Incidental Mutation 'R7502:Sptbn2'
| ID |
581589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn2
|
| Ensembl Gene |
ENSMUSG00000067889 |
| Gene Name |
spectrin beta, non-erythrocytic 2 |
| Synonyms |
Spnb3 |
| MMRRC Submission |
045575-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7502 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4761195-4802388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4798110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1945
(V1945A)
|
| 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: V1945A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: V1945A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,743,951 (GRCm39) |
T661A |
probably damaging |
Het |
| Actrt2 |
T |
C |
4: 154,751,383 (GRCm39) |
Y251C |
probably benign |
Het |
| Adat3 |
T |
A |
10: 80,442,255 (GRCm39) |
V31D |
probably damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,980,548 (GRCm39) |
H179R |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,578,513 (GRCm39) |
Y241* |
probably null |
Het |
| Anks1 |
C |
A |
17: 28,227,114 (GRCm39) |
T589K |
possibly damaging |
Het |
| Arhgap15 |
A |
G |
2: 43,670,630 (GRCm39) |
T5A |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,344,734 (GRCm39) |
M1130K |
probably null |
Het |
| Ccdc121rt1 |
G |
A |
1: 181,338,443 (GRCm39) |
Q170* |
probably null |
Het |
| Ceacam18 |
A |
T |
7: 43,286,298 (GRCm39) |
D57V |
probably damaging |
Het |
| Celf1 |
C |
T |
2: 90,835,100 (GRCm39) |
Q194* |
probably null |
Het |
| Celsr2 |
T |
A |
3: 108,306,218 (GRCm39) |
T2029S |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,583,595 (GRCm39) |
D163G |
probably damaging |
Het |
| Cfap210 |
A |
T |
2: 69,606,488 (GRCm39) |
D309E |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,214,295 (GRCm39) |
F157S |
probably damaging |
Het |
| Chchd3 |
T |
C |
6: 32,945,164 (GRCm39) |
E114G |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 46,460,963 (GRCm39) |
S666R |
possibly damaging |
Het |
| Col6a5 |
C |
T |
9: 105,753,075 (GRCm39) |
V2266I |
probably benign |
Het |
| Ctr9 |
A |
G |
7: 110,633,133 (GRCm39) |
D127G |
probably benign |
Het |
| Ctsl |
A |
T |
13: 64,514,882 (GRCm39) |
F141I |
probably damaging |
Het |
| Dcpp1 |
T |
A |
17: 24,101,615 (GRCm39) |
Y121* |
probably null |
Het |
| Ddx42 |
T |
C |
11: 106,138,565 (GRCm39) |
V788A |
probably benign |
Het |
| Ehd4 |
T |
C |
2: 119,921,874 (GRCm39) |
I461V |
probably benign |
Het |
| Elp6 |
C |
A |
9: 110,134,376 (GRCm39) |
L5I |
possibly damaging |
Het |
| Faap20 |
T |
C |
4: 155,334,793 (GRCm39) |
S2P |
|
Het |
| Fam98b |
A |
C |
2: 117,094,344 (GRCm39) |
Y218S |
probably damaging |
Het |
| Fbxl4 |
T |
A |
4: 22,376,655 (GRCm39) |
D30E |
probably benign |
Het |
| Fcrlb |
T |
C |
1: 170,736,210 (GRCm39) |
T189A |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,043,671 (GRCm39) |
D302G |
probably benign |
Het |
| Gzmg |
T |
G |
14: 56,394,284 (GRCm39) |
E203D |
not run |
Het |
| Hsph1 |
A |
C |
5: 149,553,838 (GRCm39) |
V210G |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,350,479 (GRCm39) |
M138K |
probably damaging |
Het |
| Itpr1 |
A |
T |
6: 108,360,639 (GRCm39) |
E688D |
probably benign |
Het |
| Jmjd1c |
T |
G |
10: 67,067,794 (GRCm39) |
S1585A |
probably damaging |
Het |
| Kcnk3 |
A |
T |
5: 30,780,062 (GRCm39) |
T371S |
possibly damaging |
Het |
| Kif11 |
T |
A |
19: 37,398,255 (GRCm39) |
S694T |
possibly damaging |
Het |
| Kpna7 |
T |
A |
5: 144,942,731 (GRCm39) |
H85L |
probably benign |
Het |
| Lipf |
A |
T |
19: 33,954,006 (GRCm39) |
I366F |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,794,748 (GRCm39) |
H37R |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,302,512 (GRCm39) |
T841A |
possibly damaging |
Het |
| Mtss1 |
A |
G |
15: 58,820,210 (GRCm39) |
S120P |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,397,404 (GRCm39) |
W922R |
probably damaging |
Het |
| Nwd1 |
A |
G |
8: 73,434,021 (GRCm39) |
E1206G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,885,635 (GRCm39) |
S7933G |
unknown |
Het |
| Or13j1 |
T |
C |
4: 43,706,316 (GRCm39) |
H84R |
probably damaging |
Het |
| Or1p4-ps1 |
T |
C |
11: 74,208,010 (GRCm39) |
V53A |
probably benign |
Het |
| Or2g25 |
T |
A |
17: 37,971,122 (GRCm39) |
Y34F |
probably damaging |
Het |
| Or2k2 |
T |
C |
4: 58,785,648 (GRCm39) |
I25V |
probably benign |
Het |
| Or4c52 |
T |
C |
2: 89,845,355 (GRCm39) |
L27S |
probably benign |
Het |
| Otog |
A |
T |
7: 45,948,039 (GRCm39) |
I162F |
probably damaging |
Het |
| Paf1 |
G |
A |
7: 28,095,293 (GRCm39) |
V153I |
possibly damaging |
Het |
| Pcdhga11 |
T |
A |
18: 37,889,554 (GRCm39) |
D187E |
probably benign |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pitrm1 |
G |
T |
13: 6,610,658 (GRCm39) |
R424L |
probably damaging |
Het |
| Pla2g4e |
T |
A |
2: 120,004,819 (GRCm39) |
|
probably null |
Het |
| Plaat1 |
T |
C |
16: 29,046,919 (GRCm39) |
V146A |
probably benign |
Het |
| Prorp |
T |
C |
12: 55,351,206 (GRCm39) |
Y172H |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,381,286 (GRCm39) |
N61S |
unknown |
Het |
| Ror1 |
T |
A |
4: 100,190,827 (GRCm39) |
D61E |
probably benign |
Het |
| Ryr3 |
G |
A |
2: 112,542,706 (GRCm39) |
P3168S |
probably benign |
Het |
| Serinc4 |
T |
A |
2: 121,284,250 (GRCm39) |
I289F |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,623,347 (GRCm39) |
L68H |
possibly damaging |
Het |
| Sez6l2 |
A |
G |
7: 126,560,915 (GRCm39) |
E460G |
probably benign |
Het |
| Sh3tc1 |
C |
T |
5: 35,863,406 (GRCm39) |
G927D |
probably damaging |
Het |
| Slc22a27 |
G |
C |
19: 7,903,747 (GRCm39) |
T130S |
probably damaging |
Het |
| Slc38a8 |
C |
A |
8: 120,227,820 (GRCm39) |
A37S |
possibly damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,958,134 (GRCm39) |
N100D |
probably damaging |
Het |
| Slc49a3 |
G |
A |
5: 108,591,646 (GRCm39) |
|
probably null |
Het |
| Snx30 |
T |
C |
4: 59,894,567 (GRCm39) |
F382L |
possibly damaging |
Het |
| Sox1 |
A |
G |
8: 12,446,913 (GRCm39) |
N185D |
possibly damaging |
Het |
| Spsb1 |
C |
T |
4: 149,991,385 (GRCm39) |
R61H |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,898,194 (GRCm39) |
N665K |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,283,446 (GRCm39) |
S1540P |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 76,141,100 (GRCm39) |
V1331M |
probably damaging |
Het |
| Tfap2c |
T |
C |
2: 172,393,639 (GRCm39) |
S185P |
probably benign |
Het |
| Tnfsf8 |
T |
A |
4: 63,769,398 (GRCm39) |
D71V |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,937,929 (GRCm39) |
D1196G |
probably benign |
Het |
| Ttll8 |
A |
G |
15: 88,817,639 (GRCm39) |
|
probably null |
Het |
| Tubgcp3 |
A |
G |
8: 12,691,207 (GRCm39) |
F444L |
probably damaging |
Het |
| Txndc11 |
G |
A |
16: 10,905,742 (GRCm39) |
P596L |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,139,983 (GRCm39) |
P1189S |
possibly damaging |
Het |
| Usp32 |
T |
C |
11: 84,913,724 (GRCm39) |
D869G |
possibly damaging |
Het |
| Vmn1r202 |
G |
T |
13: 22,686,188 (GRCm39) |
N76K |
probably damaging |
Het |
| Wfdc6a |
C |
T |
2: 164,421,761 (GRCm39) |
M132I |
probably benign |
Het |
| Wnk2 |
A |
T |
13: 49,300,720 (GRCm39) |
|
probably null |
Het |
| Xbp1 |
A |
G |
11: 5,474,683 (GRCm39) |
|
probably null |
Het |
| Zfp551 |
A |
T |
7: 12,149,725 (GRCm39) |
Y561* |
probably null |
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 |
|
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'- TTACTGGATACCACGGACAAATTC -3'
(R):5'- CAGAAATTACAGGCATGGGC -3'
Sequencing Primer
(F):5'- CCGATTCTTTAAGGCTGTCCGAG -3'
(R):5'- CCCTGTTAGGTGCATCTAGCCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation