Incidental Mutation 'R1498:Sptbn2'
| ID |
169092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
039549-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1498 (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 4794274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1493
(F1493L)
|
| 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: F1493L
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: F1493L
| 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 |
|
| Meta Mutation Damage Score |
0.1590 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
97% (83/86) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
G |
11: 100,374,627 (GRCm39) |
S799P |
probably benign |
Het |
| Acvr1b |
T |
C |
15: 101,091,891 (GRCm39) |
F57S |
probably benign |
Het |
| Adamts5 |
T |
A |
16: 85,696,990 (GRCm39) |
T56S |
possibly damaging |
Het |
| Adrb2 |
T |
C |
18: 62,312,004 (GRCm39) |
T274A |
probably damaging |
Het |
| Agr3 |
A |
T |
12: 35,984,379 (GRCm39) |
|
probably null |
Het |
| Ankrd6 |
A |
G |
4: 32,810,289 (GRCm39) |
M405T |
probably benign |
Het |
| Aoc1l2 |
A |
G |
6: 48,908,305 (GRCm39) |
H435R |
probably benign |
Het |
| Aqp5 |
T |
C |
15: 99,491,128 (GRCm39) |
I60T |
probably damaging |
Het |
| Arf5 |
G |
T |
6: 28,426,153 (GRCm39) |
R180L |
probably benign |
Het |
| Asap3 |
A |
G |
4: 135,966,505 (GRCm39) |
N528D |
probably benign |
Het |
| Atmin |
G |
A |
8: 117,681,540 (GRCm39) |
E180K |
probably benign |
Het |
| Bcl11a |
A |
T |
11: 24,114,005 (GRCm39) |
E449D |
probably damaging |
Het |
| Cep128 |
A |
T |
12: 91,333,191 (GRCm39) |
F25I |
probably benign |
Het |
| Cfp |
GCAC |
GC |
X: 20,795,905 (GRCm39) |
|
probably null |
Het |
| Chpt1 |
T |
A |
10: 88,312,966 (GRCm39) |
Y282F |
possibly damaging |
Het |
| Cul7 |
A |
G |
17: 46,966,636 (GRCm39) |
D355G |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,131,227 (GRCm39) |
Y385H |
probably damaging |
Het |
| Dnah2 |
A |
C |
11: 69,411,493 (GRCm39) |
|
probably null |
Het |
| Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 54,943,572 (GRCm39) |
|
probably benign |
Het |
| Erc2 |
T |
A |
14: 28,024,855 (GRCm39) |
M578K |
probably benign |
Het |
| Evc |
T |
A |
5: 37,481,044 (GRCm39) |
H267L |
possibly damaging |
Het |
| Exosc10 |
A |
C |
4: 148,666,243 (GRCm39) |
Q837P |
possibly damaging |
Het |
| Fasn |
G |
A |
11: 120,706,245 (GRCm39) |
T1033I |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,478,521 (GRCm39) |
Y2522* |
probably null |
Het |
| Fbxw8 |
G |
A |
5: 118,203,850 (GRCm39) |
|
probably benign |
Het |
| Fyn |
A |
G |
10: 39,408,120 (GRCm39) |
D321G |
possibly damaging |
Het |
| Grm6 |
G |
A |
11: 50,748,083 (GRCm39) |
V398M |
probably damaging |
Het |
| Gtpbp1 |
T |
A |
15: 79,603,222 (GRCm39) |
|
probably null |
Het |
| Hnf1a |
A |
G |
5: 115,108,596 (GRCm39) |
V103A |
probably damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,662,122 (GRCm39) |
|
probably null |
Het |
| Iqgap2 |
C |
T |
13: 95,783,313 (GRCm39) |
V1288I |
probably benign |
Het |
| Irx5 |
A |
G |
8: 93,086,514 (GRCm39) |
D199G |
probably damaging |
Het |
| Klrh1 |
A |
G |
6: 129,748,703 (GRCm39) |
S105P |
probably damaging |
Het |
| Krt9 |
G |
T |
11: 100,079,195 (GRCm39) |
C732* |
probably null |
Het |
| Lifr |
T |
C |
15: 7,220,099 (GRCm39) |
S910P |
probably damaging |
Het |
| Lrig1 |
G |
A |
6: 94,604,968 (GRCm39) |
A209V |
possibly damaging |
Het |
| Lrrk1 |
T |
A |
7: 65,952,419 (GRCm39) |
R506* |
probably null |
Het |
| Lyst |
T |
A |
13: 13,824,960 (GRCm39) |
I1525K |
possibly damaging |
Het |
| Mad2l1 |
C |
T |
6: 66,516,826 (GRCm39) |
Q173* |
probably null |
Het |
| Mcoln1 |
T |
A |
8: 3,562,861 (GRCm39) |
I524N |
probably damaging |
Het |
| Mmp3 |
A |
T |
9: 7,446,967 (GRCm39) |
D49V |
possibly damaging |
Het |
| Morc3 |
A |
T |
16: 93,650,743 (GRCm39) |
N321I |
probably damaging |
Het |
| Mrpl48 |
T |
C |
7: 100,195,695 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,214,961 (GRCm39) |
D1231E |
probably damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,753,408 (GRCm39) |
I325T |
probably benign |
Het |
| Or1j19 |
A |
T |
2: 36,677,358 (GRCm39) |
I274F |
probably damaging |
Het |
| Or2ag17 |
T |
C |
7: 106,389,623 (GRCm39) |
Y195C |
possibly damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,938 (GRCm39) |
M36K |
probably benign |
Het |
| Or8c16 |
C |
G |
9: 38,130,676 (GRCm39) |
P183A |
probably damaging |
Het |
| Or8k32 |
A |
G |
2: 86,368,902 (GRCm39) |
V117A |
probably benign |
Het |
| Parvg |
T |
A |
15: 84,218,832 (GRCm39) |
S230T |
possibly damaging |
Het |
| Pcca |
T |
C |
14: 122,854,230 (GRCm39) |
I118T |
probably damaging |
Het |
| Pde6a |
A |
G |
18: 61,365,932 (GRCm39) |
N219S |
possibly damaging |
Het |
| Phldb1 |
G |
T |
9: 44,612,915 (GRCm39) |
P935Q |
possibly damaging |
Het |
| Plppr5 |
T |
C |
3: 117,456,261 (GRCm39) |
S261P |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,922,629 (GRCm39) |
N260S |
probably benign |
Het |
| Ppp1r3e |
A |
T |
14: 55,113,882 (GRCm39) |
H263Q |
probably benign |
Het |
| Ppp3cb |
T |
C |
14: 20,559,567 (GRCm39) |
|
probably null |
Het |
| Ppt2 |
A |
T |
17: 34,842,075 (GRCm39) |
D185E |
probably benign |
Het |
| Prr27 |
A |
T |
5: 87,998,600 (GRCm39) |
|
probably benign |
Het |
| Ptcd3 |
A |
T |
6: 71,870,479 (GRCm39) |
V327E |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rtp1 |
A |
T |
16: 23,249,970 (GRCm39) |
M112L |
probably benign |
Het |
| Slc22a5 |
A |
T |
11: 53,760,140 (GRCm39) |
L392Q |
probably damaging |
Het |
| Slc6a7 |
A |
G |
18: 61,129,764 (GRCm39) |
I614T |
probably benign |
Het |
| Slu7 |
C |
A |
11: 43,329,044 (GRCm39) |
P89T |
possibly damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,318,061 (GRCm39) |
V618A |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,952,369 (GRCm39) |
R729Q |
probably damaging |
Het |
| Sulf1 |
C |
T |
1: 12,918,574 (GRCm39) |
T66I |
probably damaging |
Het |
| Tgtp2 |
A |
G |
11: 48,950,165 (GRCm39) |
Y136H |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,536,242 (GRCm39) |
F92S |
probably damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,730,934 (GRCm39) |
V820E |
probably benign |
Het |
| Tpcn2 |
A |
G |
7: 144,822,648 (GRCm39) |
Y266H |
probably damaging |
Het |
| Trat1 |
A |
G |
16: 48,555,304 (GRCm39) |
S143P |
probably benign |
Het |
| Vmn1r49 |
T |
A |
6: 90,049,298 (GRCm39) |
R235W |
probably damaging |
Het |
| Vmn1r71 |
A |
T |
7: 10,482,575 (GRCm39) |
C38S |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,890 (GRCm39) |
T315S |
probably damaging |
Het |
| Wdr36 |
A |
G |
18: 32,986,021 (GRCm39) |
D575G |
possibly damaging |
Het |
| Zfp292 |
G |
T |
4: 34,805,397 (GRCm39) |
A2549E |
possibly damaging |
Het |
| Zfp354a |
A |
T |
11: 50,961,073 (GRCm39) |
H426L |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp648 |
T |
A |
1: 154,081,119 (GRCm39) |
I426N |
probably damaging |
Het |
| Zfp87 |
T |
C |
13: 74,520,736 (GRCm39) |
N114S |
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 |
|
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'- AACTACCCAGACCGTAAGAGGCTG -3'
(R):5'- CAAGTCCTTGCCATGTTCCAGAGAG -3'
Sequencing Primer
(F):5'- AGACCGTAAGAGGCTGTTTTTCC -3'
(R):5'- CGCAGAGAGGAGCTGTCTAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation