Incidental Mutation 'R0277:Sptbn2'
| ID |
65333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
038499-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0277 (G1)
|
| Quality Score |
154 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4795173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1544
(I1544F)
|
| 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: I1544F
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: I1544F
| 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 |
0.3244 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 95.0%
- 20x: 89.3%
|
| Validation Efficiency |
99% (111/112) |
| 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: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533L02Rik |
A |
G |
7: 124,917,815 (GRCm39) |
K69R |
unknown |
Het |
| Abca13 |
A |
C |
11: 9,244,701 (GRCm39) |
D2188A |
probably benign |
Het |
| Acad11 |
T |
C |
9: 104,001,224 (GRCm39) |
M708T |
probably damaging |
Het |
| Adam7 |
T |
C |
14: 68,748,306 (GRCm39) |
|
probably null |
Het |
| Adgre1 |
T |
A |
17: 57,751,060 (GRCm39) |
I578N |
probably benign |
Het |
| Agbl4 |
T |
C |
4: 111,474,419 (GRCm39) |
S403P |
probably damaging |
Het |
| Ak3 |
A |
G |
19: 29,025,192 (GRCm39) |
M13T |
possibly damaging |
Het |
| Ap2s1 |
T |
C |
7: 16,481,305 (GRCm39) |
|
probably benign |
Het |
| Arhgef1 |
A |
T |
7: 24,623,224 (GRCm39) |
|
probably benign |
Het |
| Arsk |
T |
C |
13: 76,223,051 (GRCm39) |
N182S |
probably benign |
Het |
| Aspscr1 |
G |
A |
11: 120,569,246 (GRCm39) |
V15I |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,492,487 (GRCm39) |
Y24C |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,701,323 (GRCm39) |
F345S |
possibly damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,362,743 (GRCm39) |
K672E |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 36,997,331 (GRCm39) |
C1129* |
probably null |
Het |
| Bmp2k |
A |
G |
5: 97,235,682 (GRCm39) |
|
probably benign |
Het |
| Casp6 |
T |
A |
3: 129,704,172 (GRCm39) |
V86E |
probably benign |
Het |
| Cdca5 |
A |
G |
19: 6,140,742 (GRCm39) |
E260G |
unknown |
Het |
| Cpb2 |
T |
A |
14: 75,502,898 (GRCm39) |
V159D |
probably damaging |
Het |
| Cylc2 |
T |
A |
4: 51,228,477 (GRCm39) |
S183T |
unknown |
Het |
| Dhtkd1 |
T |
A |
2: 5,919,699 (GRCm39) |
M561L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,129,046 (GRCm39) |
D1823G |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
| Erc1 |
T |
C |
6: 119,597,289 (GRCm39) |
K1003E |
probably damaging |
Het |
| Ezr |
G |
A |
17: 7,022,164 (GRCm39) |
Q105* |
probably null |
Het |
| Fam83d |
T |
A |
2: 158,627,467 (GRCm39) |
D385E |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,178,389 (GRCm39) |
C1950R |
probably damaging |
Het |
| Fbxo32 |
A |
T |
15: 58,047,605 (GRCm39) |
I236N |
probably damaging |
Het |
| Fcgbp |
G |
T |
7: 27,784,918 (GRCm39) |
|
probably null |
Het |
| Foxe3 |
T |
C |
4: 114,782,805 (GRCm39) |
N136D |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,258,837 (GRCm39) |
I461F |
probably damaging |
Het |
| Gldc |
A |
G |
19: 30,093,851 (GRCm39) |
I722T |
possibly damaging |
Het |
| Gm10717 |
T |
G |
9: 3,025,619 (GRCm39) |
V68G |
possibly damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,718 (GRCm39) |
L125S |
possibly damaging |
Het |
| Gnl3 |
A |
C |
14: 30,735,384 (GRCm39) |
|
probably null |
Het |
| Gsto1 |
A |
T |
19: 47,846,416 (GRCm39) |
I88F |
probably damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,945,463 (GRCm39) |
|
probably null |
Het |
| Hhla1 |
C |
A |
15: 65,820,352 (GRCm39) |
V133F |
probably benign |
Het |
| Hipk3 |
T |
A |
2: 104,271,593 (GRCm39) |
L446F |
probably damaging |
Het |
| Hscb |
T |
C |
5: 110,982,556 (GRCm39) |
E177G |
possibly damaging |
Het |
| Hsd17b6 |
T |
C |
10: 127,827,274 (GRCm39) |
D266G |
probably benign |
Het |
| Ipo4 |
T |
C |
14: 55,869,572 (GRCm39) |
S363G |
probably benign |
Het |
| Kcnip3 |
A |
G |
2: 127,301,899 (GRCm39) |
|
probably benign |
Het |
| Klhl41 |
A |
G |
2: 69,501,640 (GRCm39) |
Y367C |
probably damaging |
Het |
| Klk1b4 |
C |
G |
7: 43,861,053 (GRCm39) |
P232R |
possibly damaging |
Het |
| Lcp2 |
A |
G |
11: 34,004,322 (GRCm39) |
D53G |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,741,546 (GRCm39) |
K559E |
probably damaging |
Het |
| Lrrc59 |
A |
C |
11: 94,534,248 (GRCm39) |
T269P |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,677,149 (GRCm39) |
S34P |
possibly damaging |
Het |
| Megf11 |
G |
A |
9: 64,598,632 (GRCm39) |
|
probably null |
Het |
| Mplkip |
A |
G |
13: 17,871,565 (GRCm39) |
I159V |
possibly damaging |
Het |
| Muc4 |
C |
A |
16: 32,755,690 (GRCm38) |
|
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,841,213 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,808,596 (GRCm39) |
|
probably benign |
Het |
| Napg |
C |
T |
18: 63,120,034 (GRCm39) |
R149C |
probably damaging |
Het |
| Ndrg3 |
A |
G |
2: 156,776,855 (GRCm39) |
|
probably benign |
Het |
| Nfe2l3 |
T |
A |
6: 51,434,448 (GRCm39) |
M336K |
probably benign |
Het |
| Nrxn1 |
A |
C |
17: 91,008,170 (GRCm39) |
|
probably null |
Het |
| Nsun3 |
A |
T |
16: 62,597,007 (GRCm39) |
|
probably benign |
Het |
| Nuak1 |
T |
C |
10: 84,210,315 (GRCm39) |
E591G |
probably benign |
Het |
| Or10g1b |
T |
C |
14: 52,627,846 (GRCm39) |
Y128C |
probably damaging |
Het |
| Or10s1 |
G |
A |
9: 39,986,010 (GRCm39) |
V140I |
probably benign |
Het |
| Or1e17 |
A |
T |
11: 73,831,773 (GRCm39) |
I234F |
probably benign |
Het |
| Or4k2 |
T |
C |
14: 50,423,789 (GRCm39) |
N296S |
probably null |
Het |
| Or6c70 |
T |
A |
10: 129,709,936 (GRCm39) |
Q230L |
probably damaging |
Het |
| Or6d15 |
A |
T |
6: 116,559,562 (GRCm39) |
V115E |
probably damaging |
Het |
| Or6z6 |
T |
A |
7: 6,491,433 (GRCm39) |
M147L |
probably benign |
Het |
| Orc4 |
A |
T |
2: 48,827,479 (GRCm39) |
V38E |
possibly damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,887,208 (GRCm39) |
|
probably benign |
Het |
| Palm3 |
T |
A |
8: 84,755,349 (GRCm39) |
V287D |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,751,028 (GRCm39) |
H62L |
probably benign |
Het |
| Pdk4 |
G |
T |
6: 5,491,620 (GRCm39) |
P100Q |
probably damaging |
Het |
| Pdss2 |
T |
A |
10: 43,248,172 (GRCm39) |
H225Q |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,345,762 (GRCm39) |
D2755E |
probably benign |
Het |
| Prune2 |
A |
T |
19: 17,098,753 (GRCm39) |
D1419V |
probably damaging |
Het |
| Pth2r |
A |
C |
1: 65,427,775 (GRCm39) |
I483L |
probably benign |
Het |
| Qrsl1 |
A |
G |
10: 43,772,003 (GRCm39) |
|
probably null |
Het |
| Rab11fip4 |
A |
G |
11: 79,577,455 (GRCm39) |
H403R |
possibly damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,724,023 (GRCm39) |
I1548N |
probably damaging |
Het |
| Ric8a |
T |
G |
7: 140,437,813 (GRCm39) |
|
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,821,897 (GRCm39) |
F44S |
possibly damaging |
Het |
| Serpinc1 |
T |
A |
1: 160,817,272 (GRCm39) |
M1K |
probably null |
Het |
| Sf3b1 |
T |
C |
1: 55,058,416 (GRCm39) |
I58V |
probably damaging |
Het |
| Sh3d19 |
T |
A |
3: 86,033,978 (GRCm39) |
M777K |
probably benign |
Het |
| Sipa1 |
A |
T |
19: 5,704,093 (GRCm39) |
M743K |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,794,818 (GRCm39) |
H255R |
probably benign |
Het |
| Slco6b1 |
A |
T |
1: 96,916,398 (GRCm39) |
|
noncoding transcript |
Het |
| Slfn4 |
A |
T |
11: 83,077,777 (GRCm39) |
R188S |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,231,908 (GRCm39) |
|
probably benign |
Het |
| Spg21 |
A |
T |
9: 65,372,629 (GRCm39) |
K20N |
possibly damaging |
Het |
| Srf |
T |
C |
17: 46,860,415 (GRCm39) |
T456A |
possibly damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,712,715 (GRCm39) |
|
probably benign |
Het |
| Stx2 |
C |
T |
5: 129,065,967 (GRCm39) |
V230I |
probably benign |
Het |
| Sv2b |
A |
T |
7: 74,856,187 (GRCm39) |
D34E |
possibly damaging |
Het |
| Synpo2l |
A |
G |
14: 20,711,856 (GRCm39) |
S255P |
probably damaging |
Het |
| Tbx15 |
C |
T |
3: 99,259,707 (GRCm39) |
P526L |
probably damaging |
Het |
| Tenm4 |
C |
A |
7: 96,344,157 (GRCm39) |
P250Q |
possibly damaging |
Het |
| Tgm1 |
C |
A |
14: 55,948,384 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
T |
C |
14: 55,950,109 (GRCm39) |
|
probably benign |
Het |
| Thsd7b |
A |
G |
1: 130,123,000 (GRCm39) |
I1540V |
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,630,707 (GRCm39) |
K1023E |
probably damaging |
Het |
| Ube2l6 |
A |
T |
2: 84,636,771 (GRCm39) |
|
probably null |
Het |
| Uty |
T |
A |
Y: 1,169,979 (GRCm39) |
I326F |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,805,742 (GRCm39) |
D1735G |
possibly damaging |
Het |
| Wnt11 |
A |
G |
7: 98,496,590 (GRCm39) |
K177E |
probably damaging |
Het |
| Wnt5a |
A |
T |
14: 28,235,225 (GRCm39) |
M70L |
possibly damaging |
Het |
| Wwc1 |
T |
A |
11: 35,743,175 (GRCm39) |
E882V |
probably damaging |
Het |
| Zfp455 |
G |
T |
13: 67,346,728 (GRCm39) |
|
probably null |
Het |
| Zmpste24 |
A |
G |
4: 120,940,050 (GRCm39) |
Y199H |
probably 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 |
|
|
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 |
|
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'- ATCTTGTTGCTTGTAGCCCTAGACTTG -3'
(R):5'- AAACCAGCCATTGCTCTGACTCTC -3'
Sequencing Primer
(F):5'- CCGGAGTCTTGACAAAGAGTC -3'
(R):5'- TGGCCCATCATGTGTAACTC -3'
|
| Posted On |
2013-08-08 |
Incidental Mutation