Incidental Mutation 'R8790:Sptbn2'
| ID |
670916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
068634-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8790 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 4782052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 430
(F430L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
|
| AlphaFold |
Q68FG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008991
AA Change: F430L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: F430L
| 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 |
|
| Meta Mutation Damage Score |
0.9138 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (83/83) |
| 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 |
|---|
| 2610008E11Rik |
G |
A |
10: 78,928,285 (GRCm39) |
P68S |
possibly damaging |
Het |
| Abcb5 |
T |
A |
12: 118,831,620 (GRCm39) |
N1244I |
possibly damaging |
Het |
| Abcb9 |
A |
G |
5: 124,215,304 (GRCm39) |
I479T |
probably damaging |
Het |
| Abi3bp |
A |
T |
16: 56,495,437 (GRCm39) |
I920F |
probably damaging |
Het |
| Adcy6 |
T |
A |
15: 98,496,881 (GRCm39) |
T465S |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,290,153 (GRCm39) |
I1760N |
possibly damaging |
Het |
| Aoah |
C |
T |
13: 21,035,840 (GRCm39) |
R140C |
probably benign |
Het |
| Bmp7 |
T |
A |
2: 172,712,060 (GRCm39) |
D388V |
probably benign |
Het |
| Bphl |
C |
T |
13: 34,244,468 (GRCm39) |
A195V |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,857,291 (GRCm39) |
V373A |
probably damaging |
Het |
| Cd79b |
T |
G |
11: 106,202,873 (GRCm39) |
D243A |
possibly damaging |
Het |
| Cdc25a |
T |
A |
9: 109,716,416 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
T |
A |
4: 118,439,111 (GRCm39) |
Q805L |
possibly damaging |
Het |
| Ckap2l |
A |
T |
2: 129,111,172 (GRCm39) |
M675K |
possibly damaging |
Het |
| Cluap1 |
T |
A |
16: 3,735,787 (GRCm39) |
|
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,898,167 (GRCm39) |
|
probably benign |
Het |
| D930020B18Rik |
G |
A |
10: 121,503,568 (GRCm39) |
G248S |
possibly damaging |
Het |
| Ddx1 |
A |
T |
12: 13,273,993 (GRCm39) |
I570N |
probably damaging |
Het |
| Dmkn |
G |
A |
7: 30,463,449 (GRCm39) |
S34N |
probably benign |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,068 (GRCm39) |
D331G |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,018,232 (GRCm39) |
Y1429N |
possibly damaging |
Het |
| Dnajc5b |
T |
A |
3: 19,600,981 (GRCm39) |
L26Q |
probably damaging |
Het |
| Epb41l1 |
T |
G |
2: 156,345,722 (GRCm39) |
F242V |
possibly damaging |
Het |
| Esam |
A |
T |
9: 37,442,927 (GRCm39) |
I72F |
probably benign |
Het |
| Fam110a |
C |
T |
2: 151,812,338 (GRCm39) |
R144H |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,841,024 (GRCm39) |
D1740G |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,854,684 (GRCm39) |
F42L |
possibly damaging |
Het |
| Fras1 |
C |
T |
5: 96,903,236 (GRCm39) |
P3038S |
probably damaging |
Het |
| Gm32742 |
C |
A |
9: 51,059,140 (GRCm39) |
G1035C |
probably damaging |
Het |
| Irf5 |
T |
A |
6: 29,535,026 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
T |
A |
16: 84,606,259 (GRCm39) |
I91K |
possibly damaging |
Het |
| Klhdc3 |
A |
G |
17: 46,991,626 (GRCm39) |
|
probably benign |
Het |
| Lgi1 |
C |
T |
19: 38,289,296 (GRCm39) |
S215F |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,374,946 (GRCm39) |
T4504I |
probably damaging |
Het |
| Mafa |
T |
A |
15: 75,619,224 (GRCm39) |
H183L |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,477,997 (GRCm39) |
V1773A |
probably damaging |
Het |
| Mesp1 |
G |
A |
7: 79,442,825 (GRCm39) |
R151* |
probably null |
Het |
| Mphosph9 |
T |
C |
5: 124,453,736 (GRCm39) |
D192G |
probably damaging |
Het |
| Mthfr |
C |
A |
4: 148,139,991 (GRCm39) |
D678E |
probably benign |
Het |
| Myo15a |
A |
C |
11: 60,367,362 (GRCm39) |
T41P |
possibly damaging |
Het |
| Myo15a |
G |
T |
11: 60,378,047 (GRCm39) |
R185L |
|
Het |
| Myom2 |
T |
G |
8: 15,169,242 (GRCm39) |
L1136W |
probably damaging |
Het |
| Naa30 |
A |
G |
14: 49,418,208 (GRCm39) |
D316G |
probably benign |
Het |
| Ngef |
T |
C |
1: 87,405,319 (GRCm39) |
Q697R |
probably benign |
Het |
| Nin |
T |
C |
12: 70,067,793 (GRCm39) |
R1945G |
|
Het |
| Obox8 |
A |
T |
7: 14,066,908 (GRCm39) |
Y45* |
probably null |
Het |
| Ocln |
C |
T |
13: 100,642,727 (GRCm39) |
V452I |
probably benign |
Het |
| Oog3 |
T |
A |
4: 143,885,710 (GRCm39) |
D296V |
possibly damaging |
Het |
| Or5a1 |
T |
C |
19: 12,097,906 (GRCm39) |
N57D |
probably damaging |
Het |
| Or5h19 |
T |
C |
16: 58,856,580 (GRCm39) |
I173M |
possibly damaging |
Het |
| Or8g4 |
T |
A |
9: 39,662,204 (GRCm39) |
I174K |
probably damaging |
Het |
| Or8k35 |
T |
C |
2: 86,424,278 (GRCm39) |
K298R |
possibly damaging |
Het |
| Papln |
T |
C |
12: 83,823,918 (GRCm39) |
V499A |
probably benign |
Het |
| Paxip1 |
G |
T |
5: 27,977,078 (GRCm39) |
P328Q |
unknown |
Het |
| Pcnx2 |
T |
C |
8: 126,604,306 (GRCm39) |
H650R |
probably benign |
Het |
| Pcnx3 |
A |
T |
19: 5,735,206 (GRCm39) |
V540E |
possibly damaging |
Het |
| Pnpla5 |
C |
T |
15: 84,002,819 (GRCm39) |
G255R |
probably damaging |
Het |
| Ppdpf |
G |
T |
2: 180,829,646 (GRCm39) |
E34* |
probably null |
Het |
| Pum3 |
T |
C |
19: 27,394,199 (GRCm39) |
Y357C |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rasa3 |
A |
T |
8: 13,727,391 (GRCm39) |
|
probably null |
Het |
| Rcor2 |
T |
A |
19: 7,246,340 (GRCm39) |
M5K |
possibly damaging |
Het |
| Rere |
A |
G |
4: 150,593,332 (GRCm39) |
T309A |
unknown |
Het |
| Ryr1 |
A |
T |
7: 28,776,297 (GRCm39) |
I2250N |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,075,341 (GRCm39) |
V130A |
probably benign |
Het |
| Slc26a9 |
T |
A |
1: 131,683,155 (GRCm39) |
S200T |
probably damaging |
Het |
| Slc38a10 |
A |
G |
11: 120,023,519 (GRCm39) |
L299P |
possibly damaging |
Het |
| Smim10l1 |
G |
T |
6: 133,084,848 (GRCm39) |
V72L |
unknown |
Het |
| Svep1 |
T |
A |
4: 58,118,145 (GRCm39) |
Y859F |
possibly damaging |
Het |
| Svil |
C |
A |
18: 5,056,098 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Tgfb1i1 |
A |
T |
7: 127,852,049 (GRCm39) |
D377V |
probably damaging |
Het |
| Tmed10 |
C |
A |
12: 85,390,254 (GRCm39) |
W203L |
probably damaging |
Het |
| Tmem51 |
T |
A |
4: 141,765,056 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tmprss11e |
A |
G |
5: 86,855,259 (GRCm39) |
V382A |
probably benign |
Het |
| Tnfrsf13b |
G |
T |
11: 61,038,350 (GRCm39) |
R211L |
possibly damaging |
Het |
| Tns3 |
A |
G |
11: 8,468,273 (GRCm39) |
V317A |
probably damaging |
Het |
| Top3a |
G |
A |
11: 60,631,363 (GRCm39) |
P1000S |
possibly damaging |
Het |
| Traj32 |
A |
T |
14: 54,423,587 (GRCm39) |
I10F |
|
Het |
| Trav8-1 |
T |
A |
14: 53,707,677 (GRCm39) |
C106S |
probably damaging |
Het |
| Trbv2 |
A |
G |
6: 41,024,655 (GRCm39) |
I24V |
probably benign |
Het |
| Ubap2 |
A |
G |
4: 41,209,351 (GRCm39) |
|
probably null |
Het |
| Vmn2r97 |
T |
A |
17: 19,160,472 (GRCm39) |
C536S |
probably damaging |
Het |
| Zfp879 |
G |
T |
11: 50,723,429 (GRCm39) |
C542* |
probably null |
Het |
| Znfx1 |
C |
T |
2: 166,892,500 (GRCm39) |
|
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 |
|
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 |
|
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'- CACTGAGACTCTTCCATGGATCG -3'
(R):5'- ATCCTGAGTTTCCTGCACGAC -3'
Sequencing Primer
(F):5'- AGACTCTTCCATGGATCGGCTAG -3'
(R):5'- CCTGGATGTGTCTGAAAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation