Incidental Mutation 'R4672:Sptbn2'
| ID |
348584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
041927-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4672 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4782524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 487
(V487L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
|
| AlphaFold |
Q68FG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008991
AA Change: V487L
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: V487L
| 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 |
0.0742 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (113/115) |
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,962,702 (GRCm39) |
L483F |
possibly damaging |
Het |
| Abca8b |
A |
G |
11: 109,827,274 (GRCm39) |
F1507L |
possibly damaging |
Het |
| Adamdec1 |
C |
A |
14: 68,815,353 (GRCm39) |
E104* |
probably null |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Alppl2 |
T |
C |
1: 87,017,187 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
A |
G |
2: 84,967,524 (GRCm39) |
Y183C |
probably damaging |
Het |
| Atm |
G |
A |
9: 53,433,501 (GRCm39) |
R250W |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,757,132 (GRCm39) |
L275P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,944,139 (GRCm39) |
*330W |
probably null |
Het |
| Ccdc178 |
G |
A |
18: 22,283,501 (GRCm39) |
Q10* |
probably null |
Het |
| Ccr9 |
T |
C |
9: 123,608,752 (GRCm39) |
Y145H |
probably damaging |
Het |
| Cd209f |
C |
T |
8: 4,153,685 (GRCm39) |
G188D |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,136,365 (GRCm39) |
S23T |
possibly damaging |
Het |
| Cpped1 |
C |
A |
16: 11,623,238 (GRCm39) |
E294* |
probably null |
Het |
| Crisp1 |
T |
A |
17: 40,605,404 (GRCm39) |
|
probably null |
Het |
| Disp1 |
T |
C |
1: 182,880,215 (GRCm39) |
|
probably null |
Het |
| Dlg2 |
A |
T |
7: 91,935,743 (GRCm39) |
M624L |
probably damaging |
Het |
| Elf2 |
A |
G |
3: 51,163,855 (GRCm39) |
V558A |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,743,109 (GRCm39) |
D209G |
probably damaging |
Het |
| Fam187b |
G |
A |
7: 30,676,968 (GRCm39) |
R159H |
probably damaging |
Het |
| Fh1 |
G |
A |
1: 175,431,617 (GRCm39) |
A423V |
probably benign |
Het |
| Frg1 |
C |
T |
8: 41,853,846 (GRCm39) |
D164N |
probably benign |
Het |
| Fsbp |
T |
G |
4: 11,579,841 (GRCm39) |
N36K |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,744,579 (GRCm39) |
T1592A |
probably damaging |
Het |
| Gimap3 |
A |
G |
6: 48,742,687 (GRCm39) |
I81T |
probably damaging |
Het |
| Gjb6 |
C |
T |
14: 57,362,235 (GRCm39) |
V9I |
probably benign |
Het |
| Gkap1 |
T |
C |
13: 58,411,770 (GRCm39) |
S68G |
possibly damaging |
Het |
| Gpatch8 |
A |
T |
11: 102,369,784 (GRCm39) |
S1251R |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,664,981 (GRCm39) |
F92L |
possibly damaging |
Het |
| H2-Q1 |
C |
A |
17: 35,539,906 (GRCm39) |
D58E |
probably damaging |
Het |
| Hs1bp3 |
G |
T |
12: 8,391,983 (GRCm39) |
G362* |
probably null |
Het |
| Igfn1 |
T |
A |
1: 135,893,107 (GRCm39) |
H2114L |
possibly damaging |
Het |
| Igkv12-98 |
A |
G |
6: 68,547,940 (GRCm39) |
Q22R |
probably benign |
Het |
| Ing3 |
A |
G |
6: 21,965,729 (GRCm39) |
|
probably null |
Het |
| Insr |
C |
T |
8: 3,217,501 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,941,630 (GRCm39) |
S374P |
probably benign |
Het |
| Kif14 |
A |
C |
1: 136,449,016 (GRCm39) |
Q1472P |
probably benign |
Het |
| Kif14 |
G |
T |
1: 136,449,017 (GRCm39) |
Q1472H |
probably benign |
Het |
| Knstrn |
A |
G |
2: 118,664,512 (GRCm39) |
E202G |
probably damaging |
Het |
| Knstrn |
G |
T |
2: 118,664,513 (GRCm39) |
E202D |
possibly damaging |
Het |
| Krt12 |
A |
G |
11: 99,309,509 (GRCm39) |
|
probably benign |
Het |
| Lgi3 |
A |
T |
14: 70,771,897 (GRCm39) |
I195F |
possibly damaging |
Het |
| Lima1 |
T |
C |
15: 99,741,590 (GRCm39) |
N29D |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,802,806 (GRCm39) |
I88V |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,929,120 (GRCm39) |
S86P |
probably benign |
Het |
| Lsamp |
A |
G |
16: 41,775,697 (GRCm39) |
R166G |
probably damaging |
Het |
| Mamdc2 |
T |
A |
19: 23,328,148 (GRCm39) |
N407Y |
probably damaging |
Het |
| Mast3 |
CATA |
CA |
8: 71,237,441 (GRCm39) |
|
probably null |
Het |
| Megf6 |
T |
A |
4: 154,333,909 (GRCm39) |
N212K |
probably damaging |
Het |
| Met |
A |
C |
6: 17,571,803 (GRCm39) |
D1374A |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,233,923 (GRCm39) |
T902A |
probably benign |
Het |
| Mroh3 |
T |
A |
1: 136,118,713 (GRCm39) |
T535S |
probably benign |
Het |
| Muc1 |
G |
T |
3: 89,139,384 (GRCm39) |
V595L |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,079,303 (GRCm39) |
L957Q |
probably damaging |
Het |
| Myorg |
T |
A |
4: 41,499,061 (GRCm39) |
M190L |
probably benign |
Het |
| Ncl |
A |
T |
1: 86,284,324 (GRCm39) |
D257E |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,332,468 (GRCm39) |
D2263V |
probably damaging |
Het |
| Optc |
C |
A |
1: 133,825,555 (GRCm39) |
V324L |
possibly damaging |
Het |
| Or4k15 |
A |
G |
14: 50,364,714 (GRCm39) |
N227D |
probably benign |
Het |
| Or4k42 |
A |
T |
2: 111,319,902 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or7g35 |
A |
G |
9: 19,496,726 (GRCm39) |
K298E |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,921,806 (GRCm39) |
I604T |
possibly damaging |
Het |
| Otog |
C |
A |
7: 45,939,210 (GRCm39) |
A2080D |
probably damaging |
Het |
| Parp6 |
G |
C |
9: 59,547,393 (GRCm39) |
R460P |
probably damaging |
Het |
| Phactr4 |
G |
T |
4: 132,098,017 (GRCm39) |
P417Q |
probably damaging |
Het |
| Pigt |
T |
C |
2: 164,339,498 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,470,655 (GRCm39) |
I99V |
probably damaging |
Het |
| Plxna3 |
T |
G |
X: 73,382,554 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
G |
A |
9: 50,779,019 (GRCm39) |
M362I |
probably damaging |
Het |
| Pramel34 |
T |
A |
5: 93,784,182 (GRCm39) |
R230S |
probably damaging |
Het |
| Rad51 |
A |
G |
2: 118,954,327 (GRCm39) |
I136V |
probably benign |
Het |
| Rad54b |
T |
A |
4: 11,609,449 (GRCm39) |
H633Q |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,071,231 (GRCm39) |
F41S |
probably benign |
Het |
| Reep3 |
T |
A |
10: 66,857,629 (GRCm39) |
H154L |
probably benign |
Het |
| Rp1l1 |
T |
G |
14: 64,268,719 (GRCm39) |
V1435G |
probably damaging |
Het |
| Rps6ka5 |
C |
A |
12: 100,620,546 (GRCm39) |
K125N |
possibly damaging |
Het |
| Rsad1 |
A |
T |
11: 94,434,444 (GRCm39) |
M330K |
probably damaging |
Het |
| Scand1 |
A |
G |
2: 156,153,850 (GRCm39) |
|
probably null |
Het |
| Setd6 |
A |
G |
8: 96,444,640 (GRCm39) |
H111R |
probably null |
Het |
| Slc27a3 |
T |
C |
3: 90,294,953 (GRCm39) |
N368S |
possibly damaging |
Het |
| Slc38a2 |
T |
C |
15: 96,596,518 (GRCm39) |
T32A |
probably benign |
Het |
| Smg7 |
A |
G |
1: 152,721,164 (GRCm39) |
S683P |
probably damaging |
Het |
| Smyd2 |
A |
T |
1: 189,642,101 (GRCm39) |
L62M |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 143,779,075 (GRCm39) |
Y687C |
probably damaging |
Het |
| Spaca6 |
T |
A |
17: 18,057,005 (GRCm39) |
C53* |
probably null |
Het |
| Spata31e4 |
T |
C |
13: 50,857,208 (GRCm39) |
Y949H |
probably benign |
Het |
| Spire2 |
T |
C |
8: 124,084,850 (GRCm39) |
V230A |
probably benign |
Het |
| Stk3 |
T |
A |
15: 35,099,603 (GRCm39) |
I110L |
probably benign |
Het |
| Stox2 |
T |
A |
8: 47,645,141 (GRCm39) |
Y773F |
probably damaging |
Het |
| Tbrg1 |
C |
A |
9: 37,562,632 (GRCm39) |
A259S |
probably damaging |
Het |
| Tnfsf18 |
C |
A |
1: 161,331,307 (GRCm39) |
D152E |
probably benign |
Het |
| Tpr |
G |
A |
1: 150,299,318 (GRCm39) |
A1173T |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,722,290 (GRCm39) |
L271P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,657,419 (GRCm39) |
|
probably benign |
Het |
| U2surp |
A |
G |
9: 95,375,198 (GRCm39) |
S192P |
possibly damaging |
Het |
| Ubr4 |
C |
T |
4: 139,138,027 (GRCm39) |
S1128L |
probably damaging |
Het |
| Ucma |
G |
A |
2: 4,981,465 (GRCm39) |
|
probably null |
Het |
| Urb1 |
A |
T |
16: 90,569,522 (GRCm39) |
D1401E |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,631,597 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,056 (GRCm39) |
Y270H |
probably damaging |
Het |
| Vmn1r90 |
T |
A |
7: 14,295,493 (GRCm39) |
T202S |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,655,612 (GRCm39) |
Y616C |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,672,413 (GRCm39) |
W717R |
probably damaging |
Het |
| Zcchc4 |
C |
A |
5: 52,953,947 (GRCm39) |
T209K |
probably benign |
Het |
| Zfp955b |
T |
A |
17: 33,524,233 (GRCm39) |
|
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 |
|
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'- CACTGCCTAAAGTTGGCACC -3'
(R):5'- CCATCCAGTCCATGAGGTAGAG -3'
Sequencing Primer
(F):5'- CGCCCTGGGGAATAGACAG -3'
(R):5'- GAGCAGGTCCTGAAACACTTTCTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation