Incidental Mutation 'R9451:Rims2'
| ID |
714281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims2
|
| Ensembl Gene |
ENSMUSG00000037386 |
| Gene Name |
regulating synaptic membrane exocytosis 2 |
| Synonyms |
RIM2, 2810036I15Rik, Syt3-rs |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.539)
|
| Stock # |
R9451 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
39061681-39547768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 39300724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 344
(V344L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042917]
[ENSMUST00000082054]
[ENSMUST00000227243]
[ENSMUST00000228839]
|
| AlphaFold |
Q9EQZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042917
AA Change: V344L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: V344L
| 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: V384L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: V384L
| 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 damaging
Transcript: ENSMUST00000227243
AA Change: V344L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228839
AA Change: V152L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (73/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh8a1 |
T |
A |
10: 21,265,032 (GRCm39) |
S220T |
probably benign |
Het |
| Ankrd66 |
A |
G |
17: 43,845,811 (GRCm39) |
V192A |
probably benign |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,774 (GRCm39) |
Y594C |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,103,494 (GRCm39) |
Y1009H |
probably benign |
Het |
| Bptf |
A |
C |
11: 106,935,411 (GRCm39) |
M142R |
probably damaging |
Het |
| Brwd1 |
C |
T |
16: 95,845,703 (GRCm39) |
R740Q |
probably damaging |
Het |
| C3 |
A |
G |
17: 57,531,169 (GRCm39) |
M339T |
probably benign |
Het |
| Catsperg1 |
A |
G |
7: 28,897,772 (GRCm39) |
|
probably null |
Het |
| Cep295nl |
T |
A |
11: 118,224,446 (GRCm39) |
K133* |
probably null |
Het |
| Copg2 |
A |
T |
6: 30,793,786 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,488,402 (GRCm39) |
D89E |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Ddx54 |
G |
T |
5: 120,765,209 (GRCm39) |
R826L |
probably damaging |
Het |
| Dlg4 |
G |
T |
11: 69,922,065 (GRCm39) |
K162N |
probably damaging |
Het |
| Dna2 |
T |
A |
10: 62,790,072 (GRCm39) |
L185H |
probably benign |
Het |
| Dock9 |
C |
T |
14: 121,787,601 (GRCm39) |
|
probably benign |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Etl4 |
A |
G |
2: 20,813,926 (GRCm39) |
I1322V |
probably benign |
Het |
| Exd1 |
T |
C |
2: 119,355,064 (GRCm39) |
K284E |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,445,462 (GRCm39) |
T786A |
probably damaging |
Het |
| Gm29106 |
A |
C |
1: 118,127,644 (GRCm39) |
E445D |
possibly damaging |
Het |
| Gm5592 |
T |
C |
7: 40,935,876 (GRCm39) |
L126P |
probably damaging |
Het |
| Grep1 |
A |
G |
17: 23,936,187 (GRCm39) |
Y19H |
unknown |
Het |
| Gtf3c2 |
T |
G |
5: 31,325,773 (GRCm39) |
T389P |
probably damaging |
Het |
| Hhipl1 |
C |
A |
12: 108,294,100 (GRCm39) |
R669S |
probably benign |
Het |
| Hivep1 |
A |
G |
13: 42,337,252 (GRCm39) |
T2444A |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,238,380 (GRCm39) |
E289G |
probably damaging |
Het |
| Htatip2 |
C |
A |
7: 49,408,987 (GRCm39) |
T9K |
unknown |
Het |
| Ifngr1 |
T |
C |
10: 19,483,041 (GRCm39) |
V265A |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,252,925 (GRCm39) |
N359D |
probably benign |
Het |
| Mat1a |
A |
G |
14: 40,836,803 (GRCm39) |
R178G |
probably damaging |
Het |
| Mknk2 |
C |
T |
10: 80,505,496 (GRCm39) |
R154H |
probably benign |
Het |
| Myh14 |
C |
T |
7: 44,273,743 (GRCm39) |
|
probably null |
Het |
| Myof |
A |
G |
19: 37,966,096 (GRCm39) |
|
probably null |
Het |
| Nfe2l1 |
G |
T |
11: 96,718,453 (GRCm39) |
D27E |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,859,950 (GRCm39) |
Y35C |
|
Het |
| Or4a15 |
A |
T |
2: 89,193,243 (GRCm39) |
C177S |
probably damaging |
Het |
| Or4k51 |
T |
C |
2: 111,585,218 (GRCm39) |
V208A |
probably benign |
Het |
| Or5p61 |
A |
G |
7: 107,758,468 (GRCm39) |
V204A |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,238,144 (GRCm39) |
V242A |
possibly damaging |
Het |
| Plec |
C |
A |
15: 76,067,987 (GRCm39) |
Q1139H |
unknown |
Het |
| Plxna2 |
T |
A |
1: 194,326,692 (GRCm39) |
S209T |
probably benign |
Het |
| Plxnd1 |
T |
C |
6: 115,940,277 (GRCm39) |
E1369G |
possibly damaging |
Het |
| Psd3 |
T |
C |
8: 68,363,487 (GRCm39) |
I3V |
unknown |
Het |
| Pwp1 |
T |
A |
10: 85,714,428 (GRCm39) |
F195L |
probably damaging |
Het |
| Rab3ip |
C |
T |
10: 116,775,354 (GRCm39) |
M1I |
probably null |
Het |
| Rad54l2 |
T |
C |
9: 106,585,488 (GRCm39) |
K759R |
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,803,718 (GRCm39) |
R1088Q |
probably benign |
Het |
| Rtf2 |
A |
G |
2: 172,282,745 (GRCm39) |
|
probably benign |
Het |
| Serhl |
A |
C |
15: 82,987,167 (GRCm39) |
K131N |
possibly damaging |
Het |
| Sidt1 |
T |
A |
16: 44,075,392 (GRCm39) |
|
probably null |
Het |
| Slc27a1 |
T |
A |
8: 72,032,808 (GRCm39) |
Y248* |
probably null |
Het |
| Slitrk3 |
T |
A |
3: 72,958,616 (GRCm39) |
E52V |
possibly damaging |
Het |
| Snx2 |
T |
C |
18: 53,343,415 (GRCm39) |
V271A |
probably benign |
Het |
| Snx9 |
C |
A |
17: 5,949,768 (GRCm39) |
P156Q |
probably damaging |
Het |
| Spag6 |
C |
A |
2: 18,715,369 (GRCm39) |
Y71* |
probably null |
Het |
| Speer4a3 |
T |
A |
5: 26,156,569 (GRCm39) |
K137* |
probably null |
Het |
| Speg |
A |
G |
1: 75,394,377 (GRCm39) |
D1724G |
probably damaging |
Het |
| Syt7 |
A |
G |
19: 10,421,532 (GRCm39) |
N572S |
probably damaging |
Het |
| Thoc2l |
C |
A |
5: 104,668,644 (GRCm39) |
S1055R |
probably benign |
Het |
| Ticam2 |
A |
G |
18: 46,693,766 (GRCm39) |
I107T |
probably damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tmem268 |
G |
A |
4: 63,488,256 (GRCm39) |
V135M |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,611,663 (GRCm39) |
T519A |
possibly damaging |
Het |
| Trim43b |
G |
A |
9: 88,973,608 (GRCm39) |
L42F |
possibly damaging |
Het |
| Ttf2 |
A |
C |
3: 100,852,089 (GRCm39) |
V1019G |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,292,158 (GRCm39) |
D97G |
probably benign |
Het |
| Uncx |
A |
G |
5: 139,532,475 (GRCm39) |
N180S |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,352 (GRCm39) |
T552A |
probably damaging |
Het |
| Vmn2r51 |
A |
T |
7: 9,833,816 (GRCm39) |
H407Q |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,855,518 (GRCm39) |
E699K |
|
Het |
| Wdr95 |
A |
G |
5: 149,504,165 (GRCm39) |
T324A |
probably benign |
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 |
|
R1779:Rims2
|
UTSW |
15 |
39,545,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GCTGATAGACGATCTCAGCGTG -3'
(R):5'- GGTTTTCCATTGCAGCTCTACG -3'
Sequencing Primer
(F):5'- GAGCCTCAATTTTATGAAGAACCTGG -3'
(R):5'- TGCAGCTCTACGTTCAGATACAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation