Incidental Mutation 'R4688:Rims1'
| ID |
353804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims1
|
| Ensembl Gene |
ENSMUSG00000041670 |
| Gene Name |
regulating synaptic membrane exocytosis 1 |
| Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
| MMRRC Submission |
041939-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.671)
|
| Stock # |
R4688 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 22518528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 525
(S525*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081544]
[ENSMUST00000097808]
[ENSMUST00000097809]
[ENSMUST00000097810]
[ENSMUST00000097811]
[ENSMUST00000115273]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081544
AA Change: S525*
|
| SMART Domains |
Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: S525*
| 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: ENSMUST00000097808
AA Change: S703*
|
| SMART Domains |
Protein: ENSMUSP00000095417
Gene: ENSMUSG00000041670
AA Change: S703*
| 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 null
Transcript: ENSMUST00000097809
AA Change: S525*
|
| SMART Domains |
Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: S525*
| 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
AA Change: S525*
|
| SMART Domains |
Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: S525*
| 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
AA Change: S525*
|
| SMART Domains |
Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: S525*
| 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
AA Change: S525*
|
| SMART Domains |
Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: S525*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,139,680 (GRCm39) |
N535S |
probably damaging |
Het |
| Abcc12 |
T |
C |
8: 87,275,323 (GRCm39) |
S452G |
possibly damaging |
Het |
| Acacb |
C |
A |
5: 114,342,824 (GRCm39) |
Q897K |
probably benign |
Het |
| Acot3 |
C |
A |
12: 84,100,691 (GRCm39) |
R145S |
probably damaging |
Het |
| Ankrd54 |
A |
T |
15: 78,938,782 (GRCm39) |
Y247N |
probably damaging |
Het |
| Arl11 |
G |
A |
14: 61,548,546 (GRCm39) |
V119I |
probably benign |
Het |
| Atosb |
A |
G |
4: 43,034,663 (GRCm39) |
F352S |
probably damaging |
Het |
| Atxn7 |
T |
A |
14: 14,089,288 (GRCm38) |
M268K |
probably benign |
Het |
| Bms1 |
G |
A |
6: 118,369,667 (GRCm39) |
R934C |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,694,501 (GRCm39) |
I1664T |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,884,147 (GRCm39) |
S295P |
probably damaging |
Het |
| Cic |
TCCCCC |
TCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably null |
Het |
| Cnr1 |
A |
T |
4: 33,944,571 (GRCm39) |
I320F |
probably benign |
Het |
| Cntn4 |
C |
T |
6: 106,414,910 (GRCm39) |
P147L |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,020,144 (GRCm39) |
V172I |
probably benign |
Het |
| Col9a3 |
A |
G |
2: 180,249,424 (GRCm39) |
D262G |
probably damaging |
Het |
| Csrnp2 |
A |
G |
15: 100,380,241 (GRCm39) |
V350A |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,173,592 (GRCm39) |
V192A |
possibly damaging |
Het |
| Deptor |
A |
G |
15: 55,072,177 (GRCm39) |
M219V |
probably benign |
Het |
| Dmrtb1 |
A |
T |
4: 107,541,247 (GRCm39) |
L38Q |
probably damaging |
Het |
| Dvl2 |
G |
A |
11: 69,898,344 (GRCm39) |
R367Q |
possibly damaging |
Het |
| Dync1h1 |
T |
G |
12: 110,621,962 (GRCm39) |
I3435S |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,840,757 (GRCm39) |
V667A |
probably damaging |
Het |
| Eif2b3 |
A |
G |
4: 116,916,046 (GRCm39) |
N218D |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,046,292 (GRCm39) |
D497G |
probably benign |
Het |
| Epha7 |
G |
T |
4: 28,821,367 (GRCm39) |
L177F |
probably damaging |
Het |
| Fam98c |
C |
T |
7: 28,854,666 (GRCm39) |
E147K |
probably damaging |
Het |
| Fbxo17 |
A |
G |
7: 28,431,979 (GRCm39) |
T19A |
probably benign |
Het |
| Fbxo47 |
A |
G |
11: 97,747,049 (GRCm39) |
F339S |
probably damaging |
Het |
| Frmd4a |
G |
T |
2: 4,542,122 (GRCm39) |
V234L |
possibly damaging |
Het |
| Gal3st2 |
A |
G |
1: 93,800,245 (GRCm39) |
D32G |
probably damaging |
Het |
| Gpr135 |
T |
C |
12: 72,117,720 (GRCm39) |
T16A |
probably benign |
Het |
| Gpr160 |
A |
T |
3: 30,950,835 (GRCm39) |
R302S |
probably benign |
Het |
| Hrh2 |
C |
A |
13: 54,368,820 (GRCm39) |
N265K |
probably benign |
Het |
| Htatip2 |
C |
A |
7: 49,423,171 (GRCm39) |
A242E |
probably damaging |
Het |
| Igfbp7 |
T |
C |
5: 77,555,482 (GRCm39) |
Y127C |
probably damaging |
Het |
| Igkv16-104 |
A |
G |
6: 68,402,878 (GRCm39) |
Q57R |
possibly damaging |
Het |
| Ino80c |
A |
G |
18: 24,241,903 (GRCm39) |
S161P |
probably damaging |
Het |
| Itprid1 |
G |
A |
6: 55,944,132 (GRCm39) |
|
probably null |
Het |
| Kcnc1 |
A |
G |
7: 46,047,259 (GRCm39) |
D53G |
probably benign |
Het |
| Khdc4 |
T |
A |
3: 88,593,824 (GRCm39) |
M71K |
probably damaging |
Het |
| Lce1h |
G |
T |
3: 92,670,874 (GRCm39) |
R93S |
unknown |
Het |
| Lce1k |
T |
C |
3: 92,713,951 (GRCm39) |
S78G |
unknown |
Het |
| Lhcgr |
T |
A |
17: 89,072,580 (GRCm39) |
I156F |
probably damaging |
Het |
| Lpl |
T |
C |
8: 69,352,077 (GRCm39) |
Y343H |
probably damaging |
Het |
| Lrp6 |
G |
T |
6: 134,456,706 (GRCm39) |
R853S |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,854,242 (GRCm39) |
V1322A |
probably damaging |
Het |
| Lrrc74a |
C |
T |
12: 86,784,472 (GRCm39) |
Q67* |
probably null |
Het |
| Megf6 |
A |
T |
4: 154,338,271 (GRCm39) |
D447V |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,793,139 (GRCm39) |
D355G |
possibly damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,365,781 (GRCm39) |
D95G |
probably benign |
Het |
| Npepl1 |
A |
T |
2: 173,956,235 (GRCm39) |
I139F |
possibly damaging |
Het |
| Nrcam |
T |
C |
12: 44,594,020 (GRCm39) |
S262P |
probably benign |
Het |
| Nrp1 |
A |
G |
8: 129,229,047 (GRCm39) |
N842D |
probably benign |
Het |
| Olfml3 |
A |
G |
3: 103,639,497 (GRCm39) |
|
probably benign |
Het |
| Or1x6 |
A |
G |
11: 50,939,815 (GRCm39) |
R294G |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,969,343 (GRCm39) |
N47Y |
possibly damaging |
Het |
| Or6b6 |
T |
A |
7: 106,571,068 (GRCm39) |
Y161F |
probably benign |
Het |
| Or6c204 |
G |
A |
10: 129,022,514 (GRCm39) |
P259S |
probably damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,162 (GRCm39) |
Y27H |
possibly damaging |
Het |
| Or8b3b |
A |
G |
9: 38,584,659 (GRCm39) |
L27P |
probably damaging |
Het |
| Or9i1b |
A |
T |
19: 13,896,605 (GRCm39) |
T74S |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,152,041 (GRCm39) |
N316S |
probably benign |
Het |
| Pde4dip |
T |
A |
3: 97,750,993 (GRCm39) |
R74* |
probably null |
Het |
| Pex13 |
A |
T |
11: 23,605,472 (GRCm39) |
W253R |
possibly damaging |
Het |
| Piezo1 |
A |
T |
8: 123,215,278 (GRCm39) |
W1444R |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 119,998,414 (GRCm39) |
K843R |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,753 (GRCm39) |
P229L |
probably damaging |
Het |
| Prelid3b |
G |
T |
2: 174,308,592 (GRCm39) |
T131K |
probably benign |
Het |
| Pros1 |
T |
C |
16: 62,709,370 (GRCm39) |
|
probably null |
Het |
| Prrc2c |
G |
T |
1: 162,525,256 (GRCm39) |
P450Q |
unknown |
Het |
| Ptbp1 |
G |
T |
10: 79,692,342 (GRCm39) |
V5F |
possibly damaging |
Het |
| Ptk2 |
T |
A |
15: 73,078,074 (GRCm39) |
L997F |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,543,449 (GRCm39) |
S530P |
probably benign |
Het |
| Sh2b3 |
T |
A |
5: 121,956,697 (GRCm39) |
D318V |
probably benign |
Het |
| Slc16a13 |
A |
T |
11: 70,111,101 (GRCm39) |
I88N |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,414,345 (GRCm39) |
|
probably null |
Het |
| Snx10 |
A |
G |
6: 51,556,918 (GRCm39) |
N67S |
probably damaging |
Het |
| Stil |
A |
G |
4: 114,898,505 (GRCm39) |
Y1045C |
probably damaging |
Het |
| Stra6 |
A |
G |
9: 58,042,359 (GRCm39) |
|
probably null |
Het |
| Sympk |
A |
G |
7: 18,788,335 (GRCm39) |
S1254G |
probably benign |
Het |
| Syt15 |
G |
T |
14: 33,950,011 (GRCm39) |
G377V |
probably damaging |
Het |
| Taar4 |
A |
T |
10: 23,836,731 (GRCm39) |
I114F |
probably damaging |
Het |
| Tcaf3 |
G |
A |
6: 42,570,300 (GRCm39) |
|
probably null |
Het |
| Tgm7 |
A |
T |
2: 120,924,502 (GRCm39) |
N558K |
probably benign |
Het |
| Tln2 |
T |
G |
9: 67,304,935 (GRCm39) |
M1L |
probably benign |
Het |
| Trim50 |
C |
T |
5: 135,395,994 (GRCm39) |
T314I |
probably damaging |
Het |
| Trp53rka |
A |
T |
2: 165,333,312 (GRCm39) |
Y192* |
probably null |
Het |
| Ube3b |
T |
C |
5: 114,531,139 (GRCm39) |
V211A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,132,138 (GRCm39) |
S787G |
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,289 (GRCm39) |
M183V |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,904,782 (GRCm39) |
Q115K |
probably benign |
Het |
| Zfp358 |
A |
G |
8: 3,545,493 (GRCm39) |
D25G |
probably damaging |
Het |
| Zfp521 |
T |
G |
18: 13,977,647 (GRCm39) |
K922T |
probably damaging |
Het |
| Zfp521 |
T |
A |
18: 13,977,648 (GRCm39) |
K922* |
probably null |
Het |
| Zfp68 |
T |
A |
5: 138,614,743 (GRCm39) |
K4* |
probably null |
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 |
|
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'- TGGACCTTCTAACATAACAGGG -3'
(R):5'- TAGCGGACATGATATGACAAGTC -3'
Sequencing Primer
(F):5'- CCATGCTAACATGTACTGTAT -3'
(R):5'- GGGATGAAGTTCTAGAGTGG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation