Incidental Mutation 'R7131:Sptbn2'
| ID |
552712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
045216-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7131 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4711208-4752353 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4749460 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 2097
(Q2097L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
[ENSMUST00000178353]
|
| AlphaFold |
Q68FG2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000008991
AA Change: Q2097L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: Q2097L
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931409K22Rik |
A |
G |
5: 24,548,956 (GRCm38) |
V435A |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,291,893 (GRCm38) |
N1252S |
probably benign |
Het |
| Abcc3 |
A |
T |
11: 94,365,031 (GRCm38) |
F543I |
probably damaging |
Het |
| Adam15 |
T |
A |
3: 89,346,980 (GRCm38) |
Q170L |
possibly damaging |
Het |
| AF366264 |
A |
T |
8: 13,836,982 (GRCm38) |
W370R |
probably damaging |
Het |
| Aldoc |
A |
G |
11: 78,324,456 (GRCm38) |
I19V |
possibly damaging |
Het |
| Atrip |
T |
C |
9: 109,060,420 (GRCm38) |
I711M |
probably benign |
Het |
| Brwd1 |
A |
C |
16: 96,066,498 (GRCm38) |
L149R |
probably damaging |
Het |
| Capn9 |
A |
T |
8: 124,576,278 (GRCm38) |
D45V |
probably damaging |
Het |
| Card9 |
G |
A |
2: 26,358,835 (GRCm38) |
R101C |
probably damaging |
Het |
| Casc1 |
A |
T |
6: 145,177,406 (GRCm38) |
L578Q |
probably null |
Het |
| Ccdc36 |
A |
T |
9: 108,417,420 (GRCm38) |
D98E |
probably benign |
Het |
| Ccdc87 |
A |
G |
19: 4,841,757 (GRCm38) |
E759G |
probably damaging |
Het |
| Cep250 |
T |
C |
2: 155,965,077 (GRCm38) |
M193T |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,821,104 (GRCm38) |
K3029E |
probably benign |
Het |
| Chrna9 |
G |
A |
5: 65,977,141 (GRCm38) |
G445D |
possibly damaging |
Het |
| Cluap1 |
C |
T |
16: 3,940,775 (GRCm38) |
S367L |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,929,486 (GRCm38) |
D200G |
unknown |
Het |
| Crhr2 |
T |
C |
6: 55,092,127 (GRCm38) |
N388D |
|
Het |
| Cyp2b23 |
A |
G |
7: 26,681,413 (GRCm38) |
L129P |
probably benign |
Het |
| Cyr61 |
T |
C |
3: 145,648,781 (GRCm38) |
D125G |
probably damaging |
Het |
| Dctd |
A |
G |
8: 48,112,040 (GRCm38) |
S67G |
probably benign |
Het |
| Dhtkd1 |
C |
G |
2: 5,904,070 (GRCm38) |
V738L |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 118,079,658 (GRCm38) |
D2173N |
probably benign |
Het |
| Dnah7c |
G |
T |
1: 46,681,772 (GRCm38) |
A2819S |
probably benign |
Het |
| Dot1l |
A |
G |
10: 80,792,341 (GRCm38) |
H1071R |
unknown |
Het |
| Doxl2 |
T |
A |
6: 48,976,372 (GRCm38) |
Y410* |
probably null |
Het |
| Dync2h1 |
T |
A |
9: 7,075,786 (GRCm38) |
D3027V |
probably damaging |
Het |
| Efl1 |
A |
G |
7: 82,658,064 (GRCm38) |
Y56C |
probably damaging |
Het |
| Eif4e1b |
A |
T |
13: 54,784,100 (GRCm38) |
R29W |
probably null |
Het |
| Evc2 |
A |
G |
5: 37,410,258 (GRCm38) |
R860G |
probably damaging |
Het |
| Fbxl12 |
G |
A |
9: 20,644,383 (GRCm38) |
|
probably benign |
Het |
| Fibp |
T |
A |
19: 5,461,491 (GRCm38) |
I129N |
probably damaging |
Het |
| Folh1 |
G |
T |
7: 86,726,112 (GRCm38) |
H555Q |
probably damaging |
Het |
| Gcnt4 |
A |
T |
13: 96,946,519 (GRCm38) |
T108S |
probably damaging |
Het |
| Gm436 |
A |
G |
4: 144,670,067 (GRCm38) |
V365A |
probably damaging |
Het |
| H1fnt |
T |
A |
15: 98,256,369 (GRCm38) |
K300* |
probably null |
Het |
| Hecw2 |
A |
T |
1: 53,865,121 (GRCm38) |
V1156E |
probably damaging |
Het |
| Herc3 |
C |
G |
6: 58,887,424 (GRCm38) |
A681G |
probably damaging |
Het |
| Igkv13-84 |
T |
A |
6: 68,939,780 (GRCm38) |
C20* |
probably null |
Het |
| Ivd |
C |
A |
2: 118,869,774 (GRCm38) |
T94K |
probably damaging |
Het |
| Kank2 |
C |
T |
9: 21,794,679 (GRCm38) |
A348T |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,367,494 (GRCm38) |
Y889C |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 64,773,068 (GRCm38) |
V1272A |
probably damaging |
Het |
| Kmt2d |
GCTGCTGCT |
GCTGCTGCTCCTGCTGCT |
15: 98,849,616 (GRCm38) |
|
probably benign |
Het |
| Kmt5b |
T |
A |
19: 3,815,412 (GRCm38) |
D825E |
probably benign |
Het |
| Krt39 |
C |
T |
11: 99,520,871 (GRCm38) |
A130T |
probably benign |
Het |
| Krtap4-9 |
C |
T |
11: 99,785,457 (GRCm38) |
T68I |
unknown |
Het |
| Lmbr1l |
A |
T |
15: 98,906,323 (GRCm38) |
V365E |
probably benign |
Het |
| Lonp1 |
C |
T |
17: 56,617,814 (GRCm38) |
R531Q |
probably damaging |
Het |
| Mecom |
T |
A |
3: 29,980,945 (GRCm38) |
H194L |
probably damaging |
Het |
| Mlx |
C |
T |
11: 101,089,242 (GRCm38) |
H188Y |
probably damaging |
Het |
| Mrps10 |
T |
C |
17: 47,375,015 (GRCm38) |
S77P |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 108,084,931 (GRCm38) |
E716G |
probably null |
Het |
| Mttp |
C |
T |
3: 138,116,132 (GRCm38) |
V210I |
probably benign |
Het |
| Mug2 |
T |
C |
6: 122,075,247 (GRCm38) |
V988A |
probably damaging |
Het |
| Ndufb6 |
A |
G |
4: 40,279,336 (GRCm38) |
M1T |
probably null |
Het |
| Neurog1 |
A |
T |
13: 56,251,750 (GRCm38) |
N61K |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 107,184,814 (GRCm38) |
D581G |
possibly damaging |
Het |
| Nlrp4a |
C |
A |
7: 26,449,833 (GRCm38) |
N288K |
probably benign |
Het |
| Notch3 |
T |
A |
17: 32,144,217 (GRCm38) |
H1264L |
probably benign |
Het |
| Olfr384 |
A |
T |
11: 73,602,736 (GRCm38) |
D52V |
possibly damaging |
Het |
| Olfr394 |
A |
T |
11: 73,887,954 (GRCm38) |
C139* |
probably null |
Het |
| Olfr402 |
A |
G |
11: 74,155,780 (GRCm38) |
M209V |
probably benign |
Het |
| Patl2 |
A |
T |
2: 122,121,782 (GRCm38) |
|
probably null |
Het |
| Pfkfb4 |
A |
G |
9: 109,007,302 (GRCm38) |
T133A |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,304,554 (GRCm38) |
E471G |
probably null |
Het |
| Postn |
T |
C |
3: 54,362,635 (GRCm38) |
V45A |
probably damaging |
Het |
| Ppan |
T |
A |
9: 20,891,154 (GRCm38) |
V257E |
possibly damaging |
Het |
| Ptcra |
C |
G |
17: 46,763,596 (GRCm38) |
A7P |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 76,066,340 (GRCm38) |
R523H |
probably damaging |
Het |
| Pycrl |
A |
T |
15: 75,918,695 (GRCm38) |
I105N |
possibly damaging |
Het |
| Rfx1 |
C |
A |
8: 84,095,079 (GRCm38) |
Q815K |
probably damaging |
Het |
| Rfx3 |
T |
A |
19: 27,768,628 (GRCm38) |
K668* |
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,640,327 (GRCm38) |
D3661E |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,668,811 (GRCm38) |
|
probably null |
Het |
| Sec23ip |
T |
A |
7: 128,779,640 (GRCm38) |
S974T |
probably damaging |
Het |
| Setbp1 |
A |
G |
18: 79,086,960 (GRCm38) |
F19S |
probably benign |
Het |
| Setd1a |
AAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAG |
7: 127,796,418 (GRCm38) |
|
probably benign |
Het |
| Sh3pxd2b |
A |
G |
11: 32,422,072 (GRCm38) |
K413R |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,449,803 (GRCm38) |
V544A |
probably damaging |
Het |
| Slc6a7 |
T |
C |
18: 61,002,202 (GRCm38) |
Y418C |
probably damaging |
Het |
| Snx19 |
T |
G |
9: 30,427,893 (GRCm38) |
I109S |
probably damaging |
Het |
| Spg20 |
T |
C |
3: 55,121,799 (GRCm38) |
|
probably null |
Het |
| Syne1 |
T |
C |
10: 5,228,221 (GRCm38) |
K4751R |
probably damaging |
Het |
| Tigit |
C |
A |
16: 43,662,252 (GRCm38) |
G40C |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,297,972 (GRCm38) |
I264K |
probably damaging |
Het |
| Tom1 |
T |
A |
8: 75,057,249 (GRCm38) |
I287N |
possibly damaging |
Het |
| Top2a |
G |
A |
11: 99,004,182 (GRCm38) |
P864L |
possibly damaging |
Het |
| Trmt44 |
A |
T |
5: 35,571,066 (GRCm38) |
V290E |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,304,403 (GRCm38) |
I93T |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,382,303 (GRCm38) |
H1147Q |
possibly damaging |
Het |
| Uspl1 |
A |
T |
5: 149,193,935 (GRCm38) |
R109S |
probably benign |
Het |
| Vav3 |
T |
A |
3: 109,664,346 (GRCm38) |
F755I |
probably damaging |
Het |
| Vezt |
A |
T |
10: 93,970,547 (GRCm38) |
Y667* |
probably null |
Het |
| Vmn1r231 |
T |
A |
17: 20,889,878 (GRCm38) |
L258F |
possibly damaging |
Het |
| Zfp207 |
T |
C |
11: 80,395,528 (GRCm38) |
M489T |
unknown |
Het |
| Zfp462 |
A |
G |
4: 55,009,380 (GRCm38) |
T449A |
probably benign |
Het |
| Zfp956 |
C |
A |
6: 47,955,847 (GRCm38) |
Q19K |
probably benign |
Het |
| Zkscan8 |
A |
T |
13: 21,525,273 (GRCm38) |
W152R |
probably damaging |
Het |
|
| Other mutations in Sptbn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Sptbn2
|
APN |
19 |
4,724,705 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00688:Sptbn2
|
APN |
19 |
4,725,938 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01339:Sptbn2
|
APN |
19 |
4,745,972 (GRCm38) |
nonsense |
probably null |
|
|
IGL01373:Sptbn2
|
APN |
19 |
4,745,972 (GRCm38) |
nonsense |
probably null |
|
|
IGL01420:Sptbn2
|
APN |
19 |
4,734,125 (GRCm38) |
missense |
probably benign |
|
|
IGL01456:Sptbn2
|
APN |
19 |
4,746,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01953:Sptbn2
|
APN |
19 |
4,749,693 (GRCm38) |
missense |
probably benign |
|
|
IGL03026:Sptbn2
|
APN |
19 |
4,724,233 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03275:Sptbn2
|
APN |
19 |
4,732,661 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL03286:Sptbn2
|
APN |
19 |
4,747,832 (GRCm38) |
missense |
probably damaging |
0.97 |
|
F5770:Sptbn2
|
UTSW |
19 |
4,750,632 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4696001:Sptbn2
|
UTSW |
19 |
4,745,577 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0046:Sptbn2
|
UTSW |
19 |
4,745,377 (GRCm38) |
intron |
probably benign |
|
|
R0046:Sptbn2
|
UTSW |
19 |
4,745,377 (GRCm38) |
intron |
probably benign |
|
|
R0121:Sptbn2
|
UTSW |
19 |
4,745,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0127:Sptbn2
|
UTSW |
19 |
4,724,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0212:Sptbn2
|
UTSW |
19 |
4,746,942 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0277:Sptbn2
|
UTSW |
19 |
4,745,145 (GRCm38) |
missense |
probably benign |
0.28 |
|
R0417:Sptbn2
|
UTSW |
19 |
4,737,926 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0457:Sptbn2
|
UTSW |
19 |
4,745,938 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0536:Sptbn2
|
UTSW |
19 |
4,726,690 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0631:Sptbn2
|
UTSW |
19 |
4,739,986 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0734:Sptbn2
|
UTSW |
19 |
4,748,123 (GRCm38) |
nonsense |
probably null |
|
|
R0742:Sptbn2
|
UTSW |
19 |
4,718,983 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1195:Sptbn2
|
UTSW |
19 |
4,745,893 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1195:Sptbn2
|
UTSW |
19 |
4,745,893 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1195:Sptbn2
|
UTSW |
19 |
4,745,893 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1364:Sptbn2
|
UTSW |
19 |
4,732,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1495:Sptbn2
|
UTSW |
19 |
4,718,976 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1498:Sptbn2
|
UTSW |
19 |
4,744,246 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1606:Sptbn2
|
UTSW |
19 |
4,750,242 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1678:Sptbn2
|
UTSW |
19 |
4,750,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1746:Sptbn2
|
UTSW |
19 |
4,745,964 (GRCm38) |
nonsense |
probably null |
|
|
R1820:Sptbn2
|
UTSW |
19 |
4,726,596 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1830:Sptbn2
|
UTSW |
19 |
4,732,541 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1863:Sptbn2
|
UTSW |
19 |
4,732,685 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R1967:Sptbn2
|
UTSW |
19 |
4,745,299 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2085:Sptbn2
|
UTSW |
19 |
4,738,559 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2301:Sptbn2
|
UTSW |
19 |
4,734,138 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2310:Sptbn2
|
UTSW |
19 |
4,718,935 (GRCm38) |
missense |
probably benign |
0.19 |
|
R2888:Sptbn2
|
UTSW |
19 |
4,748,636 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R3788:Sptbn2
|
UTSW |
19 |
4,745,922 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4429:Sptbn2
|
UTSW |
19 |
4,738,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4536:Sptbn2
|
UTSW |
19 |
4,732,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4662:Sptbn2
|
UTSW |
19 |
4,739,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4672:Sptbn2
|
UTSW |
19 |
4,732,496 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4731:Sptbn2
|
UTSW |
19 |
4,742,480 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4747:Sptbn2
|
UTSW |
19 |
4,748,154 (GRCm38) |
missense |
probably benign |
0.27 |
|
R4889:Sptbn2
|
UTSW |
19 |
4,729,430 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4891:Sptbn2
|
UTSW |
19 |
4,738,469 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4965:Sptbn2
|
UTSW |
19 |
4,729,309 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4968:Sptbn2
|
UTSW |
19 |
4,729,202 (GRCm38) |
splice site |
probably null |
|
|
R4981:Sptbn2
|
UTSW |
19 |
4,751,658 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5159:Sptbn2
|
UTSW |
19 |
4,737,857 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5202:Sptbn2
|
UTSW |
19 |
4,724,184 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5253:Sptbn2
|
UTSW |
19 |
4,750,082 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5294:Sptbn2
|
UTSW |
19 |
4,718,908 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5465:Sptbn2
|
UTSW |
19 |
4,750,105 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5546:Sptbn2
|
UTSW |
19 |
4,725,950 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5593:Sptbn2
|
UTSW |
19 |
4,748,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5780:Sptbn2
|
UTSW |
19 |
4,724,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5835:Sptbn2
|
UTSW |
19 |
4,738,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6008:Sptbn2
|
UTSW |
19 |
4,739,278 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6108:Sptbn2
|
UTSW |
19 |
4,731,392 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6236:Sptbn2
|
UTSW |
19 |
4,748,138 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6307:Sptbn2
|
UTSW |
19 |
4,724,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6383:Sptbn2
|
UTSW |
19 |
4,732,496 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6397:Sptbn2
|
UTSW |
19 |
4,742,418 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6453:Sptbn2
|
UTSW |
19 |
4,744,180 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6561:Sptbn2
|
UTSW |
19 |
4,747,926 (GRCm38) |
missense |
probably benign |
0.39 |
|
R6564:Sptbn2
|
UTSW |
19 |
4,732,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6644:Sptbn2
|
UTSW |
19 |
4,749,012 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6703:Sptbn2
|
UTSW |
19 |
4,749,815 (GRCm38) |
missense |
probably benign |
|
|
R6703:Sptbn2
|
UTSW |
19 |
4,749,814 (GRCm38) |
missense |
probably benign |
|
|
R6753:Sptbn2
|
UTSW |
19 |
4,747,785 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7007:Sptbn2
|
UTSW |
19 |
4,744,145 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7219:Sptbn2
|
UTSW |
19 |
4,724,173 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7285:Sptbn2
|
UTSW |
19 |
4,737,443 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7308:Sptbn2
|
UTSW |
19 |
4,751,574 (GRCm38) |
missense |
probably benign |
|
|
R7469:Sptbn2
|
UTSW |
19 |
4,745,118 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7502:Sptbn2
|
UTSW |
19 |
4,748,082 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7623:Sptbn2
|
UTSW |
19 |
4,726,168 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7635:Sptbn2
|
UTSW |
19 |
4,744,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7733:Sptbn2
|
UTSW |
19 |
4,749,012 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7738:Sptbn2
|
UTSW |
19 |
4,724,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7742:Sptbn2
|
UTSW |
19 |
4,749,012 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7767:Sptbn2
|
UTSW |
19 |
4,734,143 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R7795:Sptbn2
|
UTSW |
19 |
4,749,012 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7796:Sptbn2
|
UTSW |
19 |
4,749,012 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7871:Sptbn2
|
UTSW |
19 |
4,749,012 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7877:Sptbn2
|
UTSW |
19 |
4,744,262 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7920:Sptbn2
|
UTSW |
19 |
4,749,012 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7921:Sptbn2
|
UTSW |
19 |
4,749,012 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7923:Sptbn2
|
UTSW |
19 |
4,746,799 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8137:Sptbn2
|
UTSW |
19 |
4,737,403 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8305:Sptbn2
|
UTSW |
19 |
4,729,130 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8695:Sptbn2
|
UTSW |
19 |
4,746,696 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8790:Sptbn2
|
UTSW |
19 |
4,732,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9125:Sptbn2
|
UTSW |
19 |
4,734,213 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9483:Sptbn2
|
UTSW |
19 |
4,739,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9620:Sptbn2
|
UTSW |
19 |
4,750,507 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9631:Sptbn2
|
UTSW |
19 |
4,738,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9646:Sptbn2
|
UTSW |
19 |
4,745,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9694:Sptbn2
|
UTSW |
19 |
4,750,507 (GRCm38) |
missense |
probably damaging |
0.99 |
|
V7580:Sptbn2
|
UTSW |
19 |
4,750,632 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Sptbn2
|
UTSW |
19 |
4,745,191 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1176:Sptbn2
|
UTSW |
19 |
4,738,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCATGTCAGTCAGCTTGGG -3'
(R):5'- TGGCAATTTTGACTGAGTCCTAG -3'
Sequencing Primer
(F):5'- AGCTTGGGGGCCACTAAGATC -3'
(R):5'- CTTAGCTTCAGCATCCTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation