Incidental Mutation 'R1861:Rims1'
| ID |
203859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims1
|
| Ensembl Gene |
ENSMUSG00000041670 |
| Gene Name |
regulating synaptic membrane exocytosis 1 |
| Synonyms |
RIM1alpha, C030033M19Rik, RIM1, RIM1a |
| MMRRC Submission |
039884-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.675)
|
| Stock # |
R1861 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
22356475-22845203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22635639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 114
(Y114F)
|
| 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: Y114F
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: Y114F
| 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: Y114F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095417
Gene: ENSMUSG00000041670
AA Change: Y114F
| 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: Y114F
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: Y114F
| 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: Y114F
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: Y114F
| 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: Y114F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: Y114F
| 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: Y114F
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: Y114F
| 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: Y114F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1737 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
| Validation Efficiency |
97% (117/121) |
| 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: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
C |
A |
9: 89,034,884 (GRCm39) |
|
noncoding transcript |
Het |
| Abra |
C |
A |
15: 41,732,430 (GRCm39) |
R212L |
probably damaging |
Het |
| Actr1a |
T |
C |
19: 46,372,714 (GRCm39) |
E87G |
probably damaging |
Het |
| Adam26a |
A |
G |
8: 44,022,578 (GRCm39) |
V304A |
possibly damaging |
Het |
| Alg2 |
T |
A |
4: 47,471,670 (GRCm39) |
K379N |
probably benign |
Het |
| Alk |
G |
T |
17: 72,181,933 (GRCm39) |
|
probably benign |
Het |
| Aopep |
A |
G |
13: 63,163,597 (GRCm39) |
Y206C |
probably damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,531,475 (GRCm39) |
Y331H |
probably damaging |
Het |
| Art3 |
A |
G |
5: 92,560,094 (GRCm39) |
|
probably benign |
Het |
| Asap1 |
G |
A |
15: 64,007,647 (GRCm39) |
|
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,960,114 (GRCm39) |
|
probably null |
Het |
| Atp8b5 |
G |
A |
4: 43,372,906 (GRCm39) |
R1150H |
probably damaging |
Het |
| Bltp2 |
C |
T |
11: 78,178,755 (GRCm39) |
|
probably benign |
Het |
| Brdt |
T |
C |
5: 107,507,324 (GRCm39) |
S575P |
probably benign |
Het |
| Capn3 |
T |
A |
2: 120,316,963 (GRCm39) |
|
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,640,951 (GRCm39) |
Y691N |
probably damaging |
Het |
| Ccdc127 |
T |
G |
13: 74,505,098 (GRCm39) |
H215Q |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,974,740 (GRCm39) |
L2300P |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,498,661 (GRCm39) |
F898L |
possibly damaging |
Het |
| Clcn1 |
C |
A |
6: 42,290,925 (GRCm39) |
P933Q |
possibly damaging |
Het |
| Cntn3 |
T |
A |
6: 102,222,032 (GRCm39) |
N489I |
probably benign |
Het |
| Col16a1 |
T |
C |
4: 129,955,517 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,243,022 (GRCm39) |
|
probably null |
Het |
| Col8a2 |
C |
T |
4: 126,205,417 (GRCm39) |
|
probably benign |
Het |
| Cpd |
T |
C |
11: 76,675,208 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,522,588 (GRCm39) |
C2694S |
probably damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,775,319 (GRCm39) |
Y311C |
probably benign |
Het |
| Dennd5b |
T |
A |
6: 148,969,760 (GRCm39) |
N231I |
probably damaging |
Het |
| Dgkh |
T |
A |
14: 78,816,232 (GRCm39) |
H936L |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,170,347 (GRCm39) |
|
probably null |
Het |
| Dnai2 |
T |
C |
11: 114,643,777 (GRCm39) |
V481A |
possibly damaging |
Het |
| Dnai3 |
T |
C |
3: 145,788,801 (GRCm39) |
Y260C |
probably damaging |
Het |
| Dpyd |
T |
G |
3: 118,710,780 (GRCm39) |
V396G |
probably damaging |
Het |
| Elmo3 |
A |
G |
8: 106,035,213 (GRCm39) |
D448G |
probably damaging |
Het |
| Emsy |
A |
T |
7: 98,290,822 (GRCm39) |
V100E |
probably damaging |
Het |
| Erbb2 |
T |
C |
11: 98,303,563 (GRCm39) |
|
probably null |
Het |
| Faah |
T |
C |
4: 115,865,432 (GRCm39) |
K85R |
probably benign |
Het |
| Fam149a |
A |
T |
8: 45,792,399 (GRCm39) |
Y686* |
probably null |
Het |
| Fat4 |
T |
C |
3: 39,064,633 (GRCm39) |
V4863A |
probably benign |
Het |
| Fbxl8 |
A |
G |
8: 105,995,561 (GRCm39) |
T358A |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,854,157 (GRCm39) |
Y1707C |
probably damaging |
Het |
| Fgfr3 |
A |
G |
5: 33,887,090 (GRCm39) |
T165A |
probably damaging |
Het |
| Fnbp1l |
A |
T |
3: 122,354,581 (GRCm39) |
H180Q |
probably damaging |
Het |
| Gm8180 |
T |
A |
14: 44,021,196 (GRCm39) |
H4L |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,802,794 (GRCm39) |
V1135A |
probably damaging |
Het |
| Gstcd |
G |
T |
3: 132,688,868 (GRCm39) |
N627K |
probably damaging |
Het |
| Gtf2a1l |
G |
A |
17: 89,022,382 (GRCm39) |
V458I |
probably damaging |
Het |
| Gtf3c3 |
T |
C |
1: 54,477,997 (GRCm39) |
E26G |
possibly damaging |
Het |
| Hrct1 |
A |
T |
4: 43,727,404 (GRCm39) |
T15S |
probably benign |
Het |
| Ift122 |
C |
A |
6: 115,868,889 (GRCm39) |
R459S |
probably damaging |
Het |
| Irf1 |
T |
A |
11: 53,665,183 (GRCm39) |
C187S |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,607,736 (GRCm39) |
V615A |
probably damaging |
Het |
| Kif1c |
T |
C |
11: 70,594,168 (GRCm39) |
S61P |
probably damaging |
Het |
| Mamdc2 |
T |
C |
19: 23,336,517 (GRCm39) |
T331A |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,268,128 (GRCm39) |
D25G |
possibly damaging |
Het |
| Me2 |
T |
C |
18: 73,918,785 (GRCm39) |
D432G |
probably benign |
Het |
| Mfap3 |
T |
C |
11: 57,419,032 (GRCm39) |
V64A |
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,108,399 (GRCm39) |
M416K |
probably benign |
Het |
| Ndufs1 |
C |
T |
1: 63,186,576 (GRCm39) |
G631D |
probably benign |
Het |
| Nomo1 |
G |
A |
7: 45,727,525 (GRCm39) |
V1055I |
probably benign |
Het |
| Nuggc |
T |
A |
14: 65,879,450 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,962,197 (GRCm39) |
S594P |
probably damaging |
Het |
| Or13c3 |
T |
A |
4: 52,856,373 (GRCm39) |
I47L |
probably benign |
Het |
| Or4a27 |
T |
G |
2: 88,559,674 (GRCm39) |
I90L |
probably damaging |
Het |
| Or4b1b |
C |
A |
2: 90,112,502 (GRCm39) |
C139F |
probably damaging |
Het |
| Or5b113 |
T |
A |
19: 13,342,705 (GRCm39) |
S238T |
possibly damaging |
Het |
| Or6p1 |
T |
C |
1: 174,258,657 (GRCm39) |
I221T |
probably damaging |
Het |
| Or8c10 |
C |
T |
9: 38,278,902 (GRCm39) |
S10L |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,709,468 (GRCm39) |
I138V |
probably damaging |
Het |
| Pcyt2 |
G |
A |
11: 120,501,968 (GRCm39) |
P332S |
probably benign |
Het |
| Phaf1 |
A |
G |
8: 105,966,703 (GRCm39) |
E150G |
probably null |
Het |
| Phf14 |
A |
T |
6: 11,987,610 (GRCm39) |
M630L |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,222,489 (GRCm39) |
N919S |
possibly damaging |
Het |
| Pif1 |
A |
T |
9: 65,496,735 (GRCm39) |
I283F |
probably damaging |
Het |
| Pknox2 |
G |
A |
9: 36,834,957 (GRCm39) |
H171Y |
probably damaging |
Het |
| Pramel17 |
A |
T |
4: 101,694,135 (GRCm39) |
D249E |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,095,275 (GRCm39) |
D632V |
probably damaging |
Het |
| Prr29 |
G |
A |
11: 106,266,264 (GRCm39) |
A6T |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,708,977 (GRCm39) |
D4796E |
unknown |
Het |
| Scnn1b |
G |
A |
7: 121,513,484 (GRCm39) |
C399Y |
probably damaging |
Het |
| Scp2 |
T |
C |
4: 107,948,518 (GRCm39) |
Y153C |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,547,570 (GRCm39) |
K164R |
probably benign |
Het |
| Siglecf |
A |
G |
7: 43,001,648 (GRCm39) |
T153A |
probably benign |
Het |
| Siglecf |
A |
G |
7: 43,004,967 (GRCm39) |
N399S |
probably benign |
Het |
| Skint2 |
T |
C |
4: 112,504,315 (GRCm39) |
|
probably benign |
Het |
| Slc22a8 |
G |
A |
19: 8,583,503 (GRCm39) |
R236H |
probably damaging |
Het |
| Slc25a40 |
T |
A |
5: 8,492,431 (GRCm39) |
|
probably null |
Het |
| Slc26a5 |
T |
C |
5: 22,021,956 (GRCm39) |
D490G |
possibly damaging |
Het |
| Slc26a7 |
G |
T |
4: 14,522,873 (GRCm39) |
D482E |
probably benign |
Het |
| Smarca2 |
A |
T |
19: 26,601,284 (GRCm39) |
M77L |
probably benign |
Het |
| Sos2 |
A |
G |
12: 69,664,137 (GRCm39) |
L449P |
probably damaging |
Het |
| Spaca1 |
A |
G |
4: 34,044,206 (GRCm39) |
V96A |
probably damaging |
Het |
| Spata31d1b |
T |
A |
13: 59,865,150 (GRCm39) |
I766N |
possibly damaging |
Het |
| Specc1l |
T |
C |
10: 75,145,693 (GRCm39) |
Y1113H |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,365,649 (GRCm39) |
R677G |
probably damaging |
Het |
| Taf5l |
A |
T |
8: 124,724,729 (GRCm39) |
D363E |
probably damaging |
Het |
| Tex56 |
A |
T |
13: 35,116,490 (GRCm39) |
I80F |
possibly damaging |
Het |
| Tmem208 |
A |
G |
8: 106,061,438 (GRCm39) |
K155E |
possibly damaging |
Het |
| Tppp2 |
A |
C |
14: 52,158,062 (GRCm39) |
N169T |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,752,727 (GRCm39) |
|
probably null |
Het |
| Ttll6 |
T |
A |
11: 96,029,700 (GRCm39) |
Y204* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,602,992 (GRCm39) |
I18410K |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,703,149 (GRCm39) |
V205D |
probably damaging |
Het |
| Vdac3 |
A |
T |
8: 23,070,515 (GRCm39) |
I132K |
possibly damaging |
Het |
| Vmn2r95 |
T |
G |
17: 18,672,530 (GRCm39) |
C756G |
probably damaging |
Het |
| Zc3h15 |
A |
G |
2: 83,494,334 (GRCm39) |
T421A |
unknown |
Het |
| Zc3hc1 |
T |
C |
6: 30,374,837 (GRCm39) |
T235A |
probably benign |
Het |
| Zcchc14 |
A |
G |
8: 122,335,990 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,722,366 (GRCm39) |
N1456K |
possibly damaging |
Het |
| Zfp606 |
A |
G |
7: 12,214,858 (GRCm39) |
|
probably benign |
Het |
| Zfp811 |
T |
A |
17: 33,016,399 (GRCm39) |
H546L |
probably damaging |
Het |
| Zfp94 |
A |
T |
7: 24,008,541 (GRCm39) |
Y33N |
probably damaging |
Het |
| Zfyve9 |
G |
T |
4: 108,539,492 (GRCm39) |
|
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 |
|
|
R1899:Rims1
|
UTSW |
1 |
22,498,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Rims1
|
UTSW |
1 |
22,358,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Rims1
|
UTSW |
1 |
22,367,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:Rims1
|
UTSW |
1 |
22,635,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Rims1
|
UTSW |
1 |
22,474,732 (GRCm39) |
nonsense |
probably null |
|
|
R2860:Rims1
|
UTSW |
1 |
22,503,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2861:Rims1
|
UTSW |
1 |
22,503,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2914:Rims1
|
UTSW |
1 |
22,844,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3740:Rims1
|
UTSW |
1 |
22,443,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3741:Rims1
|
UTSW |
1 |
22,443,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Rims1
|
UTSW |
1 |
22,492,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Rims1
|
UTSW |
1 |
22,498,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3901:Rims1
|
UTSW |
1 |
22,572,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3964:Rims1
|
UTSW |
1 |
22,497,709 (GRCm39) |
splice site |
probably null |
|
|
R4037:Rims1
|
UTSW |
1 |
22,514,793 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4039:Rims1
|
UTSW |
1 |
22,514,793 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4056:Rims1
|
UTSW |
1 |
22,363,163 (GRCm39) |
splice site |
probably benign |
|
|
R4062:Rims1
|
UTSW |
1 |
22,572,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4552:Rims1
|
UTSW |
1 |
22,443,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4658:Rims1
|
UTSW |
1 |
22,497,793 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4688:Rims1
|
UTSW |
1 |
22,518,528 (GRCm39) |
nonsense |
probably null |
|
|
R4696:Rims1
|
UTSW |
1 |
22,358,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Rims1
|
UTSW |
1 |
22,497,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4764:Rims1
|
UTSW |
1 |
22,518,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Rims1
|
UTSW |
1 |
22,361,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4931:Rims1
|
UTSW |
1 |
22,573,028 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5137:Rims1
|
UTSW |
1 |
22,358,844 (GRCm39) |
nonsense |
probably null |
|
|
R5153:Rims1
|
UTSW |
1 |
22,522,328 (GRCm39) |
nonsense |
probably null |
|
|
R5305:Rims1
|
UTSW |
1 |
22,635,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5354:Rims1
|
UTSW |
1 |
22,577,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Rims1
|
UTSW |
1 |
22,482,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5485:Rims1
|
UTSW |
1 |
22,522,289 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5643:Rims1
|
UTSW |
1 |
22,577,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Rims1
|
UTSW |
1 |
22,507,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Rims1
|
UTSW |
1 |
22,635,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6160:Rims1
|
UTSW |
1 |
22,503,235 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6579:Rims1
|
UTSW |
1 |
22,496,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6790:Rims1
|
UTSW |
1 |
22,507,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Rims1
|
UTSW |
1 |
22,511,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7100:Rims1
|
UTSW |
1 |
22,416,697 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7155:Rims1
|
UTSW |
1 |
22,503,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7171:Rims1
|
UTSW |
1 |
22,498,740 (GRCm39) |
missense |
|
|
|
R7448:Rims1
|
UTSW |
1 |
22,474,699 (GRCm39) |
missense |
|
|
|
R7505:Rims1
|
UTSW |
1 |
22,573,077 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7567:Rims1
|
UTSW |
1 |
22,507,291 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7639:Rims1
|
UTSW |
1 |
22,844,750 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7955:Rims1
|
UTSW |
1 |
22,507,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8005:Rims1
|
UTSW |
1 |
22,482,437 (GRCm39) |
missense |
|
|
|
R8071:Rims1
|
UTSW |
1 |
22,358,760 (GRCm39) |
nonsense |
probably null |
|
|
R8465:Rims1
|
UTSW |
1 |
22,498,731 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8517:Rims1
|
UTSW |
1 |
22,522,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8703:Rims1
|
UTSW |
1 |
22,496,137 (GRCm39) |
missense |
|
|
|
R8726:Rims1
|
UTSW |
1 |
22,633,181 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9090:Rims1
|
UTSW |
1 |
22,498,773 (GRCm39) |
missense |
|
|
|
R9179:Rims1
|
UTSW |
1 |
22,482,490 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9271:Rims1
|
UTSW |
1 |
22,498,773 (GRCm39) |
missense |
|
|
|
R9291:Rims1
|
UTSW |
1 |
22,467,746 (GRCm39) |
missense |
|
|
|
R9394:Rims1
|
UTSW |
1 |
22,511,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9578:Rims1
|
UTSW |
1 |
22,523,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9614:Rims1
|
UTSW |
1 |
22,491,969 (GRCm39) |
nonsense |
probably null |
|
|
R9726:Rims1
|
UTSW |
1 |
22,669,493 (GRCm39) |
missense |
probably null |
0.21 |
|
Z1088:Rims1
|
UTSW |
1 |
22,358,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Rims1
|
UTSW |
1 |
22,523,752 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Rims1
|
UTSW |
1 |
22,511,858 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1177:Rims1
|
UTSW |
1 |
22,507,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rims1
|
UTSW |
1 |
22,367,163 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Rims1
|
UTSW |
1 |
22,511,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Rims1
|
UTSW |
1 |
22,449,706 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCGATCGCAGAGACACTC -3'
(R):5'- AGCTCTTGACTGAGACCAGAAAG -3'
Sequencing Primer
(F):5'- AGAGACACTCGGCCTCC -3'
(R):5'- CTCTTGACTGAGACCAGAAAGATCAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation