Incidental Mutation 'R1863:Sptbn2'
| ID |
204173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
039886-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4782713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 550
(M550V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
|
| AlphaFold |
Q68FG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008991
AA Change: M550V
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: M550V
| 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 |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.0%
- 20x: 90.8%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,527,746 (GRCm39) |
S1015T |
probably damaging |
Het |
| Adamts10 |
T |
A |
17: 33,770,406 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,711,685 (GRCm39) |
T1097I |
probably damaging |
Het |
| Apeh |
T |
C |
9: 107,969,302 (GRCm39) |
Y274C |
possibly damaging |
Het |
| Apobec3 |
A |
G |
15: 79,782,068 (GRCm39) |
D26G |
possibly damaging |
Het |
| Arg2 |
C |
T |
12: 79,196,794 (GRCm39) |
Q172* |
probably null |
Het |
| Asb18 |
C |
T |
1: 89,942,104 (GRCm39) |
V66I |
probably benign |
Het |
| Cacna1i |
G |
A |
15: 80,243,132 (GRCm39) |
G430S |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,449,802 (GRCm38) |
S1136P |
possibly damaging |
Het |
| Cadps |
A |
G |
14: 12,505,796 (GRCm38) |
V758A |
probably benign |
Het |
| Calhm3 |
A |
G |
19: 47,140,539 (GRCm39) |
W185R |
probably damaging |
Het |
| Car5b |
T |
C |
X: 162,774,369 (GRCm39) |
D146G |
probably damaging |
Het |
| Card10 |
G |
A |
15: 78,664,714 (GRCm39) |
R747W |
probably damaging |
Het |
| Cd300lg |
T |
G |
11: 101,932,430 (GRCm39) |
V5G |
probably damaging |
Het |
| Cd46 |
C |
A |
1: 194,765,931 (GRCm39) |
G145C |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,078,988 (GRCm39) |
S433P |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,008,131 (GRCm39) |
E182K |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,817,400 (GRCm39) |
M304L |
unknown |
Het |
| Cplane1 |
A |
G |
15: 8,258,077 (GRCm39) |
I2108V |
probably benign |
Het |
| Cpxm2 |
C |
T |
7: 131,745,392 (GRCm39) |
|
probably null |
Het |
| Dbf4 |
G |
A |
5: 8,447,375 (GRCm39) |
Q612* |
probably null |
Het |
| Dnah11 |
G |
C |
12: 118,027,587 (GRCm39) |
Q1835E |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,767,882 (GRCm39) |
N1140K |
probably benign |
Het |
| Eps8l1 |
C |
A |
7: 4,468,359 (GRCm39) |
|
probably benign |
Het |
| Fbxl21 |
A |
T |
13: 56,674,876 (GRCm39) |
I76L |
probably benign |
Het |
| Gcnt2 |
A |
T |
13: 41,014,577 (GRCm39) |
K249N |
possibly damaging |
Het |
| Gm5819 |
A |
G |
18: 8,694,179 (GRCm39) |
T35A |
probably benign |
Het |
| Gm8180 |
T |
C |
14: 44,021,139 (GRCm39) |
E23G |
probably benign |
Het |
| Gorab |
A |
G |
1: 163,231,131 (GRCm39) |
F8L |
probably damaging |
Het |
| Hlf |
A |
G |
11: 90,231,652 (GRCm39) |
L274S |
probably damaging |
Het |
| Il15ra |
T |
A |
2: 11,728,247 (GRCm39) |
S137T |
possibly damaging |
Het |
| Krt78 |
A |
T |
15: 101,855,004 (GRCm39) |
C936S |
possibly damaging |
Het |
| Lamb2 |
T |
C |
9: 108,358,583 (GRCm39) |
S207P |
probably benign |
Het |
| Lce1a1 |
T |
C |
3: 92,554,118 (GRCm39) |
S119G |
unknown |
Het |
| Lipo3 |
A |
G |
19: 33,762,092 (GRCm39) |
F135S |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,328,708 (GRCm39) |
L1536Q |
probably benign |
Het |
| Lrrc25 |
T |
C |
8: 71,070,596 (GRCm39) |
S126P |
possibly damaging |
Het |
| Mbd3l2 |
T |
C |
9: 18,356,217 (GRCm39) |
S181P |
possibly damaging |
Het |
| Msantd5f6 |
A |
T |
4: 73,320,037 (GRCm39) |
Y247* |
probably null |
Het |
| Mss51 |
C |
T |
14: 20,534,936 (GRCm39) |
R278H |
probably damaging |
Het |
| Myom3 |
G |
A |
4: 135,505,348 (GRCm39) |
M412I |
probably benign |
Het |
| Naa25 |
T |
C |
5: 121,573,611 (GRCm39) |
V780A |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,437,067 (GRCm39) |
F485L |
probably benign |
Het |
| Notch1 |
T |
C |
2: 26,359,962 (GRCm39) |
Y1251C |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,115,609 (GRCm39) |
N826D |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or2t47 |
T |
C |
11: 58,442,849 (GRCm39) |
Y72C |
probably benign |
Het |
| Or4a74 |
A |
T |
2: 89,440,053 (GRCm39) |
L131* |
probably null |
Het |
| Or4c35 |
A |
T |
2: 89,808,754 (GRCm39) |
I211F |
probably benign |
Het |
| Or5p57 |
A |
C |
7: 107,665,932 (GRCm39) |
Y24* |
probably null |
Het |
| Or6c66 |
T |
C |
10: 129,461,217 (GRCm39) |
T238A |
probably damaging |
Het |
| Or8c8 |
T |
G |
9: 38,165,016 (GRCm39) |
M101R |
probably damaging |
Het |
| Or8s16 |
G |
T |
15: 98,211,372 (GRCm39) |
Q20K |
probably benign |
Het |
| Osbpl6 |
G |
A |
2: 76,415,402 (GRCm39) |
R588H |
probably damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,164 (GRCm39) |
D318V |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,545,525 (GRCm39) |
E1162V |
probably damaging |
Het |
| Pde2a |
G |
A |
7: 101,160,361 (GRCm39) |
R845H |
probably damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,621,244 (GRCm39) |
R805S |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,905,844 (GRCm39) |
K1484E |
possibly damaging |
Het |
| Pramel7 |
T |
C |
2: 87,321,675 (GRCm39) |
E120G |
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,336,420 (GRCm39) |
D60V |
probably damaging |
Het |
| Prpf6 |
T |
A |
2: 181,249,967 (GRCm39) |
D42E |
possibly damaging |
Het |
| Rbm5 |
C |
T |
9: 107,627,718 (GRCm39) |
V408I |
possibly damaging |
Het |
| Rsrp1 |
G |
T |
4: 134,651,388 (GRCm39) |
D51Y |
unknown |
Het |
| Sec22a |
A |
G |
16: 35,168,088 (GRCm39) |
M141T |
probably damaging |
Het |
| Spryd3 |
A |
G |
15: 102,026,094 (GRCm39) |
S417P |
probably benign |
Het |
| Sugt1 |
C |
T |
14: 79,846,434 (GRCm39) |
T157I |
probably damaging |
Het |
| Syne4 |
T |
C |
7: 30,016,308 (GRCm39) |
V168A |
probably benign |
Het |
| Tas2r122 |
A |
T |
6: 132,688,065 (GRCm39) |
L276* |
probably null |
Het |
| Tbc1d14 |
G |
A |
5: 36,665,037 (GRCm39) |
S231F |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,729,381 (GRCm39) |
I1526F |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,966,139 (GRCm39) |
C505Y |
probably damaging |
Het |
| Thop1 |
T |
C |
10: 80,909,151 (GRCm39) |
Y61H |
probably damaging |
Het |
| Ticam1 |
G |
A |
17: 56,578,436 (GRCm39) |
H220Y |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,427,755 (GRCm39) |
D500G |
possibly damaging |
Het |
| Tm6sf2 |
T |
A |
8: 70,532,375 (GRCm39) |
L345Q |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,889,848 (GRCm39) |
C114R |
probably damaging |
Het |
| Topors |
G |
T |
4: 40,262,149 (GRCm39) |
C378* |
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,760,881 (GRCm39) |
G1544R |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,314,410 (GRCm39) |
N190K |
probably benign |
Het |
| Wdr70 |
C |
A |
15: 7,950,054 (GRCm39) |
V447F |
probably benign |
Het |
| Xpa |
A |
G |
4: 46,155,730 (GRCm39) |
|
probably benign |
Het |
| Xrcc1 |
T |
C |
7: 24,270,000 (GRCm39) |
S474P |
possibly damaging |
Het |
| Zfp658 |
T |
G |
7: 43,223,323 (GRCm39) |
F533V |
possibly damaging |
Het |
| Zfp799 |
G |
A |
17: 33,038,374 (GRCm39) |
H631Y |
probably 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 |
|
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 |
|
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'- CTGCTGAGCACTACCATGAC -3'
(R):5'- AGACTTCTCTCAGAAAGGCCTTG -3'
Sequencing Primer
(F):5'- TGCTGAGCACTACCATGACATTAAG -3'
(R):5'- TGCAGGCCTTAGAAGCAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation