Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02741:Tsc2'

305898

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tsc2

Ensembl Gene

ENSMUSG00000002496

Gene Name

tuberous sclerosis 2

Synonyms

tuberin, Nafld

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02741

Quality Score

Status

Chromosome

Chromosomal Location

24595816-24632630 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24629969 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 79 (E79G)

Ref Sequence

ENSEMBL: ENSMUSP00000154706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047611] [ENSMUST00000097373] [ENSMUST00000226284] [ENSMUST00000226398] [ENSMUST00000227509] [ENSMUST00000227607] [ENSMUST00000227745] [ENSMUST00000228412]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047611

SMART Domains

Protein: ENSMUSP00000047413
Gene: ENSMUSG00000041429

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
low complexity region	24	37	N/A	INTRINSIC
low complexity region	55	68	N/A	INTRINSIC
ENDO3c	126	276	1.06e-58	SMART
FES	277	297	4.82e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000097373
AA Change: E79G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: E79G

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: E79G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226398
AA Change: E79G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000227509

Predicted Effect

probably damaging
Transcript: ENSMUST00000227607
AA Change: E20G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227745
AA Change: E79G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227754

Predicted Effect

probably damaging
Transcript: ENSMUST00000228412
AA Change: E79G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930004D18Rik	T	C	2: 18,027,196	Y37C	unknown	Het
Arhgap20	T	A	9: 51,848,645	C599S	probably benign	Het
Bcl6b	C	A	11: 70,229,116	R15L	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dchs1	C	T	7: 105,757,323	D2262N	probably damaging	Het
Dsg4	A	G	18: 20,471,496	M1007V	probably benign	Het
Fgd6	A	G	10: 94,123,290	K1032R	possibly damaging	Het
Fras1	T	A	5: 96,691,371	M1583K	probably benign	Het
Gjc3	A	T	5: 137,957,464	C186*	probably null	Het
Gm14496	A	G	2: 181,991,343	R40G	probably benign	Het
Ibtk	T	C	9: 85,726,612	R416G	probably damaging	Het
Kcnc4	A	G	3: 107,447,978	F385L	probably damaging	Het
Mapk8ip2	T	C	15: 89,457,497	S304P	probably damaging	Het
Mbd6	A	G	10: 127,287,394		probably null	Het
Mroh2b	T	C	15: 4,905,632	F183S	probably benign	Het
Nrg1	T	A	8: 31,822,288	T334S	probably damaging	Het
Pigw	C	T	11: 84,878,366	V46I	probably benign	Het
Pkdrej	T	C	15: 85,817,430	E1435G	probably benign	Het
Pkhd1	T	C	1: 20,220,029		probably benign	Het
Prkdc	A	T	16: 15,752,726		probably benign	Het
Ptprd	A	T	4: 76,133,284	I247N	probably damaging	Het
Rfx1	A	G	8: 84,095,842	Q923R	possibly damaging	Het
Rgs11	G	A	17: 26,207,631	V279I	probably benign	Het
Rps6ka2	T	A	17: 7,296,016	F608I	probably benign	Het
Slc13a1	A	T	6: 24,150,708		probably null	Het
Slc6a20b	C	T	9: 123,607,602	V249M	probably damaging	Het
Slc9c1	A	G	16: 45,581,598	I783V	possibly damaging	Het
Swap70	G	T	7: 110,274,649	M401I	probably benign	Het
Tmco4	A	T	4: 139,029,877	I407F	probably damaging	Het
Trpm4	T	A	7: 45,318,488	S340C	possibly damaging	Het
Ubr1	A	C	2: 120,941,091	S439A	probably benign	Het
Vmn1r73	T	C	7: 11,756,783	V176A	probably benign	Het
Vmn2r17	G	A	5: 109,420,211	D67N	probably benign	Het
Wasf1	C	T	10: 40,930,709	T116M	probably damaging	Het
Zkscan3	A	T	13: 21,393,994	M241K	probably benign	Het

Other mutations in Tsc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Tsc2	APN	17	24608107	missense	probably damaging	1.00
IGL00985:Tsc2	APN	17	24597131	missense	probably damaging	1.00
IGL01386:Tsc2	APN	17	24613285	missense	probably damaging	1.00
IGL01468:Tsc2	APN	17	24621097	missense	possibly damaging	0.90
IGL01530:Tsc2	APN	17	24622662	missense	possibly damaging	0.76
IGL02390:Tsc2	APN	17	24600453	missense	probably damaging	1.00
IGL02398:Tsc2	APN	17	24621729	missense	probably damaging	1.00
IGL03191:Tsc2	APN	17	24628054	missense	probably damaging	1.00
IGL03372:Tsc2	APN	17	24619470	missense	probably damaging	1.00
IGL03412:Tsc2	APN	17	24597068	missense	probably damaging	0.98
Twitch	UTSW	17	24596742	splice site	probably null
PIT4515001:Tsc2	UTSW	17	24621147	missense	probably benign	0.15
R0025:Tsc2	UTSW	17	24631004	splice site	probably benign
R0025:Tsc2	UTSW	17	24631004	splice site	probably benign
R0138:Tsc2	UTSW	17	24599626	missense	possibly damaging	0.65
R0540:Tsc2	UTSW	17	24621712	missense	probably damaging	1.00
R0570:Tsc2	UTSW	17	24626727	missense	probably damaging	1.00
R0607:Tsc2	UTSW	17	24621712	missense	probably damaging	1.00
R0826:Tsc2	UTSW	17	24596958	missense	probably benign	0.04
R1430:Tsc2	UTSW	17	24599023	critical splice donor site	probably null
R1440:Tsc2	UTSW	17	24614392	missense	probably damaging	1.00
R1466:Tsc2	UTSW	17	24608973	missense	probably damaging	1.00
R1466:Tsc2	UTSW	17	24608973	missense	probably damaging	1.00
R1541:Tsc2	UTSW	17	24631976	missense	probably damaging	1.00
R1717:Tsc2	UTSW	17	24597068	missense	probably damaging	0.98
R1799:Tsc2	UTSW	17	24604408	missense	probably benign
R2030:Tsc2	UTSW	17	24623470	splice site	probably benign
R2147:Tsc2	UTSW	17	24621142	missense	possibly damaging	0.62
R2888:Tsc2	UTSW	17	24631995	critical splice donor site	probably null
R3609:Tsc2	UTSW	17	24622550	missense	possibly damaging	0.74
R3610:Tsc2	UTSW	17	24622550	missense	possibly damaging	0.74
R3811:Tsc2	UTSW	17	24629037	missense	probably benign	0.09
R3895:Tsc2	UTSW	17	24599812	missense	probably damaging	1.00
R3962:Tsc2	UTSW	17	24621166	splice site	probably benign
R3971:Tsc2	UTSW	17	24623588	missense	probably damaging	1.00
R4018:Tsc2	UTSW	17	24625281	missense	probably damaging	0.99
R4184:Tsc2	UTSW	17	24632016	missense	probably benign	0.43
R4435:Tsc2	UTSW	17	24599713	missense	probably benign	0.01
R4437:Tsc2	UTSW	17	24599713	missense	probably benign	0.01
R4474:Tsc2	UTSW	17	24597264	missense	probably damaging	0.98
R4703:Tsc2	UTSW	17	24604909	missense	probably benign	0.13
R4731:Tsc2	UTSW	17	24603275	missense	possibly damaging	0.72
R4732:Tsc2	UTSW	17	24603275	missense	possibly damaging	0.72
R4733:Tsc2	UTSW	17	24603275	missense	possibly damaging	0.72
R4817:Tsc2	UTSW	17	24596742	splice site	probably null
R4890:Tsc2	UTSW	17	24600035	missense	probably damaging	1.00
R4922:Tsc2	UTSW	17	24600369	missense	probably benign	0.22
R5119:Tsc2	UTSW	17	24603280	missense	probably benign	0.00
R5393:Tsc2	UTSW	17	24600396	missense	possibly damaging	0.89
R5785:Tsc2	UTSW	17	24599887	splice site	probably null
R5838:Tsc2	UTSW	17	24613216	missense	probably benign	0.01
R5857:Tsc2	UTSW	17	24600007	missense	probably damaging	0.99
R5911:Tsc2	UTSW	17	24600387	missense	possibly damaging	0.63
R5988:Tsc2	UTSW	17	24620766	missense	probably damaging	1.00
R6275:Tsc2	UTSW	17	24600420	missense	probably benign	0.00
R6290:Tsc2	UTSW	17	24596910	missense	probably benign	0.04
R6371:Tsc2	UTSW	17	24626714	missense	probably benign	0.00
R6467:Tsc2	UTSW	17	24609127	missense	probably benign	0.04
R6577:Tsc2	UTSW	17	24610499	missense	probably damaging	1.00
R6728:Tsc2	UTSW	17	24621124	missense	probably damaging	1.00
R6918:Tsc2	UTSW	17	24613229	missense	probably damaging	1.00
R6995:Tsc2	UTSW	17	24628054	missense	probably damaging	1.00
R7026:Tsc2	UTSW	17	24626739	missense	probably damaging	0.99
R7136:Tsc2	UTSW	17	24613280	missense	probably benign	0.00
R7236:Tsc2	UTSW	17	24623594	missense	possibly damaging	0.82
R7243:Tsc2	UTSW	17	24599630	missense	probably benign	0.02
R7249:Tsc2	UTSW	17	24607755	missense	probably damaging	1.00
R7450:Tsc2	UTSW	17	24600031	missense	probably damaging	1.00
R7522:Tsc2	UTSW	17	24630965	missense	probably damaging	1.00
R7529:Tsc2	UTSW	17	24597948	missense	probably damaging	0.98
R7637:Tsc2	UTSW	17	24607492	missense	probably benign	0.13
R7781:Tsc2	UTSW	17	24608115	missense	possibly damaging	0.52
R8005:Tsc2	UTSW	17	24599596	missense	probably damaging	0.98
R8262:Tsc2	UTSW	17	24614366	missense	probably benign	0.06
R8268:Tsc2	UTSW	17	24600010	missense	probably benign	0.44
R8400:Tsc2	UTSW	17	24604987	missense	possibly damaging	0.62
R9020:Tsc2	UTSW	17	24626717	missense	probably damaging	0.99
R9039:Tsc2	UTSW	17	24607515	missense	probably benign	0.01
R9065:Tsc2	UTSW	17	24603190	missense	probably benign	0.39
R9123:Tsc2	UTSW	17	24604828	missense	probably null	0.40
R9125:Tsc2	UTSW	17	24604828	missense	probably null	0.40
R9186:Tsc2	UTSW	17	24604888	missense	probably damaging	1.00
R9390:Tsc2	UTSW	17	24604850	missense	probably damaging	1.00
R9542:Tsc2	UTSW	17	24600334	critical splice donor site	probably null
R9721:Tsc2	UTSW	17	24599642	nonsense	probably null
Z1177:Tsc2	UTSW	17	24620779	missense	possibly damaging	0.61

Posted On

2015-04-16