Incidental Mutation 'R0415:Sptbn1'
| ID |
40258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn1
|
| Ensembl Gene |
ENSMUSG00000020315 |
| Gene Name |
spectrin beta, non-erythrocytic 1 |
| Synonyms |
non-erythrocytic, Spnb-2, elf3, 9930031C03Rik, elf1, beta fodrin, brain spectrin, spectrin G, Spnb2 |
| MMRRC Submission |
038617-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0415 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
30099395-30268175 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 30149576 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 229
(N229K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006629]
[ENSMUST00000011877]
[ENSMUST00000102838]
[ENSMUST00000124231]
|
| AlphaFold |
Q62261 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006629
AA Change: N229K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006629
Gene: ENSMUSG00000020315
AA Change: N229K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
|
CH
|
56 |
156 |
3.02e-28 |
SMART |
|
CH
|
175 |
273 |
8.73e-25 |
SMART |
|
SPEC
|
305 |
411 |
2.03e0 |
SMART |
|
SPEC
|
425 |
525 |
6.42e-26 |
SMART |
|
SPEC
|
531 |
635 |
4.61e-27 |
SMART |
|
SPEC
|
641 |
741 |
2.36e-33 |
SMART |
|
SPEC
|
747 |
846 |
1.2e-25 |
SMART |
|
SPEC
|
852 |
952 |
7.16e-24 |
SMART |
|
SPEC
|
958 |
1059 |
6.58e-23 |
SMART |
|
SPEC
|
1065 |
1166 |
1.79e-24 |
SMART |
|
SPEC
|
1172 |
1272 |
2.2e-24 |
SMART |
|
SPEC
|
1278 |
1377 |
5.18e-21 |
SMART |
|
SPEC
|
1383 |
1482 |
1.02e-19 |
SMART |
|
SPEC
|
1488 |
1589 |
7.2e-29 |
SMART |
|
SPEC
|
1595 |
1695 |
8.03e-27 |
SMART |
|
SPEC
|
1701 |
1802 |
9.73e-26 |
SMART |
|
SPEC
|
1808 |
1908 |
9.82e-22 |
SMART |
|
SPEC
|
1914 |
2014 |
8.68e-23 |
SMART |
|
SPEC
|
2020 |
2162 |
3.1e-10 |
SMART |
|
PH
|
2197 |
2308 |
1.64e-18 |
SMART |
|
low complexity region
|
2312 |
2327 |
N/A |
INTRINSIC |
|
low complexity region
|
2343 |
2355 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000011877
AA Change: N229K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000011877
Gene: ENSMUSG00000020315
AA Change: N229K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
|
CH
|
56 |
156 |
3.02e-28 |
SMART |
|
CH
|
175 |
273 |
8.73e-25 |
SMART |
|
SPEC
|
305 |
411 |
2.03e0 |
SMART |
|
SPEC
|
425 |
525 |
6.42e-26 |
SMART |
|
SPEC
|
531 |
635 |
4.61e-27 |
SMART |
|
SPEC
|
641 |
741 |
2.36e-33 |
SMART |
|
SPEC
|
747 |
846 |
1.2e-25 |
SMART |
|
SPEC
|
852 |
952 |
7.16e-24 |
SMART |
|
SPEC
|
958 |
1059 |
6.58e-23 |
SMART |
|
SPEC
|
1065 |
1166 |
1.79e-24 |
SMART |
|
SPEC
|
1172 |
1272 |
2.2e-24 |
SMART |
|
SPEC
|
1278 |
1377 |
5.18e-21 |
SMART |
|
SPEC
|
1383 |
1482 |
1.02e-19 |
SMART |
|
SPEC
|
1488 |
1589 |
7.2e-29 |
SMART |
|
SPEC
|
1595 |
1695 |
8.03e-27 |
SMART |
|
SPEC
|
1701 |
1802 |
9.73e-26 |
SMART |
|
SPEC
|
1808 |
1908 |
9.82e-22 |
SMART |
|
SPEC
|
1914 |
2014 |
8.68e-23 |
SMART |
|
SPEC
|
2020 |
2162 |
3.1e-10 |
SMART |
|
PH
|
2197 |
2308 |
1.64e-18 |
SMART |
|
low complexity region
|
2312 |
2327 |
N/A |
INTRINSIC |
|
low complexity region
|
2343 |
2355 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102838
AA Change: N216K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099902
Gene: ENSMUSG00000020315
AA Change: N216K
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
43 |
143 |
3.02e-28 |
SMART |
|
CH
|
162 |
260 |
8.73e-25 |
SMART |
|
SPEC
|
292 |
398 |
2.03e0 |
SMART |
|
SPEC
|
412 |
512 |
6.42e-26 |
SMART |
|
SPEC
|
518 |
622 |
4.61e-27 |
SMART |
|
SPEC
|
628 |
728 |
2.36e-33 |
SMART |
|
SPEC
|
734 |
833 |
1.2e-25 |
SMART |
|
SPEC
|
839 |
939 |
7.16e-24 |
SMART |
|
SPEC
|
945 |
1046 |
6.58e-23 |
SMART |
|
SPEC
|
1052 |
1153 |
1.79e-24 |
SMART |
|
SPEC
|
1159 |
1259 |
2.2e-24 |
SMART |
|
SPEC
|
1265 |
1364 |
5.18e-21 |
SMART |
|
SPEC
|
1370 |
1469 |
1.02e-19 |
SMART |
|
SPEC
|
1475 |
1576 |
7.2e-29 |
SMART |
|
SPEC
|
1582 |
1682 |
8.03e-27 |
SMART |
|
SPEC
|
1688 |
1789 |
9.73e-26 |
SMART |
|
SPEC
|
1795 |
1895 |
9.82e-22 |
SMART |
|
SPEC
|
1901 |
2001 |
8.68e-23 |
SMART |
|
SPEC
|
2007 |
2114 |
2.66e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124231
AA Change: N229K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114841
Gene: ENSMUSG00000020315
AA Change: N229K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
|
CH
|
56 |
156 |
3.02e-28 |
SMART |
|
CH
|
175 |
273 |
8.73e-25 |
SMART |
|
SPEC
|
305 |
411 |
2.03e0 |
SMART |
|
SPEC
|
425 |
525 |
6.42e-26 |
SMART |
|
SPEC
|
531 |
635 |
4.61e-27 |
SMART |
|
SPEC
|
641 |
741 |
2.36e-33 |
SMART |
|
SPEC
|
747 |
846 |
1.2e-25 |
SMART |
|
SPEC
|
852 |
952 |
7.16e-24 |
SMART |
|
SPEC
|
958 |
1059 |
6.58e-23 |
SMART |
|
SPEC
|
1065 |
1166 |
1.79e-24 |
SMART |
|
SPEC
|
1172 |
1272 |
2.2e-24 |
SMART |
|
SPEC
|
1278 |
1377 |
5.18e-21 |
SMART |
|
SPEC
|
1383 |
1482 |
1.02e-19 |
SMART |
|
SPEC
|
1488 |
1589 |
7.2e-29 |
SMART |
|
SPEC
|
1595 |
1695 |
8.03e-27 |
SMART |
|
SPEC
|
1701 |
1802 |
9.73e-26 |
SMART |
|
SPEC
|
1808 |
1908 |
9.82e-22 |
SMART |
|
SPEC
|
1914 |
2014 |
8.68e-23 |
SMART |
|
SPEC
|
2020 |
2092 |
6.42e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
97% (99/102) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427G23Rik |
A |
T |
5: 23,831,050 (GRCm38) |
|
noncoding transcript |
Het |
| Acox2 |
A |
G |
14: 8,243,835 (GRCm38) |
|
probably benign |
Het |
| Adgb |
T |
C |
10: 10,431,067 (GRCm38) |
|
probably null |
Het |
| Adgra3 |
C |
A |
5: 49,961,757 (GRCm38) |
|
probably benign |
Het |
| Adgre4 |
G |
A |
17: 55,852,288 (GRCm38) |
V658I |
probably benign |
Het |
| Ahnak |
A |
G |
19: 9,012,871 (GRCm38) |
|
probably benign |
Het |
| Anapc2 |
A |
G |
2: 25,278,325 (GRCm38) |
T159A |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,613,127 (GRCm38) |
|
probably benign |
Het |
| Atf7ip |
C |
T |
6: 136,560,012 (GRCm38) |
S81L |
possibly damaging |
Het |
| Cacna1i |
A |
G |
15: 80,368,830 (GRCm38) |
|
probably benign |
Het |
| Camk1 |
A |
T |
6: 113,341,891 (GRCm38) |
Y20* |
probably null |
Het |
| Ccdc40 |
T |
C |
11: 119,232,118 (GRCm38) |
Y249H |
possibly damaging |
Het |
| Cd109 |
T |
A |
9: 78,712,615 (GRCm38) |
S1380T |
probably benign |
Het |
| Cfap57 |
A |
T |
4: 118,569,431 (GRCm38) |
L1107Q |
possibly damaging |
Het |
| Col6a4 |
C |
T |
9: 106,075,080 (GRCm38) |
V540I |
probably damaging |
Het |
| Cst9 |
T |
A |
2: 148,838,442 (GRCm38) |
|
probably benign |
Het |
| Cul5 |
C |
T |
9: 53,667,070 (GRCm38) |
V73I |
probably benign |
Het |
| Cxcl16 |
T |
A |
11: 70,458,748 (GRCm38) |
K84* |
probably null |
Het |
| Cyp2c29 |
T |
C |
19: 39,329,095 (GRCm38) |
|
probably benign |
Het |
| D6Ertd527e |
C |
G |
6: 87,111,524 (GRCm38) |
T223S |
unknown |
Het |
| Dip2c |
C |
T |
13: 9,568,289 (GRCm38) |
|
probably benign |
Het |
| Dis3 |
A |
T |
14: 99,087,456 (GRCm38) |
I513N |
probably damaging |
Het |
| Dnajc16 |
A |
T |
4: 141,789,048 (GRCm38) |
L3* |
probably null |
Het |
| Dop1a |
T |
A |
9: 86,506,502 (GRCm38) |
L480M |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,749,392 (GRCm38) |
V1787A |
possibly damaging |
Het |
| Etnk1 |
A |
G |
6: 143,180,774 (GRCm38) |
N115S |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,098,414 (GRCm38) |
Y758C |
probably damaging |
Het |
| Gbp4 |
G |
A |
5: 105,121,106 (GRCm38) |
R394C |
possibly damaging |
Het |
| Ggnbp2 |
A |
C |
11: 84,833,225 (GRCm38) |
|
probably benign |
Het |
| Gm7137 |
A |
G |
10: 77,788,173 (GRCm38) |
|
probably benign |
Het |
| Gstm2 |
T |
A |
3: 107,984,006 (GRCm38) |
Q132L |
probably benign |
Het |
| Habp2 |
T |
C |
19: 56,317,717 (GRCm38) |
|
probably benign |
Het |
| Hectd2 |
T |
C |
19: 36,584,884 (GRCm38) |
|
probably benign |
Het |
| Htr6 |
A |
G |
4: 139,062,081 (GRCm38) |
I291T |
possibly damaging |
Het |
| Ighg2c |
T |
C |
12: 113,287,910 (GRCm38) |
D199G |
unknown |
Het |
| Itih2 |
A |
G |
2: 10,105,615 (GRCm38) |
|
probably benign |
Het |
| Kcnab2 |
A |
G |
4: 152,395,136 (GRCm38) |
F248S |
probably benign |
Het |
| Kcnc4 |
T |
C |
3: 107,445,433 (GRCm38) |
K610E |
probably damaging |
Het |
| Kcnk16 |
T |
A |
14: 20,262,975 (GRCm38) |
|
probably null |
Het |
| Kndc1 |
C |
T |
7: 139,930,124 (GRCm38) |
T1293I |
probably damaging |
Het |
| Lcp1 |
A |
T |
14: 75,227,006 (GRCm38) |
I556F |
possibly damaging |
Het |
| Lrrc8d |
T |
C |
5: 105,811,865 (GRCm38) |
L47P |
probably damaging |
Het |
| Lyset |
T |
A |
12: 102,744,876 (GRCm38) |
Y119* |
probably null |
Het |
| Lyst |
T |
C |
13: 13,711,610 (GRCm38) |
|
probably benign |
Het |
| Macrod2 |
G |
A |
2: 142,210,145 (GRCm38) |
|
probably null |
Het |
| Mical2 |
C |
T |
7: 112,381,028 (GRCm38) |
R70C |
probably damaging |
Het |
| Mllt3 |
ACTGCTGCTGCTGCTGCTGCT |
ACTGCTGCTGCTGCTGCT |
4: 87,841,339 (GRCm38) |
|
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,346,786 (GRCm38) |
V283A |
possibly damaging |
Het |
| Nup205 |
T |
C |
6: 35,214,634 (GRCm38) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,326,614 (GRCm38) |
T114A |
probably damaging |
Het |
| Or51e2 |
C |
T |
7: 102,742,087 (GRCm38) |
M305I |
probably benign |
Het |
| Or5m10 |
A |
T |
2: 85,887,438 (GRCm38) |
I213F |
possibly damaging |
Het |
| Or5m9 |
A |
T |
2: 86,047,055 (GRCm38) |
H191L |
probably benign |
Het |
| Or8c15 |
A |
T |
9: 38,209,973 (GRCm38) |
M305L |
probably benign |
Het |
| Or8g2 |
A |
G |
9: 39,909,983 (GRCm38) |
Y60C |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 127,610,566 (GRCm38) |
G1221D |
probably damaging |
Het |
| Pax5 |
G |
A |
4: 44,691,886 (GRCm38) |
A120V |
probably damaging |
Het |
| Pcsk6 |
C |
T |
7: 66,033,874 (GRCm38) |
R746C |
probably damaging |
Het |
| Pif1 |
G |
A |
9: 65,588,051 (GRCm38) |
C81Y |
probably benign |
Het |
| Plcb1 |
A |
G |
2: 135,337,499 (GRCm38) |
Y609C |
probably damaging |
Het |
| Plcd4 |
C |
A |
1: 74,552,097 (GRCm38) |
S217Y |
probably damaging |
Het |
| Plxna1 |
G |
A |
6: 89,357,336 (GRCm38) |
H104Y |
probably benign |
Het |
| Polr2k |
A |
G |
15: 36,175,456 (GRCm38) |
Y45C |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,586,699 (GRCm38) |
|
probably benign |
Het |
| Pth2r |
A |
G |
1: 65,388,439 (GRCm38) |
M424V |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,391,366 (GRCm38) |
R464G |
probably benign |
Het |
| Rad51c |
A |
G |
11: 87,397,655 (GRCm38) |
L234P |
probably damaging |
Het |
| Rnf145 |
A |
G |
11: 44,525,138 (GRCm38) |
Y60C |
probably damaging |
Het |
| Rnf167 |
T |
C |
11: 70,649,699 (GRCm38) |
I135T |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,414,469 (GRCm38) |
I509F |
probably damaging |
Het |
| Ro60 |
G |
T |
1: 143,760,075 (GRCm38) |
N444K |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,869,156 (GRCm38) |
S213G |
probably damaging |
Het |
| Selenbp1 |
T |
C |
3: 94,936,913 (GRCm38) |
V27A |
possibly damaging |
Het |
| Selenof |
T |
G |
3: 144,577,692 (GRCm38) |
L14R |
probably damaging |
Het |
| Sfswap |
A |
T |
5: 129,504,126 (GRCm38) |
D121V |
probably damaging |
Het |
| Slc25a34 |
C |
A |
4: 141,620,469 (GRCm38) |
M300I |
possibly damaging |
Het |
| Slc34a3 |
T |
G |
2: 25,229,110 (GRCm38) |
T583P |
probably benign |
Het |
| Slc66a3 |
C |
A |
12: 16,997,710 (GRCm38) |
|
probably benign |
Het |
| Smg1 |
C |
A |
7: 118,182,468 (GRCm38) |
A1199S |
probably benign |
Het |
| Spint1 |
A |
G |
2: 119,245,615 (GRCm38) |
T231A |
probably damaging |
Het |
| Sult2b1 |
A |
G |
7: 45,730,092 (GRCm38) |
|
probably benign |
Het |
| Tas2r123 |
A |
T |
6: 132,847,838 (GRCm38) |
M233L |
probably damaging |
Het |
| Tbcel |
C |
A |
9: 42,444,500 (GRCm38) |
C139F |
probably benign |
Het |
| Thbs2 |
A |
C |
17: 14,679,973 (GRCm38) |
S573A |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,563,705 (GRCm38) |
E980G |
probably damaging |
Het |
| Tmem247 |
G |
T |
17: 86,922,322 (GRCm38) |
C197F |
probably damaging |
Het |
| Tmem43 |
C |
A |
6: 91,482,318 (GRCm38) |
P257Q |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,337,132 (GRCm38) |
|
probably null |
Het |
| Ubr5 |
T |
C |
15: 37,972,980 (GRCm38) |
T2626A |
probably damaging |
Het |
| Vmn1r196 |
T |
A |
13: 22,293,836 (GRCm38) |
V215D |
probably damaging |
Het |
| Vmn1r22 |
G |
T |
6: 57,900,332 (GRCm38) |
T220K |
probably benign |
Het |
| Vmn2r116 |
G |
A |
17: 23,387,279 (GRCm38) |
M388I |
possibly damaging |
Het |
| Vmn2r74 |
A |
C |
7: 85,961,410 (GRCm38) |
C25G |
probably damaging |
Het |
| Xndc1 |
T |
C |
7: 102,080,616 (GRCm38) |
|
probably benign |
Het |
| Zfp282 |
A |
G |
6: 47,897,881 (GRCm38) |
D340G |
probably damaging |
Het |
| Zfp282 |
T |
A |
6: 47,905,053 (GRCm38) |
I558N |
possibly damaging |
Het |
| Zfp316 |
T |
A |
5: 143,264,491 (GRCm38) |
T56S |
unknown |
Het |
| Zfp345 |
A |
G |
2: 150,474,559 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Sptbn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Sptbn1
|
APN |
11 |
30,110,818 (GRCm38) |
nonsense |
probably null |
|
|
IGL01098:Sptbn1
|
APN |
11 |
30,159,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01843:Sptbn1
|
APN |
11 |
30,104,623 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02070:Sptbn1
|
APN |
11 |
30,145,979 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02075:Sptbn1
|
APN |
11 |
30,138,496 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02094:Sptbn1
|
APN |
11 |
30,100,659 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02102:Sptbn1
|
APN |
11 |
30,137,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02189:Sptbn1
|
APN |
11 |
30,117,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02256:Sptbn1
|
APN |
11 |
30,120,990 (GRCm38) |
missense |
probably benign |
0.24 |
|
IGL02301:Sptbn1
|
APN |
11 |
30,142,129 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02354:Sptbn1
|
APN |
11 |
30,110,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02361:Sptbn1
|
APN |
11 |
30,110,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02377:Sptbn1
|
APN |
11 |
30,119,491 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02504:Sptbn1
|
APN |
11 |
30,142,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02672:Sptbn1
|
APN |
11 |
30,137,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02733:Sptbn1
|
APN |
11 |
30,197,747 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL02755:Sptbn1
|
APN |
11 |
30,142,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0006:Sptbn1
|
UTSW |
11 |
30,123,855 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0006:Sptbn1
|
UTSW |
11 |
30,123,855 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0096:Sptbn1
|
UTSW |
11 |
30,114,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0139:Sptbn1
|
UTSW |
11 |
30,142,289 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0370:Sptbn1
|
UTSW |
11 |
30,121,545 (GRCm38) |
missense |
probably benign |
|
|
R0389:Sptbn1
|
UTSW |
11 |
30,139,250 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0552:Sptbn1
|
UTSW |
11 |
30,145,985 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0601:Sptbn1
|
UTSW |
11 |
30,150,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0609:Sptbn1
|
UTSW |
11 |
30,138,979 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0675:Sptbn1
|
UTSW |
11 |
30,117,903 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0708:Sptbn1
|
UTSW |
11 |
30,114,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0711:Sptbn1
|
UTSW |
11 |
30,114,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0729:Sptbn1
|
UTSW |
11 |
30,110,902 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0755:Sptbn1
|
UTSW |
11 |
30,139,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0892:Sptbn1
|
UTSW |
11 |
30,142,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0927:Sptbn1
|
UTSW |
11 |
30,121,591 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1102:Sptbn1
|
UTSW |
11 |
30,120,785 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1460:Sptbn1
|
UTSW |
11 |
30,138,637 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1479:Sptbn1
|
UTSW |
11 |
30,113,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1496:Sptbn1
|
UTSW |
11 |
30,121,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1649:Sptbn1
|
UTSW |
11 |
30,137,301 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1663:Sptbn1
|
UTSW |
11 |
30,120,783 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1671:Sptbn1
|
UTSW |
11 |
30,142,245 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R1680:Sptbn1
|
UTSW |
11 |
30,159,371 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1695:Sptbn1
|
UTSW |
11 |
30,136,124 (GRCm38) |
missense |
probably benign |
0.13 |
|
R1868:Sptbn1
|
UTSW |
11 |
30,114,781 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1918:Sptbn1
|
UTSW |
11 |
30,142,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1921:Sptbn1
|
UTSW |
11 |
30,104,469 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2026:Sptbn1
|
UTSW |
11 |
30,104,559 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2038:Sptbn1
|
UTSW |
11 |
30,159,293 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2047:Sptbn1
|
UTSW |
11 |
30,138,360 (GRCm38) |
splice site |
probably benign |
|
|
R2312:Sptbn1
|
UTSW |
11 |
30,154,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3430:Sptbn1
|
UTSW |
11 |
30,219,686 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R3624:Sptbn1
|
UTSW |
11 |
30,140,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3723:Sptbn1
|
UTSW |
11 |
30,137,335 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R3862:Sptbn1
|
UTSW |
11 |
30,142,329 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R4446:Sptbn1
|
UTSW |
11 |
30,139,114 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R4582:Sptbn1
|
UTSW |
11 |
30,219,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4705:Sptbn1
|
UTSW |
11 |
30,100,660 (GRCm38) |
missense |
probably benign |
|
|
R4707:Sptbn1
|
UTSW |
11 |
30,137,197 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R4718:Sptbn1
|
UTSW |
11 |
30,154,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4789:Sptbn1
|
UTSW |
11 |
30,117,759 (GRCm38) |
missense |
probably benign |
|
|
R4824:Sptbn1
|
UTSW |
11 |
30,118,295 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4855:Sptbn1
|
UTSW |
11 |
30,142,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5009:Sptbn1
|
UTSW |
11 |
30,124,016 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5071:Sptbn1
|
UTSW |
11 |
30,113,854 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5153:Sptbn1
|
UTSW |
11 |
30,121,510 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5334:Sptbn1
|
UTSW |
11 |
30,137,364 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5462:Sptbn1
|
UTSW |
11 |
30,100,520 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5523:Sptbn1
|
UTSW |
11 |
30,137,560 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5707:Sptbn1
|
UTSW |
11 |
30,143,174 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5724:Sptbn1
|
UTSW |
11 |
30,144,113 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5738:Sptbn1
|
UTSW |
11 |
30,145,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5864:Sptbn1
|
UTSW |
11 |
30,145,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5895:Sptbn1
|
UTSW |
11 |
30,123,978 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5932:Sptbn1
|
UTSW |
11 |
30,136,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5966:Sptbn1
|
UTSW |
11 |
30,124,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5984:Sptbn1
|
UTSW |
11 |
30,118,464 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6155:Sptbn1
|
UTSW |
11 |
30,137,403 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6163:Sptbn1
|
UTSW |
11 |
30,159,443 (GRCm38) |
nonsense |
probably null |
|
|
R6226:Sptbn1
|
UTSW |
11 |
30,136,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6271:Sptbn1
|
UTSW |
11 |
30,100,660 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6443:Sptbn1
|
UTSW |
11 |
30,139,429 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R6591:Sptbn1
|
UTSW |
11 |
30,113,984 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6616:Sptbn1
|
UTSW |
11 |
30,124,030 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6691:Sptbn1
|
UTSW |
11 |
30,113,984 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6751:Sptbn1
|
UTSW |
11 |
30,117,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6823:Sptbn1
|
UTSW |
11 |
30,114,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6863:Sptbn1
|
UTSW |
11 |
30,146,777 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6885:Sptbn1
|
UTSW |
11 |
30,138,634 (GRCm38) |
missense |
probably benign |
0.26 |
|
R6892:Sptbn1
|
UTSW |
11 |
30,142,187 (GRCm38) |
missense |
probably benign |
0.27 |
|
R6998:Sptbn1
|
UTSW |
11 |
30,100,633 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7043:Sptbn1
|
UTSW |
11 |
30,103,323 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7092:Sptbn1
|
UTSW |
11 |
30,137,119 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7272:Sptbn1
|
UTSW |
11 |
30,114,859 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7301:Sptbn1
|
UTSW |
11 |
30,117,798 (GRCm38) |
nonsense |
probably null |
|
|
R7379:Sptbn1
|
UTSW |
11 |
30,139,292 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7774:Sptbn1
|
UTSW |
11 |
30,142,142 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7813:Sptbn1
|
UTSW |
11 |
30,138,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7837:Sptbn1
|
UTSW |
11 |
30,138,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7843:Sptbn1
|
UTSW |
11 |
30,154,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7846:Sptbn1
|
UTSW |
11 |
30,142,153 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7877:Sptbn1
|
UTSW |
11 |
30,129,601 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7902:Sptbn1
|
UTSW |
11 |
30,136,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8060:Sptbn1
|
UTSW |
11 |
30,101,616 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8116:Sptbn1
|
UTSW |
11 |
30,139,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8169:Sptbn1
|
UTSW |
11 |
30,197,783 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R8208:Sptbn1
|
UTSW |
11 |
30,124,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8247:Sptbn1
|
UTSW |
11 |
30,113,906 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R8412:Sptbn1
|
UTSW |
11 |
30,138,457 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8470:Sptbn1
|
UTSW |
11 |
30,120,758 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8544:Sptbn1
|
UTSW |
11 |
30,219,750 (GRCm38) |
start gained |
probably benign |
|
|
R8674:Sptbn1
|
UTSW |
11 |
30,139,352 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R8846:Sptbn1
|
UTSW |
11 |
30,125,009 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8889:Sptbn1
|
UTSW |
11 |
30,117,800 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8892:Sptbn1
|
UTSW |
11 |
30,117,800 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8927:Sptbn1
|
UTSW |
11 |
30,138,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8928:Sptbn1
|
UTSW |
11 |
30,138,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8975:Sptbn1
|
UTSW |
11 |
30,123,869 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R9115:Sptbn1
|
UTSW |
11 |
30,137,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9127:Sptbn1
|
UTSW |
11 |
30,154,356 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9193:Sptbn1
|
UTSW |
11 |
30,137,551 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9237:Sptbn1
|
UTSW |
11 |
30,146,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Sptbn1
|
UTSW |
11 |
30,197,787 (GRCm38) |
missense |
probably benign |
0.13 |
|
Z1176:Sptbn1
|
UTSW |
11 |
30,137,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Sptbn1
|
UTSW |
11 |
30,120,659 (GRCm38) |
missense |
probably benign |
0.27 |
|
Z1177:Sptbn1
|
UTSW |
11 |
30,114,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCCTCAAAGCGTTCGCTTC -3'
(R):5'- GGCATGGCCTTCAATGCACTGATAC -3'
Sequencing Primer
(F):5'- CTCAACTGTTGCCATAACTGG -3'
(R):5'- GTACCATAGTGGAAATTCCTGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation