Incidental Mutation 'R1967:Sptbn2'
| ID |
219127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
039980-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4795327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1595
(R1595L)
|
| 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: R1595L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: R1595L
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
A |
C |
15: 37,439,842 (GRCm39) |
|
probably benign |
Het |
| Abca6 |
T |
C |
11: 110,077,974 (GRCm39) |
I1278V |
probably benign |
Het |
| Adamts15 |
C |
T |
9: 30,832,605 (GRCm39) |
W310* |
probably null |
Het |
| Adamts6 |
T |
A |
13: 104,563,459 (GRCm39) |
C650* |
probably null |
Het |
| Akap3 |
G |
T |
6: 126,842,061 (GRCm39) |
G227C |
probably benign |
Het |
| Alox12e |
A |
T |
11: 70,208,682 (GRCm39) |
S457T |
probably benign |
Het |
| Angpt1 |
C |
A |
15: 42,301,703 (GRCm39) |
C435F |
probably damaging |
Het |
| Anxa9 |
T |
C |
3: 95,207,919 (GRCm39) |
Q207R |
probably benign |
Het |
| Aplnr |
A |
T |
2: 84,967,950 (GRCm39) |
D325V |
probably benign |
Het |
| Art2b |
A |
C |
7: 101,229,414 (GRCm39) |
F162V |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,298,672 (GRCm39) |
S96P |
probably damaging |
Het |
| Bnc1 |
A |
T |
7: 81,623,384 (GRCm39) |
H614Q |
probably benign |
Het |
| C6 |
A |
G |
15: 4,789,302 (GRCm39) |
D249G |
probably damaging |
Het |
| Camta1 |
A |
T |
4: 151,173,430 (GRCm39) |
F977I |
probably damaging |
Het |
| Chil6 |
T |
C |
3: 106,298,470 (GRCm39) |
S188G |
possibly damaging |
Het |
| Cntrob |
A |
T |
11: 69,211,789 (GRCm39) |
L145Q |
probably damaging |
Het |
| Coro7 |
T |
C |
16: 4,452,753 (GRCm39) |
E306G |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,232,904 (GRCm39) |
V1141G |
probably benign |
Het |
| Cpq |
T |
C |
15: 33,497,348 (GRCm39) |
S363P |
possibly damaging |
Het |
| Ctc1 |
A |
G |
11: 68,918,688 (GRCm39) |
|
probably null |
Het |
| Defb43 |
T |
A |
14: 63,255,246 (GRCm39) |
N26K |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,734,845 (GRCm39) |
T41A |
probably benign |
Het |
| Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,974,545 (GRCm39) |
L11P |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,564,288 (GRCm39) |
V26A |
probably benign |
Het |
| Fam13c |
A |
G |
10: 70,387,565 (GRCm39) |
D443G |
probably damaging |
Het |
| Fam227a |
G |
A |
15: 79,521,335 (GRCm39) |
L243F |
possibly damaging |
Het |
| Fat3 |
T |
G |
9: 15,879,591 (GRCm39) |
R3301S |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,046,578 (GRCm39) |
T461A |
probably benign |
Het |
| Fgf8 |
T |
A |
19: 45,730,007 (GRCm39) |
S61C |
probably damaging |
Het |
| Fgfrl1 |
A |
G |
5: 108,852,871 (GRCm39) |
E100G |
probably damaging |
Het |
| Gabra4 |
G |
A |
5: 71,729,412 (GRCm39) |
S456F |
possibly damaging |
Het |
| Gas6 |
T |
C |
8: 13,520,317 (GRCm39) |
E457G |
probably damaging |
Het |
| Gpr33 |
G |
A |
12: 52,070,991 (GRCm39) |
S16L |
probably benign |
Het |
| Greb1l |
A |
C |
18: 10,501,049 (GRCm39) |
N393T |
possibly damaging |
Het |
| Gtpbp4 |
T |
C |
13: 9,027,340 (GRCm39) |
K492E |
probably benign |
Het |
| Hsf2bp |
A |
T |
17: 32,206,378 (GRCm39) |
L251* |
probably null |
Het |
| Hyal5 |
A |
T |
6: 24,876,193 (GRCm39) |
Q22L |
possibly damaging |
Het |
| Itih1 |
A |
T |
14: 30,663,941 (GRCm39) |
V114E |
possibly damaging |
Het |
| Jak3 |
T |
A |
8: 72,134,179 (GRCm39) |
I427N |
probably damaging |
Het |
| Jcad |
T |
C |
18: 4,675,162 (GRCm39) |
S975P |
probably benign |
Het |
| Kcng4 |
A |
G |
8: 120,359,662 (GRCm39) |
V238A |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,529,417 (GRCm39) |
D315G |
probably damaging |
Het |
| Klrh1 |
A |
T |
6: 129,752,798 (GRCm39) |
N2K |
possibly damaging |
Het |
| Krt5 |
T |
C |
15: 101,620,094 (GRCm39) |
N208D |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,137,651 (GRCm39) |
H551Q |
probably benign |
Het |
| Lrp8 |
G |
T |
4: 107,717,168 (GRCm39) |
G732V |
probably damaging |
Het |
| Lrrc38 |
A |
G |
4: 143,096,553 (GRCm39) |
D288G |
unknown |
Het |
| Lrrc4b |
GAGAAG |
GAG |
7: 44,111,654 (GRCm39) |
|
probably benign |
Het |
| Mas1 |
A |
G |
17: 13,060,923 (GRCm39) |
Y167H |
probably benign |
Het |
| Mcm8 |
A |
C |
2: 132,684,662 (GRCm39) |
I759L |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,899,387 (GRCm39) |
D2148N |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,614,612 (GRCm39) |
I255K |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,104,273 (GRCm39) |
N980S |
probably benign |
Het |
| Nap1l4 |
T |
A |
7: 143,088,024 (GRCm39) |
Q178L |
probably damaging |
Het |
| Ncapg |
T |
A |
5: 45,857,252 (GRCm39) |
L988Q |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,706,123 (GRCm39) |
H245L |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,036 (GRCm39) |
E164G |
possibly damaging |
Het |
| Nf1 |
G |
A |
11: 79,303,571 (GRCm39) |
R416H |
probably damaging |
Het |
| Obscn |
G |
A |
11: 59,026,535 (GRCm39) |
Q223* |
probably null |
Het |
| Or10q1 |
T |
A |
19: 13,727,417 (GRCm39) |
*316R |
probably null |
Het |
| Or2o1 |
T |
C |
11: 49,051,675 (GRCm39) |
I278T |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,612,715 (GRCm39) |
N558K |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,542,422 (GRCm39) |
M1253K |
possibly damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,797,832 (GRCm39) |
V22A |
probably damaging |
Het |
| Plppr5 |
G |
A |
3: 117,419,555 (GRCm39) |
|
probably null |
Het |
| Pnpla2 |
T |
C |
7: 141,039,345 (GRCm39) |
S353P |
probably benign |
Het |
| Pom121 |
A |
T |
5: 135,420,608 (GRCm39) |
L271Q |
unknown |
Het |
| Prepl |
A |
T |
17: 85,395,979 (GRCm39) |
M1K |
probably null |
Het |
| Prr14l |
A |
G |
5: 33,001,813 (GRCm39) |
|
probably benign |
Het |
| Psmc3 |
C |
A |
2: 90,888,189 (GRCm39) |
P325T |
probably benign |
Het |
| Psme2b |
A |
G |
11: 48,836,896 (GRCm39) |
V17A |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,393,863 (GRCm39) |
I23V |
probably benign |
Het |
| Rab31 |
A |
G |
17: 66,079,499 (GRCm39) |
|
probably null |
Het |
| Ranbp6 |
T |
A |
19: 29,789,900 (GRCm39) |
K151* |
probably null |
Het |
| Rbm12b1 |
A |
T |
4: 12,146,304 (GRCm39) |
I759L |
probably benign |
Het |
| Rgs5 |
T |
C |
1: 169,504,425 (GRCm39) |
I25T |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,371,721 (GRCm39) |
V4842A |
probably damaging |
Het |
| Rtl9 |
A |
T |
X: 141,886,037 (GRCm39) |
I1150F |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,158,769 (GRCm39) |
W384R |
probably damaging |
Het |
| Sema5a |
C |
T |
15: 32,681,765 (GRCm39) |
P948L |
probably damaging |
Het |
| Slc26a3 |
G |
A |
12: 31,515,777 (GRCm39) |
R559Q |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,552,243 (GRCm39) |
V267A |
probably benign |
Het |
| Spata22 |
A |
G |
11: 73,221,953 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,454 (GRCm39) |
I909L |
probably benign |
Het |
| Tfdp1 |
T |
C |
8: 13,423,039 (GRCm39) |
S315P |
possibly damaging |
Het |
| Tle1 |
A |
T |
4: 72,038,463 (GRCm39) |
V688E |
probably damaging |
Het |
| Tmem129 |
A |
T |
5: 33,812,665 (GRCm39) |
|
probably null |
Het |
| Tmprss11a |
G |
A |
5: 86,579,702 (GRCm39) |
T91I |
probably benign |
Het |
| Tnfsf14 |
A |
G |
17: 57,497,807 (GRCm39) |
Y142H |
probably damaging |
Het |
| Tph1 |
T |
C |
7: 46,311,538 (GRCm39) |
D68G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,592,631 (GRCm39) |
S12507T |
probably damaging |
Het |
| Tubgcp2 |
T |
A |
7: 139,586,066 (GRCm39) |
M408L |
probably benign |
Het |
| Usp34 |
A |
T |
11: 23,314,503 (GRCm39) |
H815L |
probably benign |
Het |
| Usp6nl |
G |
A |
2: 6,446,330 (GRCm39) |
R746H |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,652,841 (GRCm39) |
S358P |
probably benign |
Het |
| Vmn2r118 |
G |
A |
17: 55,899,882 (GRCm39) |
T674I |
probably damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,950,249 (GRCm39) |
H199Q |
probably benign |
Het |
| Vmn2r9 |
A |
G |
5: 108,995,388 (GRCm39) |
V420A |
probably benign |
Het |
| Vmn2r99 |
A |
T |
17: 19,599,077 (GRCm39) |
T254S |
probably benign |
Het |
| Zbed5 |
A |
G |
5: 129,930,510 (GRCm39) |
H132R |
possibly damaging |
Het |
| Zfp568 |
A |
G |
7: 29,688,513 (GRCm39) |
E25G |
probably damaging |
Het |
| Zfp951 |
T |
A |
5: 104,964,866 (GRCm39) |
I67L |
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 |
|
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 |
|
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'- TCTGTTGCTCTGGACAGACC -3'
(R):5'- GGGCTTGTTCCAATACCTGATG -3'
Sequencing Primer
(F):5'- TCTGGACAGACCCTGCAGAAG -3'
(R):5'- TCACTTCTGCCTGGGCG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation