Incidental Mutation 'R4981:Sptbn2'
| ID |
384878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
042576-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4981 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4801686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 2366
(V2366A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
[ENSMUST00000036744]
[ENSMUST00000178353]
[ENSMUST00000182200]
|
| AlphaFold |
Q68FG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008991
AA Change: V2366A
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: V2366A
| 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: ENSMUST00000036744
|
| SMART Domains |
Protein: ENSMUSP00000038256
Gene: ENSMUSG00000033760
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
68 |
5.4e-20 |
SMART |
|
RRM
|
79 |
144 |
4.77e-21 |
SMART |
|
ZnF_C2HC
|
161 |
177 |
1.23e-5 |
SMART |
|
low complexity region
|
224 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
295 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182065
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182200
|
| SMART Domains |
Protein: ENSMUSP00000138146
Gene: ENSMUSG00000033760
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
68 |
5.4e-20 |
SMART |
|
RRM
|
79 |
145 |
9.34e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182821
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183008
|
| Meta Mutation Damage Score |
0.0602 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
100% (105/105) |
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
T |
12: 55,095,772 (GRCm39) |
|
probably null |
Het |
| Aatf |
T |
C |
11: 84,402,323 (GRCm39) |
D121G |
probably benign |
Het |
| Amer2 |
T |
A |
14: 60,617,176 (GRCm39) |
L331H |
probably damaging |
Het |
| Ang4 |
T |
G |
14: 52,001,829 (GRCm39) |
K40Q |
probably benign |
Het |
| Aspm |
A |
C |
1: 139,398,498 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
A |
T |
6: 118,728,432 (GRCm39) |
D337E |
probably benign |
Het |
| Ccdc124 |
T |
C |
8: 71,321,429 (GRCm39) |
E134G |
probably benign |
Het |
| Ccdc7a |
G |
T |
8: 129,711,464 (GRCm39) |
A312E |
probably benign |
Het |
| Cd209g |
A |
G |
8: 4,186,845 (GRCm39) |
D130G |
probably damaging |
Het |
| Cd320 |
T |
C |
17: 34,066,549 (GRCm39) |
S96P |
probably benign |
Het |
| Cenatac |
A |
T |
9: 44,329,245 (GRCm39) |
F14Y |
probably damaging |
Het |
| Clu |
C |
G |
14: 66,210,815 (GRCm39) |
Q134E |
probably damaging |
Het |
| Cnksr3 |
T |
A |
10: 7,110,777 (GRCm39) |
H28L |
probably benign |
Het |
| Cntnap1 |
T |
C |
11: 101,067,159 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
C |
T |
15: 71,732,915 (GRCm39) |
C546Y |
unknown |
Het |
| Col6a3 |
C |
T |
1: 90,706,565 (GRCm39) |
V2183I |
unknown |
Het |
| Cop1 |
A |
G |
1: 159,152,638 (GRCm39) |
|
probably benign |
Het |
| Cpne8 |
T |
C |
15: 90,563,438 (GRCm39) |
I24V |
probably benign |
Het |
| Cspp1 |
T |
A |
1: 10,196,688 (GRCm39) |
N900K |
probably damaging |
Het |
| Dennd5b |
G |
A |
6: 148,911,270 (GRCm39) |
L978F |
possibly damaging |
Het |
| Depdc1a |
G |
T |
3: 159,229,550 (GRCm39) |
M627I |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,555,424 (GRCm39) |
N2721K |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dsg1b |
A |
G |
18: 20,541,925 (GRCm39) |
T811A |
possibly damaging |
Het |
| Emilin1 |
C |
G |
5: 31,076,695 (GRCm39) |
Q847E |
probably benign |
Het |
| Epha3 |
A |
T |
16: 63,472,775 (GRCm39) |
V370D |
probably benign |
Het |
| Epha5 |
T |
A |
5: 84,298,342 (GRCm39) |
T406S |
probably damaging |
Het |
| Ephb1 |
A |
T |
9: 101,918,159 (GRCm39) |
I450N |
probably benign |
Het |
| Ephb2 |
A |
G |
4: 136,423,321 (GRCm39) |
M319T |
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,132,833 (GRCm39) |
|
probably null |
Het |
| Fbxo9 |
G |
A |
9: 77,993,168 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
T |
C |
6: 91,966,281 (GRCm39) |
I838T |
probably damaging |
Het |
| Fnbp4 |
T |
C |
2: 90,596,174 (GRCm39) |
F582L |
probably damaging |
Het |
| Frs3 |
T |
C |
17: 48,000,187 (GRCm39) |
|
probably null |
Het |
| Fscb |
C |
T |
12: 64,520,393 (GRCm39) |
V358I |
possibly damaging |
Het |
| Fus |
G |
T |
7: 127,566,727 (GRCm39) |
|
probably benign |
Het |
| Fyb1 |
CCTCTCTCTCTCTCTCTCTCT |
CCTCTCTCTCTCTCTCTCT |
15: 6,676,092 (GRCm39) |
|
probably benign |
Het |
| Glra3 |
A |
T |
8: 56,444,270 (GRCm39) |
I77F |
possibly damaging |
Het |
| Gm4454 |
C |
T |
7: 38,269,860 (GRCm39) |
|
noncoding transcript |
Het |
| Gng3 |
G |
A |
19: 8,815,625 (GRCm39) |
A37V |
possibly damaging |
Het |
| Grin3b |
T |
A |
10: 79,812,191 (GRCm39) |
|
probably benign |
Het |
| Herpud1 |
A |
G |
8: 95,118,422 (GRCm39) |
Y41C |
probably damaging |
Het |
| Igkv4-92 |
G |
C |
6: 68,732,028 (GRCm39) |
S115R |
possibly damaging |
Het |
| Ikbip |
T |
A |
10: 90,931,848 (GRCm39) |
I164N |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,388,759 (GRCm39) |
T783A |
probably benign |
Het |
| Kcnq3 |
A |
T |
15: 65,903,254 (GRCm39) |
V152E |
possibly damaging |
Het |
| Kif23 |
C |
T |
9: 61,839,153 (GRCm39) |
R314H |
probably damaging |
Het |
| Klc4 |
T |
C |
17: 46,955,287 (GRCm39) |
H49R |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 160,930,575 (GRCm39) |
I309N |
possibly damaging |
Het |
| Lgals4 |
A |
G |
7: 28,540,701 (GRCm39) |
Y268C |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,306,761 (GRCm39) |
Q13R |
probably benign |
Het |
| Lmtk2 |
C |
A |
5: 144,113,265 (GRCm39) |
F1328L |
probably damaging |
Het |
| Mapk14 |
A |
G |
17: 28,960,765 (GRCm39) |
R179G |
probably damaging |
Het |
| Mbd3l1 |
A |
T |
9: 18,396,201 (GRCm39) |
T109S |
probably benign |
Het |
| Megf6 |
T |
C |
4: 154,351,907 (GRCm39) |
F1169L |
possibly damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,984,959 (GRCm39) |
V240D |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myh1 |
T |
C |
11: 67,115,300 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,716,553 (GRCm39) |
I172V |
probably benign |
Het |
| Nemp1 |
T |
A |
10: 127,529,399 (GRCm39) |
L178Q |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,641,881 (GRCm39) |
S110P |
probably damaging |
Het |
| Or4a75 |
A |
G |
2: 89,447,769 (GRCm39) |
Y256H |
probably damaging |
Het |
| Or4c117 |
T |
C |
2: 88,955,845 (GRCm39) |
T77A |
probably benign |
Het |
| Or51k1 |
A |
G |
7: 103,661,312 (GRCm39) |
I199T |
probably damaging |
Het |
| Or5ak25 |
A |
G |
2: 85,268,813 (GRCm39) |
S230P |
probably damaging |
Het |
| Or8k30 |
T |
C |
2: 86,339,171 (GRCm39) |
Y123H |
probably damaging |
Het |
| Or9q1 |
A |
T |
19: 13,805,458 (GRCm39) |
F101I |
probably damaging |
Het |
| Pard3b |
T |
G |
1: 62,383,219 (GRCm39) |
M771R |
probably damaging |
Het |
| Phkg2 |
A |
G |
7: 127,181,551 (GRCm39) |
I245V |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,254,103 (GRCm39) |
M628K |
possibly damaging |
Het |
| Poln |
A |
G |
5: 34,264,429 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
T |
2: 121,142,871 (GRCm39) |
S1172T |
probably damaging |
Het |
| Prdm5 |
A |
T |
6: 65,847,446 (GRCm39) |
H363L |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,496,173 (GRCm39) |
Y788C |
probably damaging |
Het |
| Prrc2c |
T |
A |
1: 162,520,116 (GRCm39) |
R2076S |
probably damaging |
Het |
| Sh2d2a |
A |
G |
3: 87,756,728 (GRCm39) |
Y191C |
probably damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,041,919 (GRCm39) |
I94T |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,796,087 (GRCm39) |
M387L |
probably benign |
Het |
| Syne2 |
T |
G |
12: 75,987,993 (GRCm39) |
M1718R |
probably damaging |
Het |
| Synm |
G |
T |
7: 67,384,235 (GRCm39) |
F700L |
probably benign |
Het |
| Tmco4 |
T |
C |
4: 138,718,012 (GRCm39) |
F51L |
possibly damaging |
Het |
| Tmem104 |
C |
A |
11: 115,095,962 (GRCm39) |
P168T |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,905 (GRCm39) |
T439K |
probably benign |
Het |
| Trim2 |
A |
G |
3: 84,085,042 (GRCm39) |
L559P |
probably damaging |
Het |
| Trim3 |
A |
G |
7: 105,268,335 (GRCm39) |
V149A |
probably damaging |
Het |
| Triml2 |
A |
G |
8: 43,640,717 (GRCm39) |
N191S |
probably benign |
Het |
| Usp4 |
A |
G |
9: 108,258,617 (GRCm39) |
D16G |
probably benign |
Het |
| Vmn2r58 |
G |
A |
7: 41,486,885 (GRCm39) |
T670I |
probably damaging |
Het |
| Vmn2r97 |
G |
T |
17: 19,160,436 (GRCm39) |
G524* |
probably null |
Het |
| Xpo5 |
C |
A |
17: 46,531,743 (GRCm39) |
F426L |
probably damaging |
Het |
| Zfp800 |
A |
G |
6: 28,247,190 (GRCm39) |
L84S |
probably damaging |
Het |
| Zranb2 |
T |
G |
3: 157,252,378 (GRCm39) |
|
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
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 |
|
|
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'- CCAAGTCAGTCCTTGTGTATGAG -3'
(R):5'- ATGGGTTGACCTTAGCAGCAG -3'
Sequencing Primer
(F):5'- GTATGAGCTGATGTCTCCCTGTC -3'
(R):5'- GTTGACCTTAGCAGCAGACCCTAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation