Incidental Mutation 'R7469:Sptbn2'
ID |
579072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sptbn2
|
Ensembl Gene |
ENSMUSG00000067889 |
Gene Name |
spectrin beta, non-erythrocytic 2 |
Synonyms |
Spnb3 |
MMRRC Submission |
045543-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7469 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4795146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 1535
(K1535E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
[ENSMUST00000178353]
|
AlphaFold |
Q68FG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000008991
AA Change: K1535E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000008991 Gene: ENSMUSG00000067889 AA Change: K1535E
Domain | Start | End | E-Value | Type |
CH
|
59 |
159 |
1.86e-28 |
SMART |
CH
|
178 |
276 |
2.86e-20 |
SMART |
SPEC
|
308 |
414 |
4.63e-1 |
SMART |
SPEC
|
428 |
528 |
3.07e-23 |
SMART |
SPEC
|
534 |
638 |
4.47e-25 |
SMART |
SPEC
|
644 |
744 |
1.28e-25 |
SMART |
SPEC
|
750 |
849 |
4.98e-23 |
SMART |
SPEC
|
855 |
955 |
1.63e-18 |
SMART |
SPEC
|
961 |
1062 |
1.45e-24 |
SMART |
SPEC
|
1068 |
1169 |
4.15e-20 |
SMART |
SPEC
|
1175 |
1275 |
5.26e-22 |
SMART |
SPEC
|
1281 |
1380 |
1.17e-19 |
SMART |
SPEC
|
1386 |
1485 |
2.06e-24 |
SMART |
SPEC
|
1491 |
1585 |
1.74e-22 |
SMART |
SPEC
|
1591 |
1691 |
5.42e-24 |
SMART |
SPEC
|
1697 |
1798 |
2.1e-21 |
SMART |
SPEC
|
1804 |
1904 |
5.47e-20 |
SMART |
SPEC
|
1910 |
2010 |
1.99e-22 |
SMART |
SPEC
|
2016 |
2256 |
2.92e-6 |
SMART |
PH
|
2219 |
2330 |
1.65e-14 |
SMART |
low complexity region
|
2373 |
2386 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178353
|
SMART Domains |
Protein: ENSMUSP00000136599 Gene: ENSMUSG00000096370
Domain | Start | End | E-Value | Type |
RRM
|
2 |
69 |
1.96e-17 |
SMART |
Pfam:RRM_1
|
81 |
118 |
5.6e-7 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (77/79) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009] PHENOTYPE: Homozygous hypomorphic mutants exhibit a progressive ataxic phenotype with gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning) and age-related reduction in simple firing ratein surviving Purkinje cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,259,014 (GRCm39) |
L443P |
probably damaging |
Het |
Abtb2 |
T |
C |
2: 103,397,292 (GRCm39) |
V74A |
probably benign |
Het |
Adam5 |
A |
T |
8: 25,305,541 (GRCm39) |
F66I |
probably benign |
Het |
Aff1 |
T |
A |
5: 103,981,413 (GRCm39) |
D517E |
probably benign |
Het |
Agbl3 |
A |
G |
6: 34,791,349 (GRCm39) |
K559R |
probably damaging |
Het |
Aldh1l2 |
A |
C |
10: 83,343,969 (GRCm39) |
V482G |
probably damaging |
Het |
Ankra2 |
C |
T |
13: 98,402,882 (GRCm39) |
A43V |
probably benign |
Het |
Ankrd50 |
C |
A |
3: 38,508,342 (GRCm39) |
V419F |
probably damaging |
Het |
Arhgef16 |
G |
A |
4: 154,375,763 (GRCm39) |
T77M |
probably damaging |
Het |
Best3 |
T |
C |
10: 116,840,290 (GRCm39) |
V240A |
probably damaging |
Het |
Btbd7 |
T |
C |
12: 102,779,027 (GRCm39) |
Y413C |
probably damaging |
Het |
Bzw2 |
A |
T |
12: 36,157,550 (GRCm39) |
V305E |
probably damaging |
Het |
Cacng8 |
G |
A |
7: 3,463,621 (GRCm39) |
A258T |
possibly damaging |
Het |
Cfap157 |
T |
C |
2: 32,670,696 (GRCm39) |
Y184C |
probably damaging |
Het |
Chmp3 |
T |
A |
6: 71,556,652 (GRCm39) |
V184E |
possibly damaging |
Het |
Cst5 |
C |
T |
2: 149,247,496 (GRCm39) |
L71F |
probably benign |
Het |
Ctdspl2 |
A |
T |
2: 121,837,362 (GRCm39) |
E376D |
possibly damaging |
Het |
Cyfip1 |
A |
G |
7: 55,527,468 (GRCm39) |
D200G |
possibly damaging |
Het |
Cylc2 |
T |
A |
4: 51,227,970 (GRCm39) |
|
probably null |
Het |
Cyp2c66 |
T |
A |
19: 39,172,307 (GRCm39) |
F407L |
probably damaging |
Het |
Dcp2 |
T |
C |
18: 44,529,019 (GRCm39) |
F45L |
probably damaging |
Het |
Dhx34 |
C |
T |
7: 15,950,364 (GRCm39) |
R268H |
probably benign |
Het |
Dnajc7 |
A |
T |
11: 100,482,377 (GRCm39) |
M205K |
probably benign |
Het |
Dzip3 |
C |
T |
16: 48,765,242 (GRCm39) |
V491M |
probably benign |
Het |
Farp1 |
T |
C |
14: 121,512,833 (GRCm39) |
L777P |
probably damaging |
Het |
Fchsd2 |
T |
G |
7: 100,927,863 (GRCm39) |
|
probably null |
Het |
Fer1l6 |
A |
T |
15: 58,462,419 (GRCm39) |
|
probably null |
Het |
Fhip1a |
T |
C |
3: 85,580,069 (GRCm39) |
D712G |
probably benign |
Het |
Fitm2 |
A |
G |
2: 163,311,742 (GRCm39) |
F157S |
probably damaging |
Het |
Flt1 |
G |
T |
5: 147,540,379 (GRCm39) |
A770E |
probably damaging |
Het |
Flt3 |
T |
A |
5: 147,268,084 (GRCm39) |
E967V |
probably benign |
Het |
Foxc1 |
G |
C |
13: 31,992,361 (GRCm39) |
A391P |
unknown |
Het |
Foxc1 |
C |
T |
13: 31,992,362 (GRCm39) |
A391V |
unknown |
Het |
Gimap6 |
T |
A |
6: 48,679,392 (GRCm39) |
T215S |
probably benign |
Het |
Gm2431 |
A |
T |
7: 141,811,518 (GRCm39) |
C129S |
unknown |
Het |
Itpr3 |
T |
C |
17: 27,340,028 (GRCm39) |
S2636P |
possibly damaging |
Het |
Lsg1 |
A |
G |
16: 30,380,635 (GRCm39) |
Y601H |
probably benign |
Het |
Map4 |
G |
T |
9: 109,856,865 (GRCm39) |
|
probably null |
Het |
Mga |
T |
C |
2: 119,733,527 (GRCm39) |
M125T |
probably damaging |
Het |
Mxi1 |
A |
G |
19: 53,360,091 (GRCm39) |
D271G |
probably damaging |
Het |
Ndst3 |
T |
A |
3: 123,465,310 (GRCm39) |
T221S |
possibly damaging |
Het |
Neto1 |
T |
A |
18: 86,516,813 (GRCm39) |
S377T |
probably benign |
Het |
Nkx6-2 |
T |
C |
7: 139,161,555 (GRCm39) |
E210G |
probably damaging |
Het |
Nos2 |
G |
T |
11: 78,843,797 (GRCm39) |
V915F |
possibly damaging |
Het |
Nrros |
G |
A |
16: 31,963,030 (GRCm39) |
A329V |
probably benign |
Het |
Numb |
T |
C |
12: 83,850,578 (GRCm39) |
K211E |
probably benign |
Het |
Nup210 |
T |
A |
6: 90,995,874 (GRCm39) |
I1671F |
probably benign |
Het |
Or12j3 |
G |
A |
7: 139,953,050 (GRCm39) |
L158F |
possibly damaging |
Het |
Or4c106 |
T |
A |
2: 88,682,847 (GRCm39) |
D184E |
probably benign |
Het |
Or4c31 |
T |
A |
2: 88,291,691 (GRCm39) |
H2Q |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,481,812 (GRCm39) |
M386L |
probably benign |
Het |
Pcdhb3 |
C |
A |
18: 37,434,388 (GRCm39) |
T118K |
probably benign |
Het |
Pcdhb8 |
A |
T |
18: 37,489,011 (GRCm39) |
I230F |
probably damaging |
Het |
Peli2 |
G |
A |
14: 48,488,015 (GRCm39) |
V120I |
probably benign |
Het |
Pramel15 |
T |
A |
4: 144,099,673 (GRCm39) |
Q364L |
probably damaging |
Het |
Pramel7 |
T |
A |
2: 87,321,748 (GRCm39) |
M96L |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,355,293 (GRCm39) |
S1531R |
probably damaging |
Het |
Prpf31 |
A |
G |
7: 3,636,392 (GRCm39) |
T138A |
possibly damaging |
Het |
Psme4 |
C |
T |
11: 30,752,837 (GRCm39) |
T175I |
probably benign |
Het |
Rasgrf2 |
A |
G |
13: 92,165,530 (GRCm39) |
|
probably null |
Het |
Rps19 |
T |
A |
7: 24,589,190 (GRCm39) |
*146K |
probably null |
Het |
Rsu1 |
T |
C |
2: 13,082,371 (GRCm39) |
N260S |
probably benign |
Het |
Serpina3k |
T |
C |
12: 104,311,594 (GRCm39) |
C391R |
not run |
Het |
Sipa1l1 |
T |
G |
12: 82,467,438 (GRCm39) |
|
probably null |
Het |
Snd1 |
T |
A |
6: 28,626,126 (GRCm39) |
Y394N |
probably damaging |
Het |
Spaca4 |
A |
T |
7: 45,374,831 (GRCm39) |
V57E |
probably damaging |
Het |
Spata31d1b |
A |
G |
13: 59,863,278 (GRCm39) |
Y142C |
probably benign |
Het |
Srcin1 |
A |
G |
11: 97,425,435 (GRCm39) |
S541P |
probably damaging |
Het |
Tc2n |
A |
T |
12: 101,631,934 (GRCm39) |
F308I |
probably damaging |
Het |
Tdrd5 |
T |
C |
1: 156,090,475 (GRCm39) |
D857G |
probably benign |
Het |
Timm22 |
A |
G |
11: 76,298,134 (GRCm39) |
D35G |
probably benign |
Het |
Tram1l1 |
C |
A |
3: 124,114,889 (GRCm39) |
H16Q |
probably benign |
Het |
Uggt1 |
T |
C |
1: 36,190,814 (GRCm39) |
Y1382C |
probably damaging |
Het |
Usp32 |
G |
T |
11: 84,879,379 (GRCm39) |
D1443E |
possibly damaging |
Het |
Uty |
A |
T |
Y: 1,131,072 (GRCm39) |
C1046S |
possibly damaging |
Het |
Wdr31 |
T |
A |
4: 62,375,768 (GRCm39) |
Q230L |
probably damaging |
Het |
Wnt8b |
C |
A |
19: 44,500,001 (GRCm39) |
T196K |
possibly damaging |
Het |
Xpo4 |
A |
T |
14: 57,835,436 (GRCm39) |
H628Q |
probably benign |
Het |
Zfp780b |
C |
T |
7: 27,663,382 (GRCm39) |
S391N |
probably benign |
Het |
|
Other mutations in Sptbn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00421:Sptbn2
|
APN |
19 |
4,774,733 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00688:Sptbn2
|
APN |
19 |
4,775,966 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01339:Sptbn2
|
APN |
19 |
4,796,000 (GRCm39) |
nonsense |
probably null |
|
IGL01373:Sptbn2
|
APN |
19 |
4,796,000 (GRCm39) |
nonsense |
probably null |
|
IGL01420:Sptbn2
|
APN |
19 |
4,784,153 (GRCm39) |
missense |
probably benign |
|
IGL01456:Sptbn2
|
APN |
19 |
4,796,777 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01953:Sptbn2
|
APN |
19 |
4,799,721 (GRCm39) |
missense |
probably benign |
|
IGL03026:Sptbn2
|
APN |
19 |
4,774,261 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03275:Sptbn2
|
APN |
19 |
4,782,689 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL03286:Sptbn2
|
APN |
19 |
4,797,860 (GRCm39) |
missense |
probably damaging |
0.97 |
F5770:Sptbn2
|
UTSW |
19 |
4,800,660 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4696001:Sptbn2
|
UTSW |
19 |
4,795,605 (GRCm39) |
missense |
probably benign |
0.00 |
R0046:Sptbn2
|
UTSW |
19 |
4,795,405 (GRCm39) |
intron |
probably benign |
|
R0046:Sptbn2
|
UTSW |
19 |
4,795,405 (GRCm39) |
intron |
probably benign |
|
R0121:Sptbn2
|
UTSW |
19 |
4,795,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R0127:Sptbn2
|
UTSW |
19 |
4,774,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R0212:Sptbn2
|
UTSW |
19 |
4,796,970 (GRCm39) |
critical splice donor site |
probably null |
|
R0277:Sptbn2
|
UTSW |
19 |
4,795,173 (GRCm39) |
missense |
probably benign |
0.28 |
R0417:Sptbn2
|
UTSW |
19 |
4,787,954 (GRCm39) |
missense |
probably benign |
0.01 |
R0457:Sptbn2
|
UTSW |
19 |
4,795,966 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0536:Sptbn2
|
UTSW |
19 |
4,776,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R0631:Sptbn2
|
UTSW |
19 |
4,790,014 (GRCm39) |
missense |
probably benign |
0.01 |
R0734:Sptbn2
|
UTSW |
19 |
4,798,151 (GRCm39) |
nonsense |
probably null |
|
R0742:Sptbn2
|
UTSW |
19 |
4,769,011 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1195:Sptbn2
|
UTSW |
19 |
4,795,921 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1195:Sptbn2
|
UTSW |
19 |
4,795,921 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1195:Sptbn2
|
UTSW |
19 |
4,795,921 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1364:Sptbn2
|
UTSW |
19 |
4,782,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R1495:Sptbn2
|
UTSW |
19 |
4,769,004 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1498:Sptbn2
|
UTSW |
19 |
4,794,274 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1606:Sptbn2
|
UTSW |
19 |
4,800,270 (GRCm39) |
critical splice donor site |
probably null |
|
R1678:Sptbn2
|
UTSW |
19 |
4,800,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R1746:Sptbn2
|
UTSW |
19 |
4,795,992 (GRCm39) |
nonsense |
probably null |
|
R1820:Sptbn2
|
UTSW |
19 |
4,776,624 (GRCm39) |
missense |
probably damaging |
0.98 |
R1830:Sptbn2
|
UTSW |
19 |
4,782,569 (GRCm39) |
missense |
probably benign |
0.09 |
R1863:Sptbn2
|
UTSW |
19 |
4,782,713 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1967:Sptbn2
|
UTSW |
19 |
4,795,327 (GRCm39) |
missense |
probably benign |
0.00 |
R2085:Sptbn2
|
UTSW |
19 |
4,788,587 (GRCm39) |
missense |
probably benign |
0.09 |
R2301:Sptbn2
|
UTSW |
19 |
4,784,166 (GRCm39) |
missense |
probably benign |
0.00 |
R2310:Sptbn2
|
UTSW |
19 |
4,768,963 (GRCm39) |
missense |
probably benign |
0.19 |
R2888:Sptbn2
|
UTSW |
19 |
4,798,664 (GRCm39) |
missense |
possibly damaging |
0.52 |
R3788:Sptbn2
|
UTSW |
19 |
4,795,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4429:Sptbn2
|
UTSW |
19 |
4,788,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R4536:Sptbn2
|
UTSW |
19 |
4,782,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R4662:Sptbn2
|
UTSW |
19 |
4,789,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R4672:Sptbn2
|
UTSW |
19 |
4,782,524 (GRCm39) |
missense |
probably benign |
0.25 |
R4731:Sptbn2
|
UTSW |
19 |
4,792,508 (GRCm39) |
missense |
probably damaging |
0.96 |
R4747:Sptbn2
|
UTSW |
19 |
4,798,182 (GRCm39) |
missense |
probably benign |
0.27 |
R4889:Sptbn2
|
UTSW |
19 |
4,779,458 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4891:Sptbn2
|
UTSW |
19 |
4,788,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R4965:Sptbn2
|
UTSW |
19 |
4,779,337 (GRCm39) |
missense |
probably benign |
0.13 |
R4968:Sptbn2
|
UTSW |
19 |
4,779,230 (GRCm39) |
splice site |
probably null |
|
R4981:Sptbn2
|
UTSW |
19 |
4,801,686 (GRCm39) |
missense |
probably benign |
0.22 |
R5159:Sptbn2
|
UTSW |
19 |
4,787,885 (GRCm39) |
missense |
probably benign |
0.12 |
R5202:Sptbn2
|
UTSW |
19 |
4,774,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R5253:Sptbn2
|
UTSW |
19 |
4,800,110 (GRCm39) |
missense |
probably benign |
0.01 |
R5294:Sptbn2
|
UTSW |
19 |
4,768,936 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5465:Sptbn2
|
UTSW |
19 |
4,800,133 (GRCm39) |
missense |
probably benign |
0.00 |
R5546:Sptbn2
|
UTSW |
19 |
4,775,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R5593:Sptbn2
|
UTSW |
19 |
4,798,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R5780:Sptbn2
|
UTSW |
19 |
4,774,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R5835:Sptbn2
|
UTSW |
19 |
4,788,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R6008:Sptbn2
|
UTSW |
19 |
4,789,306 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6108:Sptbn2
|
UTSW |
19 |
4,781,420 (GRCm39) |
critical splice donor site |
probably null |
|
R6236:Sptbn2
|
UTSW |
19 |
4,798,166 (GRCm39) |
missense |
probably benign |
0.01 |
R6307:Sptbn2
|
UTSW |
19 |
4,774,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R6383:Sptbn2
|
UTSW |
19 |
4,782,524 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6397:Sptbn2
|
UTSW |
19 |
4,792,446 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6453:Sptbn2
|
UTSW |
19 |
4,794,208 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6561:Sptbn2
|
UTSW |
19 |
4,797,954 (GRCm39) |
missense |
probably benign |
0.39 |
R6564:Sptbn2
|
UTSW |
19 |
4,782,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R6644:Sptbn2
|
UTSW |
19 |
4,799,040 (GRCm39) |
missense |
probably benign |
0.05 |
R6703:Sptbn2
|
UTSW |
19 |
4,799,843 (GRCm39) |
missense |
probably benign |
|
R6703:Sptbn2
|
UTSW |
19 |
4,799,842 (GRCm39) |
missense |
probably benign |
|
R6753:Sptbn2
|
UTSW |
19 |
4,797,813 (GRCm39) |
missense |
probably benign |
0.01 |
R7007:Sptbn2
|
UTSW |
19 |
4,794,173 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7131:Sptbn2
|
UTSW |
19 |
4,799,488 (GRCm39) |
missense |
probably null |
|
R7219:Sptbn2
|
UTSW |
19 |
4,774,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R7285:Sptbn2
|
UTSW |
19 |
4,787,471 (GRCm39) |
missense |
probably benign |
0.00 |
R7308:Sptbn2
|
UTSW |
19 |
4,801,602 (GRCm39) |
missense |
probably benign |
|
R7502:Sptbn2
|
UTSW |
19 |
4,798,110 (GRCm39) |
missense |
probably benign |
0.02 |
R7623:Sptbn2
|
UTSW |
19 |
4,776,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R7635:Sptbn2
|
UTSW |
19 |
4,794,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R7733:Sptbn2
|
UTSW |
19 |
4,799,040 (GRCm39) |
missense |
probably benign |
0.05 |
R7738:Sptbn2
|
UTSW |
19 |
4,774,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R7742:Sptbn2
|
UTSW |
19 |
4,799,040 (GRCm39) |
missense |
probably benign |
0.05 |
R7767:Sptbn2
|
UTSW |
19 |
4,784,171 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7795:Sptbn2
|
UTSW |
19 |
4,799,040 (GRCm39) |
missense |
probably benign |
0.05 |
R7796:Sptbn2
|
UTSW |
19 |
4,799,040 (GRCm39) |
missense |
probably benign |
0.05 |
R7871:Sptbn2
|
UTSW |
19 |
4,799,040 (GRCm39) |
missense |
probably benign |
0.05 |
R7877:Sptbn2
|
UTSW |
19 |
4,794,290 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7920:Sptbn2
|
UTSW |
19 |
4,799,040 (GRCm39) |
missense |
probably benign |
0.05 |
R7921:Sptbn2
|
UTSW |
19 |
4,799,040 (GRCm39) |
missense |
probably benign |
0.05 |
R7923:Sptbn2
|
UTSW |
19 |
4,796,827 (GRCm39) |
missense |
probably benign |
0.01 |
R8137:Sptbn2
|
UTSW |
19 |
4,787,431 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8305:Sptbn2
|
UTSW |
19 |
4,779,158 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8695:Sptbn2
|
UTSW |
19 |
4,796,724 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8790:Sptbn2
|
UTSW |
19 |
4,782,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R9125:Sptbn2
|
UTSW |
19 |
4,784,241 (GRCm39) |
missense |
probably benign |
0.04 |
R9483:Sptbn2
|
UTSW |
19 |
4,789,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R9620:Sptbn2
|
UTSW |
19 |
4,800,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R9631:Sptbn2
|
UTSW |
19 |
4,788,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R9646:Sptbn2
|
UTSW |
19 |
4,795,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R9694:Sptbn2
|
UTSW |
19 |
4,800,535 (GRCm39) |
missense |
probably damaging |
0.99 |
V7580:Sptbn2
|
UTSW |
19 |
4,800,660 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Sptbn2
|
UTSW |
19 |
4,795,219 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Sptbn2
|
UTSW |
19 |
4,788,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCCGGAGTCTTGACAAAG -3'
(R):5'- TGGCCCATCATGTGTAACTC -3'
Sequencing Primer
(F):5'- GAGTCTTTGAGAGGATTCAGAAAAG -3'
(R):5'- CATCACGATAGAATTGCTGGGCTC -3'
|
Posted On |
2019-10-07 |