Incidental Mutation 'R1779:Rims2'
| ID |
197378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims2
|
| Ensembl Gene |
ENSMUSG00000037386 |
| Gene Name |
regulating synaptic membrane exocytosis 2 |
| Synonyms |
RIM2, 2810036I15Rik, Syt3-rs |
| MMRRC Submission |
039810-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.661)
|
| Stock # |
R1779 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
39061681-39547768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39545098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1531
(T1531A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042917]
[ENSMUST00000082054]
[ENSMUST00000226410]
[ENSMUST00000227243]
|
| AlphaFold |
Q9EQZ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042917
AA Change: T1553A
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: T1553A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Pfam:FYVE_2
|
30 |
154 |
9.5e-18 |
PFAM |
|
low complexity region
|
315 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
540 |
N/A |
INTRINSIC |
|
PDZ
|
646 |
725 |
8.27e-16 |
SMART |
|
low complexity region
|
740 |
748 |
N/A |
INTRINSIC |
|
C2
|
790 |
897 |
4.08e-21 |
SMART |
|
low complexity region
|
905 |
919 |
N/A |
INTRINSIC |
|
low complexity region
|
1085 |
1101 |
N/A |
INTRINSIC |
|
low complexity region
|
1116 |
1130 |
N/A |
INTRINSIC |
|
low complexity region
|
1208 |
1238 |
N/A |
INTRINSIC |
|
C2
|
1432 |
1535 |
3.78e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082054
AA Change: T1511A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: T1511A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Pfam:FYVE_2
|
76 |
194 |
2.2e-11 |
PFAM |
|
low complexity region
|
355 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
580 |
N/A |
INTRINSIC |
|
PDZ
|
686 |
765 |
8.27e-16 |
SMART |
|
low complexity region
|
780 |
788 |
N/A |
INTRINSIC |
|
C2
|
830 |
937 |
4.08e-21 |
SMART |
|
low complexity region
|
945 |
959 |
N/A |
INTRINSIC |
|
low complexity region
|
1075 |
1086 |
N/A |
INTRINSIC |
|
low complexity region
|
1166 |
1196 |
N/A |
INTRINSIC |
|
C2
|
1390 |
1493 |
3.78e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226410
AA Change: T266A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227243
AA Change: T1531A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000227381
AA Change: T1277A
|
| Meta Mutation Damage Score |
0.1196 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 93.0%
|
| Validation Efficiency |
97% (101/104) |
| 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 presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
G |
3: 124,200,163 (GRCm39) |
L476F |
probably damaging |
Het |
| 4930432E11Rik |
A |
T |
7: 29,278,591 (GRCm39) |
|
noncoding transcript |
Het |
| A930011G23Rik |
A |
T |
5: 99,370,897 (GRCm39) |
|
probably benign |
Het |
| Abcd3 |
A |
G |
3: 121,575,612 (GRCm39) |
Y217H |
probably damaging |
Het |
| Abraxas1 |
A |
T |
5: 100,965,822 (GRCm39) |
|
probably benign |
Het |
| Acsbg1 |
T |
C |
9: 54,523,346 (GRCm39) |
Y427C |
probably damaging |
Het |
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Adam10 |
T |
A |
9: 70,683,651 (GRCm39) |
|
probably benign |
Het |
| Adam24 |
G |
A |
8: 41,134,004 (GRCm39) |
V491I |
possibly damaging |
Het |
| Adamts2 |
T |
G |
11: 50,647,524 (GRCm39) |
V299G |
probably damaging |
Het |
| Adh7 |
A |
G |
3: 137,929,752 (GRCm39) |
T143A |
probably damaging |
Het |
| Ahcyl1 |
A |
G |
3: 107,581,419 (GRCm39) |
S81P |
probably benign |
Het |
| Arhgap20 |
C |
A |
9: 51,761,215 (GRCm39) |
T986K |
probably benign |
Het |
| Atp13a5 |
A |
T |
16: 29,133,478 (GRCm39) |
I391N |
possibly damaging |
Het |
| Atp6v0a1 |
C |
A |
11: 100,917,511 (GRCm39) |
A143E |
probably benign |
Het |
| Calcrl |
A |
G |
2: 84,181,629 (GRCm39) |
I173T |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 149,017,394 (GRCm39) |
T228A |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,857,321 (GRCm39) |
I292T |
probably damaging |
Het |
| Ccn5 |
G |
A |
2: 163,670,906 (GRCm39) |
V138M |
probably damaging |
Het |
| Cfhr2 |
T |
A |
1: 139,786,383 (GRCm39) |
|
probably null |
Het |
| Chkb |
T |
C |
15: 89,313,260 (GRCm39) |
I109V |
possibly damaging |
Het |
| Clec2i |
T |
C |
6: 128,865,069 (GRCm39) |
|
probably null |
Het |
| Clec4a4 |
T |
A |
6: 123,000,934 (GRCm39) |
W216R |
probably damaging |
Het |
| Cntnap1 |
A |
C |
11: 101,077,337 (GRCm39) |
I1000L |
probably damaging |
Het |
| Cp |
C |
A |
3: 20,011,549 (GRCm39) |
D34E |
possibly damaging |
Het |
| Cse1l |
T |
C |
2: 166,782,044 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,394,357 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,616,382 (GRCm39) |
V1193A |
probably benign |
Het |
| Eaf2 |
A |
G |
16: 36,630,832 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,611,765 (GRCm39) |
S536T |
probably benign |
Het |
| Ephb2 |
T |
C |
4: 136,421,136 (GRCm39) |
T405A |
possibly damaging |
Het |
| Fam117a |
G |
A |
11: 95,269,779 (GRCm39) |
V348M |
probably damaging |
Het |
| Fh1 |
T |
C |
1: 175,428,990 (GRCm39) |
*167W |
probably null |
Het |
| Fmo9 |
T |
A |
1: 166,490,868 (GRCm39) |
I486F |
probably benign |
Het |
| Gabbr1 |
T |
A |
17: 37,365,771 (GRCm39) |
I150N |
probably damaging |
Het |
| Gfpt1 |
T |
C |
6: 87,054,179 (GRCm39) |
V478A |
possibly damaging |
Het |
| Gm2663 |
A |
T |
6: 40,974,894 (GRCm39) |
V59E |
probably damaging |
Het |
| Gm4868 |
T |
A |
5: 125,925,176 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr4 |
T |
A |
12: 84,026,934 (GRCm39) |
T108S |
probably benign |
Het |
| Hells |
G |
T |
19: 38,935,286 (GRCm39) |
A319S |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,876,780 (GRCm39) |
V1238A |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,880,252 (GRCm39) |
Q488L |
possibly damaging |
Het |
| Hkdc1 |
A |
G |
10: 62,227,162 (GRCm39) |
F765S |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,245,820 (GRCm39) |
W938R |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,060,399 (GRCm39) |
R2473* |
probably null |
Het |
| Kctd1 |
C |
T |
18: 15,194,839 (GRCm39) |
V595I |
probably benign |
Het |
| Krt7 |
A |
G |
15: 101,321,290 (GRCm39) |
Y369C |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,689,364 (GRCm39) |
T323A |
probably benign |
Het |
| Krt76 |
A |
G |
15: 101,801,122 (GRCm39) |
L58P |
unknown |
Het |
| Liph |
C |
A |
16: 21,786,800 (GRCm39) |
R272L |
probably benign |
Het |
| Lrrc9 |
A |
T |
12: 72,502,772 (GRCm39) |
K248* |
probably null |
Het |
| Mei4 |
T |
A |
9: 81,809,195 (GRCm39) |
S93T |
probably damaging |
Het |
| Mgll |
T |
A |
6: 88,790,930 (GRCm39) |
Y183* |
probably null |
Het |
| Myo5b |
A |
G |
18: 74,875,218 (GRCm39) |
M1541V |
probably benign |
Het |
| Napg |
A |
G |
18: 63,115,762 (GRCm39) |
E66G |
probably benign |
Het |
| Npr3 |
T |
C |
15: 11,851,572 (GRCm39) |
D406G |
probably damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,136,224 (GRCm39) |
T355A |
possibly damaging |
Het |
| Or13j1 |
G |
A |
4: 43,706,041 (GRCm39) |
H176Y |
probably damaging |
Het |
| Or4a71 |
A |
T |
2: 89,357,989 (GRCm39) |
I255K |
probably benign |
Het |
| Or51m1 |
G |
T |
7: 103,578,668 (GRCm39) |
V213L |
probably benign |
Het |
| Or51v8 |
A |
G |
7: 103,319,845 (GRCm39) |
I131T |
probably benign |
Het |
| Or52z13 |
A |
T |
7: 103,247,107 (GRCm39) |
I195F |
probably damaging |
Het |
| Or5b107 |
T |
C |
19: 13,142,404 (GRCm39) |
Y9H |
probably benign |
Het |
| Or8d1 |
A |
G |
9: 38,766,846 (GRCm39) |
M163V |
possibly damaging |
Het |
| Orai2 |
T |
C |
5: 136,179,793 (GRCm39) |
E80G |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,535 (GRCm39) |
V547E |
probably damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,609,084 (GRCm39) |
I772T |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,244,630 (GRCm39) |
Q1150R |
probably damaging |
Het |
| Pdcd6 |
A |
G |
13: 74,453,700 (GRCm39) |
I146T |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,621,988 (GRCm39) |
D664V |
probably damaging |
Het |
| Pik3ap1 |
A |
T |
19: 41,320,673 (GRCm39) |
V182E |
probably damaging |
Het |
| Pip4k2a |
A |
G |
2: 18,852,433 (GRCm39) |
V283A |
probably benign |
Het |
| Pkdrej |
A |
G |
15: 85,705,372 (GRCm39) |
V188A |
possibly damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,591,404 (GRCm39) |
W1151R |
probably damaging |
Het |
| Ppp1r14c |
A |
G |
10: 3,316,890 (GRCm39) |
Y75C |
probably damaging |
Het |
| Prl2b1 |
C |
T |
13: 27,567,452 (GRCm39) |
D224N |
probably benign |
Het |
| Ptgis |
A |
G |
2: 167,056,778 (GRCm39) |
S270P |
probably benign |
Het |
| Rgs11 |
C |
A |
17: 26,429,640 (GRCm39) |
A446D |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,526,580 (GRCm39) |
|
probably benign |
Het |
| Scarb2 |
C |
G |
5: 92,596,416 (GRCm39) |
M409I |
probably benign |
Het |
| Scube3 |
C |
T |
17: 28,387,353 (GRCm39) |
|
probably benign |
Het |
| Slc44a4 |
T |
C |
17: 35,140,901 (GRCm39) |
I180T |
probably damaging |
Het |
| Slc9a2 |
T |
C |
1: 40,781,803 (GRCm39) |
M344T |
probably damaging |
Het |
| Smc3 |
A |
T |
19: 53,627,800 (GRCm39) |
T860S |
probably benign |
Het |
| Snrpa |
A |
G |
7: 26,891,174 (GRCm39) |
I99T |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,163,481 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,902,778 (GRCm39) |
|
probably null |
Het |
| Suds3 |
T |
C |
5: 117,243,309 (GRCm39) |
K143R |
probably benign |
Het |
| Supt20 |
A |
T |
3: 54,622,164 (GRCm39) |
M424L |
probably benign |
Het |
| Tgtp2 |
T |
C |
11: 48,949,751 (GRCm39) |
M274V |
probably benign |
Het |
| Tmem158 |
T |
A |
9: 123,088,974 (GRCm39) |
M213L |
probably benign |
Het |
| Tnks |
C |
A |
8: 35,324,672 (GRCm39) |
R639L |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trmt10c |
A |
C |
16: 55,854,938 (GRCm39) |
N232K |
possibly damaging |
Het |
| Trpm6 |
C |
T |
19: 18,833,581 (GRCm39) |
R1587W |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,765,400 (GRCm39) |
V2539I |
probably benign |
Het |
| Tsg101 |
A |
G |
7: 46,556,835 (GRCm39) |
S115P |
probably benign |
Het |
| Ttll13 |
G |
T |
7: 79,910,256 (GRCm39) |
V800L |
probably benign |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,576 (GRCm39) |
T34A |
possibly damaging |
Het |
| Vmn2r118 |
T |
A |
17: 55,918,530 (GRCm39) |
T121S |
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,035,772 (GRCm39) |
I238M |
possibly damaging |
Het |
| Zfp81 |
T |
A |
17: 33,554,080 (GRCm39) |
T245S |
probably benign |
Het |
| Zfyve26 |
G |
T |
12: 79,325,237 (GRCm39) |
P824Q |
probably damaging |
Het |
|
| Other mutations in Rims2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Rims2
|
APN |
15 |
39,323,011 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL00502:Rims2
|
APN |
15 |
39,370,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00556:Rims2
|
APN |
15 |
39,320,070 (GRCm39) |
splice site |
probably null |
|
|
IGL00811:Rims2
|
APN |
15 |
39,155,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00827:Rims2
|
APN |
15 |
39,335,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01642:Rims2
|
APN |
15 |
39,321,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Rims2
|
APN |
15 |
39,398,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03009:Rims2
|
APN |
15 |
39,430,393 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03080:Rims2
|
APN |
15 |
39,399,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03102:Rims2
|
APN |
15 |
39,322,989 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03252:Rims2
|
APN |
15 |
39,315,748 (GRCm39) |
missense |
probably benign |
|
|
IGL03365:Rims2
|
APN |
15 |
39,339,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03393:Rims2
|
APN |
15 |
39,326,009 (GRCm39) |
splice site |
probably null |
|
|
IGL03409:Rims2
|
APN |
15 |
39,320,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
rhyme
|
UTSW |
15 |
39,315,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4486001:Rims2
|
UTSW |
15 |
39,339,916 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0009:Rims2
|
UTSW |
15 |
39,398,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0009:Rims2
|
UTSW |
15 |
39,398,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0078:Rims2
|
UTSW |
15 |
39,398,251 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0367:Rims2
|
UTSW |
15 |
39,326,011 (GRCm39) |
splice site |
probably null |
|
|
R0401:Rims2
|
UTSW |
15 |
39,373,028 (GRCm39) |
splice site |
probably benign |
|
|
R0531:Rims2
|
UTSW |
15 |
39,430,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0791:Rims2
|
UTSW |
15 |
39,543,021 (GRCm39) |
splice site |
probably benign |
|
|
R0838:Rims2
|
UTSW |
15 |
39,544,421 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1201:Rims2
|
UTSW |
15 |
39,479,720 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1318:Rims2
|
UTSW |
15 |
39,381,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1457:Rims2
|
UTSW |
15 |
39,374,710 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1619:Rims2
|
UTSW |
15 |
39,370,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Rims2
|
UTSW |
15 |
39,155,584 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1743:Rims2
|
UTSW |
15 |
39,543,046 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1766:Rims2
|
UTSW |
15 |
39,325,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1804:Rims2
|
UTSW |
15 |
39,300,439 (GRCm39) |
nonsense |
probably null |
|
|
R1985:Rims2
|
UTSW |
15 |
39,208,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1986:Rims2
|
UTSW |
15 |
39,208,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2113:Rims2
|
UTSW |
15 |
39,374,722 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2260:Rims2
|
UTSW |
15 |
39,341,962 (GRCm39) |
nonsense |
probably null |
|
|
R2510:Rims2
|
UTSW |
15 |
39,449,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3693:Rims2
|
UTSW |
15 |
39,341,971 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3937:Rims2
|
UTSW |
15 |
39,301,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Rims2
|
UTSW |
15 |
39,301,320 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4453:Rims2
|
UTSW |
15 |
39,155,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4474:Rims2
|
UTSW |
15 |
39,325,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4518:Rims2
|
UTSW |
15 |
39,300,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4526:Rims2
|
UTSW |
15 |
39,301,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4833:Rims2
|
UTSW |
15 |
39,399,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4936:Rims2
|
UTSW |
15 |
39,301,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4993:Rims2
|
UTSW |
15 |
39,317,841 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5001:Rims2
|
UTSW |
15 |
39,315,824 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5054:Rims2
|
UTSW |
15 |
39,381,265 (GRCm39) |
splice site |
probably null |
|
|
R5072:Rims2
|
UTSW |
15 |
39,325,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5171:Rims2
|
UTSW |
15 |
39,300,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5429:Rims2
|
UTSW |
15 |
39,208,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5623:Rims2
|
UTSW |
15 |
39,342,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Rims2
|
UTSW |
15 |
39,208,809 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5685:Rims2
|
UTSW |
15 |
39,300,602 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5784:Rims2
|
UTSW |
15 |
39,399,383 (GRCm39) |
splice site |
probably null |
|
|
R5790:Rims2
|
UTSW |
15 |
39,544,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Rims2
|
UTSW |
15 |
39,339,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Rims2
|
UTSW |
15 |
39,300,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Rims2
|
UTSW |
15 |
39,155,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Rims2
|
UTSW |
15 |
39,538,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Rims2
|
UTSW |
15 |
39,061,758 (GRCm39) |
start codon destroyed |
unknown |
|
|
R6407:Rims2
|
UTSW |
15 |
39,315,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Rims2
|
UTSW |
15 |
39,373,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6495:Rims2
|
UTSW |
15 |
39,381,208 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6502:Rims2
|
UTSW |
15 |
39,398,251 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6753:Rims2
|
UTSW |
15 |
39,430,369 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6855:Rims2
|
UTSW |
15 |
39,208,911 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6948:Rims2
|
UTSW |
15 |
39,374,737 (GRCm39) |
missense |
probably benign |
|
|
R7058:Rims2
|
UTSW |
15 |
39,449,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7167:Rims2
|
UTSW |
15 |
39,300,473 (GRCm39) |
missense |
probably benign |
|
|
R7217:Rims2
|
UTSW |
15 |
39,339,885 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7223:Rims2
|
UTSW |
15 |
39,300,428 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7289:Rims2
|
UTSW |
15 |
39,301,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7459:Rims2
|
UTSW |
15 |
39,381,235 (GRCm39) |
missense |
probably benign |
|
|
R7663:Rims2
|
UTSW |
15 |
39,370,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Rims2
|
UTSW |
15 |
39,061,923 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7836:Rims2
|
UTSW |
15 |
39,544,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8082:Rims2
|
UTSW |
15 |
39,339,919 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8489:Rims2
|
UTSW |
15 |
39,479,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8730:Rims2
|
UTSW |
15 |
39,381,239 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8830:Rims2
|
UTSW |
15 |
39,300,758 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8857:Rims2
|
UTSW |
15 |
39,543,044 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8893:Rims2
|
UTSW |
15 |
39,398,350 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9010:Rims2
|
UTSW |
15 |
39,315,786 (GRCm39) |
nonsense |
probably null |
|
|
R9030:Rims2
|
UTSW |
15 |
39,339,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Rims2
|
UTSW |
15 |
39,543,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9395:Rims2
|
UTSW |
15 |
39,155,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Rims2
|
UTSW |
15 |
39,300,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9506:Rims2
|
UTSW |
15 |
39,335,832 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0034:Rims2
|
UTSW |
15 |
39,300,930 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Rims2
|
UTSW |
15 |
39,544,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rims2
|
UTSW |
15 |
39,342,086 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Rims2
|
UTSW |
15 |
39,301,165 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCCTTGACAGCAGCTTATTAGC -3'
(R):5'- ACGACTTCCTCTGAGAACACAGGAC -3'
Sequencing Primer
(F):5'- AGCACATTTTCCTGTCTTAGTTATG -3'
(R):5'- AGGACTGCTTGGTATCCCTAGAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation