Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01530:Tsc2'

89735

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tsc2

Ensembl Gene

ENSMUSG00000002496

Gene Name

TSC complex subunit 2

Synonyms

tuberin, Nafld, tuberous sclerosis 2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01530

Quality Score

Status

Chromosome

Chromosomal Location

24814790-24851604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24841636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 328 (T328A)

Ref Sequence

ENSEMBL: ENSMUSP00000153869 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097373
AA Change: T328A

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: T328A

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

possibly damaging
Transcript: ENSMUST00000226284
AA Change: T328A

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226398
AA Change: T328A

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000227607
AA Change: T269A

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000227745
AA Change: T328A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227754

Predicted Effect

probably benign
Transcript: ENSMUST00000228412
AA Change: T328A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	G	A	14: 54,881,443 (GRCm39)	R1117W	probably damaging	Het
Acox2	T	G	14: 8,246,363 (GRCm38)	Y476S	probably damaging	Het
Arl6ip5	G	A	6: 97,187,785 (GRCm39)	D2N	possibly damaging	Het
Ces2h	A	G	8: 105,741,116 (GRCm39)	H36R	probably benign	Het
Cfap44	C	A	16: 44,269,530 (GRCm39)	A1178E	probably damaging	Het
Clmn	T	A	12: 104,758,115 (GRCm39)	I134F	probably damaging	Het
Col6a5	A	G	9: 105,792,385 (GRCm39)		probably benign	Het
Csmd1	C	T	8: 15,953,195 (GRCm39)	E3429K	probably damaging	Het
Csmd2	A	G	4: 128,308,094 (GRCm39)	D1284G	possibly damaging	Het
Csmd3	C	T	15: 47,701,833 (GRCm39)	G1750E	possibly damaging	Het
Csmd3	T	G	15: 47,533,013 (GRCm39)	D2516A	probably damaging	Het
Depdc1a	C	T	3: 159,229,560 (GRCm39)	H631Y	probably damaging	Het
Fat2	A	T	11: 55,174,213 (GRCm39)	S2167T	probably benign	Het
Flii	G	A	11: 60,611,008 (GRCm39)	R474*	probably null	Het
Hmcn2	A	C	2: 31,244,276 (GRCm39)	D687A	possibly damaging	Het
Hrh4	A	G	18: 13,149,004 (GRCm39)		probably benign	Het
Hsd3b5	G	A	3: 98,526,439 (GRCm39)	R336C	probably damaging	Het
Igkv5-39	T	A	6: 69,877,459 (GRCm39)	E79V	probably damaging	Het
Iqgap3	G	A	3: 88,019,610 (GRCm39)		probably null	Het
Irak3	G	A	10: 119,978,699 (GRCm39)	S492F	probably benign	Het
Kif14	T	A	1: 136,406,157 (GRCm39)		probably benign	Het
Kmt2c	T	C	5: 25,518,498 (GRCm39)	I2394V	probably benign	Het
Lama1	C	T	17: 68,103,785 (GRCm39)	A2002V	probably benign	Het
Map3k19	T	C	1: 127,749,841 (GRCm39)	E1170G	probably damaging	Het
Mdn1	T	C	4: 32,711,938 (GRCm39)		probably benign	Het
Mpo	G	T	11: 87,692,017 (GRCm39)	M483I	probably benign	Het
Neu3	T	C	7: 99,462,953 (GRCm39)	S257G	probably benign	Het
Nhsl3	G	A	4: 129,116,589 (GRCm39)		probably null	Het
Niban3	A	T	8: 72,056,561 (GRCm39)		probably benign	Het
Nup214	A	G	2: 31,923,733 (GRCm39)	T1421A	probably benign	Het
Pbx1	T	C	1: 168,018,873 (GRCm39)	N324S	probably benign	Het
Pcbp2	T	C	15: 102,392,601 (GRCm39)	S5P	probably benign	Het
Pds5b	A	G	5: 150,715,640 (GRCm39)	I511V	probably benign	Het
Pdzph1	C	T	17: 59,229,710 (GRCm39)	D983N	probably damaging	Het
Phldb2	A	C	16: 45,623,092 (GRCm39)	D651E	probably damaging	Het
Pkhd1	A	G	1: 20,629,643 (GRCm39)		probably null	Het
Plxnb1	A	G	9: 108,939,473 (GRCm39)	D1406G	probably benign	Het
Rhebl1	T	C	15: 98,777,367 (GRCm39)	D65G	probably damaging	Het
Smpdl3a	A	G	10: 57,683,989 (GRCm39)	H249R	probably damaging	Het
Sorbs1	T	C	19: 40,365,091 (GRCm39)	T231A	probably benign	Het
Tmem232	G	A	17: 65,563,543 (GRCm39)	Q617*	probably null	Het
Trim62	A	G	4: 128,778,252 (GRCm39)	D97G	probably benign	Het
Ugt2b5	C	T	5: 87,285,104 (GRCm39)	V278I	probably benign	Het
Usp4	T	C	9: 108,240,099 (GRCm39)		probably null	Het
Vdac3-ps1	C	T	13: 18,206,091 (GRCm39)		noncoding transcript	Het
Wwc2	T	A	8: 48,316,974 (GRCm39)	R706S	unknown	Het
Xpot	A	C	10: 121,447,433 (GRCm39)	I114S	probably damaging	Het
Zfp777	T	A	6: 48,020,918 (GRCm39)	S279C	probably damaging	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
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
R0570:Tsc2	UTSW	17	24,845,701 (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

Posted On

2013-12-03