Incidental Mutation 'R7567:Rims1'
| ID |
585475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims1
|
| Ensembl Gene |
ENSMUSG00000041670 |
| Gene Name |
regulating synaptic membrane exocytosis 1 |
| Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
| MMRRC Submission |
045629-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.671)
|
| Stock # |
R7567 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22507291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 620
(Y620H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081544]
[ENSMUST00000097808]
[ENSMUST00000097809]
[ENSMUST00000097810]
[ENSMUST00000097811]
[ENSMUST00000115273]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081544
AA Change: Y620H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: Y620H
| 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 |
possibly damaging
Transcript: ENSMUST00000097808
AA Change: Y798H
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095417
Gene: ENSMUSG00000041670
AA Change: Y798H
| 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: Y620H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: Y620H
| 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 damaging
Transcript: ENSMUST00000097810
AA Change: Y620H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: Y620H
| 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 damaging
Transcript: ENSMUST00000097811
AA Change: Y620H
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: Y620H
| 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: Y620H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: Y620H
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
A |
T |
17: 9,226,838 (GRCm39) |
Q464H |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,224,260 (GRCm39) |
S108T |
probably damaging |
Het |
| Acss3 |
T |
C |
10: 106,959,174 (GRCm39) |
S91G |
probably benign |
Het |
| Adgrf4 |
T |
A |
17: 42,978,333 (GRCm39) |
I337L |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,581,648 (GRCm39) |
S4799P |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,596 (GRCm39) |
D348G |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,109,070 (GRCm39) |
D1546G |
probably benign |
Het |
| Agr2 |
A |
T |
12: 36,045,946 (GRCm39) |
R64S |
probably benign |
Het |
| Ankrd13a |
T |
A |
5: 114,927,545 (GRCm39) |
|
probably null |
Het |
| Apon |
T |
A |
10: 128,090,922 (GRCm39) |
M200K |
possibly damaging |
Het |
| Art4 |
T |
C |
6: 136,831,428 (GRCm39) |
S238G |
possibly damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,629,847 (GRCm39) |
V74D |
probably benign |
Het |
| Atrnl1 |
T |
C |
19: 57,687,955 (GRCm39) |
S807P |
probably damaging |
Het |
| C2cd3 |
T |
C |
7: 100,080,022 (GRCm39) |
V936A |
|
Het |
| Car15 |
T |
A |
16: 17,654,652 (GRCm39) |
H122L |
probably damaging |
Het |
| Cav3 |
A |
T |
6: 112,449,428 (GRCm39) |
R149W |
probably benign |
Het |
| Ccdc8 |
A |
T |
7: 16,728,687 (GRCm39) |
I59F |
probably damaging |
Het |
| Ccng2 |
G |
A |
5: 93,418,731 (GRCm39) |
V119I |
probably benign |
Het |
| Ceacam2 |
A |
G |
7: 25,227,333 (GRCm39) |
I178T |
probably benign |
Het |
| Ces2a |
A |
G |
8: 105,467,930 (GRCm39) |
D520G |
probably benign |
Het |
| Cln8 |
T |
C |
8: 14,945,057 (GRCm39) |
S124P |
probably benign |
Het |
| Coro2a |
T |
A |
4: 46,546,674 (GRCm39) |
D227V |
probably damaging |
Het |
| Cpa4 |
A |
C |
6: 30,573,889 (GRCm39) |
R32S |
probably benign |
Het |
| Creb3l4 |
G |
T |
3: 90,149,729 (GRCm39) |
D45E |
probably benign |
Het |
| Crybb2 |
C |
T |
5: 113,213,759 (GRCm39) |
|
probably null |
Het |
| Cul7 |
T |
A |
17: 46,965,521 (GRCm39) |
H566Q |
probably benign |
Het |
| Cyp2b10 |
A |
G |
7: 25,614,204 (GRCm39) |
Y226C |
probably damaging |
Het |
| Dennd2a |
A |
T |
6: 39,499,743 (GRCm39) |
V274D |
probably benign |
Het |
| Dmbt1 |
G |
A |
7: 130,663,093 (GRCm39) |
|
probably null |
Het |
| Drc7 |
T |
C |
8: 95,794,684 (GRCm39) |
I363T |
probably benign |
Het |
| Drd3 |
G |
A |
16: 43,643,047 (GRCm39) |
V396I |
probably benign |
Het |
| Dync2i1 |
A |
T |
12: 116,218,130 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
A |
G |
2: 118,280,795 (GRCm39) |
N1054S |
probably benign |
Het |
| Epc1 |
A |
C |
18: 6,450,084 (GRCm39) |
V458G |
probably damaging |
Het |
| Exoc1 |
T |
A |
5: 76,685,562 (GRCm39) |
D91E |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,943,485 (GRCm39) |
F793I |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,074,469 (GRCm39) |
E6G |
unknown |
Het |
| Galnt16 |
G |
A |
12: 80,628,084 (GRCm39) |
|
probably null |
Het |
| Ganc |
A |
T |
2: 120,286,582 (GRCm39) |
T804S |
probably benign |
Het |
| Gpam |
A |
T |
19: 55,070,062 (GRCm39) |
V398E |
possibly damaging |
Het |
| Gpr68 |
A |
G |
12: 100,844,623 (GRCm39) |
V307A |
probably benign |
Het |
| Grm7 |
C |
T |
6: 111,335,722 (GRCm39) |
S711L |
probably damaging |
Het |
| Hemgn |
T |
A |
4: 46,397,034 (GRCm39) |
R67S |
probably damaging |
Het |
| Hmg20b |
T |
C |
10: 81,182,493 (GRCm39) |
D281G |
possibly damaging |
Het |
| Ifi211 |
A |
C |
1: 173,729,401 (GRCm39) |
F277V |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,322,981 (GRCm39) |
I322V |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,671,830 (GRCm39) |
L265H |
probably damaging |
Het |
| Itgal |
G |
T |
7: 126,898,960 (GRCm39) |
A101S |
probably benign |
Het |
| Kif5a |
C |
T |
10: 127,073,248 (GRCm39) |
M647I |
probably benign |
Het |
| Kirrel1 |
G |
T |
3: 87,002,988 (GRCm39) |
T135K |
probably damaging |
Het |
| Klf16 |
T |
C |
10: 80,412,622 (GRCm39) |
Y138C |
probably benign |
Het |
| Klhl7 |
A |
G |
5: 24,331,844 (GRCm39) |
T49A |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,022,474 (GRCm39) |
|
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,330,104 (GRCm39) |
I1238F |
probably damaging |
Het |
| Ncoa5 |
C |
T |
2: 164,846,171 (GRCm39) |
M225I |
possibly damaging |
Het |
| Nf1 |
A |
T |
11: 79,438,052 (GRCm39) |
T121S |
probably damaging |
Het |
| Ngfr |
T |
C |
11: 95,465,147 (GRCm39) |
T234A |
probably benign |
Het |
| Ninj1 |
T |
G |
13: 49,347,356 (GRCm39) |
F74V |
probably damaging |
Het |
| Npffr1 |
T |
C |
10: 61,462,088 (GRCm39) |
V408A |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,003,570 (GRCm39) |
V240A |
probably damaging |
Het |
| Obi1 |
T |
C |
14: 104,716,814 (GRCm39) |
T520A |
probably damaging |
Het |
| Or12d13 |
T |
A |
17: 37,648,062 (GRCm39) |
E20D |
probably benign |
Het |
| Or2z2 |
A |
G |
11: 58,345,992 (GRCm39) |
M261T |
probably damaging |
Het |
| Or7a35 |
T |
A |
10: 78,853,379 (GRCm39) |
F74L |
probably benign |
Het |
| Or8b44 |
G |
A |
9: 38,410,369 (GRCm39) |
V135I |
probably benign |
Het |
| Or8g34 |
T |
C |
9: 39,373,173 (GRCm39) |
S146P |
possibly damaging |
Het |
| Ovol1 |
T |
C |
19: 5,601,614 (GRCm39) |
H136R |
probably damaging |
Het |
| Prag1 |
T |
A |
8: 36,569,760 (GRCm39) |
D114E |
possibly damaging |
Het |
| Pramel17 |
T |
C |
4: 101,694,331 (GRCm39) |
N184S |
probably benign |
Het |
| Prss3b |
C |
A |
6: 41,010,127 (GRCm39) |
R69L |
probably benign |
Het |
| Prss57 |
T |
A |
10: 79,623,234 (GRCm39) |
H71L |
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,978,448 (GRCm39) |
F187L |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 22,959,779 (GRCm39) |
N92I |
probably damaging |
Het |
| Rab23 |
A |
T |
1: 33,773,812 (GRCm39) |
T91S |
possibly damaging |
Het |
| Rag1 |
A |
G |
2: 101,474,006 (GRCm39) |
S379P |
probably damaging |
Het |
| Ribc2 |
G |
T |
15: 85,027,448 (GRCm39) |
D310Y |
probably damaging |
Het |
| Rock1 |
A |
C |
18: 10,090,820 (GRCm39) |
V938G |
probably benign |
Het |
| Rsph10b |
A |
G |
5: 143,886,244 (GRCm39) |
N314S |
possibly damaging |
Het |
| Sertad1 |
A |
G |
7: 27,189,327 (GRCm39) |
D216G |
possibly damaging |
Het |
| Shisal1 |
G |
A |
15: 84,290,914 (GRCm39) |
T131M |
probably benign |
Het |
| Slco6d1 |
T |
A |
1: 98,425,252 (GRCm39) |
V600D |
probably damaging |
Het |
| Snapc2 |
T |
C |
8: 4,305,314 (GRCm39) |
I232T |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,136,913 (GRCm39) |
S125G |
probably damaging |
Het |
| Srcin1 |
C |
T |
11: 97,425,551 (GRCm39) |
R502H |
probably damaging |
Het |
| Tesmin |
A |
G |
19: 3,442,218 (GRCm39) |
E167G |
possibly damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,787 (GRCm39) |
I129M |
possibly damaging |
Het |
| Tmem235 |
A |
G |
11: 117,754,967 (GRCm39) |
S140G |
probably benign |
Het |
| Trim60 |
T |
A |
8: 65,454,177 (GRCm39) |
D24V |
probably damaging |
Het |
| Ttc39c |
A |
G |
18: 12,822,936 (GRCm39) |
E148G |
probably benign |
Het |
| Vmn2r70 |
G |
T |
7: 85,214,243 (GRCm39) |
T303K |
probably benign |
Het |
| Wdr48 |
A |
T |
9: 119,745,894 (GRCm39) |
T426S |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,346,326 (GRCm39) |
T2856S |
probably benign |
Het |
| Zswim8 |
A |
G |
14: 20,770,001 (GRCm39) |
N1356S |
probably damaging |
Het |
|
| Other mutations in Rims1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Rims1
|
APN |
1 |
22,507,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00535:Rims1
|
APN |
1 |
22,503,172 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01021:Rims1
|
APN |
1 |
22,525,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01106:Rims1
|
APN |
1 |
22,449,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01128:Rims1
|
APN |
1 |
22,573,256 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01548:Rims1
|
APN |
1 |
22,577,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01688:Rims1
|
APN |
1 |
22,467,764 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02089:Rims1
|
APN |
1 |
22,669,556 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02245:Rims1
|
APN |
1 |
22,416,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02355:Rims1
|
APN |
1 |
22,522,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Rims1
|
APN |
1 |
22,522,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02682:Rims1
|
APN |
1 |
22,358,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03006:Rims1
|
APN |
1 |
22,367,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03054:Rims1
|
UTSW |
1 |
22,360,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Rims1
|
UTSW |
1 |
22,467,684 (GRCm39) |
missense |
|
|
|
R0031:Rims1
|
UTSW |
1 |
22,367,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Rims1
|
UTSW |
1 |
22,416,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Rims1
|
UTSW |
1 |
22,635,607 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0483:Rims1
|
UTSW |
1 |
22,507,263 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
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'- GGTGCATTTTAATGAAGTGGATCAAC -3'
(R):5'- ATGCTTCCAAATCACTGTAATTCC -3'
Sequencing Primer
(F):5'- GCAGTTTGGTCCCCTAAA -3'
(R):5'- CCTGTGTTCTCTATAGGAGGAACAAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation