Incidental Mutation 'R0457:Sptbn2'
| ID |
41266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
038657-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0457 (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 C
at 4795966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1715
(V1715A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
[ENSMUST00000178353]
|
| AlphaFold |
Q68FG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008991
AA Change: V1715A
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: V1715A
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
G |
3: 59,844,054 (GRCm39) |
I249M |
possibly damaging |
Het |
| Adcy5 |
T |
C |
16: 35,094,915 (GRCm39) |
S691P |
probably benign |
Het |
| Ajm1 |
G |
T |
2: 25,468,358 (GRCm39) |
R518S |
possibly damaging |
Het |
| Aspscr1 |
A |
G |
11: 120,568,444 (GRCm39) |
E12G |
probably benign |
Het |
| Atp2a2 |
T |
C |
5: 122,607,777 (GRCm39) |
Q244R |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,959,023 (GRCm39) |
M3818V |
probably benign |
Het |
| Birc6 |
C |
T |
17: 74,969,620 (GRCm39) |
A4230V |
probably damaging |
Het |
| Bub1b |
T |
C |
2: 118,440,340 (GRCm39) |
F148S |
probably damaging |
Het |
| C1ra |
T |
C |
6: 124,499,712 (GRCm39) |
S633P |
probably benign |
Het |
| Cacna2d1 |
A |
G |
5: 16,472,414 (GRCm39) |
T274A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,232,095 (GRCm39) |
W998R |
possibly damaging |
Het |
| Crbn |
T |
C |
6: 106,758,018 (GRCm39) |
K404R |
probably benign |
Het |
| Cryga |
T |
C |
1: 65,142,204 (GRCm39) |
Y63C |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,551,407 (GRCm39) |
|
probably null |
Het |
| Defa-ps1 |
A |
T |
8: 22,185,758 (GRCm39) |
|
noncoding transcript |
Het |
| Dnajc10 |
T |
A |
2: 80,175,290 (GRCm39) |
V559D |
possibly damaging |
Het |
| Dock1 |
A |
T |
7: 134,739,874 (GRCm39) |
E1423D |
possibly damaging |
Het |
| Dpf3 |
A |
T |
12: 83,319,179 (GRCm39) |
S44T |
probably damaging |
Het |
| Dyrk3 |
A |
T |
1: 131,064,094 (GRCm39) |
V31D |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,021,769 (GRCm39) |
S1415P |
probably benign |
Het |
| Fam186b |
A |
C |
15: 99,169,166 (GRCm39) |
I927S |
probably benign |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Fer1l6 |
G |
A |
15: 58,509,943 (GRCm39) |
|
probably null |
Het |
| Fndc7 |
G |
T |
3: 108,783,861 (GRCm39) |
S249R |
probably benign |
Het |
| Ganab |
A |
G |
19: 8,884,614 (GRCm39) |
E139G |
possibly damaging |
Het |
| Gbp5 |
A |
G |
3: 142,213,518 (GRCm39) |
D478G |
probably damaging |
Het |
| Gm17324 |
T |
A |
9: 78,355,580 (GRCm39) |
M1K |
probably null |
Het |
| Gtpbp6 |
T |
A |
5: 110,254,608 (GRCm39) |
R126S |
probably damaging |
Het |
| Hapln4 |
G |
A |
8: 70,541,122 (GRCm39) |
W385* |
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,305,296 (GRCm39) |
|
probably null |
Het |
| Hsp90ab1 |
A |
G |
17: 45,879,914 (GRCm39) |
V534A |
probably damaging |
Het |
| Kat6b |
C |
A |
14: 21,720,598 (GRCm39) |
T1650K |
probably damaging |
Het |
| Kpna1 |
T |
A |
16: 35,823,275 (GRCm39) |
D42E |
probably benign |
Het |
| Lrrc14b |
A |
G |
13: 74,509,279 (GRCm39) |
M376T |
probably benign |
Het |
| Lrrc40 |
A |
G |
3: 157,760,201 (GRCm39) |
|
probably null |
Het |
| Ltv1 |
T |
C |
10: 13,067,887 (GRCm39) |
T34A |
probably benign |
Het |
| Mga |
T |
A |
2: 119,746,969 (GRCm39) |
N373K |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,357,505 (GRCm39) |
M101K |
probably damaging |
Het |
| Mthfd2l |
T |
C |
5: 91,168,065 (GRCm39) |
M320T |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,838,514 (GRCm39) |
E506K |
probably benign |
Het |
| Ngb |
T |
C |
12: 87,147,503 (GRCm39) |
D54G |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,699,014 (GRCm39) |
F84L |
probably benign |
Het |
| Or1j18 |
A |
T |
2: 36,624,545 (GRCm39) |
I71F |
probably benign |
Het |
| Or52n2b |
T |
A |
7: 104,566,180 (GRCm39) |
T108S |
probably benign |
Het |
| Phf12 |
T |
A |
11: 77,908,994 (GRCm39) |
I358N |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,061,801 (GRCm39) |
F2577S |
probably damaging |
Het |
| Polr1c |
T |
A |
17: 46,558,689 (GRCm39) |
Y36F |
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,413,155 (GRCm39) |
M672K |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,785,539 (GRCm39) |
Y905C |
probably damaging |
Het |
| Ptpn23 |
T |
A |
9: 110,215,361 (GRCm39) |
H1433L |
possibly damaging |
Het |
| Rnf11 |
A |
T |
4: 109,314,149 (GRCm39) |
L80Q |
probably damaging |
Het |
| Sbp |
G |
A |
17: 24,164,286 (GRCm39) |
G183D |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,403,437 (GRCm39) |
C90S |
possibly damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,668,471 (GRCm39) |
L710P |
probably damaging |
Het |
| Spire1 |
T |
A |
18: 67,685,670 (GRCm39) |
I35F |
probably damaging |
Het |
| St7 |
T |
C |
6: 17,819,281 (GRCm39) |
F62L |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,118,136 (GRCm39) |
G862D |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 4,972,041 (GRCm39) |
M8789K |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 122,906,421 (GRCm39) |
L965P |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,284,167 (GRCm39) |
M772K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,608,851 (GRCm39) |
K15976* |
probably null |
Het |
| Unc13a |
A |
C |
8: 72,110,645 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
C |
13: 89,851,318 (GRCm39) |
E1214G |
possibly damaging |
Het |
| Vmn1r29 |
T |
C |
6: 58,285,072 (GRCm39) |
V264A |
probably benign |
Het |
| Vmn1r60 |
T |
A |
7: 5,548,118 (GRCm39) |
|
probably benign |
Het |
| Wdr90 |
C |
T |
17: 26,079,459 (GRCm39) |
R225H |
probably benign |
Het |
| Wnk1 |
G |
A |
6: 119,946,293 (GRCm39) |
T620I |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,405,968 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,902 (GRCm39) |
C387* |
probably null |
Het |
| Zfp521 |
T |
C |
18: 13,977,897 (GRCm39) |
T839A |
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 |
|
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 |
|
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'- AGGTGACACAGAGCAAGCCATTC -3'
(R):5'- GGCTAGATTTCTGCACCAGAGGAC -3'
Sequencing Primer
(F):5'- GAGCAAGCCATTCTCTCTACC -3'
(R):5'- GCTCAAAAGTTGTGCAGAACTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation