Incidental Mutation 'R4720:Rims1'
| ID |
354334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims1
|
| Ensembl Gene |
ENSMUSG00000041670 |
| Gene Name |
regulating synaptic membrane exocytosis 1 |
| Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
| MMRRC Submission |
041958-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.675)
|
| Stock # |
R4720 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22497731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 808
(Y808H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081544]
[ENSMUST00000097809]
[ENSMUST00000097810]
[ENSMUST00000097811]
[ENSMUST00000115273]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081544
AA Change: Y808H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: Y808H
| 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: ENSMUST00000097809
AA Change: Y808H
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: Y808H
| 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: Y808H
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: Y808H
| 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: Y808H
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: Y808H
| 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: Y808H
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: Y808H
| 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 |
unknown
Transcript: ENSMUST00000185942
AA Change: Y112H
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,018,248 (GRCm39) |
I1124T |
probably damaging |
Het |
| Acacb |
A |
G |
5: 114,367,975 (GRCm39) |
T1658A |
possibly damaging |
Het |
| Acvrl1 |
C |
A |
15: 101,033,654 (GRCm39) |
P112Q |
probably damaging |
Het |
| Ankar |
A |
T |
1: 72,738,170 (GRCm39) |
I4K |
possibly damaging |
Het |
| Ankfn1 |
G |
C |
11: 89,332,252 (GRCm39) |
D431E |
possibly damaging |
Het |
| Apobec4 |
T |
C |
1: 152,632,425 (GRCm39) |
V151A |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,093,949 (GRCm39) |
S498G |
probably benign |
Het |
| Azin1 |
A |
G |
15: 38,493,744 (GRCm39) |
V293A |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,835,083 (GRCm39) |
E46G |
probably damaging |
Het |
| Ccdc96 |
T |
C |
5: 36,642,219 (GRCm39) |
|
probably benign |
Het |
| Ccnyl1 |
A |
G |
1: 64,752,290 (GRCm39) |
D169G |
probably benign |
Het |
| Cdca3 |
T |
A |
6: 124,809,127 (GRCm39) |
V89E |
probably damaging |
Het |
| Cdh19 |
A |
T |
1: 110,823,111 (GRCm39) |
|
probably null |
Het |
| Chka |
G |
A |
19: 3,936,375 (GRCm39) |
V238I |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,218,983 (GRCm39) |
K546E |
possibly damaging |
Het |
| Crybg3 |
A |
G |
16: 59,360,180 (GRCm39) |
V787A |
probably damaging |
Het |
| Dlgap3 |
T |
C |
4: 127,089,508 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
C |
T |
17: 30,902,608 (GRCm39) |
L889F |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,967,184 (GRCm39) |
E1658G |
probably damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,052,996 (GRCm39) |
D102G |
probably damaging |
Het |
| Dync1i2 |
T |
G |
2: 71,064,018 (GRCm39) |
S121A |
probably damaging |
Het |
| Ece1 |
G |
A |
4: 137,684,486 (GRCm39) |
E591K |
probably damaging |
Het |
| Enthd1 |
G |
A |
15: 80,444,510 (GRCm39) |
S15L |
probably damaging |
Het |
| Epb41l2 |
T |
A |
10: 25,347,524 (GRCm39) |
H372Q |
probably damaging |
Het |
| Errfi1 |
T |
A |
4: 150,951,204 (GRCm39) |
Y211N |
probably damaging |
Het |
| Fam193b |
G |
A |
13: 55,691,250 (GRCm39) |
T208M |
probably benign |
Het |
| Flacc1 |
T |
C |
1: 58,717,507 (GRCm39) |
I135V |
possibly damaging |
Het |
| Fmnl2 |
C |
T |
2: 52,997,552 (GRCm39) |
T501M |
possibly damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm4841 |
G |
T |
18: 60,403,135 (GRCm39) |
D319E |
probably benign |
Het |
| Gucd1 |
A |
G |
10: 75,345,494 (GRCm39) |
F187S |
probably damaging |
Het |
| Hcar2 |
GCGGATGCGCAC |
GC |
5: 124,002,752 (GRCm39) |
|
probably null |
Het |
| Helz2 |
T |
C |
2: 180,880,210 (GRCm39) |
D502G |
probably damaging |
Het |
| Hspa2 |
A |
G |
12: 76,451,639 (GRCm39) |
E111G |
possibly damaging |
Het |
| Htr2a |
T |
A |
14: 74,882,499 (GRCm39) |
S162T |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,869,623 (GRCm39) |
Y223H |
possibly damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,485,838 (GRCm39) |
K330E |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,400,645 (GRCm39) |
F562I |
probably damaging |
Het |
| Isx |
T |
C |
8: 75,600,487 (GRCm39) |
|
probably null |
Het |
| Jcad |
G |
A |
18: 4,674,055 (GRCm39) |
V606I |
probably benign |
Het |
| Kcnn2 |
A |
T |
18: 45,816,187 (GRCm39) |
T333S |
possibly damaging |
Het |
| Kcnq5 |
C |
T |
1: 21,473,274 (GRCm39) |
A630T |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,028,946 (GRCm39) |
M188V |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,903,086 (GRCm39) |
V321A |
possibly damaging |
Het |
| Krtap4-8 |
A |
T |
11: 99,671,271 (GRCm39) |
|
probably benign |
Het |
| Lcor |
G |
C |
19: 41,574,334 (GRCm39) |
A1030P |
probably benign |
Het |
| Lgals3bp |
A |
C |
11: 118,289,295 (GRCm39) |
L52R |
probably damaging |
Het |
| Lipk |
C |
A |
19: 33,999,099 (GRCm39) |
H126Q |
probably damaging |
Het |
| Lpgat1 |
T |
C |
1: 191,495,779 (GRCm39) |
Y323H |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,311,517 (GRCm39) |
N2654H |
probably damaging |
Het |
| Lsm14b |
C |
T |
2: 179,669,774 (GRCm39) |
Q6* |
probably null |
Het |
| Lysmd3 |
C |
T |
13: 81,817,584 (GRCm39) |
A187V |
possibly damaging |
Het |
| Map2k5 |
A |
G |
9: 63,201,001 (GRCm39) |
S211P |
probably damaging |
Het |
| Mlph |
A |
T |
1: 90,869,419 (GRCm39) |
I474F |
probably damaging |
Het |
| Mpped2 |
T |
C |
2: 106,614,091 (GRCm39) |
S142P |
probably damaging |
Het |
| Nemf |
A |
C |
12: 69,371,062 (GRCm39) |
M678R |
probably benign |
Het |
| Nfe2l1 |
A |
T |
11: 96,718,515 (GRCm39) |
Y7N |
probably damaging |
Het |
| Nfkbie |
T |
G |
17: 45,867,232 (GRCm39) |
D122E |
probably benign |
Het |
| Noc3l |
C |
A |
19: 38,778,066 (GRCm39) |
A783S |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,816,229 (GRCm39) |
V761A |
probably damaging |
Het |
| Nvl |
A |
G |
1: 180,929,152 (GRCm39) |
L743P |
probably damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,484 (GRCm39) |
I207F |
probably benign |
Het |
| Plcb1 |
A |
G |
2: 135,093,667 (GRCm39) |
K160R |
possibly damaging |
Het |
| Plekhg3 |
G |
T |
12: 76,625,096 (GRCm39) |
G1313C |
possibly damaging |
Het |
| Plekhh1 |
GTCAAA |
G |
12: 79,122,194 (GRCm39) |
|
probably null |
Het |
| Popdc3 |
G |
A |
10: 45,191,002 (GRCm39) |
V38I |
probably benign |
Het |
| Prdx3 |
A |
T |
19: 60,858,551 (GRCm39) |
V114D |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,485,579 (GRCm39) |
S469T |
probably benign |
Het |
| Rbm22 |
G |
A |
18: 60,697,463 (GRCm39) |
R56H |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,491,894 (GRCm39) |
F113I |
possibly damaging |
Het |
| Rsbn1 |
C |
A |
3: 103,836,336 (GRCm39) |
T458N |
possibly damaging |
Het |
| Serpina3b |
A |
G |
12: 104,096,889 (GRCm39) |
S57G |
possibly damaging |
Het |
| Skor2 |
G |
T |
18: 76,948,878 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
A |
T |
11: 53,879,719 (GRCm39) |
Y447N |
probably damaging |
Het |
| Slco1a7 |
C |
A |
6: 141,668,948 (GRCm39) |
A495S |
probably damaging |
Het |
| Stx19 |
G |
T |
16: 62,642,682 (GRCm39) |
R166L |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,205,869 (GRCm39) |
T170A |
possibly damaging |
Het |
| Sycp2 |
T |
G |
2: 178,016,225 (GRCm39) |
S746R |
probably benign |
Het |
| Tchh |
G |
T |
3: 93,355,189 (GRCm39) |
R1543L |
unknown |
Het |
| Tjp2 |
T |
C |
19: 24,078,169 (GRCm39) |
D908G |
probably damaging |
Het |
| Ttc8 |
C |
A |
12: 98,946,068 (GRCm39) |
A452E |
possibly damaging |
Het |
| Unc5a |
T |
A |
13: 55,151,696 (GRCm39) |
W709R |
probably null |
Het |
| Unc80 |
T |
A |
1: 66,549,951 (GRCm39) |
S736R |
possibly damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,788 (GRCm39) |
H387Q |
probably benign |
Het |
| Vmn2r39 |
C |
T |
7: 9,026,469 (GRCm39) |
|
probably null |
Het |
| Vmn2r88 |
T |
A |
14: 51,650,702 (GRCm39) |
D138E |
probably benign |
Het |
| Vwce |
T |
C |
19: 10,625,831 (GRCm39) |
F448L |
possibly damaging |
Het |
| Wdr75 |
C |
T |
1: 45,861,645 (GRCm39) |
S695F |
probably benign |
Het |
| Zfand4 |
T |
C |
6: 116,265,122 (GRCm39) |
|
probably null |
Het |
| Zfp511 |
T |
A |
7: 139,617,424 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
T |
C |
4: 108,501,565 (GRCm39) |
K584E |
possibly 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 |
|
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'- AATCTTGACTGAGTGTCTTTGAGAG -3'
(R):5'- AGGCCATGTGTTAGCCAGTTAC -3'
Sequencing Primer
(F):5'- TGAGAGTTGCTAATGTGTAAGGAATG -3'
(R):5'- CCATGTGTTAGCCAGTTACTGTCTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation