Incidental Mutation 'R2011:Sptb'
| ID |
219766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptb
|
| Ensembl Gene |
ENSMUSG00000021061 |
| Gene Name |
spectrin beta, erythrocytic |
| Synonyms |
LOC383567, brain erythroid spectrin (235E), spectrin R, D330027P03Rik, Spnb-1, Spnb1 |
| MMRRC Submission |
040020-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.858)
|
| Stock # |
R2011 (G1)
|
| Quality Score |
182 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
76627262-76757321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 76679246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 70
(R70G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021458]
[ENSMUST00000166101]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021458
AA Change: R70G
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061
AA Change: R70G
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
56 |
156 |
2.73e-26 |
SMART |
|
CH
|
175 |
273 |
4.57e-28 |
SMART |
|
SPEC
|
305 |
411 |
2.71e0 |
SMART |
|
SPEC
|
425 |
525 |
4.65e-23 |
SMART |
|
SPEC
|
531 |
634 |
4.51e-21 |
SMART |
|
SPEC
|
640 |
740 |
3.02e-31 |
SMART |
|
SPEC
|
746 |
845 |
1.47e-20 |
SMART |
|
SPEC
|
851 |
951 |
1.04e-20 |
SMART |
|
SPEC
|
957 |
1058 |
7.22e-20 |
SMART |
|
SPEC
|
1064 |
1165 |
2.06e-24 |
SMART |
|
SPEC
|
1171 |
1271 |
3.84e-15 |
SMART |
|
SPEC
|
1277 |
1376 |
2.22e-20 |
SMART |
|
SPEC
|
1382 |
1475 |
5.04e-10 |
SMART |
|
SPEC
|
1481 |
1581 |
3.58e-24 |
SMART |
|
SPEC
|
1587 |
1687 |
4.11e-24 |
SMART |
|
SPEC
|
1693 |
1794 |
2.91e-24 |
SMART |
|
SPEC
|
1800 |
1900 |
7.8e-16 |
SMART |
|
SPEC
|
1906 |
2006 |
3.16e-25 |
SMART |
|
SPEC
|
2012 |
2193 |
4.32e-9 |
SMART |
|
PH
|
2180 |
2291 |
8.98e-16 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166101
AA Change: R70G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129782
Gene: ENSMUSG00000021061
AA Change: R70G
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
56 |
156 |
2.73e-26 |
SMART |
|
CH
|
175 |
273 |
4.57e-28 |
SMART |
|
SPEC
|
305 |
411 |
2.71e0 |
SMART |
|
SPEC
|
425 |
525 |
4.65e-23 |
SMART |
|
SPEC
|
531 |
634 |
4.51e-21 |
SMART |
|
SPEC
|
640 |
740 |
3.02e-31 |
SMART |
|
SPEC
|
746 |
845 |
1.47e-20 |
SMART |
|
SPEC
|
851 |
951 |
1.04e-20 |
SMART |
|
SPEC
|
957 |
1058 |
7.22e-20 |
SMART |
|
SPEC
|
1064 |
1165 |
2.06e-24 |
SMART |
|
SPEC
|
1171 |
1271 |
3.84e-15 |
SMART |
|
SPEC
|
1277 |
1376 |
2.22e-20 |
SMART |
|
SPEC
|
1382 |
1475 |
5.87e-11 |
SMART |
|
SPEC
|
1481 |
1581 |
3.58e-24 |
SMART |
|
SPEC
|
1587 |
1687 |
4.11e-24 |
SMART |
|
SPEC
|
1693 |
1794 |
2.91e-24 |
SMART |
|
SPEC
|
1800 |
1900 |
7.8e-16 |
SMART |
|
SPEC
|
1906 |
2006 |
3.16e-25 |
SMART |
|
SPEC
|
2012 |
2117 |
1.16e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly, and jaundice. Mutants die within a few days of birth. Heterozygotes are mildly anemic. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 107 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd6 |
A |
T |
14: 8,042,742 (GRCm38) |
T100S |
probably benign |
Het |
| Adam6a |
T |
C |
12: 113,508,998 (GRCm39) |
I457T |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,246,996 (GRCm39) |
N863S |
probably benign |
Het |
| Agk |
C |
A |
6: 40,353,168 (GRCm39) |
D177E |
probably benign |
Het |
| Alg9 |
C |
T |
9: 50,699,500 (GRCm39) |
A209V |
probably damaging |
Het |
| Arl6 |
A |
T |
16: 59,444,676 (GRCm39) |
I51K |
probably damaging |
Het |
| Bpi |
A |
T |
2: 158,103,272 (GRCm39) |
H89L |
probably damaging |
Het |
| C1qtnf1 |
T |
A |
11: 118,339,110 (GRCm39) |
F260Y |
probably benign |
Het |
| Cblc |
T |
A |
7: 19,518,747 (GRCm39) |
D452V |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,612,473 (GRCm39) |
T231A |
probably benign |
Het |
| Ccdc112 |
A |
G |
18: 46,420,499 (GRCm39) |
L417P |
probably damaging |
Het |
| Ccdc34 |
G |
A |
2: 109,874,649 (GRCm39) |
R336Q |
possibly damaging |
Het |
| CK137956 |
A |
G |
4: 127,844,829 (GRCm39) |
S305P |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,531,969 (GRCm39) |
D612G |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 8,059,360 (GRCm39) |
T692A |
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,793,676 (GRCm39) |
|
probably null |
Het |
| Ctnna2 |
T |
A |
6: 76,950,774 (GRCm39) |
I566F |
possibly damaging |
Het |
| Cux2 |
C |
T |
5: 121,999,389 (GRCm39) |
D1184N |
probably benign |
Het |
| Dclk3 |
A |
G |
9: 111,297,422 (GRCm39) |
E322G |
probably benign |
Het |
| Ddx41 |
A |
T |
13: 55,681,906 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
G |
A |
12: 69,243,559 (GRCm39) |
P107S |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,261,428 (GRCm39) |
E578G |
probably damaging |
Het |
| Exd1 |
A |
G |
2: 119,359,144 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,173,583 (GRCm39) |
P2377S |
probably damaging |
Het |
| Fbxl18 |
T |
C |
5: 142,858,214 (GRCm39) |
T741A |
probably benign |
Het |
| Fgr |
C |
A |
4: 132,724,832 (GRCm39) |
A311E |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,626,458 (GRCm39) |
T363A |
probably damaging |
Het |
| Fsbp |
T |
C |
4: 11,584,006 (GRCm39) |
V235A |
probably benign |
Het |
| Gm1110 |
T |
A |
9: 26,805,554 (GRCm39) |
H366L |
probably benign |
Het |
| Gm43302 |
T |
C |
5: 105,438,846 (GRCm39) |
N14S |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,124,764 (GRCm39) |
|
noncoding transcript |
Het |
| Gm57858 |
A |
T |
3: 36,064,827 (GRCm39) |
C515* |
probably null |
Het |
| Gpr21 |
A |
G |
2: 37,407,547 (GRCm39) |
E31G |
probably damaging |
Het |
| Gucy1b2 |
G |
T |
14: 62,646,207 (GRCm39) |
N560K |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,553,085 (GRCm39) |
Q2535R |
probably benign |
Het |
| Hnrnpm |
A |
T |
17: 33,883,598 (GRCm39) |
N264K |
probably damaging |
Het |
| Hyal6 |
A |
T |
6: 24,734,723 (GRCm39) |
I219L |
possibly damaging |
Het |
| Ifi211 |
A |
G |
1: 173,735,169 (GRCm39) |
S87P |
probably damaging |
Het |
| Il17rb |
A |
T |
14: 29,718,797 (GRCm39) |
C428* |
probably null |
Het |
| Iqca1 |
T |
C |
1: 89,973,348 (GRCm39) |
N808S |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,408,470 (GRCm39) |
I94V |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,217,324 (GRCm39) |
E517V |
probably damaging |
Het |
| Mcidas |
A |
G |
13: 113,130,515 (GRCm39) |
E37G |
possibly damaging |
Het |
| Med23 |
T |
A |
10: 24,755,653 (GRCm39) |
F83L |
possibly damaging |
Het |
| Micu2 |
T |
C |
14: 58,191,590 (GRCm39) |
|
probably null |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,282 (GRCm39) |
C179S |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,215,004 (GRCm39) |
T1236A |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,703,915 (GRCm39) |
V1946E |
possibly damaging |
Het |
| Nek10 |
A |
T |
14: 14,885,122 (GRCm38) |
Y695F |
probably damaging |
Het |
| Nr3c2 |
A |
T |
8: 77,636,422 (GRCm39) |
I508F |
possibly damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,141 (GRCm39) |
S91P |
probably damaging |
Het |
| Or14a260 |
A |
T |
7: 85,984,955 (GRCm39) |
Y216* |
probably null |
Het |
| Or2ag13 |
T |
C |
7: 106,472,634 (GRCm39) |
I273V |
probably benign |
Het |
| Or5w1b |
A |
T |
2: 87,476,233 (GRCm39) |
I78N |
probably damaging |
Het |
| Or8k23 |
A |
T |
2: 86,186,530 (GRCm39) |
H65Q |
possibly damaging |
Het |
| Or9s13 |
T |
C |
1: 92,548,471 (GRCm39) |
V281A |
probably benign |
Het |
| Oxct1 |
T |
C |
15: 4,183,243 (GRCm39) |
S485P |
probably benign |
Het |
| Oxt |
A |
G |
2: 130,418,572 (GRCm39) |
D61G |
probably damaging |
Het |
| P2ry10 |
A |
C |
X: 106,146,241 (GRCm39) |
I59L |
probably damaging |
Het |
| Parp11 |
A |
G |
6: 127,454,854 (GRCm39) |
N124S |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 57,876,971 (GRCm39) |
N175K |
probably damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,194,566 (GRCm39) |
S114R |
probably benign |
Het |
| Pfdn5 |
A |
G |
15: 102,234,956 (GRCm39) |
N54S |
possibly damaging |
Het |
| Phc2 |
T |
A |
4: 128,617,378 (GRCm39) |
V468E |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,192,815 (GRCm39) |
T1605A |
probably damaging |
Het |
| Pik3cb |
A |
T |
9: 98,987,632 (GRCm39) |
Y35* |
probably null |
Het |
| Piwil2 |
A |
T |
14: 70,664,083 (GRCm39) |
M22K |
probably damaging |
Het |
| Plag1 |
A |
G |
4: 3,904,889 (GRCm39) |
F101L |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,158,173 (GRCm39) |
L680P |
possibly damaging |
Het |
| Ppp1r36 |
A |
G |
12: 76,465,700 (GRCm39) |
|
probably null |
Het |
| Prkag2 |
C |
T |
5: 25,076,052 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
T |
C |
19: 31,641,542 (GRCm39) |
D47G |
possibly damaging |
Het |
| Prl6a1 |
G |
A |
13: 27,499,352 (GRCm39) |
G45D |
probably benign |
Het |
| Rbm20 |
G |
A |
19: 53,847,859 (GRCm39) |
C1135Y |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,787,923 (GRCm39) |
N465K |
probably benign |
Het |
| Rlig1 |
T |
G |
10: 100,419,820 (GRCm39) |
D58A |
probably damaging |
Het |
| Rtcb |
A |
T |
10: 85,777,797 (GRCm39) |
I459N |
probably damaging |
Het |
| Rtp3 |
A |
T |
9: 110,815,102 (GRCm39) |
|
probably benign |
Het |
| Rundc3b |
T |
A |
5: 8,562,409 (GRCm39) |
|
probably null |
Het |
| Scube3 |
A |
G |
17: 28,387,132 (GRCm39) |
T877A |
probably damaging |
Het |
| Sh2d4a |
A |
T |
8: 68,799,394 (GRCm39) |
Q421L |
probably benign |
Het |
| Siglec1 |
A |
T |
2: 130,925,277 (GRCm39) |
Y395N |
probably damaging |
Het |
| Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
| Slco1c1 |
T |
A |
6: 141,500,833 (GRCm39) |
F437L |
probably benign |
Het |
| Slco3a1 |
G |
A |
7: 73,996,419 (GRCm39) |
A329V |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,983,201 (GRCm39) |
L504* |
probably null |
Het |
| Spen |
A |
T |
4: 141,200,640 (GRCm39) |
N2662K |
probably damaging |
Het |
| Stk3 |
A |
G |
15: 35,072,644 (GRCm39) |
S136P |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,735,584 (GRCm39) |
F1456L |
probably damaging |
Het |
| Tbx5 |
T |
C |
5: 119,979,971 (GRCm39) |
|
probably null |
Het |
| Tchh |
G |
A |
3: 93,354,268 (GRCm39) |
R1236Q |
unknown |
Het |
| Timd4 |
C |
A |
11: 46,710,857 (GRCm39) |
T253K |
possibly damaging |
Het |
| Tmc6 |
A |
G |
11: 117,660,232 (GRCm39) |
Y669H |
probably damaging |
Het |
| Tmem151a |
C |
T |
19: 5,132,966 (GRCm39) |
R80H |
probably benign |
Het |
| Tpgs1 |
T |
C |
10: 79,511,722 (GRCm39) |
L288P |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,334,698 (GRCm39) |
I659V |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,665,917 (GRCm39) |
Y896* |
probably null |
Het |
| Ttc5 |
C |
A |
14: 51,019,007 (GRCm39) |
E37* |
probably null |
Het |
| Uvrag |
A |
G |
7: 98,589,096 (GRCm39) |
|
probably null |
Het |
| Vmn1r59 |
T |
A |
7: 5,457,283 (GRCm39) |
D159V |
probably damaging |
Het |
| Vmn2r78 |
G |
A |
7: 86,604,287 (GRCm39) |
V822M |
possibly damaging |
Het |
| Vnn1 |
C |
A |
10: 23,770,869 (GRCm39) |
Y32* |
probably null |
Het |
| Wrn |
A |
G |
8: 33,726,432 (GRCm39) |
V1380A |
probably benign |
Het |
| Zc3h14 |
A |
C |
12: 98,746,527 (GRCm39) |
S579R |
possibly damaging |
Het |
| Zfp277 |
G |
A |
12: 40,367,217 (GRCm39) |
Q480* |
probably null |
Het |
| Zfp456 |
G |
A |
13: 67,514,993 (GRCm39) |
Q238* |
probably null |
Het |
| Zranb3 |
T |
A |
1: 128,019,638 (GRCm39) |
T35S |
probably benign |
Het |
|
| Other mutations in Sptb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Sptb
|
APN |
12 |
76,668,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00160:Sptb
|
APN |
12 |
76,669,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00229:Sptb
|
APN |
12 |
76,667,527 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL00820:Sptb
|
APN |
12 |
76,679,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01309:Sptb
|
APN |
12 |
76,634,237 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01408:Sptb
|
APN |
12 |
76,659,921 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01450:Sptb
|
APN |
12 |
76,671,014 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01455:Sptb
|
APN |
12 |
76,659,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01457:Sptb
|
APN |
12 |
76,659,329 (GRCm39) |
splice site |
probably benign |
|
|
IGL01680:Sptb
|
APN |
12 |
76,677,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02070:Sptb
|
APN |
12 |
76,652,313 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02346:Sptb
|
APN |
12 |
76,667,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Sptb
|
APN |
12 |
76,655,810 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02515:Sptb
|
APN |
12 |
76,653,261 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02545:Sptb
|
APN |
12 |
76,654,754 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02644:Sptb
|
APN |
12 |
76,652,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02878:Sptb
|
APN |
12 |
76,667,527 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03007:Sptb
|
APN |
12 |
76,668,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03220:Sptb
|
APN |
12 |
76,659,684 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03343:Sptb
|
APN |
12 |
76,630,330 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03098:Sptb
|
UTSW |
12 |
76,668,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4472001:Sptb
|
UTSW |
12 |
76,667,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Sptb
|
UTSW |
12 |
76,669,724 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0365:Sptb
|
UTSW |
12 |
76,647,157 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0373:Sptb
|
UTSW |
12 |
76,668,145 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0704:Sptb
|
UTSW |
12 |
76,630,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1005:Sptb
|
UTSW |
12 |
76,648,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1109:Sptb
|
UTSW |
12 |
76,650,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1264:Sptb
|
UTSW |
12 |
76,659,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1358:Sptb
|
UTSW |
12 |
76,668,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1358:Sptb
|
UTSW |
12 |
76,668,095 (GRCm39) |
frame shift |
probably null |
|
|
R1459:Sptb
|
UTSW |
12 |
76,658,657 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1518:Sptb
|
UTSW |
12 |
76,650,798 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1628:Sptb
|
UTSW |
12 |
76,630,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Sptb
|
UTSW |
12 |
76,667,943 (GRCm39) |
missense |
probably benign |
|
|
R1677:Sptb
|
UTSW |
12 |
76,676,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Sptb
|
UTSW |
12 |
76,650,473 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1695:Sptb
|
UTSW |
12 |
76,667,641 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1708:Sptb
|
UTSW |
12 |
76,659,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1761:Sptb
|
UTSW |
12 |
76,659,382 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1925:Sptb
|
UTSW |
12 |
76,669,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2373:Sptb
|
UTSW |
12 |
76,667,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2517:Sptb
|
UTSW |
12 |
76,696,643 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2918:Sptb
|
UTSW |
12 |
76,645,532 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2961:Sptb
|
UTSW |
12 |
76,650,356 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3409:Sptb
|
UTSW |
12 |
76,657,589 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3410:Sptb
|
UTSW |
12 |
76,657,589 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3411:Sptb
|
UTSW |
12 |
76,657,589 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3744:Sptb
|
UTSW |
12 |
76,647,174 (GRCm39) |
missense |
probably benign |
|
|
R4112:Sptb
|
UTSW |
12 |
76,644,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4177:Sptb
|
UTSW |
12 |
76,659,953 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4194:Sptb
|
UTSW |
12 |
76,659,784 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4301:Sptb
|
UTSW |
12 |
76,659,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4555:Sptb
|
UTSW |
12 |
76,659,625 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4619:Sptb
|
UTSW |
12 |
76,630,581 (GRCm39) |
nonsense |
probably null |
|
|
R4620:Sptb
|
UTSW |
12 |
76,630,581 (GRCm39) |
nonsense |
probably null |
|
|
R4625:Sptb
|
UTSW |
12 |
76,634,100 (GRCm39) |
splice site |
probably null |
|
|
R4728:Sptb
|
UTSW |
12 |
76,630,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4751:Sptb
|
UTSW |
12 |
76,673,884 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4810:Sptb
|
UTSW |
12 |
76,669,971 (GRCm39) |
nonsense |
probably null |
|
|
R4888:Sptb
|
UTSW |
12 |
76,655,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4894:Sptb
|
UTSW |
12 |
76,671,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5114:Sptb
|
UTSW |
12 |
76,656,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Sptb
|
UTSW |
12 |
76,659,608 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5479:Sptb
|
UTSW |
12 |
76,646,625 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5646:Sptb
|
UTSW |
12 |
76,634,215 (GRCm39) |
missense |
probably benign |
|
|
R5725:Sptb
|
UTSW |
12 |
76,669,888 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5727:Sptb
|
UTSW |
12 |
76,669,888 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5797:Sptb
|
UTSW |
12 |
76,650,473 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5874:Sptb
|
UTSW |
12 |
76,645,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5952:Sptb
|
UTSW |
12 |
76,679,158 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5956:Sptb
|
UTSW |
12 |
76,650,942 (GRCm39) |
missense |
probably benign |
|
|
R6298:Sptb
|
UTSW |
12 |
76,667,428 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6470:Sptb
|
UTSW |
12 |
76,659,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6477:Sptb
|
UTSW |
12 |
76,653,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Sptb
|
UTSW |
12 |
76,659,954 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6854:Sptb
|
UTSW |
12 |
76,650,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Sptb
|
UTSW |
12 |
76,654,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6987:Sptb
|
UTSW |
12 |
76,660,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7023:Sptb
|
UTSW |
12 |
76,671,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:Sptb
|
UTSW |
12 |
76,650,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7379:Sptb
|
UTSW |
12 |
76,657,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7389:Sptb
|
UTSW |
12 |
76,671,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7392:Sptb
|
UTSW |
12 |
76,671,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7477:Sptb
|
UTSW |
12 |
76,675,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7653:Sptb
|
UTSW |
12 |
76,675,271 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7684:Sptb
|
UTSW |
12 |
76,658,969 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7733:Sptb
|
UTSW |
12 |
76,644,695 (GRCm39) |
splice site |
probably null |
|
|
R7846:Sptb
|
UTSW |
12 |
76,655,300 (GRCm39) |
nonsense |
probably null |
|
|
R8048:Sptb
|
UTSW |
12 |
76,675,333 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8261:Sptb
|
UTSW |
12 |
76,668,036 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8324:Sptb
|
UTSW |
12 |
76,665,936 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8512:Sptb
|
UTSW |
12 |
76,648,826 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8515:Sptb
|
UTSW |
12 |
76,658,815 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8558:Sptb
|
UTSW |
12 |
76,659,561 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8872:Sptb
|
UTSW |
12 |
76,658,813 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8907:Sptb
|
UTSW |
12 |
76,634,186 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9047:Sptb
|
UTSW |
12 |
76,679,308 (GRCm39) |
splice site |
probably benign |
|
|
R9079:Sptb
|
UTSW |
12 |
76,677,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:Sptb
|
UTSW |
12 |
76,673,776 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9381:Sptb
|
UTSW |
12 |
76,634,292 (GRCm39) |
missense |
probably benign |
|
|
R9601:Sptb
|
UTSW |
12 |
76,667,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9680:Sptb
|
UTSW |
12 |
76,677,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9771:Sptb
|
UTSW |
12 |
76,650,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0057:Sptb
|
UTSW |
12 |
76,677,513 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Sptb
|
UTSW |
12 |
76,667,507 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Sptb
|
UTSW |
12 |
76,653,219 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1177:Sptb
|
UTSW |
12 |
76,630,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAAGGCCTTTCCTCAAG -3'
(R):5'- GACTTGCAGGGTTGGCATATACC -3'
Sequencing Primer
(F):5'- AAGGCCTTTCCTCAAGAGGTG -3'
(R):5'- GGTTGGCATATACCCCCAGAAATG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation