Incidental Mutation 'R4747:Sptbn2'
ID |
357243 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sptbn2
|
Ensembl Gene |
ENSMUSG00000067889 |
Gene Name |
spectrin beta, non-erythrocytic 2 |
Synonyms |
Spnb3 |
MMRRC Submission |
042029-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4747 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4798182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1969
(M1969K)
|
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: M1969K
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000008991 Gene: ENSMUSG00000067889 AA Change: M1969K
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: 94.4%
|
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: 95 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402D24Rik |
A |
G |
1: 63,795,568 (GRCm39) |
|
probably benign |
Het |
Acadvl |
G |
T |
11: 69,903,334 (GRCm39) |
N340K |
probably damaging |
Het |
Adgrl4 |
T |
A |
3: 151,213,077 (GRCm39) |
N372K |
probably benign |
Het |
Adh1 |
G |
A |
3: 137,994,642 (GRCm39) |
G321S |
probably damaging |
Het |
Ankrd26 |
G |
T |
6: 118,504,718 (GRCm39) |
N730K |
probably benign |
Het |
Aoc2 |
A |
T |
11: 101,219,646 (GRCm39) |
|
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,762,355 (GRCm39) |
E537G |
unknown |
Het |
Ccdc7b |
T |
C |
8: 129,904,716 (GRCm39) |
V118A |
probably benign |
Het |
Ccdc88b |
T |
A |
19: 6,833,509 (GRCm39) |
R219W |
probably damaging |
Het |
Ccdc97 |
T |
C |
7: 25,418,348 (GRCm39) |
|
probably null |
Het |
Cfhr4 |
A |
T |
1: 139,625,922 (GRCm39) |
C792S |
probably damaging |
Het |
Ciao3 |
A |
T |
17: 25,999,327 (GRCm39) |
Y247F |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,501,310 (GRCm39) |
N86S |
probably benign |
Het |
Comp |
T |
C |
8: 70,829,352 (GRCm39) |
C310R |
probably damaging |
Het |
Crtc2 |
A |
T |
3: 90,167,518 (GRCm39) |
N281Y |
probably damaging |
Het |
Cryl1 |
T |
C |
14: 57,550,559 (GRCm39) |
K102E |
probably damaging |
Het |
Csf2ra |
G |
A |
19: 61,214,491 (GRCm39) |
R225* |
probably null |
Het |
Dao |
A |
T |
5: 114,150,693 (GRCm39) |
D99V |
probably benign |
Het |
Dgkd |
A |
G |
1: 87,861,889 (GRCm39) |
T815A |
probably damaging |
Het |
Dhrs7 |
T |
C |
12: 72,699,892 (GRCm39) |
T247A |
probably benign |
Het |
Dnah7c |
G |
C |
1: 46,572,328 (GRCm39) |
D934H |
probably damaging |
Het |
Dnajc15 |
T |
C |
14: 78,081,896 (GRCm39) |
Y82C |
probably benign |
Het |
Dnajc4 |
T |
C |
19: 6,966,872 (GRCm39) |
Q152R |
probably damaging |
Het |
Dsc1 |
T |
C |
18: 20,227,615 (GRCm39) |
K541R |
probably damaging |
Het |
Elp4 |
G |
A |
2: 105,624,952 (GRCm39) |
R196C |
probably damaging |
Het |
Epha8 |
GC |
G |
4: 136,666,006 (GRCm39) |
|
probably null |
Het |
Ercc6 |
T |
C |
14: 32,291,864 (GRCm39) |
V1076A |
probably benign |
Het |
Fgd4 |
T |
C |
16: 16,241,793 (GRCm39) |
Y677C |
probably damaging |
Het |
Fndc3b |
C |
A |
3: 27,483,114 (GRCm39) |
C1028F |
probably damaging |
Het |
Folr1 |
T |
A |
7: 101,513,184 (GRCm39) |
D37V |
probably damaging |
Het |
Gabrr3 |
T |
A |
16: 59,268,277 (GRCm39) |
|
probably null |
Het |
Garem1 |
C |
A |
18: 21,263,000 (GRCm39) |
V605L |
probably benign |
Het |
Gbp7 |
A |
T |
3: 142,248,778 (GRCm39) |
D347V |
probably damaging |
Het |
Gdpd4 |
A |
G |
7: 97,610,840 (GRCm39) |
T87A |
possibly damaging |
Het |
Gm12258 |
C |
A |
11: 58,750,422 (GRCm39) |
H532Q |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,756,141 (GRCm39) |
E727G |
possibly damaging |
Het |
Hfm1 |
G |
A |
5: 107,065,389 (GRCm39) |
H97Y |
probably benign |
Het |
Idua |
G |
T |
5: 108,828,902 (GRCm39) |
R335L |
probably damaging |
Het |
Ifi207 |
A |
G |
1: 173,556,633 (GRCm39) |
S702P |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,699,346 (GRCm39) |
V78D |
probably damaging |
Het |
Klra17 |
T |
A |
6: 129,849,232 (GRCm39) |
D114V |
probably damaging |
Het |
Krt76 |
A |
G |
15: 101,794,180 (GRCm39) |
S481P |
probably damaging |
Het |
Lhfpl5 |
A |
G |
17: 28,798,950 (GRCm39) |
D153G |
probably damaging |
Het |
Med21 |
T |
A |
6: 146,550,700 (GRCm39) |
D70E |
possibly damaging |
Het |
Mroh3 |
A |
T |
1: 136,113,237 (GRCm39) |
M739K |
probably benign |
Het |
Myo1a |
A |
G |
10: 127,550,307 (GRCm39) |
E549G |
probably damaging |
Het |
Neu1 |
A |
G |
17: 35,153,359 (GRCm39) |
D294G |
possibly damaging |
Het |
Nmur2 |
A |
T |
11: 55,931,105 (GRCm39) |
I202K |
probably benign |
Het |
Nop2 |
T |
A |
6: 125,114,057 (GRCm39) |
D174E |
probably benign |
Het |
Ogfr |
A |
T |
2: 180,236,216 (GRCm39) |
H267L |
probably damaging |
Het |
Or10p1 |
G |
T |
10: 129,444,053 (GRCm39) |
A99E |
possibly damaging |
Het |
Or5m8 |
A |
G |
2: 85,822,271 (GRCm39) |
T37A |
probably damaging |
Het |
P2ry13 |
T |
A |
3: 59,117,308 (GRCm39) |
I157F |
probably benign |
Het |
Pank4 |
T |
C |
4: 155,063,989 (GRCm39) |
V660A |
probably damaging |
Het |
Pax6 |
C |
A |
2: 105,526,847 (GRCm39) |
P251Q |
probably benign |
Het |
Pcdhb13 |
T |
C |
18: 37,577,868 (GRCm39) |
Y749H |
probably damaging |
Het |
Pcdhga3 |
C |
A |
18: 37,809,799 (GRCm39) |
Q751K |
probably benign |
Het |
Pcnt |
C |
T |
10: 76,272,299 (GRCm39) |
E186K |
possibly damaging |
Het |
Pecam1 |
A |
T |
11: 106,575,072 (GRCm39) |
F613I |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,240,488 (GRCm39) |
*615Q |
probably null |
Het |
Plb1 |
A |
T |
5: 32,507,003 (GRCm39) |
M1193L |
probably benign |
Het |
Pomgnt1 |
T |
C |
4: 116,013,396 (GRCm39) |
L506P |
probably damaging |
Het |
Qrfp |
T |
C |
2: 31,698,852 (GRCm39) |
T27A |
probably damaging |
Het |
Relb |
C |
A |
7: 19,361,847 (GRCm39) |
|
probably null |
Het |
Resf1 |
A |
T |
6: 149,228,392 (GRCm39) |
E479D |
probably damaging |
Het |
Rgl1 |
G |
T |
1: 152,400,450 (GRCm39) |
C685* |
probably null |
Het |
Ric8b |
A |
G |
10: 84,753,628 (GRCm39) |
Y8C |
probably benign |
Het |
Rrp36 |
G |
A |
17: 46,980,893 (GRCm39) |
A161V |
possibly damaging |
Het |
Samd9l |
G |
A |
6: 3,375,504 (GRCm39) |
Q586* |
probably null |
Het |
Sbf1 |
C |
T |
15: 89,186,916 (GRCm39) |
D821N |
probably damaging |
Het |
Septin8 |
G |
C |
11: 53,427,545 (GRCm39) |
A255P |
probably damaging |
Het |
Skp2 |
T |
C |
15: 9,113,927 (GRCm39) |
T329A |
possibly damaging |
Het |
Slc15a2 |
C |
T |
16: 36,592,498 (GRCm39) |
V220M |
probably damaging |
Het |
Slc25a11 |
T |
A |
11: 70,536,782 (GRCm39) |
T63S |
possibly damaging |
Het |
Sowahc |
T |
C |
10: 59,058,983 (GRCm39) |
I373T |
probably benign |
Het |
St14 |
G |
A |
9: 31,015,053 (GRCm39) |
T315M |
possibly damaging |
Het |
Tagap |
G |
A |
17: 8,151,030 (GRCm39) |
R284H |
probably benign |
Het |
Tdpoz3 |
T |
A |
3: 93,733,476 (GRCm39) |
S50R |
possibly damaging |
Het |
Thoc5 |
A |
G |
11: 4,854,187 (GRCm39) |
D182G |
probably damaging |
Het |
Tinag |
A |
G |
9: 76,904,238 (GRCm39) |
V395A |
probably benign |
Het |
Tmc8 |
A |
G |
11: 117,683,550 (GRCm39) |
S702G |
probably benign |
Het |
Tmem202 |
A |
G |
9: 59,426,477 (GRCm39) |
S230P |
possibly damaging |
Het |
Tmem203 |
T |
C |
2: 25,145,764 (GRCm39) |
V28A |
probably benign |
Het |
Traf3ip1 |
A |
T |
1: 91,455,479 (GRCm39) |
S647C |
probably damaging |
Het |
Tram1 |
A |
T |
1: 13,659,870 (GRCm39) |
I26N |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,721,478 (GRCm39) |
D989V |
possibly damaging |
Het |
Ttll6 |
A |
G |
11: 96,036,372 (GRCm39) |
T334A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,750,086 (GRCm39) |
D3654E |
probably damaging |
Het |
Ufd1 |
T |
G |
16: 18,639,832 (GRCm39) |
V112G |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,391,284 (GRCm39) |
Y629N |
possibly damaging |
Het |
Vmn2r1 |
A |
G |
3: 63,989,267 (GRCm39) |
I69V |
probably benign |
Het |
Zfp180 |
A |
T |
7: 23,805,246 (GRCm39) |
Y555F |
probably damaging |
Het |
Zfp438 |
T |
C |
18: 5,214,403 (GRCm39) |
N185S |
probably benign |
Het |
Zfp445 |
C |
T |
9: 122,686,215 (GRCm39) |
V15I |
possibly damaging |
Het |
Zfp462 |
A |
G |
4: 55,013,476 (GRCm39) |
E1814G |
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 |
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'- ATAGTGCCTGGTGTCCTTCAC -3'
(R):5'- TCTATGGACAGCATCGGGAG -3'
Sequencing Primer
(F):5'- GTCCTTCACAAGTTGTATGATGC -3'
(R):5'- GCAATGTCAAAGCACTTGGC -3'
|
Posted On |
2015-11-11 |