Incidental Mutation 'R1678:Sptbn2'
| ID |
188322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
039714-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1678 (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 4800525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 2247
(Y2247H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
[ENSMUST00000178353]
|
| AlphaFold |
Q68FG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008991
AA Change: Y2247H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: Y2247H
| 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: 96.5%
- 20x: 93.2%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
C |
17: 24,554,594 (GRCm39) |
I120S |
probably benign |
Het |
| Abcb5 |
A |
C |
12: 118,929,064 (GRCm39) |
|
probably benign |
Het |
| Abcc4 |
T |
A |
14: 118,832,306 (GRCm39) |
T775S |
probably benign |
Het |
| Acnat2 |
T |
A |
4: 49,380,568 (GRCm39) |
Y270F |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,756,301 (GRCm39) |
I548T |
probably damaging |
Het |
| Apbb1ip |
A |
T |
2: 22,764,892 (GRCm39) |
|
probably null |
Het |
| Asb17 |
C |
T |
3: 153,550,004 (GRCm39) |
S12F |
probably damaging |
Het |
| Atad2b |
G |
A |
12: 5,015,899 (GRCm39) |
V542I |
possibly damaging |
Het |
| Atxn7 |
T |
C |
14: 14,096,239 (GRCm38) |
F515L |
probably damaging |
Het |
| Bicc1 |
A |
G |
10: 70,779,348 (GRCm39) |
L680P |
probably damaging |
Het |
| Bpifb6 |
G |
A |
2: 153,750,562 (GRCm39) |
R351H |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,962,624 (GRCm39) |
F26S |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,517,802 (GRCm38) |
|
probably null |
Het |
| Capza1 |
G |
T |
3: 104,771,669 (GRCm39) |
S9* |
probably null |
Het |
| Ccl11 |
C |
T |
11: 81,948,866 (GRCm39) |
P25L |
probably damaging |
Het |
| Cdyl |
A |
T |
13: 36,040,872 (GRCm39) |
K306N |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,579 (GRCm39) |
V471A |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,464,380 (GRCm39) |
K983E |
unknown |
Het |
| Cp |
A |
C |
3: 20,026,881 (GRCm39) |
K436N |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,968,252 (GRCm39) |
D3125V |
possibly damaging |
Het |
| Daw1 |
A |
T |
1: 83,161,087 (GRCm39) |
N143I |
probably damaging |
Het |
| Dmd |
T |
A |
X: 84,018,368 (GRCm39) |
I3067N |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,656,193 (GRCm39) |
V105A |
probably damaging |
Het |
| Dnah11 |
T |
G |
12: 117,897,580 (GRCm39) |
N3550T |
possibly damaging |
Het |
| Dnm2 |
T |
C |
9: 21,378,828 (GRCm39) |
V129A |
possibly damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,632,096 (GRCm39) |
|
probably null |
Het |
| Dync2i1 |
A |
G |
12: 116,189,590 (GRCm39) |
S640P |
probably damaging |
Het |
| Efemp1 |
G |
A |
11: 28,866,942 (GRCm39) |
E325K |
probably benign |
Het |
| Enox1 |
A |
G |
14: 77,815,096 (GRCm39) |
T85A |
probably benign |
Het |
| Faim2 |
C |
A |
15: 99,418,217 (GRCm39) |
V123F |
possibly damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,830,350 (GRCm39) |
|
probably null |
Het |
| Fign |
T |
C |
2: 63,810,718 (GRCm39) |
E184G |
probably damaging |
Het |
| Fnd3c2 |
T |
C |
X: 105,281,305 (GRCm39) |
T799A |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,427,359 (GRCm39) |
D2931G |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,816,689 (GRCm39) |
T4141A |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,344,705 (GRCm39) |
M546K |
probably benign |
Het |
| Gm21775 |
G |
A |
Y: 10,553,867 (GRCm39) |
V139M |
probably damaging |
Het |
| Gpr83 |
G |
T |
9: 14,778,145 (GRCm39) |
V172F |
probably damaging |
Het |
| Itprid1 |
G |
T |
6: 55,945,499 (GRCm39) |
C740F |
probably benign |
Het |
| Jmjd4 |
A |
G |
11: 59,344,438 (GRCm39) |
Y179C |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,903,281 (GRCm39) |
L143P |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,501,283 (GRCm39) |
V248A |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,117,150 (GRCm39) |
Y2482H |
possibly damaging |
Het |
| Lamb2 |
A |
T |
9: 108,360,885 (GRCm39) |
|
probably null |
Het |
| Lclat1 |
G |
A |
17: 73,503,715 (GRCm39) |
G162R |
probably damaging |
Het |
| Map6 |
T |
C |
7: 98,917,305 (GRCm39) |
V26A |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,663,050 (GRCm39) |
D107V |
probably damaging |
Het |
| Metap1d |
T |
A |
2: 71,355,121 (GRCm39) |
V304D |
possibly damaging |
Het |
| Naca |
A |
G |
10: 127,879,395 (GRCm39) |
|
probably benign |
Het |
| Napg |
T |
C |
18: 63,117,143 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,299,493 (GRCm39) |
F7L |
probably benign |
Het |
| Ndst2 |
T |
C |
14: 20,774,582 (GRCm39) |
T825A |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,775,222 (GRCm39) |
I353T |
probably damaging |
Het |
| Nt5c3b |
T |
A |
11: 100,327,036 (GRCm39) |
I87F |
probably damaging |
Het |
| Nxf3 |
T |
C |
X: 134,976,270 (GRCm39) |
D407G |
probably damaging |
Het |
| Or51f2 |
T |
A |
7: 102,526,870 (GRCm39) |
V181E |
probably damaging |
Het |
| Or8c13 |
A |
T |
9: 38,091,933 (GRCm39) |
F62Y |
possibly damaging |
Het |
| Osbpl3 |
A |
C |
6: 50,313,193 (GRCm39) |
|
probably null |
Het |
| P2rx3 |
T |
C |
2: 84,852,811 (GRCm39) |
T172A |
possibly damaging |
Het |
| Pcdh10 |
G |
T |
3: 45,336,316 (GRCm39) |
E877* |
probably null |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,682 (GRCm39) |
K225N |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,648,115 (GRCm39) |
S419P |
probably damaging |
Het |
| Prex2 |
T |
G |
1: 11,355,313 (GRCm39) |
I1538S |
possibly damaging |
Het |
| Prss59 |
C |
A |
6: 40,906,453 (GRCm39) |
|
probably benign |
Het |
| Rasl10a |
A |
G |
11: 5,009,815 (GRCm39) |
E121G |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,865,372 (GRCm39) |
T754A |
probably benign |
Het |
| Rictor |
T |
C |
15: 6,785,952 (GRCm39) |
V156A |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,815,579 (GRCm39) |
Y104N |
probably damaging |
Het |
| Sctr |
G |
T |
1: 119,964,169 (GRCm39) |
|
probably null |
Het |
| Sqle |
C |
T |
15: 59,196,358 (GRCm39) |
R384W |
probably damaging |
Het |
| Srcin1 |
C |
A |
11: 97,409,470 (GRCm39) |
R1163L |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,128,154 (GRCm39) |
Y125C |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,037,960 (GRCm39) |
S1535P |
probably benign |
Het |
| Sumf2 |
A |
G |
5: 129,883,557 (GRCm39) |
E125G |
possibly damaging |
Het |
| Tas2r144 |
A |
T |
6: 42,192,490 (GRCm39) |
I77F |
probably benign |
Het |
| Tcerg1 |
T |
C |
18: 42,657,414 (GRCm39) |
S299P |
unknown |
Het |
| Tcp1 |
T |
A |
17: 13,139,310 (GRCm39) |
N212K |
probably benign |
Het |
| Ttc7 |
G |
T |
17: 87,669,329 (GRCm39) |
G659C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,691,903 (GRCm39) |
|
probably null |
Het |
| Ubtf |
A |
T |
11: 102,199,804 (GRCm39) |
D440E |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,259,207 (GRCm39) |
D428G |
probably damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
G |
A |
7: 41,513,480 (GRCm39) |
H388Y |
probably benign |
Het |
| Zbtb49 |
T |
C |
5: 38,371,038 (GRCm39) |
D281G |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,406,765 (GRCm39) |
S174P |
probably benign |
Het |
| Zswim9 |
T |
C |
7: 13,011,337 (GRCm39) |
T4A |
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 |
|
|
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'- GATGCTGTGCCGCAAACAAGAG -3'
(R):5'- TGTCTTCCACCTGCAAATACAGCC -3'
Sequencing Primer
(F):5'- TTCCTGGAAACTTCCTAGACAGAG -3'
(R):5'- CATGGCAGCTATGTTCATGTGC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation