Incidental Mutation 'R4731:Sptbn2'
| ID |
358903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
042021-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4731 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4792508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 1388
(F1388I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008991]
[ENSMUST00000178353]
|
| AlphaFold |
Q68FG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008991
AA Change: F1388I
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: F1388I
| 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 |
0.2503 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
99% (117/118) |
| 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: 115 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
T |
A |
7: 26,900,468 (GRCm39) |
M149K |
probably damaging |
Het |
| Adamts12 |
A |
T |
15: 11,270,748 (GRCm39) |
S668C |
probably damaging |
Het |
| Adcy8 |
A |
G |
15: 64,626,711 (GRCm39) |
V709A |
possibly damaging |
Het |
| Aim2 |
T |
A |
1: 173,291,442 (GRCm39) |
D282E |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,012,266 (GRCm39) |
S990T |
possibly damaging |
Het |
| Aloxe3 |
A |
T |
11: 69,019,480 (GRCm39) |
D131V |
probably null |
Het |
| Ankrd28 |
A |
C |
14: 31,477,698 (GRCm39) |
C115G |
probably benign |
Het |
| Anxa2 |
A |
T |
9: 69,393,812 (GRCm39) |
M217L |
probably benign |
Het |
| Asah2 |
T |
C |
19: 31,972,758 (GRCm39) |
N659S |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,958,478 (GRCm39) |
D665G |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,361,221 (GRCm39) |
V282E |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdipt |
T |
A |
7: 126,577,530 (GRCm39) |
L92H |
probably damaging |
Het |
| Cep104 |
T |
A |
4: 154,072,883 (GRCm39) |
D380E |
probably damaging |
Het |
| Cfap74 |
T |
A |
4: 155,548,059 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
A |
T |
17: 17,598,079 (GRCm39) |
E55D |
probably benign |
Het |
| Cldnd2 |
T |
A |
7: 43,091,613 (GRCm39) |
C65S |
possibly damaging |
Het |
| Clec9a |
G |
T |
6: 129,393,299 (GRCm39) |
A108S |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,563,467 (GRCm39) |
D215G |
probably benign |
Het |
| Col9a3 |
G |
A |
2: 180,252,474 (GRCm39) |
E373K |
probably damaging |
Het |
| Deptor |
C |
A |
15: 55,044,406 (GRCm39) |
H191N |
probably benign |
Het |
| Dgkz |
A |
T |
2: 91,768,684 (GRCm39) |
I699N |
probably damaging |
Het |
| Dnah7c |
T |
A |
1: 46,809,333 (GRCm39) |
N3550K |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,994,035 (GRCm39) |
K3384R |
probably null |
Het |
| Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,323,056 (GRCm39) |
N521K |
probably benign |
Het |
| Efhb |
G |
A |
17: 53,733,272 (GRCm39) |
T533I |
probably damaging |
Het |
| Ercc4 |
A |
T |
16: 12,965,471 (GRCm39) |
H701L |
probably damaging |
Het |
| Ern1 |
A |
T |
11: 106,325,676 (GRCm39) |
|
probably benign |
Het |
| Etfb |
T |
C |
7: 43,093,624 (GRCm39) |
V17A |
probably damaging |
Het |
| Evc |
T |
A |
5: 37,481,141 (GRCm39) |
M235L |
probably benign |
Het |
| Fbxw22 |
T |
C |
9: 109,207,937 (GRCm39) |
I445V |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,007,081 (GRCm39) |
T764A |
possibly damaging |
Het |
| Fto |
T |
A |
8: 92,136,342 (GRCm39) |
D205E |
probably damaging |
Het |
| Galntl6 |
G |
A |
8: 58,880,847 (GRCm39) |
P147L |
probably damaging |
Het |
| Gm6871 |
T |
C |
7: 41,196,173 (GRCm39) |
I39V |
probably benign |
Het |
| Gpr83 |
A |
G |
9: 14,777,470 (GRCm39) |
|
probably benign |
Het |
| Gucy1a2 |
A |
T |
9: 3,759,424 (GRCm39) |
H410L |
probably benign |
Het |
| Helb |
T |
C |
10: 119,930,193 (GRCm39) |
|
probably null |
Het |
| Ifi214 |
T |
C |
1: 173,354,157 (GRCm39) |
Q171R |
probably benign |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,721 (GRCm39) |
I245M |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,089,279 (GRCm39) |
T492A |
probably damaging |
Het |
| Ighv13-1 |
T |
C |
12: 114,231,252 (GRCm39) |
|
probably benign |
Het |
| Igkv4-50 |
T |
C |
6: 69,677,984 (GRCm39) |
K40R |
probably benign |
Het |
| Igkv8-18 |
T |
A |
6: 70,333,280 (GRCm39) |
I74N |
probably damaging |
Het |
| Iho1 |
A |
G |
9: 108,282,584 (GRCm39) |
V368A |
probably benign |
Het |
| Kbtbd7 |
T |
C |
14: 79,666,240 (GRCm39) |
*691Q |
probably null |
Het |
| Khnyn |
T |
A |
14: 56,123,946 (GRCm39) |
|
probably null |
Het |
| Kif26a |
G |
A |
12: 112,142,007 (GRCm39) |
A754T |
probably benign |
Het |
| Llgl1 |
T |
A |
11: 60,597,051 (GRCm39) |
L194* |
probably null |
Het |
| Map3k12 |
G |
T |
15: 102,409,717 (GRCm39) |
T686N |
probably benign |
Het |
| Myo18a |
C |
A |
11: 77,720,585 (GRCm39) |
P741Q |
probably benign |
Het |
| Ncaph2 |
G |
A |
15: 89,240,030 (GRCm39) |
|
probably benign |
Het |
| Nfkb2 |
A |
G |
19: 46,297,403 (GRCm39) |
Q406R |
possibly damaging |
Het |
| Or10g9b |
A |
T |
9: 39,917,564 (GRCm39) |
I227N |
probably damaging |
Het |
| Or11g2 |
T |
A |
14: 50,856,026 (GRCm39) |
C116S |
probably benign |
Het |
| Or1ad6 |
G |
A |
11: 50,860,093 (GRCm39) |
V83M |
possibly damaging |
Het |
| Or2i1 |
T |
C |
17: 37,507,915 (GRCm39) |
T315A |
probably damaging |
Het |
| Or2n1e |
T |
A |
17: 38,586,438 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or8b12 |
A |
T |
9: 37,657,831 (GRCm39) |
T134S |
probably benign |
Het |
| Ostm1 |
C |
T |
10: 42,554,975 (GRCm39) |
|
probably benign |
Het |
| Pabpc1 |
A |
T |
15: 36,599,528 (GRCm39) |
V389E |
probably benign |
Het |
| Pank4 |
A |
T |
4: 155,055,847 (GRCm39) |
M291L |
probably benign |
Het |
| Pex6 |
A |
G |
17: 47,033,214 (GRCm39) |
D579G |
probably benign |
Het |
| Pex6 |
A |
G |
17: 47,035,633 (GRCm39) |
|
probably null |
Het |
| Phc2 |
C |
T |
4: 128,601,764 (GRCm39) |
T73M |
probably damaging |
Het |
| Pkp4 |
G |
A |
2: 59,165,276 (GRCm39) |
|
probably null |
Het |
| Plekhg1 |
T |
A |
10: 3,907,506 (GRCm39) |
S808T |
probably benign |
Het |
| Plk5 |
A |
T |
10: 80,194,631 (GRCm39) |
H118L |
probably damaging |
Het |
| Pnlip |
T |
C |
19: 58,664,919 (GRCm39) |
I249T |
probably benign |
Het |
| Ptov1 |
T |
C |
7: 44,516,533 (GRCm39) |
D134G |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,155,238 (GRCm39) |
V664A |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,002,609 (GRCm39) |
S1566R |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,445,504 (GRCm39) |
S158P |
probably benign |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
A |
C |
10: 52,018,325 (GRCm39) |
W778G |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,592,795 (GRCm39) |
M4653K |
possibly damaging |
Het |
| Sacm1l |
G |
A |
9: 123,419,895 (GRCm39) |
V553I |
probably benign |
Het |
| Samd4b |
G |
A |
7: 28,106,088 (GRCm39) |
R377W |
probably benign |
Het |
| Selenoo |
A |
G |
15: 88,983,531 (GRCm39) |
Q524R |
probably benign |
Het |
| Slc30a3 |
T |
C |
5: 31,250,638 (GRCm39) |
S22G |
probably benign |
Het |
| Slc35g2 |
A |
C |
9: 100,434,555 (GRCm39) |
V372G |
probably benign |
Het |
| Slc5a8 |
T |
C |
10: 88,761,649 (GRCm39) |
|
probably null |
Het |
| Slc7a7 |
T |
C |
14: 54,646,190 (GRCm39) |
Y91C |
probably damaging |
Het |
| Slc7a9 |
T |
A |
7: 35,152,988 (GRCm39) |
Y135* |
probably null |
Het |
| Slfn1 |
A |
T |
11: 83,012,661 (GRCm39) |
E259V |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,189,690 (GRCm39) |
N156S |
probably damaging |
Het |
| Smim29 |
A |
G |
17: 27,784,244 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,303,133 (GRCm39) |
R485S |
probably benign |
Het |
| Stac2 |
C |
T |
11: 97,930,521 (GRCm39) |
G349E |
probably damaging |
Het |
| Tigd2 |
T |
A |
6: 59,188,400 (GRCm39) |
H422Q |
probably benign |
Het |
| Tle1 |
T |
C |
4: 72,043,256 (GRCm39) |
N538D |
possibly damaging |
Het |
| Tmtc1 |
A |
C |
6: 148,186,478 (GRCm39) |
|
probably null |
Het |
| Tns3 |
C |
T |
11: 8,400,986 (GRCm39) |
R1104H |
probably benign |
Het |
| Tom1l2 |
C |
G |
11: 60,161,259 (GRCm39) |
R84P |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,219,478 (GRCm39) |
F2072L |
probably damaging |
Het |
| Trim6 |
T |
C |
7: 103,881,855 (GRCm39) |
Y369H |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,952,366 (GRCm39) |
S541P |
probably damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,814 (GRCm39) |
D732G |
possibly damaging |
Het |
| Tsc2 |
C |
A |
17: 24,822,249 (GRCm39) |
V1141F |
possibly damaging |
Het |
| Tspoap1 |
T |
A |
11: 87,656,473 (GRCm39) |
V257E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,773,355 (GRCm39) |
M2395K |
unknown |
Het |
| Ubd |
A |
C |
17: 37,506,593 (GRCm39) |
T160P |
probably benign |
Het |
| Ubr7 |
A |
G |
12: 102,735,485 (GRCm39) |
T315A |
probably benign |
Het |
| Ugt2b36 |
G |
T |
5: 87,229,397 (GRCm39) |
Y156* |
probably null |
Het |
| Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
| Urod |
G |
A |
4: 116,848,870 (GRCm39) |
A92V |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,590,382 (GRCm39) |
D2364G |
possibly damaging |
Het |
| Vmn1r87 |
A |
T |
7: 12,866,254 (GRCm39) |
M11K |
possibly damaging |
Het |
| Vstm4 |
A |
G |
14: 32,639,859 (GRCm39) |
K96E |
possibly damaging |
Het |
| Wwp1 |
T |
C |
4: 19,661,990 (GRCm39) |
D172G |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,682,716 (GRCm39) |
Q3385R |
unknown |
Het |
| Zfp229 |
C |
T |
17: 21,964,267 (GRCm39) |
H166Y |
possibly damaging |
Het |
| Zfp738 |
A |
T |
13: 67,818,033 (GRCm39) |
C653S |
probably damaging |
Het |
| Zp2 |
C |
A |
7: 119,737,343 (GRCm39) |
V282L |
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 |
|
|
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 |
|
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'- TCAGCCTGCAACATTCAGTG -3'
(R):5'- GAATTTCAAAAGCTAGGCACCC -3'
Sequencing Primer
(F):5'- CCTGCAACATTCAGTGGAGTCTG -3'
(R):5'- TAGGCACCCTCTTCCACAGG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation