Incidental Mutation 'R6307:Sptbn2'
ID |
509512 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sptbn2
|
Ensembl Gene |
ENSMUSG00000067889 |
Gene Name |
spectrin beta, non-erythrocytic 2 |
Synonyms |
Spnb3 |
MMRRC Submission |
044412-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6307 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 4774674 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 109
(G109D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
|
AlphaFold |
Q68FG2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000008991
AA Change: G109D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000008991 Gene: ENSMUSG00000067889 AA Change: G109D
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: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,843,221 (GRCm39) |
L1232P |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,188,351 (GRCm39) |
I1922F |
possibly damaging |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Arpc5 |
T |
C |
1: 152,647,206 (GRCm39) |
V103A |
possibly damaging |
Het |
Atp9a |
C |
A |
2: 168,510,090 (GRCm39) |
V430F |
probably benign |
Het |
Bod1 |
A |
G |
11: 31,616,932 (GRCm39) |
S110P |
probably damaging |
Het |
Cacna1c |
C |
A |
6: 118,590,914 (GRCm39) |
V1453F |
probably damaging |
Het |
Capn8 |
T |
A |
1: 182,435,264 (GRCm39) |
M414K |
probably damaging |
Het |
Cbl |
A |
T |
9: 44,069,809 (GRCm39) |
|
probably null |
Het |
Ccdc42 |
A |
T |
11: 68,479,106 (GRCm39) |
Q98L |
probably damaging |
Het |
Ccn3 |
T |
C |
15: 54,611,421 (GRCm39) |
|
probably null |
Het |
Cd200 |
C |
A |
16: 45,217,545 (GRCm39) |
V49L |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,812,531 (GRCm39) |
S2060P |
probably benign |
Het |
Ces1g |
A |
T |
8: 94,057,820 (GRCm39) |
H160Q |
possibly damaging |
Het |
Chrnb2 |
G |
T |
3: 89,668,831 (GRCm39) |
H161Q |
probably damaging |
Het |
Ctns |
G |
A |
11: 73,082,559 (GRCm39) |
T57I |
probably benign |
Het |
Cyp3a25 |
A |
T |
5: 145,931,766 (GRCm39) |
M114K |
possibly damaging |
Het |
D630003M21Rik |
A |
G |
2: 158,057,871 (GRCm39) |
F536L |
probably benign |
Het |
Dcc |
C |
T |
18: 71,943,826 (GRCm39) |
R275Q |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,289,990 (GRCm39) |
H2508Q |
possibly damaging |
Het |
Elf5 |
C |
A |
2: 103,269,757 (GRCm39) |
Q113K |
probably damaging |
Het |
Fam83a |
T |
G |
15: 57,849,507 (GRCm39) |
V17G |
possibly damaging |
Het |
Farsa |
T |
C |
8: 85,587,674 (GRCm39) |
|
probably null |
Het |
Fat2 |
G |
C |
11: 55,172,106 (GRCm39) |
T2869S |
possibly damaging |
Het |
Fgg |
A |
T |
3: 82,920,283 (GRCm39) |
Q354L |
probably damaging |
Het |
Folh1 |
T |
C |
7: 86,372,517 (GRCm39) |
D679G |
probably damaging |
Het |
Gbp4 |
T |
A |
5: 105,270,975 (GRCm39) |
R83* |
probably null |
Het |
Gm17482 |
T |
A |
6: 115,204,311 (GRCm39) |
|
probably benign |
Het |
Hmgxb4 |
T |
A |
8: 75,749,927 (GRCm39) |
V481D |
possibly damaging |
Het |
Ifi207 |
A |
C |
1: 173,552,619 (GRCm39) |
Y926D |
probably damaging |
Het |
Ikzf5 |
T |
A |
7: 130,993,377 (GRCm39) |
N264Y |
probably damaging |
Het |
Kat6a |
T |
A |
8: 23,430,384 (GRCm39) |
M1913K |
unknown |
Het |
Krt33b |
A |
T |
11: 99,915,694 (GRCm39) |
C351S |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,427,944 (GRCm39) |
D543G |
probably damaging |
Het |
Lrrfip2 |
C |
T |
9: 111,053,021 (GRCm39) |
R339W |
probably damaging |
Het |
Mapk3 |
T |
G |
7: 126,363,454 (GRCm39) |
M276R |
probably benign |
Het |
Mgst1 |
T |
C |
6: 138,127,827 (GRCm39) |
V137A |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,558,884 (GRCm39) |
T2470A |
unknown |
Het |
Muc4 |
C |
T |
16: 32,575,237 (GRCm39) |
S1274F |
possibly damaging |
Het |
Myo5c |
A |
C |
9: 75,180,198 (GRCm39) |
K713T |
possibly damaging |
Het |
Myzap |
T |
C |
9: 71,466,146 (GRCm39) |
D170G |
possibly damaging |
Het |
Naa50 |
T |
C |
16: 43,979,831 (GRCm39) |
V113A |
probably damaging |
Het |
Neu3 |
T |
C |
7: 99,462,929 (GRCm39) |
T265A |
probably benign |
Het |
Nin |
T |
C |
12: 70,061,631 (GRCm39) |
T2078A |
possibly damaging |
Het |
Nomo1 |
G |
A |
7: 45,683,260 (GRCm39) |
|
probably benign |
Het |
Nprl3 |
A |
G |
11: 32,189,828 (GRCm39) |
L273P |
probably damaging |
Het |
Oaf |
T |
A |
9: 43,136,216 (GRCm39) |
H120L |
possibly damaging |
Het |
Or10s1 |
T |
C |
9: 39,985,824 (GRCm39) |
S78P |
probably damaging |
Het |
Or13p4 |
C |
T |
4: 118,547,145 (GRCm39) |
R168H |
probably benign |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Or8k21 |
T |
C |
2: 86,145,468 (GRCm39) |
H54R |
probably benign |
Het |
Pcdhga3 |
T |
A |
18: 37,809,674 (GRCm39) |
|
probably benign |
Het |
Polq |
G |
A |
16: 36,837,718 (GRCm39) |
|
probably null |
Het |
Prdm8 |
C |
T |
5: 98,333,162 (GRCm39) |
P243L |
possibly damaging |
Het |
Prim2 |
T |
C |
1: 33,701,373 (GRCm39) |
D138G |
probably benign |
Het |
Prl2c5 |
A |
G |
13: 13,365,175 (GRCm39) |
E107G |
probably benign |
Het |
Prr14l |
T |
A |
5: 32,984,869 (GRCm39) |
H1542L |
probably damaging |
Het |
Rab26 |
T |
C |
17: 24,749,072 (GRCm39) |
E203G |
probably damaging |
Het |
Rtkn2 |
A |
T |
10: 67,871,662 (GRCm39) |
H350L |
possibly damaging |
Het |
Scara3 |
T |
C |
14: 66,175,710 (GRCm39) |
D19G |
probably benign |
Het |
Scn3a |
A |
G |
2: 65,302,685 (GRCm39) |
S1254P |
probably damaging |
Het |
Sdcbp |
A |
G |
4: 6,385,059 (GRCm39) |
M93V |
probably benign |
Het |
Sema6a |
C |
A |
18: 47,382,231 (GRCm39) |
R772L |
probably damaging |
Het |
Slc5a7 |
T |
C |
17: 54,584,006 (GRCm39) |
K428R |
probably benign |
Het |
Tmppe |
T |
C |
9: 114,233,812 (GRCm39) |
L37P |
probably benign |
Het |
Tuba1a |
T |
C |
15: 98,849,410 (GRCm39) |
T56A |
probably benign |
Het |
Tut4 |
T |
A |
4: 108,412,817 (GRCm39) |
I1506N |
probably damaging |
Het |
Vmn2r111 |
A |
G |
17: 22,792,070 (GRCm39) |
I62T |
probably benign |
Het |
Vmn2r73 |
A |
G |
7: 85,506,828 (GRCm39) |
I828T |
probably damaging |
Het |
Vmn2r79 |
T |
A |
7: 86,686,976 (GRCm39) |
W786R |
probably damaging |
Het |
Zp1 |
G |
A |
19: 10,894,084 (GRCm39) |
T405M |
probably null |
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 |
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'- GGGAATCTTAATCTGCCCAAGC -3'
(R):5'- ACAGTGTGGAGGTATGACTCG -3'
Sequencing Primer
(F):5'- GAATCTTAATCTGCCCAAGCCTCATC -3'
(R):5'- GGTTCATGTACAGTTTACGCCTCAG -3'
|
Posted On |
2018-04-02 |