
5: 142,085,765 (GRCm38) |
F1237L |
possibly damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,909,492 (GRCm38) |
K543E |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,794,168 (GRCm38) |
I1041F |
possibly damaging |
Het |
| Taok3 |
T |
C |
5: 117,272,197 (GRCm38) |
M818T |
probably benign |
Het |
| Tas2r119 |
T |
A |
15: 32,177,977 (GRCm38) |
F230I |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,381,304 (GRCm38) |
D716G |
probably damaging |
Het |
| Tfg |
A |
G |
16: 56,701,102 (GRCm38) |
S58P |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,213,132 (GRCm38) |
I45V |
probably damaging |
Het |
| Tle1 |
A |
G |
4: 72,170,718 (GRCm38) |
L96P |
probably damaging |
Het |
| Tmem260 |
A |
C |
14: 48,480,325 (GRCm38) |
S276R |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,764,781 (GRCm38) |
S24P |
probably damaging |
Het |
| Vcam1 |
T |
C |
3: 116,115,951 (GRCm38) |
I576V |
probably benign |
Het |
| Vmn1r27 |
G |
T |
6: 58,215,553 (GRCm38) |
N105K |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,093,027 (GRCm38) |
Y73* |
probably null |
Het |
| Vmn2r86 |
T |
C |
10: 130,446,282 (GRCm38) |
I822V |
probably benign |
Het |
| Wdr6 |
C |
T |
9: 108,574,897 (GRCm38) |
V596I |
possibly damaging |
Het |
| Zfp946 |
A |
T |
17: 22,454,662 (GRCm38) |
K132N |
possibly damaging |
Het |
|
| Other mutations in Rims1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Rims1
|
APN |
1 |
22,468,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00535:Rims1
|
APN |
1 |
22,432,921 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01021:Rims1
|
APN |
1 |
22,486,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01106:Rims1
|
APN |
1 |
22,379,447 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01128:Rims1
|
APN |
1 |
22,534,175 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01688:Rims1
|
APN |
1 |
22,397,540 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL02089:Rims1
|
APN |
1 |
22,630,475 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02245:Rims1
|
APN |
1 |
22,346,488 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02355:Rims1
|
APN |
1 |
22,483,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02362:Rims1
|
APN |
1 |
22,483,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02682:Rims1
|
APN |
1 |
22,288,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03006:Rims1
|
APN |
1 |
22,296,954 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03054:Rims1
|
UTSW |
1 |
22,290,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Rims1
|
UTSW |
1 |
22,397,460 (GRCm38) |
missense |
|
|
|
R0031:Rims1
|
UTSW |
1 |
22,296,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0118:Rims1
|
UTSW |
1 |
22,346,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0390:Rims1
|
UTSW |
1 |
22,596,526 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0483:Rims1
|
UTSW |
1 |
22,468,182 (GRCm38) |
splice site |
probably benign |
|
|
R0744:Rims1
|
UTSW |
1 |
22,427,459 (GRCm38) |
splice site |
probably null |
|
|
R0836:Rims1
|
UTSW |
1 |
22,427,459 (GRCm38) |
splice site |
probably null |
|
|
R1218:Rims1
|
UTSW |
1 |
22,483,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1228:Rims1
|
UTSW |
1 |
22,472,756 (GRCm38) |
missense |
probably null |
1.00 |
|
R1374:Rims1
|
UTSW |
1 |
22,296,948 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1474:Rims1
|
UTSW |
1 |
22,538,281 (GRCm38) |
splice site |
probably benign |
|
|
R1652:Rims1
|
UTSW |
1 |
22,292,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1712:Rims1
|
UTSW |
1 |
22,296,948 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1730:Rims1
|
UTSW |
1 |
22,346,529 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1783:Rims1
|
UTSW |
1 |
22,346,529 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1861:Rims1
|
UTSW |
1 |
22,596,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1899:Rims1
|
UTSW |
1 |
22,428,474 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1937:Rims1
|
UTSW |
1 |
22,288,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2010:Rims1
|
UTSW |
1 |
22,296,996 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2049:Rims1
|
UTSW |
1 |
22,596,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2124:Rims1
|
UTSW |
1 |
22,404,508 (GRCm38) |
nonsense |
probably null |
|
|
R2860:Rims1
|
UTSW |
1 |
22,432,976 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2861:Rims1
|
UTSW |
1 |
22,432,976 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2914:Rims1
|
UTSW |
1 |
22,805,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3740:Rims1
|
UTSW |
1 |
22,373,443 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3741:Rims1
|
UTSW |
1 |
22,373,443 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3773:Rims1
|
UTSW |
1 |
22,421,810 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3874:Rims1
|
UTSW |
1 |
22,428,489 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3901:Rims1
|
UTSW |
1 |
22,533,497 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3964:Rims1
|
UTSW |
1 |
22,427,459 (GRCm38) |
splice site |
probably null |
|
|
R4037:Rims1
|
UTSW |
1 |
22,475,712 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4039:Rims1
|
UTSW |
1 |
22,475,712 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4056:Rims1
|
UTSW |
1 |
22,292,939 (GRCm38) |
splice site |
probably benign |
|
|
R4062:Rims1
|
UTSW |
1 |
22,533,583 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4552:Rims1
|
UTSW |
1 |
22,373,494 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4658:Rims1
|
UTSW |
1 |
22,427,543 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4688:Rims1
|
UTSW |
1 |
22,479,447 (GRCm38) |
nonsense |
probably null |
|
|
R4696:Rims1
|
UTSW |
1 |
22,288,612 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4720:Rims1
|
UTSW |
1 |
22,427,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4764:Rims1
|
UTSW |
1 |
22,479,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4780:Rims1
|
UTSW |
1 |
22,291,105 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4931:Rims1
|
UTSW |
1 |
22,533,947 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5137:Rims1
|
UTSW |
1 |
22,288,620 (GRCm38) |
nonsense |
probably null |
|
|
R5153:Rims1
|
UTSW |
1 |
22,483,247 (GRCm38) |
nonsense |
probably null |
|
|
R5305:Rims1
|
UTSW |
1 |
22,596,542 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5354:Rims1
|
UTSW |
1 |
22,538,511 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5386:Rims1
|
UTSW |
1 |
22,412,245 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5485:Rims1
|
UTSW |
1 |
22,483,208 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5643:Rims1
|
UTSW |
1 |
22,538,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5929:Rims1
|
UTSW |
1 |
22,468,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5988:Rims1
|
UTSW |
1 |
22,596,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6160:Rims1
|
UTSW |
1 |
22,432,984 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6579:Rims1
|
UTSW |
1 |
22,425,916 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6790:Rims1
|
UTSW |
1 |
22,468,197 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7048:Rims1
|
UTSW |
1 |
22,472,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7100:Rims1
|
UTSW |
1 |
22,346,473 (GRCm38) |
missense |
probably benign |
0.27 |
|
R7155:Rims1
|
UTSW |
1 |
22,432,923 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7171:Rims1
|
UTSW |
1 |
22,428,489 (GRCm38) |
missense |
|
|
|
R7448:Rims1
|
UTSW |
1 |
22,404,475 (GRCm38) |
missense |
|
|
|
R7505:Rims1
|
UTSW |
1 |
22,533,996 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R7567:Rims1
|
UTSW |
1 |
22,468,210 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7639:Rims1
|
UTSW |
1 |
22,805,669 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7955:Rims1
|
UTSW |
1 |
22,468,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8005:Rims1
|
UTSW |
1 |
22,412,213 (GRCm38) |
missense |
|
|
|
R8071:Rims1
|
UTSW |
1 |
22,288,536 (GRCm38) |
nonsense |
probably null |
|
|
R8465:Rims1
|
UTSW |
1 |
22,428,480 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8517:Rims1
|
UTSW |
1 |
22,483,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8703:Rims1
|
UTSW |
1 |
22,425,887 (GRCm38) |
missense |
|
|
|
R8726:Rims1
|
UTSW |
1 |
22,594,100 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9090:Rims1
|
UTSW |
1 |
22,428,522 (GRCm38) |
missense |
|
|
|
R9179:Rims1
|
UTSW |
1 |
22,412,266 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9271:Rims1
|
UTSW |
1 |
22,428,522 (GRCm38) |
missense |
|
|
|
R9291:Rims1
|
UTSW |
1 |
22,397,522 (GRCm38) |
missense |
|
|
|
R9394:Rims1
|
UTSW |
1 |
22,472,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9578:Rims1
|
UTSW |
1 |
22,484,742 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9614:Rims1
|
UTSW |
1 |
22,421,745 (GRCm38) |
nonsense |
probably null |
|
|
R9726:Rims1
|
UTSW |
1 |
22,630,412 (GRCm38) |
missense |
probably null |
0.21 |
|
Z1088:Rims1
|
UTSW |
1 |
22,288,586 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Rims1
|
UTSW |
1 |
22,484,671 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Rims1
|
UTSW |
1 |
22,472,777 (GRCm38) |
missense |
probably benign |
0.44 |
|
Z1177:Rims1
|
UTSW |
1 |
22,468,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Rims1
|
UTSW |
1 |
22,296,939 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
Z1177:Rims1
|
UTSW |
1 |
22,472,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1186:Rims1
|
UTSW |
1 |
22,379,482 (GRCm38) |
missense |
|
|
|
| Posted On |
2013-12-09 |
Incidental Mutation