Incidental Mutation 'R0127:Sptbn2'
| ID |
21493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
038412-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0127 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
19 |
| Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4774772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 142
(V142L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
|
| AlphaFold |
Q68FG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008991
AA Change: V142L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: V142L
| 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 |
|
| Meta Mutation Damage Score |
0.5396 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
| Validation Efficiency |
99% (85/86) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
T |
C |
16: 88,504,342 (GRCm39) |
T152A |
probably benign |
Het |
| Abca1 |
T |
C |
4: 53,067,155 (GRCm39) |
I1351V |
probably benign |
Het |
| Acap1 |
A |
T |
11: 69,778,043 (GRCm39) |
|
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,720,935 (GRCm39) |
L521P |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,510,384 (GRCm39) |
D661G |
probably benign |
Het |
| Atp6v1b2 |
T |
A |
8: 69,556,112 (GRCm39) |
N262K |
probably damaging |
Het |
| Baz1a |
T |
A |
12: 54,945,491 (GRCm39) |
D1288V |
possibly damaging |
Het |
| Bbs1 |
A |
T |
19: 4,945,057 (GRCm39) |
D371E |
probably benign |
Het |
| Bphl |
A |
G |
13: 34,248,029 (GRCm39) |
|
probably benign |
Het |
| Caskin2 |
C |
A |
11: 115,691,820 (GRCm39) |
R988S |
probably damaging |
Het |
| Cbr1 |
C |
A |
16: 93,406,875 (GRCm39) |
T197N |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,901,999 (GRCm39) |
E1213G |
possibly damaging |
Het |
| Ccna1 |
A |
G |
3: 54,957,169 (GRCm39) |
F83L |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,372,787 (GRCm39) |
|
probably benign |
Het |
| Cep89 |
C |
A |
7: 35,127,687 (GRCm39) |
T543K |
possibly damaging |
Het |
| Cmtm7 |
T |
C |
9: 114,610,738 (GRCm39) |
M45V |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,946,650 (GRCm39) |
V91E |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,845,326 (GRCm39) |
N920S |
probably benign |
Het |
| Cyp26b1 |
A |
G |
6: 84,554,190 (GRCm39) |
|
probably benign |
Het |
| Dao |
T |
A |
5: 114,158,024 (GRCm39) |
H215Q |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,313,617 (GRCm39) |
D885G |
probably benign |
Het |
| Dlx4 |
T |
G |
11: 95,032,055 (GRCm39) |
M240L |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,295,071 (GRCm39) |
P1351L |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,015,717 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,083,491 (GRCm39) |
D139E |
probably benign |
Het |
| Dynlt5 |
T |
C |
4: 102,859,649 (GRCm39) |
|
probably benign |
Het |
| Fam234b |
T |
C |
6: 135,195,821 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,180,112 (GRCm39) |
T1410A |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,815,269 (GRCm39) |
N3667K |
probably benign |
Het |
| Gm5114 |
T |
C |
7: 39,057,880 (GRCm39) |
I580V |
probably benign |
Het |
| Hapln1 |
A |
T |
13: 89,755,988 (GRCm39) |
Y264F |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,972,188 (GRCm39) |
V694A |
probably benign |
Het |
| Hps1 |
A |
G |
19: 42,759,550 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
G |
T |
9: 27,245,681 (GRCm39) |
R1216L |
possibly damaging |
Het |
| Il4ra |
G |
T |
7: 125,168,242 (GRCm39) |
C87F |
probably damaging |
Het |
| Kmt5b |
A |
G |
19: 3,836,465 (GRCm39) |
M1V |
probably null |
Het |
| Krit1 |
A |
G |
5: 3,872,178 (GRCm39) |
E401G |
probably damaging |
Het |
| Lamp1 |
T |
C |
8: 13,224,491 (GRCm39) |
V385A |
probably damaging |
Het |
| Ly6g5b |
A |
G |
17: 35,333,567 (GRCm39) |
Y82H |
probably damaging |
Het |
| Mapre2 |
A |
G |
18: 23,937,232 (GRCm39) |
I25V |
probably benign |
Het |
| Mep1a |
A |
G |
17: 43,808,777 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
A |
G |
6: 39,376,209 (GRCm39) |
W466R |
probably benign |
Het |
| Muc2 |
C |
A |
7: 141,302,691 (GRCm39) |
F11L |
probably benign |
Het |
| Nebl |
T |
A |
2: 17,397,794 (GRCm39) |
M501L |
probably benign |
Het |
| Oga |
A |
T |
19: 45,760,327 (GRCm39) |
I277N |
probably damaging |
Het |
| Or11g2 |
A |
G |
14: 50,855,789 (GRCm39) |
I37V |
probably benign |
Het |
| Or4p18 |
A |
G |
2: 88,232,699 (GRCm39) |
V193A |
probably benign |
Het |
| Or5w8 |
A |
G |
2: 87,687,827 (GRCm39) |
I103V |
probably benign |
Het |
| Or8g32 |
A |
G |
9: 39,305,238 (GRCm39) |
I50M |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,776,787 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,418,001 (GRCm39) |
M2886V |
probably damaging |
Het |
| Pop5 |
T |
A |
5: 115,378,230 (GRCm39) |
L58H |
probably damaging |
Het |
| Prkch |
C |
A |
12: 73,768,561 (GRCm39) |
H444N |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,209,134 (GRCm39) |
D1148G |
probably damaging |
Het |
| Rffl |
G |
A |
11: 82,703,458 (GRCm39) |
T120M |
probably damaging |
Het |
| Rmdn2 |
A |
T |
17: 79,977,998 (GRCm39) |
S320C |
probably damaging |
Het |
| Rrbp1 |
C |
T |
2: 143,831,864 (GRCm39) |
R101H |
probably benign |
Het |
| Rtf1 |
G |
A |
2: 119,557,224 (GRCm39) |
R443H |
probably damaging |
Het |
| Serac1 |
G |
T |
17: 6,099,115 (GRCm39) |
L559I |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,061,682 (GRCm39) |
R958G |
probably damaging |
Het |
| Slc15a3 |
T |
A |
19: 10,833,350 (GRCm39) |
W456R |
probably damaging |
Het |
| Slc28a2b |
T |
A |
2: 122,347,550 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
C |
T |
1: 125,503,942 (GRCm39) |
P290L |
probably damaging |
Het |
| Slc35g2 |
C |
T |
9: 100,435,170 (GRCm39) |
R167Q |
probably benign |
Het |
| Spag4 |
T |
C |
2: 155,909,962 (GRCm39) |
V302A |
probably damaging |
Het |
| Spire2 |
A |
C |
8: 124,084,836 (GRCm39) |
|
probably benign |
Het |
| Syt17 |
T |
A |
7: 118,009,164 (GRCm39) |
D352V |
probably damaging |
Het |
| Tars3 |
A |
T |
7: 65,314,717 (GRCm39) |
D425V |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,554,907 (GRCm39) |
S326P |
probably benign |
Het |
| Tnpo2 |
T |
C |
8: 85,767,257 (GRCm39) |
S64P |
probably damaging |
Het |
| Tonsl |
G |
T |
15: 76,517,685 (GRCm39) |
A678D |
probably benign |
Het |
| Trim12c |
A |
G |
7: 103,990,113 (GRCm39) |
|
probably null |
Het |
| Tsc22d1 |
A |
G |
14: 76,656,421 (GRCm39) |
T885A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,572,542 (GRCm39) |
D26117G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,707,355 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
T |
C |
15: 9,306,342 (GRCm39) |
F164L |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,160 (GRCm39) |
N170S |
probably damaging |
Het |
| Vrk2 |
G |
T |
11: 26,484,313 (GRCm39) |
|
probably benign |
Het |
| Wt1 |
C |
A |
2: 104,963,802 (GRCm39) |
D207E |
probably damaging |
Het |
| Zbtb46 |
G |
A |
2: 181,053,608 (GRCm39) |
A368V |
probably benign |
Het |
| Zc3h13 |
A |
T |
14: 75,560,694 (GRCm39) |
D428V |
unknown |
Het |
| Zcchc8 |
C |
G |
5: 123,845,400 (GRCm39) |
G320A |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,886,130 (GRCm39) |
E810G |
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 |
|
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 |
|
|
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'- GAGCAGGTTGCTGAAAGACATCGT -3'
(R):5'- TGCCTCAAAGGCAAACTGACATAGAA -3'
Sequencing Primer
(F):5'- AAGACATCGTGGTCTCATGC -3'
(R):5'- atccacctgcctctgcc -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation