Incidental Mutation 'R0417:Sptbn2'
| ID |
40442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
038619-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0417 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4787954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 978
(T978A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
[ENSMUST00000178353]
|
| AlphaFold |
Q68FG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008991
AA Change: T978A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: T978A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,199,244 (GRCm39) |
K217R |
probably damaging |
Het |
| 1810024B03Rik |
A |
G |
2: 127,028,864 (GRCm39) |
Y112H |
probably damaging |
Het |
| Acot2 |
T |
C |
12: 84,037,387 (GRCm39) |
Y234H |
probably benign |
Het |
| Alox12e |
C |
T |
11: 70,212,691 (GRCm39) |
V53I |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,510,510 (GRCm39) |
H619R |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,479,259 (GRCm39) |
L1452Q |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,180,034 (GRCm39) |
S82G |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,438,957 (GRCm39) |
|
probably benign |
Het |
| Bicra |
C |
A |
7: 15,706,247 (GRCm39) |
R1398L |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,340,597 (GRCm39) |
T118A |
probably benign |
Het |
| Btnl9 |
A |
G |
11: 49,066,422 (GRCm39) |
Y381H |
probably damaging |
Het |
| Cbln3 |
T |
G |
14: 56,121,586 (GRCm39) |
E20A |
probably benign |
Het |
| Cdc42ep5 |
A |
G |
7: 4,154,482 (GRCm39) |
L102P |
probably damaging |
Het |
| Csrnp3 |
A |
G |
2: 65,849,887 (GRCm39) |
Y171C |
probably benign |
Het |
| Cyp2d9 |
A |
T |
15: 82,340,152 (GRCm39) |
I181F |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,150,855 (GRCm39) |
T295S |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Dok1 |
A |
T |
6: 83,008,550 (GRCm39) |
D377E |
probably damaging |
Het |
| Eed |
A |
T |
7: 89,620,760 (GRCm39) |
Y87* |
probably null |
Het |
| Entpd3 |
T |
C |
9: 120,386,487 (GRCm39) |
V156A |
probably damaging |
Het |
| Exo5 |
T |
A |
4: 120,779,269 (GRCm39) |
T199S |
probably damaging |
Het |
| Extl2 |
T |
C |
3: 115,818,006 (GRCm39) |
I106T |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,528,660 (GRCm39) |
C291R |
probably benign |
Het |
| Flvcr1 |
A |
T |
1: 190,743,416 (GRCm39) |
M466K |
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,839,231 (GRCm39) |
M1583I |
probably benign |
Het |
| Fzd9 |
G |
T |
5: 135,278,473 (GRCm39) |
R471S |
probably damaging |
Het |
| Galr1 |
A |
T |
18: 82,423,665 (GRCm39) |
F204Y |
probably damaging |
Het |
| Gna11 |
A |
T |
10: 81,366,738 (GRCm39) |
I324N |
probably damaging |
Het |
| Gucy1a2 |
A |
G |
9: 3,759,484 (GRCm39) |
E430G |
possibly damaging |
Het |
| Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
| Ikzf1 |
A |
C |
11: 11,719,352 (GRCm39) |
N353T |
probably benign |
Het |
| Il7 |
T |
A |
3: 7,641,087 (GRCm39) |
T110S |
probably damaging |
Het |
| Keg1 |
A |
G |
19: 12,688,424 (GRCm39) |
N53D |
probably damaging |
Het |
| Klhl21 |
T |
C |
4: 152,099,964 (GRCm39) |
I558T |
probably damaging |
Het |
| Lca5l |
G |
A |
16: 95,963,853 (GRCm39) |
T357M |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,622,961 (GRCm39) |
S2448P |
probably damaging |
Het |
| Map3k6 |
T |
A |
4: 132,975,393 (GRCm39) |
Y709* |
probably null |
Het |
| Megf6 |
A |
G |
4: 154,352,424 (GRCm39) |
E1261G |
probably benign |
Het |
| Mettl3 |
C |
T |
14: 52,534,155 (GRCm39) |
G473D |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,733,271 (GRCm39) |
I40V |
probably damaging |
Het |
| Mmp13 |
T |
A |
9: 7,276,602 (GRCm39) |
D232E |
probably benign |
Het |
| Nampt |
T |
C |
12: 32,883,100 (GRCm39) |
V95A |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,286,893 (GRCm39) |
V905A |
probably benign |
Het |
| Nomo1 |
A |
T |
7: 45,718,122 (GRCm39) |
E840V |
possibly damaging |
Het |
| Nprl2 |
A |
T |
9: 107,420,497 (GRCm39) |
I101F |
probably damaging |
Het |
| Nup160 |
A |
T |
2: 90,565,771 (GRCm39) |
I1378F |
possibly damaging |
Het |
| Ogdhl |
T |
C |
14: 32,048,936 (GRCm39) |
S69P |
probably damaging |
Het |
| Or2y17 |
T |
A |
11: 49,231,500 (GRCm39) |
I47N |
possibly damaging |
Het |
| Or4a68 |
C |
A |
2: 89,270,519 (GRCm39) |
V35L |
possibly damaging |
Het |
| Or4k77 |
A |
G |
2: 111,199,450 (GRCm39) |
S158G |
possibly damaging |
Het |
| Or5be3 |
A |
T |
2: 86,863,789 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or8b12i |
G |
A |
9: 20,082,510 (GRCm39) |
A119V |
probably damaging |
Het |
| Or8c16 |
A |
G |
9: 38,130,751 (GRCm39) |
I211V |
probably benign |
Het |
| Or8c8 |
T |
C |
9: 38,165,160 (GRCm39) |
F149S |
probably benign |
Het |
| Osbpl3 |
C |
T |
6: 50,324,998 (GRCm39) |
V167I |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,763,036 (GRCm39) |
H3836Q |
unknown |
Het |
| Prkcg |
A |
T |
7: 3,352,820 (GRCm39) |
|
probably null |
Het |
| Ror1 |
A |
T |
4: 100,269,197 (GRCm39) |
H345L |
possibly damaging |
Het |
| Slc36a2 |
C |
T |
11: 55,072,370 (GRCm39) |
|
probably null |
Het |
| Slc40a1 |
G |
A |
1: 45,950,534 (GRCm39) |
P306L |
possibly damaging |
Het |
| Slc9a8 |
C |
A |
2: 167,299,264 (GRCm39) |
T239K |
probably benign |
Het |
| Snapc3 |
A |
G |
4: 83,368,399 (GRCm39) |
I299V |
probably benign |
Het |
| Sp3 |
G |
A |
2: 72,801,845 (GRCm39) |
A56V |
possibly damaging |
Het |
| Spag17 |
T |
A |
3: 99,972,870 (GRCm39) |
S1361T |
probably benign |
Het |
| Stom |
C |
A |
2: 35,211,644 (GRCm39) |
V126F |
probably damaging |
Het |
| Stpg2 |
A |
G |
3: 138,924,082 (GRCm39) |
T162A |
probably damaging |
Het |
| Stxbp6 |
G |
A |
12: 44,949,740 (GRCm39) |
T63M |
probably damaging |
Het |
| Tatdn1 |
A |
C |
15: 58,793,199 (GRCm39) |
I69S |
probably benign |
Het |
| Tbata |
A |
T |
10: 61,016,118 (GRCm39) |
D198V |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,063,733 (GRCm39) |
I638V |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,970,266 (GRCm39) |
D548G |
probably benign |
Het |
| Ust |
A |
G |
10: 8,121,700 (GRCm39) |
F303L |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,703,130 (GRCm39) |
S4306P |
probably benign |
Het |
| Zbed6 |
A |
T |
1: 133,586,276 (GRCm39) |
S354T |
probably benign |
Het |
| Zfp691 |
A |
G |
4: 119,027,693 (GRCm39) |
S180P |
possibly damaging |
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 |
|
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 |
|
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'- GAGCCCTTCACATGAGACCTTTTCC -3'
(R):5'- CTCTTACCTGGCTGCTGAGAACAC -3'
Sequencing Primer
(F):5'- TCCCTACTTACAGGTGGCAG -3'
(R):5'- TGGAAGTCATCCAAGCTGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation