Incidental Mutation 'R0212:Sptbn2'
ID |
33585 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sptbn2
|
Ensembl Gene |
ENSMUSG00000067889 |
Gene Name |
spectrin beta, non-erythrocytic 2 |
Synonyms |
Spnb3 |
MMRRC Submission |
038463-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0212 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 4796970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
[ENSMUST00000178353]
|
AlphaFold |
Q68FG2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000008991
|
SMART Domains |
Protein: ENSMUSP00000008991 Gene: ENSMUSG00000067889
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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
G |
A |
5: 36,006,254 (GRCm39) |
|
probably null |
Het |
Adat1 |
T |
A |
8: 112,713,840 (GRCm39) |
D113V |
possibly damaging |
Het |
Arhgap40 |
T |
G |
2: 158,392,495 (GRCm39) |
L656V |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,296,584 (GRCm39) |
I330T |
probably damaging |
Het |
Cad |
A |
G |
5: 31,235,454 (GRCm39) |
D2137G |
probably damaging |
Het |
Cd8a |
G |
A |
6: 71,350,633 (GRCm39) |
E33K |
probably benign |
Het |
Cemip |
C |
A |
7: 83,622,398 (GRCm39) |
G594C |
probably damaging |
Het |
Chd6 |
T |
A |
2: 160,894,767 (GRCm39) |
D31V |
probably damaging |
Het |
Cmpk1 |
A |
T |
4: 114,822,216 (GRCm39) |
M111K |
possibly damaging |
Het |
Crispld2 |
T |
G |
8: 120,737,370 (GRCm39) |
H40Q |
probably benign |
Het |
Depdc5 |
A |
G |
5: 33,069,586 (GRCm39) |
T441A |
probably benign |
Het |
Dpm1 |
T |
C |
2: 168,069,414 (GRCm39) |
N5S |
probably benign |
Het |
Ercc4 |
A |
G |
16: 12,941,196 (GRCm39) |
|
probably null |
Het |
Fam83f |
A |
T |
15: 80,574,779 (GRCm39) |
M229L |
probably benign |
Het |
Fgd5 |
A |
T |
6: 91,965,189 (GRCm39) |
D474V |
probably damaging |
Het |
Fgf21 |
G |
T |
7: 45,263,526 (GRCm39) |
P184Q |
probably benign |
Het |
Fry |
A |
T |
5: 150,419,862 (GRCm39) |
D1008V |
probably damaging |
Het |
Gjd2 |
T |
C |
2: 113,841,953 (GRCm39) |
T175A |
probably benign |
Het |
Gphn |
C |
T |
12: 78,684,326 (GRCm39) |
T577I |
probably damaging |
Het |
Ifi207 |
A |
T |
1: 173,563,964 (GRCm39) |
N18K |
possibly damaging |
Het |
Ifne |
T |
C |
4: 88,797,972 (GRCm39) |
R149G |
possibly damaging |
Het |
Ift80 |
A |
T |
3: 68,847,506 (GRCm39) |
L330H |
probably benign |
Het |
Inpp4b |
A |
T |
8: 82,497,546 (GRCm39) |
H122L |
probably benign |
Het |
Inpp5e |
T |
C |
2: 26,298,352 (GRCm39) |
|
probably null |
Het |
Ism1 |
T |
C |
2: 139,582,177 (GRCm39) |
L163S |
probably benign |
Het |
Itga11 |
T |
A |
9: 62,653,251 (GRCm39) |
V375E |
probably benign |
Het |
Itpr3 |
T |
G |
17: 27,308,293 (GRCm39) |
F306V |
probably damaging |
Het |
Kif19a |
A |
T |
11: 114,675,736 (GRCm39) |
I403F |
possibly damaging |
Het |
Klf12 |
A |
T |
14: 100,260,298 (GRCm39) |
S144T |
probably benign |
Het |
Lyst |
C |
T |
13: 13,810,570 (GRCm39) |
H747Y |
possibly damaging |
Het |
Mccc2 |
A |
G |
13: 100,091,163 (GRCm39) |
Y445H |
probably benign |
Het |
Mei1 |
G |
A |
15: 81,980,132 (GRCm39) |
|
probably null |
Het |
Metap2 |
T |
A |
10: 93,697,242 (GRCm39) |
K479N |
probably damaging |
Het |
Mief2 |
A |
T |
11: 60,621,493 (GRCm39) |
D62V |
probably damaging |
Het |
Mtrf1 |
A |
G |
14: 79,656,719 (GRCm39) |
D407G |
probably benign |
Het |
Myo3a |
A |
G |
2: 22,296,659 (GRCm39) |
R210G |
probably damaging |
Het |
Nkx2-2 |
T |
C |
2: 147,026,090 (GRCm39) |
H216R |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,048,277 (GRCm39) |
E694G |
possibly damaging |
Het |
Nptn |
A |
T |
9: 58,535,164 (GRCm39) |
Y103F |
probably benign |
Het |
Nrxn1 |
A |
G |
17: 90,670,186 (GRCm39) |
|
probably benign |
Het |
Numbl |
T |
C |
7: 26,980,184 (GRCm39) |
S389P |
probably damaging |
Het |
Or10d5 |
A |
G |
9: 39,861,236 (GRCm39) |
V277A |
probably benign |
Het |
Or1q1 |
T |
A |
2: 36,887,644 (GRCm39) |
V274E |
possibly damaging |
Het |
Or1q1 |
A |
T |
2: 36,887,335 (GRCm39) |
D171V |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Or5d16 |
A |
G |
2: 87,773,435 (GRCm39) |
F179S |
probably damaging |
Het |
Or5i1 |
C |
T |
2: 87,613,826 (GRCm39) |
P314L |
unknown |
Het |
Or8g20 |
C |
A |
9: 39,396,384 (GRCm39) |
S55I |
probably damaging |
Het |
Osm |
T |
G |
11: 4,188,465 (GRCm39) |
S31A |
probably benign |
Het |
Paqr4 |
T |
C |
17: 23,957,294 (GRCm39) |
M70V |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,302,064 (GRCm39) |
Y1607N |
probably benign |
Het |
Plec |
A |
C |
15: 76,075,505 (GRCm39) |
Y402* |
probably null |
Het |
Polq |
A |
G |
16: 36,887,216 (GRCm39) |
K1631E |
probably damaging |
Het |
Pou6f1 |
A |
G |
15: 100,478,696 (GRCm39) |
V129A |
possibly damaging |
Het |
Prm2 |
A |
G |
16: 10,609,463 (GRCm39) |
|
probably benign |
Het |
Prtn3 |
A |
G |
10: 79,716,971 (GRCm39) |
Y112C |
probably damaging |
Het |
Qrfp |
T |
A |
2: 31,698,797 (GRCm39) |
H45L |
probably benign |
Het |
Rps6ka5 |
A |
T |
12: 100,519,428 (GRCm39) |
|
probably null |
Het |
Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
Slc10a1 |
A |
C |
12: 81,014,486 (GRCm39) |
L78R |
possibly damaging |
Het |
Slc26a5 |
A |
T |
5: 22,028,547 (GRCm39) |
Y340* |
probably null |
Het |
St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
Tmem131l |
A |
T |
3: 83,820,575 (GRCm39) |
S1226T |
probably benign |
Het |
Togaram2 |
C |
T |
17: 72,031,978 (GRCm39) |
L866F |
probably damaging |
Het |
Txndc17 |
A |
G |
11: 72,098,558 (GRCm39) |
T37A |
probably benign |
Het |
Vmn2r105 |
C |
A |
17: 20,428,827 (GRCm39) |
V750F |
possibly damaging |
Het |
Vmn2r54 |
T |
A |
7: 12,366,424 (GRCm39) |
Y170F |
probably benign |
Het |
Wrnip1 |
T |
C |
13: 33,005,889 (GRCm39) |
V577A |
probably benign |
Het |
Zc3h7b |
A |
G |
15: 81,660,529 (GRCm39) |
T226A |
probably benign |
Het |
Zfp948 |
T |
C |
17: 21,808,422 (GRCm39) |
I538T |
probably benign |
Het |
Zzef1 |
A |
G |
11: 72,764,736 (GRCm39) |
E1401G |
possibly damaging |
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 |
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 |
|
R7469:Sptbn2
|
UTSW |
19 |
4,795,146 (GRCm39) |
missense |
probably benign |
0.00 |
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'- CCGAGTGGAAGGACAGTCTCAATG -3'
(R):5'- CTGGCCTGAATGGCATCAAAACAG -3'
Sequencing Primer
(F):5'- CTGCTGGACACAAGAGGTC -3'
(R):5'- aggatagaatcaccgcttagac -3'
|
Posted On |
2013-05-09 |