Incidental Mutation 'R7219:Sptbn2'
| ID |
561706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
045291-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7219 (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 4774201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 84
(D84G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
|
| AlphaFold |
Q68FG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008991
AA Change: D84G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: D84G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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 |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,508 (GRCm39) |
S300P |
unknown |
Het |
| Abhd17a |
T |
A |
10: 80,420,008 (GRCm39) |
K226* |
probably null |
Het |
| Alkbh7 |
T |
A |
17: 57,305,508 (GRCm39) |
H108Q |
probably damaging |
Het |
| Ankrd44 |
A |
C |
1: 54,806,069 (GRCm39) |
H112Q |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,333,935 (GRCm39) |
E790G |
probably damaging |
Het |
| Cd47 |
C |
A |
16: 49,728,440 (GRCm39) |
N330K |
possibly damaging |
Het |
| Cd55 |
A |
G |
1: 130,390,343 (GRCm39) |
S22P |
possibly damaging |
Het |
| Cdc25a |
A |
G |
9: 109,718,154 (GRCm39) |
I373V |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,779,912 (GRCm39) |
I514V |
probably benign |
Het |
| Cfap73 |
A |
T |
5: 120,768,200 (GRCm39) |
M186K |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,728,394 (GRCm39) |
D1270G |
unknown |
Het |
| Ciita |
A |
G |
16: 10,330,121 (GRCm39) |
T802A |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,793,296 (GRCm39) |
E430G |
probably benign |
Het |
| Dlx1 |
C |
A |
2: 71,360,513 (GRCm39) |
S59* |
probably null |
Het |
| Dnaaf3 |
T |
C |
7: 4,531,076 (GRCm39) |
N119S |
probably damaging |
Het |
| Dnah11 |
T |
G |
12: 118,004,830 (GRCm39) |
I2164L |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 118,090,624 (GRCm39) |
K1079R |
probably benign |
Het |
| Dnah12 |
C |
T |
14: 26,576,837 (GRCm39) |
T3029I |
probably damaging |
Het |
| Dppa3 |
A |
T |
6: 122,606,918 (GRCm39) |
Y136F |
probably damaging |
Het |
| Enox1 |
T |
A |
14: 77,958,284 (GRCm39) |
M611K |
probably benign |
Het |
| Fam149a |
A |
T |
8: 45,803,600 (GRCm39) |
I378N |
possibly damaging |
Het |
| Farp2 |
T |
C |
1: 93,488,040 (GRCm39) |
F89S |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,186,099 (GRCm39) |
V1750M |
probably benign |
Het |
| Frs3 |
A |
G |
17: 48,013,620 (GRCm39) |
T181A |
probably damaging |
Het |
| Heatr4 |
T |
A |
12: 84,004,644 (GRCm39) |
I726F |
possibly damaging |
Het |
| Ighg1 |
T |
G |
12: 113,290,216 (GRCm39) |
E375A |
|
Het |
| Ikzf4 |
G |
T |
10: 128,470,252 (GRCm39) |
Q476K |
possibly damaging |
Het |
| Kcnh1 |
G |
T |
1: 192,187,945 (GRCm39) |
C829F |
probably benign |
Het |
| Krtap19-4 |
T |
C |
16: 88,681,797 (GRCm39) |
Y53C |
unknown |
Het |
| Loricrin |
C |
A |
3: 91,988,705 (GRCm39) |
G194C |
unknown |
Het |
| Lrp1 |
A |
C |
10: 127,393,097 (GRCm39) |
D2720E |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,322,368 (GRCm39) |
Y1068C |
probably damaging |
Het |
| Mbnl1 |
A |
G |
3: 60,511,244 (GRCm39) |
N67D |
probably benign |
Het |
| Mrpl21 |
A |
G |
19: 3,336,998 (GRCm39) |
E123G |
probably benign |
Het |
| Mst1 |
A |
T |
9: 107,958,485 (GRCm39) |
D65V |
probably damaging |
Het |
| Myo15b |
T |
A |
11: 115,767,921 (GRCm39) |
|
probably null |
Het |
| Myo5a |
A |
G |
9: 75,028,052 (GRCm39) |
Y79C |
probably damaging |
Het |
| Oas1c |
A |
T |
5: 120,940,957 (GRCm39) |
W279R |
probably damaging |
Het |
| Or4f4-ps1 |
A |
T |
2: 111,330,532 (GRCm39) |
M312L |
probably benign |
Het |
| Or4k77 |
A |
T |
2: 111,199,882 (GRCm39) |
I302L |
probably benign |
Het |
| Or51f5 |
A |
G |
7: 102,430,913 (GRCm39) |
I77V |
probably benign |
Het |
| Pcdh9 |
C |
T |
14: 93,253,216 (GRCm39) |
G1149D |
possibly damaging |
Het |
| Pcid2 |
G |
A |
8: 13,129,907 (GRCm39) |
T283I |
probably benign |
Het |
| Pdhx |
A |
G |
2: 102,858,760 (GRCm39) |
V348A |
probably benign |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Psmb3 |
T |
A |
11: 97,602,023 (GRCm39) |
M131K |
probably null |
Het |
| Raph1 |
A |
G |
1: 60,542,032 (GRCm39) |
Y309H |
unknown |
Het |
| Rasgrf1 |
A |
G |
9: 89,866,341 (GRCm39) |
N593S |
probably damaging |
Het |
| Rbm38 |
A |
C |
2: 172,863,990 (GRCm39) |
E53A |
possibly damaging |
Het |
| Rufy3 |
A |
G |
5: 88,797,715 (GRCm39) |
T631A |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,543,722 (GRCm39) |
D272E |
probably benign |
Het |
| Scamp1 |
T |
A |
13: 94,361,415 (GRCm39) |
Y207F |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,866,984 (GRCm39) |
S263R |
probably damaging |
Het |
| Setbp1 |
T |
G |
18: 78,798,960 (GRCm39) |
T1407P |
probably damaging |
Het |
| Skor2 |
T |
C |
18: 76,948,096 (GRCm39) |
L606P |
possibly damaging |
Het |
| Slc35f6 |
A |
G |
5: 30,814,796 (GRCm39) |
N241S |
probably benign |
Het |
| Slc36a2 |
T |
G |
11: 55,059,744 (GRCm39) |
D247A |
probably benign |
Het |
| Smim10l1 |
T |
A |
6: 133,084,895 (GRCm39) |
F87L |
unknown |
Het |
| Son |
T |
C |
16: 91,461,889 (GRCm39) |
S2265P |
unknown |
Het |
| Spta1 |
A |
G |
1: 174,050,203 (GRCm39) |
N1748D |
probably damaging |
Het |
| Tasor2 |
T |
A |
13: 3,640,521 (GRCm39) |
L205F |
probably damaging |
Het |
| Tbc1d24 |
G |
A |
17: 24,404,266 (GRCm39) |
R293C |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,036,268 (GRCm39) |
T65A |
probably benign |
Het |
| Thyn1 |
A |
G |
9: 26,916,506 (GRCm39) |
Y97C |
probably damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,700 (GRCm39) |
L250P |
probably damaging |
Het |
| Tnfrsf9 |
A |
T |
4: 151,019,991 (GRCm39) |
K217N |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,898,039 (GRCm39) |
T896A |
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,854,333 (GRCm39) |
I285N |
possibly damaging |
Het |
| Try5 |
T |
A |
6: 41,288,637 (GRCm39) |
D194V |
probably damaging |
Het |
| U2surp |
G |
A |
9: 95,372,215 (GRCm39) |
R316* |
probably null |
Het |
| Ubr2 |
G |
T |
17: 47,246,360 (GRCm39) |
S1618* |
probably null |
Het |
| Ugp2 |
T |
C |
11: 21,273,271 (GRCm39) |
I449M |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,236 (GRCm39) |
|
probably null |
Het |
| Vmn2r31 |
C |
T |
7: 7,390,105 (GRCm39) |
V538I |
probably benign |
Het |
| Vmn2r31 |
A |
T |
7: 7,397,397 (GRCm39) |
M287K |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,311,919 (GRCm39) |
V748A |
unknown |
Het |
| Zfp800 |
A |
C |
6: 28,243,662 (GRCm39) |
H434Q |
probably benign |
Het |
| Zfp869 |
A |
G |
8: 70,159,356 (GRCm39) |
C406R |
probably damaging |
Het |
| Zhx1 |
A |
G |
15: 57,917,733 (GRCm39) |
V171A |
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 |
|
|
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'- TCTCTCAGGCATCCCAAGTC -3'
(R):5'- TGTAATCCACGCAGCAAAGC -3'
Sequencing Primer
(F):5'- GGCATCCCAAGTCCCCATC -3'
(R):5'- TTGGAATGAGACCATCCTCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation