Incidental Mutation 'R0570:Tsc2'
| ID |
46412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc2
|
| Ensembl Gene |
ENSMUSG00000002496 |
| Gene Name |
TSC complex subunit 2 |
| Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
| MMRRC Submission |
038761-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0570 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24845701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 206
(C206S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000227607]
[ENSMUST00000227745]
[ENSMUST00000228412]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097373
AA Change: C206S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: C206S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3384
|
54 |
470 |
4e-103 |
PFAM |
|
Pfam:Tuberin
|
555 |
903 |
5.9e-149 |
PFAM |
|
low complexity region
|
1023 |
1054 |
N/A |
INTRINSIC |
|
low complexity region
|
1271 |
1278 |
N/A |
INTRINSIC |
|
low complexity region
|
1310 |
1328 |
N/A |
INTRINSIC |
|
low complexity region
|
1330 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1378 |
1398 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
1497 |
1685 |
1.3e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226284
AA Change: C206S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226398
AA Change: C206S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227607
AA Change: C147S
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227745
AA Change: C206S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227754
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228412
AA Change: C206S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.7705 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (85/85) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit liver hypoplasia, open neural tube, thickened myocardium and die by embryonic day 9.5-12.5. Heterozygotes develop renal cystadenomas, liver hemangiomas (sometimes resulting in fatal bleeding) and lung adenomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067K01Rik |
C |
A |
8: 84,729,733 (GRCm39) |
|
probably benign |
Het |
| Aadacl3 |
C |
T |
4: 144,190,130 (GRCm39) |
W57* |
probably null |
Het |
| Abca2 |
G |
T |
2: 25,337,417 (GRCm39) |
|
probably null |
Het |
| Abca3 |
A |
G |
17: 24,593,373 (GRCm39) |
I257V |
probably benign |
Het |
| Adamts2 |
A |
G |
11: 50,666,963 (GRCm39) |
D420G |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,696,135 (GRCm39) |
F341L |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,062 (GRCm39) |
D4115E |
probably damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,751,751 (GRCm39) |
S365P |
possibly damaging |
Het |
| Atrn |
G |
A |
2: 130,822,054 (GRCm39) |
V916I |
probably benign |
Het |
| Blmh |
T |
C |
11: 76,856,651 (GRCm39) |
V82A |
probably damaging |
Het |
| C1ra |
A |
T |
6: 124,490,664 (GRCm39) |
Y19F |
probably benign |
Het |
| Cactin |
A |
G |
10: 81,159,067 (GRCm39) |
E306G |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,787,566 (GRCm39) |
R2724Q |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,631,110 (GRCm39) |
E250G |
probably benign |
Het |
| Col17a1 |
A |
T |
19: 47,654,317 (GRCm39) |
S647T |
possibly damaging |
Het |
| Cope |
T |
A |
8: 70,759,181 (GRCm39) |
D74E |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,403,435 (GRCm39) |
I198T |
probably damaging |
Het |
| Elfn2 |
T |
C |
15: 78,557,434 (GRCm39) |
N371S |
probably damaging |
Het |
| Elmo2 |
G |
T |
2: 165,146,839 (GRCm39) |
A246D |
probably benign |
Het |
| Ewsr1 |
A |
T |
11: 5,035,935 (GRCm39) |
M187K |
possibly damaging |
Het |
| Faap100 |
A |
T |
11: 120,265,114 (GRCm39) |
S587R |
possibly damaging |
Het |
| Fam234b |
C |
T |
6: 135,186,247 (GRCm39) |
S85L |
probably benign |
Het |
| Fanca |
A |
T |
8: 124,033,169 (GRCm39) |
S292R |
probably benign |
Het |
| Fanci |
G |
A |
7: 79,093,711 (GRCm39) |
C1021Y |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 25,245,640 (GRCm39) |
I1230T |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,536,456 (GRCm39) |
L27S |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,502,031 (GRCm39) |
V147A |
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,583,301 (GRCm39) |
Y309C |
probably damaging |
Het |
| Foxb1 |
T |
C |
9: 69,666,844 (GRCm39) |
T229A |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,618,552 (GRCm39) |
Y274H |
probably damaging |
Het |
| Gbp8 |
T |
C |
5: 105,165,541 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,730,480 (GRCm39) |
L888Q |
probably damaging |
Het |
| Gm17490 |
T |
C |
2: 11,630,460 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
T |
A |
5: 134,237,785 (GRCm39) |
|
probably null |
Het |
| H2-Q1 |
A |
G |
17: 35,540,373 (GRCm39) |
T153A |
possibly damaging |
Het |
| Ina |
A |
C |
19: 47,011,938 (GRCm39) |
E452A |
probably benign |
Het |
| Kars1 |
A |
G |
8: 112,721,494 (GRCm39) |
|
probably null |
Het |
| Kif1c |
A |
G |
11: 70,595,291 (GRCm39) |
E124G |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,745,944 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,390,878 (GRCm39) |
C3006* |
probably null |
Het |
| Lyst |
T |
C |
13: 13,883,971 (GRCm39) |
L2953P |
probably benign |
Het |
| Mb21d2 |
G |
A |
16: 28,748,324 (GRCm39) |
A31V |
probably benign |
Het |
| Melk |
T |
C |
4: 44,308,906 (GRCm39) |
Y88H |
probably damaging |
Het |
| Myrf |
A |
G |
19: 10,189,161 (GRCm39) |
S857P |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,826,187 (GRCm39) |
I153M |
possibly damaging |
Het |
| Or4n4 |
T |
G |
14: 50,519,370 (GRCm39) |
L113F |
probably benign |
Het |
| Otof |
A |
G |
5: 30,529,225 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
A |
G |
2: 121,955,789 (GRCm39) |
V249A |
probably damaging |
Het |
| Pcgf5 |
A |
G |
19: 36,389,580 (GRCm39) |
Y19C |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,247,941 (GRCm39) |
V951E |
probably damaging |
Het |
| Pcolce2 |
T |
C |
9: 95,520,710 (GRCm39) |
V29A |
probably benign |
Het |
| Pdgfrb |
A |
T |
18: 61,210,775 (GRCm39) |
M761L |
probably benign |
Het |
| Pi16 |
A |
T |
17: 29,538,189 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pkd2 |
T |
A |
5: 104,603,471 (GRCm39) |
|
probably benign |
Het |
| Plcb2 |
A |
G |
2: 118,547,806 (GRCm39) |
W474R |
probably benign |
Het |
| Psapl1 |
A |
G |
5: 36,361,624 (GRCm39) |
D72G |
possibly damaging |
Het |
| Ptpn5 |
T |
A |
7: 46,728,681 (GRCm39) |
|
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,215,896 (GRCm38) |
E1115G |
probably damaging |
Het |
| Rassf1 |
C |
T |
9: 107,435,165 (GRCm39) |
T224I |
probably damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,566,476 (GRCm39) |
C168* |
probably null |
Het |
| Rhag |
A |
G |
17: 41,139,804 (GRCm39) |
|
probably benign |
Het |
| Rhebl1 |
C |
T |
15: 98,779,034 (GRCm39) |
V17I |
probably benign |
Het |
| Rnf130 |
A |
T |
11: 49,986,703 (GRCm39) |
D349V |
possibly damaging |
Het |
| Rprd1a |
A |
G |
18: 24,642,952 (GRCm39) |
L60P |
probably damaging |
Het |
| Rspry1 |
T |
C |
8: 95,356,420 (GRCm39) |
I25T |
probably damaging |
Het |
| Ruvbl2 |
C |
T |
7: 45,071,621 (GRCm39) |
V421M |
probably damaging |
Het |
| Sap30 |
T |
C |
8: 57,936,000 (GRCm39) |
N209D |
possibly damaging |
Het |
| Sfswap |
T |
C |
5: 129,581,042 (GRCm39) |
|
probably benign |
Het |
| Slc1a2 |
G |
A |
2: 102,586,352 (GRCm39) |
V319M |
probably damaging |
Het |
| Smad2 |
T |
C |
18: 76,422,250 (GRCm39) |
|
probably benign |
Het |
| Spdya |
T |
C |
17: 71,869,585 (GRCm39) |
|
probably null |
Het |
| Stk39 |
G |
A |
2: 68,240,392 (GRCm39) |
T113M |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,626,382 (GRCm39) |
|
probably benign |
Het |
| Tas2r122 |
T |
C |
6: 132,688,774 (GRCm39) |
K40E |
probably damaging |
Het |
| Tph2 |
G |
T |
10: 115,010,039 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
G |
A |
1: 84,729,269 (GRCm39) |
S1083F |
probably damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,760,681 (GRCm39) |
Q34R |
possibly damaging |
Het |
| Uroc1 |
G |
T |
6: 90,315,546 (GRCm39) |
M142I |
possibly damaging |
Het |
| Uso1 |
T |
C |
5: 92,347,682 (GRCm39) |
S766P |
probably benign |
Het |
| Usp21 |
G |
A |
1: 171,111,319 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,360,437 (GRCm39) |
I658K |
possibly damaging |
Het |
| Vmn1r206 |
T |
C |
13: 22,804,583 (GRCm39) |
H208R |
probably damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,760,937 (GRCm39) |
A807T |
probably damaging |
Het |
| Zfp329 |
A |
T |
7: 12,544,379 (GRCm39) |
C382S |
probably damaging |
Het |
| Zfp341 |
A |
G |
2: 154,487,988 (GRCm39) |
E817G |
probably benign |
Het |
|
| Other mutations in Tsc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Tsc2
|
APN |
17 |
24,827,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00985:Tsc2
|
APN |
17 |
24,816,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Tsc2
|
APN |
17 |
24,832,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01468:Tsc2
|
APN |
17 |
24,840,071 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01530:Tsc2
|
APN |
17 |
24,841,636 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02390:Tsc2
|
APN |
17 |
24,819,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02398:Tsc2
|
APN |
17 |
24,840,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02741:Tsc2
|
APN |
17 |
24,848,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03191:Tsc2
|
APN |
17 |
24,847,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03372:Tsc2
|
APN |
17 |
24,838,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03412:Tsc2
|
APN |
17 |
24,816,042 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Twitch
|
UTSW |
17 |
24,815,716 (GRCm39) |
splice site |
probably null |
|
|
PIT4515001:Tsc2
|
UTSW |
17 |
24,840,121 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0025:Tsc2
|
UTSW |
17 |
24,849,978 (GRCm39) |
splice site |
probably benign |
|
|
R0025:Tsc2
|
UTSW |
17 |
24,849,978 (GRCm39) |
splice site |
probably benign |
|
|
R0138:Tsc2
|
UTSW |
17 |
24,818,600 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0540:Tsc2
|
UTSW |
17 |
24,840,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Tsc2
|
UTSW |
17 |
24,840,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Tsc2
|
UTSW |
17 |
24,815,932 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1430:Tsc2
|
UTSW |
17 |
24,817,997 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1440:Tsc2
|
UTSW |
17 |
24,833,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Tsc2
|
UTSW |
17 |
24,827,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Tsc2
|
UTSW |
17 |
24,827,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1541:Tsc2
|
UTSW |
17 |
24,850,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Tsc2
|
UTSW |
17 |
24,816,042 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1799:Tsc2
|
UTSW |
17 |
24,823,382 (GRCm39) |
missense |
probably benign |
|
|
R2030:Tsc2
|
UTSW |
17 |
24,842,444 (GRCm39) |
splice site |
probably benign |
|
|
R2147:Tsc2
|
UTSW |
17 |
24,840,116 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2888:Tsc2
|
UTSW |
17 |
24,850,969 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3609:Tsc2
|
UTSW |
17 |
24,841,524 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3610:Tsc2
|
UTSW |
17 |
24,841,524 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3811:Tsc2
|
UTSW |
17 |
24,848,011 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3895:Tsc2
|
UTSW |
17 |
24,818,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3962:Tsc2
|
UTSW |
17 |
24,840,140 (GRCm39) |
splice site |
probably benign |
|
|
R3971:Tsc2
|
UTSW |
17 |
24,842,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4018:Tsc2
|
UTSW |
17 |
24,844,255 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4184:Tsc2
|
UTSW |
17 |
24,850,990 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4435:Tsc2
|
UTSW |
17 |
24,818,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4437:Tsc2
|
UTSW |
17 |
24,818,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4474:Tsc2
|
UTSW |
17 |
24,816,238 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4703:Tsc2
|
UTSW |
17 |
24,823,883 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4731:Tsc2
|
UTSW |
17 |
24,822,249 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4732:Tsc2
|
UTSW |
17 |
24,822,249 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4733:Tsc2
|
UTSW |
17 |
24,822,249 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4817:Tsc2
|
UTSW |
17 |
24,815,716 (GRCm39) |
splice site |
probably null |
|
|
R4890:Tsc2
|
UTSW |
17 |
24,819,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4922:Tsc2
|
UTSW |
17 |
24,819,343 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5119:Tsc2
|
UTSW |
17 |
24,822,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5393:Tsc2
|
UTSW |
17 |
24,819,370 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5785:Tsc2
|
UTSW |
17 |
24,818,861 (GRCm39) |
splice site |
probably null |
|
|
R5838:Tsc2
|
UTSW |
17 |
24,832,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5857:Tsc2
|
UTSW |
17 |
24,818,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5911:Tsc2
|
UTSW |
17 |
24,819,361 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5988:Tsc2
|
UTSW |
17 |
24,839,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6275:Tsc2
|
UTSW |
17 |
24,819,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6290:Tsc2
|
UTSW |
17 |
24,815,884 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6371:Tsc2
|
UTSW |
17 |
24,845,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6467:Tsc2
|
UTSW |
17 |
24,828,101 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6577:Tsc2
|
UTSW |
17 |
24,829,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6728:Tsc2
|
UTSW |
17 |
24,840,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Tsc2
|
UTSW |
17 |
24,832,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Tsc2
|
UTSW |
17 |
24,847,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Tsc2
|
UTSW |
17 |
24,845,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7136:Tsc2
|
UTSW |
17 |
24,832,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7236:Tsc2
|
UTSW |
17 |
24,842,568 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7243:Tsc2
|
UTSW |
17 |
24,818,604 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7249:Tsc2
|
UTSW |
17 |
24,826,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7450:Tsc2
|
UTSW |
17 |
24,819,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7522:Tsc2
|
UTSW |
17 |
24,849,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Tsc2
|
UTSW |
17 |
24,816,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7637:Tsc2
|
UTSW |
17 |
24,826,466 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7781:Tsc2
|
UTSW |
17 |
24,827,089 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8005:Tsc2
|
UTSW |
17 |
24,818,570 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8262:Tsc2
|
UTSW |
17 |
24,833,340 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8268:Tsc2
|
UTSW |
17 |
24,818,984 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8400:Tsc2
|
UTSW |
17 |
24,823,961 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9020:Tsc2
|
UTSW |
17 |
24,845,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9039:Tsc2
|
UTSW |
17 |
24,826,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9065:Tsc2
|
UTSW |
17 |
24,822,164 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9123:Tsc2
|
UTSW |
17 |
24,823,802 (GRCm39) |
missense |
probably null |
0.40 |
|
R9125:Tsc2
|
UTSW |
17 |
24,823,802 (GRCm39) |
missense |
probably null |
0.40 |
|
R9186:Tsc2
|
UTSW |
17 |
24,823,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9390:Tsc2
|
UTSW |
17 |
24,823,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Tsc2
|
UTSW |
17 |
24,819,308 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9721:Tsc2
|
UTSW |
17 |
24,818,616 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Tsc2
|
UTSW |
17 |
24,839,753 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCATCGTAAGCACGACTTCC -3'
(R):5'- GTTTGCTTTACACCATGCACTCAGC -3'
Sequencing Primer
(F):5'- GGCTATTACAACACTATGCAGAG -3'
(R):5'- cgctgggcatgtggttg -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation