Incidental Mutation 'R4965:Sptbn2'
| ID |
383975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4965 (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 4779337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 298
(D298G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
|
| AlphaFold |
Q68FG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008991
AA Change: D298G
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: D298G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.1%
|
| 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: 117 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,775,433 (GRCm39) |
T1541A |
probably benign |
Het |
| 9530002B09Rik |
T |
C |
4: 122,594,285 (GRCm39) |
M59T |
probably benign |
Het |
| Adam18 |
C |
T |
8: 25,131,827 (GRCm39) |
C428Y |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,098,872 (GRCm39) |
E700G |
possibly damaging |
Het |
| Adprh |
G |
T |
16: 38,266,142 (GRCm39) |
Y333* |
probably null |
Het |
| Agfg2 |
C |
A |
5: 137,665,439 (GRCm39) |
|
probably null |
Het |
| Akip1 |
A |
T |
7: 109,310,961 (GRCm39) |
E167V |
probably damaging |
Het |
| Akr1c21 |
A |
T |
13: 4,630,304 (GRCm39) |
Q199L |
probably damaging |
Het |
| Aldh9a1 |
C |
A |
1: 167,193,358 (GRCm39) |
A455E |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,321,869 (GRCm39) |
S520N |
probably benign |
Het |
| Ankrd52 |
A |
G |
10: 128,226,376 (GRCm39) |
D1006G |
probably benign |
Het |
| Ap5z1 |
A |
C |
5: 142,453,431 (GRCm39) |
Q133P |
probably damaging |
Het |
| Babam1 |
C |
T |
8: 71,857,032 (GRCm39) |
A331V |
possibly damaging |
Het |
| Btc |
T |
C |
5: 91,510,160 (GRCm39) |
|
probably null |
Het |
| Cacna2d3 |
A |
G |
14: 28,704,289 (GRCm39) |
F831L |
probably benign |
Het |
| Cadm3 |
G |
A |
1: 173,164,664 (GRCm39) |
P372L |
probably damaging |
Het |
| Capn5 |
A |
T |
7: 97,775,624 (GRCm39) |
M439K |
probably damaging |
Het |
| Carf |
T |
C |
1: 60,189,796 (GRCm39) |
S639P |
probably damaging |
Het |
| Casp12 |
C |
T |
9: 5,352,250 (GRCm39) |
R81C |
probably benign |
Het |
| Ces2e |
G |
T |
8: 105,660,330 (GRCm39) |
R555M |
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,902,661 (GRCm39) |
I164F |
probably benign |
Het |
| Cltc |
C |
T |
11: 86,598,327 (GRCm39) |
V1012I |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,232,295 (GRCm39) |
T931I |
possibly damaging |
Het |
| Cntn6 |
A |
G |
6: 104,751,435 (GRCm39) |
I364V |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,068,251 (GRCm39) |
I59F |
possibly damaging |
Het |
| Cop1 |
T |
C |
1: 159,067,167 (GRCm39) |
M80T |
probably damaging |
Het |
| Cplx2 |
A |
G |
13: 54,527,460 (GRCm39) |
S115G |
possibly damaging |
Het |
| Crtac1 |
A |
G |
19: 42,307,179 (GRCm39) |
Y195H |
probably damaging |
Het |
| Csn1s2a |
A |
C |
5: 87,929,697 (GRCm39) |
S99R |
possibly damaging |
Het |
| Csn1s2b |
T |
A |
5: 87,961,820 (GRCm39) |
D41E |
possibly damaging |
Het |
| Cul9 |
C |
T |
17: 46,849,451 (GRCm39) |
D565N |
probably damaging |
Het |
| Cux1 |
A |
T |
5: 136,340,410 (GRCm39) |
N625K |
possibly damaging |
Het |
| Cyp2c37 |
A |
T |
19: 40,000,206 (GRCm39) |
M443L |
possibly damaging |
Het |
| Cyp2s1 |
G |
A |
7: 25,508,710 (GRCm39) |
T244I |
possibly damaging |
Het |
| Dgkh |
C |
T |
14: 78,861,861 (GRCm39) |
V135M |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,278,677 (GRCm39) |
E395G |
possibly damaging |
Het |
| Dyrk1a |
G |
T |
16: 94,492,854 (GRCm39) |
G658* |
probably null |
Het |
| Erlin2 |
T |
C |
8: 27,519,623 (GRCm39) |
F117S |
probably damaging |
Het |
| Fkbp8 |
A |
G |
8: 70,984,173 (GRCm39) |
|
probably null |
Het |
| Fras1 |
T |
C |
5: 96,874,439 (GRCm39) |
F2288S |
possibly damaging |
Het |
| Frmd3 |
A |
G |
4: 74,071,837 (GRCm39) |
T240A |
probably damaging |
Het |
| H2-D1 |
A |
G |
17: 35,482,881 (GRCm39) |
Y137C |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,882,709 (GRCm39) |
V28A |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,124,727 (GRCm39) |
I579V |
probably benign |
Het |
| Il6 |
A |
T |
5: 30,218,491 (GRCm39) |
Y29F |
possibly damaging |
Het |
| Ildr2 |
A |
G |
1: 166,135,409 (GRCm39) |
D368G |
probably damaging |
Het |
| Junb |
T |
A |
8: 85,704,788 (GRCm39) |
I91F |
probably damaging |
Het |
| Kat2a |
C |
A |
11: 100,603,029 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
A |
T |
11: 100,603,030 (GRCm39) |
|
probably benign |
Het |
| Kcnh5 |
T |
A |
12: 75,011,925 (GRCm39) |
T665S |
probably benign |
Het |
| Kdm1b |
A |
T |
13: 47,227,843 (GRCm39) |
D608V |
probably damaging |
Het |
| Krcc1 |
A |
G |
6: 71,261,621 (GRCm39) |
K218E |
probably damaging |
Het |
| Krt8 |
C |
T |
15: 101,905,386 (GRCm39) |
V488M |
probably benign |
Het |
| Lzts1 |
C |
T |
8: 69,591,414 (GRCm39) |
A245T |
probably benign |
Het |
| Mcm6 |
T |
A |
1: 128,287,223 (GRCm39) |
Q27L |
probably damaging |
Het |
| Mfsd4b3-ps |
G |
T |
10: 39,823,686 (GRCm39) |
Y191* |
probably null |
Het |
| Mgme1 |
C |
T |
2: 144,118,324 (GRCm39) |
Q199* |
probably null |
Het |
| Mgme1 |
T |
C |
2: 144,121,540 (GRCm39) |
L332P |
probably benign |
Het |
| Morc3 |
G |
T |
16: 93,657,475 (GRCm39) |
E25* |
probably null |
Het |
| Mroh7 |
G |
A |
4: 106,548,184 (GRCm39) |
A1098V |
possibly damaging |
Het |
| Mtrf1 |
G |
A |
14: 79,644,027 (GRCm39) |
R174H |
probably benign |
Het |
| Mybpc3 |
G |
A |
2: 90,949,592 (GRCm39) |
G45D |
possibly damaging |
Het |
| Mycbpap |
A |
T |
11: 94,395,764 (GRCm39) |
N733K |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,578,314 (GRCm39) |
I684V |
possibly damaging |
Het |
| Nav2 |
A |
T |
7: 49,202,625 (GRCm39) |
R1470* |
probably null |
Het |
| Ndufa9 |
A |
T |
6: 126,799,026 (GRCm39) |
S364T |
probably benign |
Het |
| Nipal4 |
C |
A |
11: 46,052,837 (GRCm39) |
A43S |
possibly damaging |
Het |
| Nlrp1a |
T |
A |
11: 70,983,141 (GRCm39) |
Y1275F |
possibly damaging |
Het |
| Nova1 |
A |
T |
12: 46,767,618 (GRCm39) |
L8* |
probably null |
Het |
| Odam |
G |
T |
5: 88,037,967 (GRCm39) |
G181* |
probably null |
Het |
| Optn |
T |
A |
2: 5,026,190 (GRCm39) |
Q576L |
probably benign |
Het |
| Or2c1 |
T |
C |
16: 3,657,434 (GRCm39) |
L199P |
probably damaging |
Het |
| Or4k47 |
T |
C |
2: 111,451,879 (GRCm39) |
D180G |
probably damaging |
Het |
| Or4l1 |
C |
T |
14: 50,166,354 (GRCm39) |
V216I |
probably benign |
Het |
| Or51a39 |
A |
T |
7: 102,362,702 (GRCm39) |
I306N |
probably damaging |
Het |
| Or5as1 |
T |
A |
2: 86,981,003 (GRCm39) |
M1L |
possibly damaging |
Het |
| Or5h18 |
A |
T |
16: 58,847,696 (GRCm39) |
D191E |
probably damaging |
Het |
| Or8s2 |
T |
C |
15: 98,277,030 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
G |
T |
2: 121,959,329 (GRCm39) |
S45* |
probably null |
Het |
| Pde2a |
G |
A |
7: 101,152,140 (GRCm39) |
G349E |
probably benign |
Het |
| Pdlim2 |
T |
A |
14: 70,405,464 (GRCm39) |
|
probably benign |
Het |
| Per1 |
T |
C |
11: 68,995,227 (GRCm39) |
V653A |
probably benign |
Het |
| Phlda2 |
A |
G |
7: 143,056,005 (GRCm39) |
S75P |
probably damaging |
Het |
| Poldip3 |
A |
T |
15: 83,021,706 (GRCm39) |
M167K |
possibly damaging |
Het |
| Potegl |
C |
A |
2: 23,135,127 (GRCm39) |
T312K |
probably benign |
Het |
| Prpf38a |
T |
C |
4: 108,436,278 (GRCm39) |
I12V |
probably benign |
Het |
| Prrc1 |
G |
A |
18: 57,507,622 (GRCm39) |
V259I |
possibly damaging |
Het |
| Ptges3l |
A |
T |
11: 101,315,448 (GRCm39) |
M1K |
probably null |
Het |
| Rdh5 |
A |
G |
10: 128,749,653 (GRCm39) |
Y296H |
probably damaging |
Het |
| Resf1 |
G |
T |
6: 149,229,896 (GRCm39) |
G981* |
probably null |
Het |
| Rnf2 |
T |
A |
1: 151,348,968 (GRCm39) |
K51* |
probably null |
Het |
| Rpusd3 |
C |
A |
6: 113,393,809 (GRCm39) |
R215L |
probably benign |
Het |
| Rsph4a |
A |
T |
10: 33,785,236 (GRCm39) |
E382D |
probably damaging |
Het |
| S1pr2 |
G |
A |
9: 20,879,745 (GRCm39) |
Q28* |
probably null |
Het |
| Sesn1 |
A |
T |
10: 41,771,005 (GRCm39) |
I179F |
probably damaging |
Het |
| Setd3 |
T |
A |
12: 108,079,630 (GRCm39) |
E291V |
probably benign |
Het |
| Shc1 |
G |
T |
3: 89,334,303 (GRCm39) |
R323L |
probably damaging |
Het |
| Slc22a5 |
T |
C |
11: 53,782,352 (GRCm39) |
D5G |
possibly damaging |
Het |
| Slc6a19 |
T |
C |
13: 73,848,677 (GRCm39) |
K26E |
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,312,412 (GRCm39) |
N670D |
possibly damaging |
Het |
| Spata19 |
A |
T |
9: 27,311,761 (GRCm39) |
I127L |
probably benign |
Het |
| Speg |
G |
T |
1: 75,404,347 (GRCm39) |
V2751L |
probably damaging |
Het |
| Srm |
T |
C |
4: 148,678,640 (GRCm39) |
V289A |
possibly damaging |
Het |
| Stip1 |
C |
T |
19: 7,012,938 (GRCm39) |
A49T |
probably benign |
Het |
| Tas2r118 |
C |
A |
6: 23,969,627 (GRCm39) |
V145F |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,854,169 (GRCm39) |
K284* |
probably null |
Het |
| Tfcp2 |
T |
C |
15: 100,423,531 (GRCm39) |
H125R |
probably damaging |
Het |
| Tfdp1 |
T |
C |
8: 13,423,073 (GRCm39) |
V206A |
probably damaging |
Het |
| Tgtp2 |
A |
G |
11: 48,950,237 (GRCm39) |
W112R |
probably damaging |
Het |
| Tmem71 |
T |
G |
15: 66,410,710 (GRCm39) |
M221L |
probably benign |
Het |
| Tpcn1 |
T |
C |
5: 120,685,552 (GRCm39) |
N436S |
possibly damaging |
Het |
| Usp4 |
C |
T |
9: 108,239,819 (GRCm39) |
L183F |
probably damaging |
Het |
| Vmn2r55 |
A |
T |
7: 12,404,478 (GRCm39) |
N308K |
possibly damaging |
Het |
| Zfp106 |
T |
A |
2: 120,364,400 (GRCm39) |
D669V |
probably damaging |
Het |
| Zfp108 |
A |
T |
7: 23,959,573 (GRCm39) |
I55L |
probably benign |
Het |
| Zfp512b |
A |
T |
2: 181,228,131 (GRCm39) |
S8R |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,787,910 (GRCm39) |
S359P |
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 |
|
|
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 |
|
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'- AGAAGTCTATCATCACCTACGTGG -3'
(R):5'- ACCTACTTGGGTGGCTTCTC -3'
Sequencing Primer
(F):5'- TTCTCCAAGATGAAGGCCCTG -3'
(R):5'- TTCTCCACAGTGCGATAGGAG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation