Incidental Mutation 'R1899:Rims1'
ID |
214046 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rims1
|
Ensembl Gene |
ENSMUSG00000041670 |
Gene Name |
regulating synaptic membrane exocytosis 1 |
Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
MMRRC Submission |
039919-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.675)
|
Stock # |
R1899 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 22498725 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 769
(P769Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110928
(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: P769Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080259 Gene: ENSMUSG00000041670 AA Change: P769Q
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
coiled coil region
|
30 |
52 |
N/A |
INTRINSIC |
Pfam:FYVE_2
|
102 |
205 |
2.6e-9 |
PFAM |
low complexity region
|
283 |
293 |
N/A |
INTRINSIC |
low complexity region
|
329 |
345 |
N/A |
INTRINSIC |
low complexity region
|
381 |
394 |
N/A |
INTRINSIC |
PDZ
|
449 |
528 |
1.44e-15 |
SMART |
low complexity region
|
535 |
551 |
N/A |
INTRINSIC |
C2
|
593 |
703 |
7.55e-1 |
SMART |
low complexity region
|
710 |
721 |
N/A |
INTRINSIC |
low complexity region
|
899 |
934 |
N/A |
INTRINSIC |
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
C2
|
1120 |
1223 |
7.45e-15 |
SMART |
low complexity region
|
1245 |
1253 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097809
AA Change: P769Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095418 Gene: ENSMUSG00000041670 AA Change: P769Q
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: P769Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095419 Gene: ENSMUSG00000041670 AA Change: P769Q
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: P769Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095420 Gene: ENSMUSG00000041670 AA Change: P769Q
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: P769Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110928 Gene: ENSMUSG00000041670 AA Change: P769Q
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: P73Q
|
Meta Mutation Damage Score |
0.2322 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.4%
|
Validation Efficiency |
94% (94/100) |
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: 98 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
T |
A |
5: 109,884,664 (GRCm39) |
Q398L |
probably benign |
Het |
4930596D02Rik |
T |
G |
14: 35,532,089 (GRCm39) |
K162T |
probably damaging |
Het |
Abca8b |
G |
T |
11: 109,828,744 (GRCm39) |
T1353K |
possibly damaging |
Het |
Abcg3 |
A |
C |
5: 105,086,065 (GRCm39) |
C565G |
probably damaging |
Het |
Actr3b |
G |
A |
5: 26,034,536 (GRCm39) |
V185I |
possibly damaging |
Het |
Akap6 |
A |
T |
12: 53,188,635 (GRCm39) |
E2016D |
possibly damaging |
Het |
Aldh3b2 |
T |
C |
19: 4,028,662 (GRCm39) |
V148A |
possibly damaging |
Het |
Ankfy1 |
C |
T |
11: 72,645,233 (GRCm39) |
Q771* |
probably null |
Het |
Anks1b |
A |
G |
10: 90,096,618 (GRCm39) |
D425G |
probably damaging |
Het |
Arrb1 |
T |
C |
7: 99,231,504 (GRCm39) |
|
probably benign |
Het |
Atg2a |
C |
A |
19: 6,295,097 (GRCm39) |
T170N |
probably damaging |
Het |
Atp8b5 |
C |
T |
4: 43,361,804 (GRCm39) |
R617C |
possibly damaging |
Het |
Bicra |
T |
C |
7: 15,721,676 (GRCm39) |
T614A |
possibly damaging |
Het |
Cacna1i |
A |
G |
15: 80,275,843 (GRCm39) |
D167G |
possibly damaging |
Het |
Calr4 |
T |
G |
4: 109,103,490 (GRCm39) |
|
probably null |
Het |
Camsap3 |
G |
T |
8: 3,653,922 (GRCm39) |
E515* |
probably null |
Het |
Casp8ap2 |
T |
C |
4: 32,643,647 (GRCm39) |
S907P |
probably damaging |
Het |
Cdk19 |
T |
A |
10: 40,355,776 (GRCm39) |
|
probably benign |
Het |
Chst14 |
A |
G |
2: 118,757,496 (GRCm39) |
M122V |
possibly damaging |
Het |
Cntn4 |
A |
G |
6: 106,652,774 (GRCm39) |
M748V |
probably benign |
Het |
Col7a1 |
A |
G |
9: 108,807,956 (GRCm39) |
D2552G |
unknown |
Het |
Cpeb2 |
C |
A |
5: 43,434,930 (GRCm39) |
P600Q |
probably damaging |
Het |
Cyp2a5 |
C |
T |
7: 26,538,458 (GRCm39) |
R274* |
probably null |
Het |
Dele1 |
T |
C |
18: 38,391,395 (GRCm39) |
W378R |
probably benign |
Het |
Dexi |
A |
G |
16: 10,360,382 (GRCm39) |
F58S |
probably damaging |
Het |
Dlg5 |
C |
A |
14: 24,198,368 (GRCm39) |
G1522W |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,244,286 (GRCm39) |
H1048R |
probably benign |
Het |
Dpp4 |
T |
C |
2: 62,175,394 (GRCm39) |
|
probably benign |
Het |
Dusp10 |
A |
T |
1: 183,801,377 (GRCm39) |
K381N |
possibly damaging |
Het |
Ercc4 |
A |
G |
16: 12,965,651 (GRCm39) |
E761G |
probably damaging |
Het |
Ern2 |
T |
C |
7: 121,783,065 (GRCm39) |
|
probably benign |
Het |
Fam83f |
A |
T |
15: 80,576,281 (GRCm39) |
T311S |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,153,004 (GRCm39) |
D3736G |
probably benign |
Het |
Fgf11 |
G |
T |
11: 69,692,279 (GRCm39) |
T58K |
probably benign |
Het |
Galntl5 |
C |
G |
5: 25,403,530 (GRCm39) |
S167* |
probably null |
Het |
Glg1 |
T |
G |
8: 111,892,306 (GRCm39) |
E846D |
probably benign |
Het |
Grm8 |
C |
A |
6: 28,125,894 (GRCm39) |
E77D |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,533,202 (GRCm39) |
D3028E |
probably damaging |
Het |
Htt |
A |
G |
5: 35,064,429 (GRCm39) |
I2943V |
probably benign |
Het |
Ift80 |
T |
C |
3: 68,825,846 (GRCm39) |
K498R |
probably benign |
Het |
Ipo9 |
A |
T |
1: 135,327,884 (GRCm39) |
M509K |
probably damaging |
Het |
Kcnj3 |
T |
C |
2: 55,327,256 (GRCm39) |
V15A |
probably damaging |
Het |
Kcnn3 |
A |
T |
3: 89,427,762 (GRCm39) |
|
probably benign |
Het |
Larp1b |
T |
A |
3: 40,918,519 (GRCm39) |
D53E |
probably benign |
Het |
Ltf |
T |
C |
9: 110,851,913 (GRCm39) |
F117L |
possibly damaging |
Het |
Maml1 |
A |
G |
11: 50,156,957 (GRCm39) |
L406P |
probably damaging |
Het |
Mnx1 |
G |
A |
5: 29,678,955 (GRCm39) |
A376V |
unknown |
Het |
Mroh2a |
G |
A |
1: 88,163,098 (GRCm39) |
R376H |
probably benign |
Het |
Mrpl4 |
A |
G |
9: 20,918,127 (GRCm39) |
Y111C |
probably damaging |
Het |
Mto1 |
T |
C |
9: 78,368,799 (GRCm39) |
|
probably benign |
Het |
Nalcn |
A |
T |
14: 123,553,538 (GRCm39) |
M972K |
possibly damaging |
Het |
Nemf |
T |
C |
12: 69,393,152 (GRCm39) |
I225V |
probably null |
Het |
Nipal4 |
T |
G |
11: 46,041,058 (GRCm39) |
D379A |
probably damaging |
Het |
Nktr |
A |
G |
9: 121,577,932 (GRCm39) |
|
probably benign |
Het |
Nlrp5 |
A |
G |
7: 23,104,222 (GRCm39) |
T28A |
probably benign |
Het |
Nxph1 |
T |
A |
6: 9,247,622 (GRCm39) |
Y198N |
probably damaging |
Het |
Or4c123 |
T |
C |
2: 89,127,014 (GRCm39) |
N200S |
probably damaging |
Het |
Or5an10 |
T |
C |
19: 12,275,707 (GRCm39) |
Y263C |
probably damaging |
Het |
Or8u10 |
A |
T |
2: 85,916,064 (GRCm39) |
V19D |
probably benign |
Het |
P2rx7 |
A |
G |
5: 122,811,799 (GRCm39) |
Y370C |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,209,384 (GRCm39) |
|
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,216,305 (GRCm39) |
D1401G |
probably damaging |
Het |
Plxnd1 |
A |
G |
6: 115,946,324 (GRCm39) |
L879P |
probably benign |
Het |
Polr2a |
A |
T |
11: 69,634,772 (GRCm39) |
I636N |
probably damaging |
Het |
Prex2 |
G |
T |
1: 11,232,590 (GRCm39) |
E886* |
probably null |
Het |
Proca1 |
A |
T |
11: 78,095,847 (GRCm39) |
I73F |
probably damaging |
Het |
Prss55 |
A |
T |
14: 64,316,839 (GRCm39) |
V101E |
probably benign |
Het |
Psg26 |
T |
A |
7: 18,212,350 (GRCm39) |
H335L |
probably benign |
Het |
Rai1 |
A |
G |
11: 60,076,746 (GRCm39) |
E270G |
probably benign |
Het |
Reep1 |
A |
G |
6: 71,757,781 (GRCm39) |
N127D |
probably benign |
Het |
Robo4 |
A |
T |
9: 37,315,366 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,606,222 (GRCm39) |
D888E |
probably benign |
Het |
Scamp3 |
A |
G |
3: 89,087,567 (GRCm39) |
N135D |
probably damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sema4f |
A |
G |
6: 82,895,010 (GRCm39) |
M395T |
probably benign |
Het |
Sgip1 |
T |
C |
4: 102,825,534 (GRCm39) |
|
probably null |
Het |
Sik2 |
A |
T |
9: 50,906,974 (GRCm39) |
|
probably benign |
Het |
Smtn |
G |
T |
11: 3,481,326 (GRCm39) |
A223D |
possibly damaging |
Het |
Spen |
T |
C |
4: 141,197,654 (GRCm39) |
T3405A |
probably benign |
Het |
Srebf1 |
A |
G |
11: 60,094,312 (GRCm39) |
L601P |
probably damaging |
Het |
Srsf11 |
A |
T |
3: 157,737,217 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
T |
G |
7: 130,225,932 (GRCm39) |
S891R |
possibly damaging |
Het |
Tbc1d17 |
T |
A |
7: 44,491,057 (GRCm39) |
|
probably benign |
Het |
Tgfbr3l |
C |
A |
8: 4,299,600 (GRCm39) |
R128S |
probably damaging |
Het |
Thsd1 |
G |
A |
8: 22,742,334 (GRCm39) |
|
probably benign |
Het |
Tlx3 |
T |
C |
11: 33,153,072 (GRCm39) |
S130G |
probably benign |
Het |
Tmem25 |
A |
T |
9: 44,709,513 (GRCm39) |
|
probably null |
Het |
Trak2 |
A |
T |
1: 58,985,495 (GRCm39) |
M1K |
probably null |
Het |
Trappc12 |
C |
T |
12: 28,796,984 (GRCm39) |
E183K |
probably damaging |
Het |
Ubl3 |
A |
G |
5: 148,446,090 (GRCm39) |
V71A |
possibly damaging |
Het |
Unc50 |
A |
G |
1: 37,477,880 (GRCm39) |
Y254C |
probably damaging |
Het |
Unkl |
T |
C |
17: 25,448,434 (GRCm39) |
|
probably null |
Het |
Uso1 |
T |
A |
5: 92,349,051 (GRCm39) |
S819T |
probably benign |
Het |
Yes1 |
A |
T |
5: 32,802,395 (GRCm39) |
R103S |
probably damaging |
Het |
Zfp131 |
A |
G |
13: 120,228,561 (GRCm39) |
V396A |
probably damaging |
Het |
Zfp553 |
T |
C |
7: 126,834,826 (GRCm39) |
I127T |
possibly damaging |
Het |
Zfp599 |
A |
T |
9: 22,162,845 (GRCm39) |
N102K |
probably benign |
Het |
Zmynd10 |
A |
T |
9: 107,427,236 (GRCm39) |
Q288L |
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 |
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 |
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'- GCTTTTGGAACCCCTGTAGG -3'
(R):5'- GCAGGTCAATGGCTGCTTTG -3'
Sequencing Primer
(F):5'- CTTTTGGAACCCCTGTAGGAAAAGC -3'
(R):5'- GTTCTGCTCCTGTCGTAAAAAG -3'
|
Posted On |
2014-07-14 |