Incidental Mutation 'R7223:Rims2'
| ID |
561974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims2
|
| Ensembl Gene |
ENSMUSG00000037386 |
| Gene Name |
regulating synaptic membrane exocytosis 2 |
| Synonyms |
RIM2, 2810036I15Rik, Syt3-rs |
| MMRRC Submission |
045295-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.539)
|
| Stock # |
R7223 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
39061681-39547768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 39300428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 245
(R245L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042917]
[ENSMUST00000082054]
[ENSMUST00000227243]
[ENSMUST00000228839]
|
| AlphaFold |
Q9EQZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042917
AA Change: R245L
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: R245L
| 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 |
possibly damaging
Transcript: ENSMUST00000082054
AA Change: R285L
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: R285L
| 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: ENSMUST00000227243
AA Change: R245L
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228839
AA Change: R53L
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,104,487 (GRCm39) |
V733E |
probably benign |
Het |
| Adam34 |
A |
T |
8: 44,105,041 (GRCm39) |
N201K |
probably benign |
Het |
| Aldh3b2 |
A |
C |
19: 4,029,592 (GRCm39) |
S322R |
probably damaging |
Het |
| Anpep |
A |
T |
7: 79,475,058 (GRCm39) |
L914Q |
probably damaging |
Het |
| Arhgap30 |
T |
C |
1: 171,235,139 (GRCm39) |
F535S |
probably damaging |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Baz2a |
G |
T |
10: 127,948,475 (GRCm39) |
G252V |
probably damaging |
Het |
| Brinp3 |
T |
A |
1: 146,776,812 (GRCm39) |
S420T |
possibly damaging |
Het |
| Carmil3 |
T |
C |
14: 55,733,695 (GRCm39) |
F359S |
possibly damaging |
Het |
| Ccdc124 |
A |
T |
8: 71,321,170 (GRCm39) |
L190Q |
probably damaging |
Het |
| Ccr6 |
T |
C |
17: 8,474,972 (GRCm39) |
V59A |
probably damaging |
Het |
| Ccr8 |
T |
A |
9: 119,923,683 (GRCm39) |
I266N |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,167,596 (GRCm39) |
E1798V |
probably damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,153,684 (GRCm39) |
N1713S |
probably benign |
Het |
| Cep19 |
T |
A |
16: 31,922,833 (GRCm39) |
I33N |
probably damaging |
Het |
| Cers3 |
A |
T |
7: 66,433,163 (GRCm39) |
Y196F |
probably damaging |
Het |
| Cidea |
T |
C |
18: 67,499,491 (GRCm39) |
I126T |
probably damaging |
Het |
| Copg2 |
A |
T |
6: 30,789,689 (GRCm39) |
Y546* |
probably null |
Het |
| Cul3 |
A |
T |
1: 80,264,717 (GRCm39) |
V261E |
probably benign |
Het |
| Cyp2g1 |
A |
T |
7: 26,514,057 (GRCm39) |
D221V |
probably damaging |
Het |
| Cyp8b1 |
G |
A |
9: 121,744,163 (GRCm39) |
H390Y |
probably damaging |
Het |
| Daam1 |
T |
C |
12: 72,035,717 (GRCm39) |
F971L |
probably damaging |
Het |
| Dnajc24 |
G |
A |
2: 105,832,311 (GRCm39) |
S24L |
possibly damaging |
Het |
| Dpysl3 |
T |
C |
18: 43,571,107 (GRCm39) |
S56G |
probably benign |
Het |
| Esp1 |
A |
G |
17: 41,041,972 (GRCm39) |
D88G |
probably benign |
Het |
| Fam171b |
A |
G |
2: 83,708,574 (GRCm39) |
T359A |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,177,718 (GRCm39) |
E536G |
possibly damaging |
Het |
| Fbxo3 |
T |
C |
2: 103,873,357 (GRCm39) |
V156A |
possibly damaging |
Het |
| Gls2 |
C |
A |
10: 128,035,063 (GRCm39) |
H65Q |
probably benign |
Het |
| Gp2 |
A |
G |
7: 119,050,721 (GRCm39) |
|
probably null |
Het |
| Gpcpd1 |
T |
A |
2: 132,375,976 (GRCm39) |
K435I |
probably benign |
Het |
| Gpx6 |
T |
A |
13: 21,501,840 (GRCm39) |
|
probably null |
Het |
| Hps3 |
A |
T |
3: 20,084,583 (GRCm39) |
S202T |
probably benign |
Het |
| Htr1d |
T |
A |
4: 136,170,812 (GRCm39) |
L347H |
probably damaging |
Het |
| Igfals |
T |
C |
17: 25,100,208 (GRCm39) |
L433P |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,419,530 (GRCm39) |
H537Y |
probably benign |
Het |
| Iqgap2 |
A |
T |
13: 95,765,480 (GRCm39) |
M1530K |
probably damaging |
Het |
| Jarid2 |
A |
G |
13: 45,049,798 (GRCm39) |
T247A |
possibly damaging |
Het |
| L3hypdh |
C |
T |
12: 72,120,783 (GRCm39) |
V323I |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,715,665 (GRCm39) |
T1707I |
possibly damaging |
Het |
| Map6 |
G |
T |
7: 98,917,232 (GRCm39) |
A2S |
probably damaging |
Het |
| Mfap3 |
T |
A |
11: 57,421,066 (GRCm39) |
I349K |
probably benign |
Het |
| Mybl2 |
A |
G |
2: 162,914,625 (GRCm39) |
T248A |
probably benign |
Het |
| N6amt1 |
A |
G |
16: 87,159,548 (GRCm39) |
*151W |
probably null |
Het |
| Nhlrc1 |
A |
G |
13: 47,167,684 (GRCm39) |
V191A |
probably benign |
Het |
| Nkx2-5 |
T |
C |
17: 27,058,594 (GRCm39) |
E120G |
possibly damaging |
Het |
| Or2y10 |
T |
A |
11: 49,454,925 (GRCm39) |
M59K |
probably damaging |
Het |
| Or52r1b |
C |
A |
7: 102,690,839 (GRCm39) |
T46N |
possibly damaging |
Het |
| Or8b41 |
T |
C |
9: 38,055,049 (GRCm39) |
V201A |
probably benign |
Het |
| Or8k28 |
T |
A |
2: 86,286,211 (GRCm39) |
I135F |
possibly damaging |
Het |
| Pcdha8 |
T |
G |
18: 37,126,201 (GRCm39) |
L228V |
probably benign |
Het |
| Pcsk2 |
A |
G |
2: 143,532,253 (GRCm39) |
T134A |
possibly damaging |
Het |
| Phldb3 |
G |
A |
7: 24,324,078 (GRCm39) |
R484Q |
probably benign |
Het |
| Pipox |
A |
G |
11: 77,772,012 (GRCm39) |
S371P |
probably damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,823,343 (GRCm39) |
S159P |
|
Het |
| Psme4 |
C |
T |
11: 30,824,226 (GRCm39) |
P1737S |
probably benign |
Het |
| Pygm |
G |
A |
19: 6,438,893 (GRCm39) |
D328N |
probably benign |
Het |
| Rabgef1 |
A |
T |
5: 130,219,801 (GRCm39) |
E88V |
probably benign |
Het |
| Slc38a4 |
T |
C |
15: 96,908,226 (GRCm39) |
I172V |
probably damaging |
Het |
| Slc4a10 |
T |
A |
2: 62,099,009 (GRCm39) |
Y586N |
probably damaging |
Het |
| Snap91 |
C |
T |
9: 86,761,610 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
C |
T |
19: 50,178,480 (GRCm39) |
V881I |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,601,726 (GRCm39) |
V1512E |
unknown |
Het |
| Sufu |
T |
C |
19: 46,441,716 (GRCm39) |
I292T |
possibly damaging |
Het |
| Tet1 |
T |
C |
10: 62,649,450 (GRCm39) |
N87D |
possibly damaging |
Het |
| Tmem108 |
T |
C |
9: 103,376,733 (GRCm39) |
T239A |
not run |
Het |
| Tmem121 |
A |
T |
12: 113,152,114 (GRCm39) |
K111* |
probably null |
Het |
| Tpp2 |
T |
A |
1: 44,008,048 (GRCm39) |
D417E |
probably damaging |
Het |
| Tpr |
G |
A |
1: 150,315,007 (GRCm39) |
E2025K |
possibly damaging |
Het |
| Trappc3 |
C |
T |
4: 126,168,945 (GRCm39) |
A145V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,721,325 (GRCm39) |
D6754G |
probably null |
Het |
| Unc13c |
T |
A |
9: 73,536,473 (GRCm39) |
M1627L |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,542,414 (GRCm39) |
I3327V |
probably benign |
Het |
| Vmn1r74 |
C |
T |
7: 11,580,894 (GRCm39) |
Q65* |
probably null |
Het |
| Wdr18 |
G |
A |
10: 79,796,202 (GRCm39) |
R69H |
probably damaging |
Het |
| Zbed5 |
G |
T |
5: 129,929,279 (GRCm39) |
D132Y |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,785,448 (GRCm39) |
Y366* |
probably null |
Het |
| Zfyve26 |
T |
C |
12: 79,292,945 (GRCm39) |
N2068S |
probably damaging |
Het |
| Zic2 |
T |
C |
14: 122,713,503 (GRCm39) |
F139S |
probably damaging |
Het |
| Zmynd11 |
T |
C |
13: 9,760,198 (GRCm39) |
Q141R |
probably benign |
Het |
| Zrsr2-ps1 |
A |
G |
11: 22,923,388 (GRCm39) |
E54G |
probably benign |
Het |
| Zscan10 |
G |
A |
17: 23,828,456 (GRCm39) |
D333N |
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 |
|
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'- CTTTCATGACACGTGTGCACC -3'
(R):5'- GGCCTCTCCTGTTAGAATCC -3'
Sequencing Primer
(F):5'- CACACATGGTGTTGTATAGCAATC -3'
(R):5'- CCCTGTAATTTAAATGACCAGGTTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation