Incidental Mutation 'R5988:Rims1'
ID |
481781 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rims1
|
Ensembl Gene |
ENSMUSG00000041670 |
Gene Name |
regulating synaptic membrane exocytosis 1 |
Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
MMRRC Submission |
044168-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.675)
|
Stock # |
R5988 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22635544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 146
(K146E)
|
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 |
possibly damaging
Transcript: ENSMUST00000081544
AA Change: K146E
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000080259 Gene: ENSMUSG00000041670 AA Change: K146E
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: ENSMUST00000097808
AA Change: K146E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095417 Gene: ENSMUSG00000041670 AA Change: K146E
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: K146E
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000095418 Gene: ENSMUSG00000041670 AA Change: K146E
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
coiled coil region
|
30 |
52 |
N/A |
INTRINSIC |
Pfam:FYVE_2
|
102 |
205 |
1e-9 |
PFAM |
low complexity region
|
283 |
293 |
N/A |
INTRINSIC |
low complexity region
|
329 |
345 |
N/A |
INTRINSIC |
low complexity region
|
381 |
394 |
N/A |
INTRINSIC |
PDZ
|
449 |
528 |
1.44e-15 |
SMART |
low complexity region
|
535 |
551 |
N/A |
INTRINSIC |
C2
|
593 |
703 |
7.55e-1 |
SMART |
low complexity region
|
710 |
721 |
N/A |
INTRINSIC |
low complexity region
|
862 |
874 |
N/A |
INTRINSIC |
low complexity region
|
974 |
1009 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1100 |
N/A |
INTRINSIC |
C2
|
1195 |
1298 |
7.45e-15 |
SMART |
low complexity region
|
1320 |
1328 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097810
AA Change: K146E
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000095419 Gene: ENSMUSG00000041670 AA Change: K146E
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
AA Change: K146E
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000095420 Gene: ENSMUSG00000041670 AA Change: K146E
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 |
possibly damaging
Transcript: ENSMUST00000115273
AA Change: K146E
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000110928 Gene: ENSMUSG00000041670 AA Change: K146E
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 damaging
Transcript: ENSMUST00000218140
AA Change: K146E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.1%
- 10x: 95.3%
- 20x: 84.3%
|
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: 104 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
T |
A |
14: 29,715,030 (GRCm39) |
M615K |
possibly damaging |
Het |
Acvr1c |
A |
T |
2: 58,205,886 (GRCm39) |
C25S |
probably damaging |
Het |
Adk |
A |
T |
14: 21,473,616 (GRCm39) |
E291V |
probably benign |
Het |
Ahnak |
C |
A |
19: 8,986,711 (GRCm39) |
|
probably benign |
Het |
Alg11 |
A |
G |
8: 22,552,044 (GRCm39) |
T63A |
probably benign |
Het |
Alox12 |
A |
T |
11: 70,142,413 (GRCm39) |
S272T |
probably benign |
Het |
Armc10 |
T |
A |
5: 21,865,581 (GRCm39) |
S195T |
probably damaging |
Het |
AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
Baat |
G |
A |
4: 49,502,871 (GRCm39) |
P84S |
probably damaging |
Het |
BB014433 |
G |
A |
8: 15,091,854 (GRCm39) |
T333I |
probably damaging |
Het |
BC035947 |
G |
A |
1: 78,475,843 (GRCm39) |
R230* |
probably null |
Het |
Bcr |
G |
A |
10: 75,011,167 (GRCm39) |
G26E |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,833,348 (GRCm39) |
E233G |
probably damaging |
Het |
Cep295 |
A |
G |
9: 15,252,770 (GRCm39) |
F353L |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,455,395 (GRCm39) |
M1031V |
probably damaging |
Het |
Col17a1 |
C |
G |
19: 47,642,659 (GRCm39) |
G885R |
probably damaging |
Het |
Cyp11a1 |
A |
C |
9: 57,928,117 (GRCm39) |
I214L |
probably benign |
Het |
Cyp3a44 |
A |
T |
5: 145,731,728 (GRCm39) |
S139R |
probably damaging |
Het |
Ddhd2 |
G |
A |
8: 26,238,589 (GRCm39) |
R64C |
probably damaging |
Het |
Dll3 |
A |
G |
7: 27,993,537 (GRCm39) |
W561R |
probably damaging |
Het |
Dnajc3 |
T |
C |
14: 119,195,376 (GRCm39) |
V97A |
possibly damaging |
Het |
Drosha |
C |
T |
15: 12,834,582 (GRCm39) |
|
probably benign |
Het |
E2f8 |
T |
C |
7: 48,524,743 (GRCm39) |
D302G |
probably damaging |
Het |
Ecd |
C |
G |
14: 20,374,629 (GRCm39) |
D504H |
probably damaging |
Het |
Eif1ad15 |
T |
A |
12: 88,288,202 (GRCm39) |
N17I |
unknown |
Het |
Eif4g2 |
C |
A |
7: 110,676,437 (GRCm39) |
V331L |
probably benign |
Het |
Fam124a |
T |
C |
14: 62,824,986 (GRCm39) |
I160T |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,482,493 (GRCm39) |
T3051A |
probably benign |
Het |
Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
Gm572 |
A |
G |
4: 148,752,964 (GRCm39) |
E281G |
possibly damaging |
Het |
Gm9944 |
T |
C |
4: 144,179,775 (GRCm39) |
|
probably benign |
Het |
Gstm5 |
A |
C |
3: 107,803,270 (GRCm39) |
M1L |
probably benign |
Het |
Havcr1 |
A |
G |
11: 46,646,964 (GRCm39) |
T133A |
probably damaging |
Het |
Hey1 |
T |
G |
3: 8,731,379 (GRCm39) |
S68R |
probably damaging |
Het |
Hsf2bp |
C |
T |
17: 32,230,149 (GRCm39) |
|
probably null |
Het |
Id2 |
T |
C |
12: 25,145,723 (GRCm39) |
N96S |
probably benign |
Het |
Ifi206 |
A |
C |
1: 173,308,906 (GRCm39) |
S363R |
possibly damaging |
Het |
Il21r |
T |
C |
7: 125,231,460 (GRCm39) |
F296S |
probably damaging |
Het |
Irgm2 |
A |
G |
11: 58,111,013 (GRCm39) |
T247A |
probably benign |
Het |
Irx5 |
T |
A |
8: 93,087,299 (GRCm39) |
Y410* |
probably null |
Het |
Kmt2c |
A |
G |
5: 25,516,118 (GRCm39) |
I2575T |
probably benign |
Het |
Lmbrd2 |
T |
A |
15: 9,182,493 (GRCm39) |
|
probably null |
Het |
Lrig1 |
A |
C |
6: 94,605,023 (GRCm39) |
S191A |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,506,722 (GRCm39) |
|
probably benign |
Het |
Lypd6b |
T |
A |
2: 49,836,178 (GRCm39) |
C120S |
probably damaging |
Het |
Mpdz |
A |
G |
4: 81,202,812 (GRCm39) |
|
probably null |
Het |
Myh6 |
G |
T |
14: 55,202,851 (GRCm39) |
R23S |
probably damaging |
Het |
Nat8f6 |
C |
T |
6: 85,786,040 (GRCm39) |
M36I |
probably benign |
Het |
Nol8 |
T |
A |
13: 49,826,090 (GRCm39) |
M970K |
possibly damaging |
Het |
Nrxn2 |
T |
C |
19: 6,542,901 (GRCm39) |
F1042L |
possibly damaging |
Het |
Nup160 |
T |
C |
2: 90,519,553 (GRCm39) |
W277R |
probably damaging |
Het |
Ogfr |
A |
T |
2: 180,236,026 (GRCm39) |
T204S |
probably damaging |
Het |
Or10j5 |
T |
A |
1: 172,784,723 (GRCm39) |
Y120* |
probably null |
Het |
Or1ak2 |
A |
G |
2: 36,827,236 (GRCm39) |
Y35C |
probably damaging |
Het |
Or1p1 |
T |
C |
11: 74,179,679 (GRCm39) |
V69A |
probably benign |
Het |
Or2n1d |
T |
C |
17: 38,646,911 (GRCm39) |
F288L |
probably damaging |
Het |
Or52n2b |
A |
T |
7: 104,566,125 (GRCm39) |
V126E |
probably damaging |
Het |
Or8c20 |
T |
C |
9: 38,261,045 (GRCm39) |
V222A |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,215,189 (GRCm39) |
I648V |
probably benign |
Het |
Pced1b |
T |
A |
15: 97,282,228 (GRCm39) |
V89E |
probably damaging |
Het |
Phax |
G |
T |
18: 56,708,564 (GRCm39) |
A43S |
probably benign |
Het |
Phf20 |
A |
G |
2: 156,149,250 (GRCm39) |
E976G |
probably damaging |
Het |
Plin4 |
T |
C |
17: 56,416,567 (GRCm39) |
T8A |
probably benign |
Het |
Plxna1 |
G |
A |
6: 89,334,522 (GRCm39) |
Q36* |
probably null |
Het |
Pold1 |
T |
C |
7: 44,190,004 (GRCm39) |
Y394C |
probably damaging |
Het |
Ppp1r26 |
T |
A |
2: 28,342,566 (GRCm39) |
V732E |
probably benign |
Het |
Pramel5 |
A |
T |
4: 143,999,716 (GRCm39) |
C124S |
possibly damaging |
Het |
Prorp |
T |
A |
12: 55,424,002 (GRCm39) |
M441K |
probably damaging |
Het |
Prr14l |
C |
A |
5: 32,988,195 (GRCm39) |
L433F |
probably damaging |
Het |
Ptpn14 |
A |
G |
1: 189,582,584 (GRCm39) |
Y477C |
probably damaging |
Het |
Rcl1 |
T |
A |
19: 29,099,167 (GRCm39) |
I154N |
probably damaging |
Het |
Rfpl4 |
T |
C |
7: 5,118,501 (GRCm39) |
Y23C |
probably damaging |
Het |
Rims2 |
A |
T |
15: 39,155,577 (GRCm39) |
K126M |
probably damaging |
Het |
Rpusd4 |
T |
A |
9: 35,183,816 (GRCm39) |
|
probably null |
Het |
Scn7a |
C |
T |
2: 66,556,558 (GRCm39) |
W342* |
probably null |
Het |
Sh3pxd2a |
A |
G |
19: 47,353,077 (GRCm39) |
V128A |
probably benign |
Het |
Slc15a5 |
T |
C |
6: 138,020,529 (GRCm39) |
H268R |
probably benign |
Het |
Slc22a3 |
T |
C |
17: 12,652,782 (GRCm39) |
I321V |
possibly damaging |
Het |
Slc7a6os |
A |
G |
8: 106,928,965 (GRCm39) |
S231P |
probably benign |
Het |
Smad5 |
T |
C |
13: 56,883,798 (GRCm39) |
S395P |
probably damaging |
Het |
Sorbs3 |
G |
A |
14: 70,440,752 (GRCm39) |
T20I |
probably benign |
Het |
Spata9 |
A |
G |
13: 76,116,236 (GRCm39) |
I42V |
probably benign |
Het |
Srl |
C |
T |
16: 4,340,892 (GRCm39) |
C9Y |
unknown |
Het |
Sugp2 |
T |
C |
8: 70,695,875 (GRCm39) |
F283L |
probably benign |
Het |
Syne2 |
T |
C |
12: 75,976,191 (GRCm39) |
|
probably null |
Het |
Taar6 |
A |
G |
10: 23,861,154 (GRCm39) |
Y131H |
probably damaging |
Het |
Tango2 |
T |
C |
16: 18,120,554 (GRCm39) |
T137A |
probably damaging |
Het |
Tas2r106 |
T |
A |
6: 131,655,606 (GRCm39) |
I82L |
probably benign |
Het |
Tbc1d32 |
T |
C |
10: 55,964,433 (GRCm39) |
E922G |
probably damaging |
Het |
Tgfb2 |
G |
T |
1: 186,436,778 (GRCm39) |
P65Q |
probably benign |
Het |
Tjp2 |
T |
G |
19: 24,091,464 (GRCm39) |
I566L |
probably benign |
Het |
Tnrc6a |
T |
A |
7: 122,781,603 (GRCm39) |
N1424K |
probably damaging |
Het |
Trim7 |
A |
T |
11: 48,728,513 (GRCm39) |
M54L |
probably benign |
Het |
Trpm1 |
T |
A |
7: 63,876,553 (GRCm39) |
S535R |
probably benign |
Het |
Tsc2 |
T |
A |
17: 24,839,740 (GRCm39) |
N417I |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,800,132 (GRCm39) |
R359G |
probably benign |
Het |
Vim |
A |
G |
2: 13,587,296 (GRCm39) |
T458A |
probably benign |
Het |
Vps11 |
A |
T |
9: 44,265,221 (GRCm39) |
S612R |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,032,004 (GRCm39) |
S2273P |
probably benign |
Het |
Wwox |
G |
T |
8: 115,433,081 (GRCm39) |
R249L |
probably benign |
Het |
Zbtb4 |
G |
T |
11: 69,669,790 (GRCm39) |
G838C |
probably damaging |
Het |
Zkscan3 |
A |
T |
13: 21,580,461 (GRCm39) |
C76S |
probably damaging |
Het |
Znrf3 |
C |
T |
11: 5,231,776 (GRCm39) |
C483Y |
probably damaging |
Het |
Zscan2 |
A |
G |
7: 80,525,947 (GRCm39) |
K556R |
possibly damaging |
Het |
|
Other mutations in Rims1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00227:Rims1
|
APN |
1 |
22,507,323 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00535:Rims1
|
APN |
1 |
22,503,172 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01021:Rims1
|
APN |
1 |
22,525,701 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01106:Rims1
|
APN |
1 |
22,449,671 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01128:Rims1
|
APN |
1 |
22,573,256 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01548:Rims1
|
APN |
1 |
22,577,683 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01688:Rims1
|
APN |
1 |
22,467,764 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02089:Rims1
|
APN |
1 |
22,669,556 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02245:Rims1
|
APN |
1 |
22,416,712 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02355:Rims1
|
APN |
1 |
22,522,288 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02362:Rims1
|
APN |
1 |
22,522,288 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02682:Rims1
|
APN |
1 |
22,358,708 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03006:Rims1
|
APN |
1 |
22,367,178 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03054:Rims1
|
UTSW |
1 |
22,360,333 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4504001:Rims1
|
UTSW |
1 |
22,467,684 (GRCm39) |
missense |
|
|
R0031:Rims1
|
UTSW |
1 |
22,367,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R0118:Rims1
|
UTSW |
1 |
22,416,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R0390:Rims1
|
UTSW |
1 |
22,635,607 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0483:Rims1
|
UTSW |
1 |
22,507,263 (GRCm39) |
splice site |
probably benign |
|
R0744:Rims1
|
UTSW |
1 |
22,497,709 (GRCm39) |
splice site |
probably null |
|
R0836:Rims1
|
UTSW |
1 |
22,497,709 (GRCm39) |
splice site |
probably null |
|
R1218:Rims1
|
UTSW |
1 |
22,522,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R1228:Rims1
|
UTSW |
1 |
22,511,837 (GRCm39) |
missense |
probably null |
1.00 |
R1374:Rims1
|
UTSW |
1 |
22,367,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R1474:Rims1
|
UTSW |
1 |
22,577,362 (GRCm39) |
splice site |
probably benign |
|
R1652:Rims1
|
UTSW |
1 |
22,363,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R1712:Rims1
|
UTSW |
1 |
22,367,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R1730:Rims1
|
UTSW |
1 |
22,416,753 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1783:Rims1
|
UTSW |
1 |
22,416,753 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1861:Rims1
|
UTSW |
1 |
22,635,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:Rims1
|
UTSW |
1 |
22,498,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R1937:Rims1
|
UTSW |
1 |
22,358,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R2010:Rims1
|
UTSW |
1 |
22,367,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R2049:Rims1
|
UTSW |
1 |
22,635,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R2124:Rims1
|
UTSW |
1 |
22,474,732 (GRCm39) |
nonsense |
probably null |
|
R2860:Rims1
|
UTSW |
1 |
22,503,227 (GRCm39) |
missense |
probably benign |
0.01 |
R2861:Rims1
|
UTSW |
1 |
22,503,227 (GRCm39) |
missense |
probably benign |
0.01 |
R2914:Rims1
|
UTSW |
1 |
22,844,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R3740:Rims1
|
UTSW |
1 |
22,443,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R3741:Rims1
|
UTSW |
1 |
22,443,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R3773:Rims1
|
UTSW |
1 |
22,492,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R3874:Rims1
|
UTSW |
1 |
22,498,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R3901:Rims1
|
UTSW |
1 |
22,572,578 (GRCm39) |
missense |
probably benign |
0.00 |
R3964:Rims1
|
UTSW |
1 |
22,497,709 (GRCm39) |
splice site |
probably null |
|
R4037:Rims1
|
UTSW |
1 |
22,514,793 (GRCm39) |
missense |
probably damaging |
0.96 |
R4039:Rims1
|
UTSW |
1 |
22,514,793 (GRCm39) |
missense |
probably damaging |
0.96 |
R4056:Rims1
|
UTSW |
1 |
22,363,163 (GRCm39) |
splice site |
probably benign |
|
R4062:Rims1
|
UTSW |
1 |
22,572,664 (GRCm39) |
missense |
probably benign |
0.00 |
R4552:Rims1
|
UTSW |
1 |
22,443,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R4658:Rims1
|
UTSW |
1 |
22,497,793 (GRCm39) |
missense |
probably damaging |
0.98 |
R4688:Rims1
|
UTSW |
1 |
22,518,528 (GRCm39) |
nonsense |
probably null |
|
R4696:Rims1
|
UTSW |
1 |
22,358,836 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AGCCTCAGATCGTACATGC -3'
(R):5'- GCTGCCTTTCCTCAAACAGC -3'
Sequencing Primer
(F):5'- AGCCTCAGATCGTACATGCATTTAC -3'
(R):5'- TGCCTTTCCTCAAACAGCTCAAG -3'
|
Posted On |
2017-06-26 |