Incidental Mutation 'R1474:Rims1'
| ID |
163852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims1
|
| Ensembl Gene |
ENSMUSG00000041670 |
| Gene Name |
regulating synaptic membrane exocytosis 1 |
| Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
| MMRRC Submission |
039527-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.671)
|
| Stock # |
R1474 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 22577362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
probably benign
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 benign
Transcript: ENSMUST00000097808
|
| SMART Domains |
Protein: ENSMUSP00000095417
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 |
3.3e-10 |
PFAM |
|
low complexity region
|
283 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
345 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 benign
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 benign
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 benign
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 benign
Transcript: ENSMUST00000218140
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
95% (104/110) |
| 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 |
|---|
| Abca8a |
C |
A |
11: 109,960,635 (GRCm39) |
A628S |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,036,405 (GRCm39) |
N568S |
probably damaging |
Het |
| Ada |
C |
T |
2: 163,574,814 (GRCm39) |
A108T |
possibly damaging |
Het |
| Adam6a |
T |
A |
12: 113,508,069 (GRCm39) |
D147E |
possibly damaging |
Het |
| Ampd1 |
A |
T |
3: 103,006,154 (GRCm39) |
T655S |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,327,139 (GRCm39) |
F680S |
probably damaging |
Het |
| Asap1 |
G |
A |
15: 63,991,869 (GRCm39) |
T783I |
probably benign |
Het |
| Astn1 |
T |
A |
1: 158,329,923 (GRCm39) |
N259K |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,886,673 (GRCm39) |
V667A |
probably damaging |
Het |
| Brat1 |
G |
A |
5: 140,698,382 (GRCm39) |
V185I |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,732,620 (GRCm39) |
Y318C |
probably damaging |
Het |
| Caskin2 |
G |
A |
11: 115,694,522 (GRCm39) |
P360S |
probably benign |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,503,642 (GRCm39) |
T21A |
probably benign |
Het |
| Cd68 |
T |
A |
11: 69,555,754 (GRCm39) |
|
probably benign |
Het |
| Cdca2 |
T |
C |
14: 67,952,355 (GRCm39) |
|
probably benign |
Het |
| Cdk6 |
G |
A |
5: 3,523,217 (GRCm39) |
M212I |
probably benign |
Het |
| Ceacam5 |
T |
A |
7: 17,481,159 (GRCm39) |
F302Y |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,301,055 (GRCm39) |
E2746G |
possibly damaging |
Het |
| Clec4a4 |
G |
A |
6: 122,989,703 (GRCm39) |
V115I |
probably benign |
Het |
| Clip3 |
C |
A |
7: 29,998,307 (GRCm39) |
A251E |
possibly damaging |
Het |
| Cmah |
T |
C |
13: 24,623,180 (GRCm39) |
L350P |
probably damaging |
Het |
| Cntnap5a |
C |
T |
1: 116,370,103 (GRCm39) |
R907* |
probably null |
Het |
| Cntnap5b |
T |
C |
1: 99,999,814 (GRCm39) |
Y191H |
probably benign |
Het |
| Col4a4 |
A |
T |
1: 82,458,207 (GRCm39) |
C1122* |
probably null |
Het |
| Coq5 |
A |
G |
5: 115,433,842 (GRCm39) |
|
probably benign |
Het |
| Cpxcr1 |
A |
G |
X: 115,387,136 (GRCm39) |
K16E |
possibly damaging |
Het |
| Dclk3 |
T |
C |
9: 111,298,304 (GRCm39) |
I616T |
probably benign |
Het |
| Dhrs3 |
A |
T |
4: 144,646,057 (GRCm39) |
T122S |
probably damaging |
Het |
| Dnm1 |
T |
C |
2: 32,210,596 (GRCm39) |
I502V |
probably benign |
Het |
| Dscaml1 |
G |
T |
9: 45,596,519 (GRCm39) |
G788W |
probably damaging |
Het |
| Dusp10 |
C |
T |
1: 183,769,645 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
C |
A |
19: 5,769,112 (GRCm39) |
L730F |
possibly damaging |
Het |
| Eif2ak1 |
C |
T |
5: 143,808,785 (GRCm39) |
H75Y |
probably damaging |
Het |
| Evi2a |
T |
C |
11: 79,418,398 (GRCm39) |
T71A |
probably benign |
Het |
| Fam184a |
A |
T |
10: 53,511,461 (GRCm39) |
S1073T |
probably damaging |
Het |
| Fam227a |
T |
C |
15: 79,499,582 (GRCm39) |
Y591C |
probably damaging |
Het |
| Fam83a |
C |
T |
15: 57,873,272 (GRCm39) |
T367M |
probably benign |
Het |
| Fam83g |
A |
G |
11: 61,593,819 (GRCm39) |
D451G |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,203,185 (GRCm39) |
F1213L |
possibly damaging |
Het |
| Fcgbp |
G |
A |
7: 27,791,273 (GRCm39) |
V845I |
probably benign |
Het |
| Fermt1 |
C |
T |
2: 132,766,942 (GRCm39) |
E342K |
probably benign |
Het |
| Foxn1 |
T |
A |
11: 78,251,933 (GRCm39) |
M433L |
probably benign |
Het |
| Gm6632 |
T |
G |
5: 59,211,679 (GRCm39) |
|
noncoding transcript |
Het |
| Gnl3 |
A |
T |
14: 30,738,418 (GRCm39) |
|
probably benign |
Het |
| Hhipl1 |
C |
T |
12: 108,277,996 (GRCm39) |
T108I |
probably damaging |
Het |
| Hs2st1 |
A |
T |
3: 144,141,256 (GRCm39) |
F271I |
possibly damaging |
Het |
| Ido1 |
T |
C |
8: 25,074,462 (GRCm39) |
S303G |
probably damaging |
Het |
| Ints2 |
C |
T |
11: 86,117,607 (GRCm39) |
R705H |
probably damaging |
Het |
| Kcnc2 |
A |
G |
10: 112,292,305 (GRCm39) |
K49E |
probably damaging |
Het |
| Kif3b |
T |
A |
2: 153,162,235 (GRCm39) |
V482E |
probably damaging |
Het |
| Ldlrad2 |
G |
A |
4: 137,299,525 (GRCm39) |
P100S |
probably benign |
Het |
| Lrba |
G |
T |
3: 86,687,573 (GRCm39) |
|
probably benign |
Het |
| Lsm11 |
A |
T |
11: 45,824,730 (GRCm39) |
W266R |
probably benign |
Het |
| Mob3a |
A |
T |
10: 80,522,988 (GRCm39) |
M215K |
probably benign |
Het |
| Mterf1b |
T |
G |
5: 4,247,163 (GRCm39) |
L268R |
probably damaging |
Het |
| Mvk |
T |
C |
5: 114,598,157 (GRCm39) |
F365L |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,552,796 (GRCm39) |
F945I |
probably damaging |
Het |
| Myo1f |
G |
T |
17: 33,813,001 (GRCm39) |
K602N |
possibly damaging |
Het |
| Nr2c2ap |
A |
T |
8: 70,585,765 (GRCm39) |
M108L |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Ogfrl1 |
A |
G |
1: 23,414,890 (GRCm39) |
F206L |
probably damaging |
Het |
| Ola1 |
A |
T |
2: 72,987,188 (GRCm39) |
I148N |
probably damaging |
Het |
| Or14c46 |
G |
T |
7: 85,918,270 (GRCm39) |
H242Q |
probably damaging |
Het |
| Or4d10b |
T |
A |
19: 12,036,844 (GRCm39) |
T91S |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,701,288 (GRCm39) |
Y261C |
probably damaging |
Het |
| Or6c2 |
A |
T |
10: 129,362,824 (GRCm39) |
M243L |
probably benign |
Het |
| Or9m2 |
A |
G |
2: 87,821,334 (GRCm39) |
N293S |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,536,876 (GRCm39) |
|
probably null |
Het |
| Pah |
G |
T |
10: 87,414,175 (GRCm39) |
K341N |
probably damaging |
Het |
| Pfdn5 |
T |
A |
15: 102,236,946 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
A |
G |
18: 63,216,202 (GRCm39) |
C960R |
probably damaging |
Het |
| Pitx2 |
T |
C |
3: 129,012,488 (GRCm39) |
V306A |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,792,236 (GRCm39) |
|
probably benign |
Het |
| Plekho1 |
T |
C |
3: 95,896,878 (GRCm39) |
E197G |
probably damaging |
Het |
| Polr2i |
A |
G |
7: 29,932,227 (GRCm39) |
N34S |
probably damaging |
Het |
| Psph |
A |
T |
5: 129,848,614 (GRCm39) |
D22E |
probably damaging |
Het |
| Ptprs |
C |
A |
17: 56,731,128 (GRCm39) |
A687S |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,788,265 (GRCm39) |
K606R |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,208,868 (GRCm39) |
V703A |
possibly damaging |
Het |
| Rnf213 |
C |
T |
11: 119,328,576 (GRCm39) |
P2002L |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,740,307 (GRCm39) |
C555S |
probably damaging |
Het |
| Sftpd |
C |
A |
14: 40,894,384 (GRCm39) |
G345V |
probably damaging |
Het |
| Slc41a1 |
T |
A |
1: 131,774,319 (GRCm39) |
M462K |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,264,990 (GRCm39) |
E676G |
probably damaging |
Het |
| Sox6 |
T |
A |
7: 115,300,926 (GRCm39) |
|
probably benign |
Het |
| Spdye4b |
G |
A |
5: 143,181,472 (GRCm39) |
R109Q |
probably damaging |
Het |
| Spef1l |
C |
A |
7: 139,556,555 (GRCm39) |
R144L |
probably benign |
Het |
| Spink8 |
A |
T |
9: 109,649,706 (GRCm39) |
I63L |
probably damaging |
Het |
| St3gal3 |
A |
G |
4: 117,871,983 (GRCm39) |
L73P |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,871,818 (GRCm39) |
L1247P |
probably benign |
Het |
| Tat |
A |
G |
8: 110,718,195 (GRCm39) |
R27G |
probably benign |
Het |
| Tcerg1l |
C |
T |
7: 137,881,804 (GRCm39) |
R295H |
probably damaging |
Het |
| Tfrc |
T |
C |
16: 32,445,467 (GRCm39) |
V596A |
probably damaging |
Het |
| Tgfb3 |
C |
T |
12: 86,116,120 (GRCm39) |
|
probably null |
Het |
| Tmed5 |
A |
T |
5: 108,280,248 (GRCm39) |
S15T |
probably benign |
Het |
| Tph1 |
A |
T |
7: 46,303,286 (GRCm39) |
S231T |
probably benign |
Het |
| Trim30d |
G |
A |
7: 104,121,701 (GRCm39) |
S198L |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,773,859 (GRCm39) |
M412T |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,612,589 (GRCm39) |
D15417E |
probably benign |
Het |
| U2surp |
A |
G |
9: 95,375,251 (GRCm39) |
I157T |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,156,890 (GRCm39) |
D2305G |
probably damaging |
Het |
| Uvssa |
A |
G |
5: 33,546,165 (GRCm39) |
K179E |
probably benign |
Het |
| Vps35l |
T |
C |
7: 118,359,436 (GRCm39) |
F230S |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,355,411 (GRCm39) |
K3391E |
probably benign |
Het |
| Xpo7 |
T |
A |
14: 70,936,473 (GRCm39) |
H170L |
probably benign |
Het |
| Zrsr2-ps1 |
T |
C |
11: 22,924,404 (GRCm39) |
W393R |
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 |
|
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'- TTTAGAGGCTGGCAAACATCTCAGG -3'
(R):5'- TTCTTCGGAAGTGGTCCTCAGCAG -3'
Sequencing Primer
(F):5'- ACATCTCAGGGCCATTGCTG -3'
(R):5'- ACTCTGAGTGACACGGCTAC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation