Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02398:Tsc2'

291750

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 #

IGL02398

Quality Score

Status

Chromosome

Chromosomal Location

24814790-24851604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24840703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 326 (H326Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153758 (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: H385Q

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: H385Q

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: H385Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226398
AA Change: H385Q

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227607
AA Change: H326Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227745
AA Change: H385Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227754

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228412
AA Change: H385Q

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,709,824 (GRCm39)	C160*	probably null	Het
Alkbh8	C	T	9: 3,345,870 (GRCm39)	P197S	possibly damaging	Het
Ankef1	A	C	2: 136,397,702 (GRCm39)	N761T	probably damaging	Het
Ankrd7	A	G	6: 18,866,696 (GRCm39)	Y72C	probably damaging	Het
Cfap36	T	G	11: 29,172,833 (GRCm39)	M231L	probably benign	Het
Cog7	A	G	7: 121,563,432 (GRCm39)	C227R	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cspg4	A	T	9: 56,793,970 (GRCm39)	E568D	probably benign	Het
Cwc27	G	A	13: 104,940,762 (GRCm39)	T199I	possibly damaging	Het
Cyp26a1	A	G	19: 37,688,467 (GRCm39)	I330V	probably benign	Het
Dcaf7	T	C	11: 105,944,579 (GRCm39)	V254A	probably benign	Het
Dhrs7	G	A	12: 72,711,466 (GRCm39)	R24C	probably damaging	Het
Ehmt2	T	A	17: 35,127,455 (GRCm39)	C838S	probably damaging	Het
Fn1	A	T	1: 71,657,829 (GRCm39)		probably null	Het
Gjb3	T	A	4: 127,219,855 (GRCm39)	S226C	probably benign	Het
Gm14496	A	G	2: 181,637,963 (GRCm39)	I346V	probably benign	Het
Gm8050	T	C	14: 17,930,894 (GRCm39)	E172G	probably damaging	Het
Higd1a	G	A	9: 121,681,590 (GRCm39)	R22W	probably damaging	Het
Hmcn1	A	G	1: 150,678,648 (GRCm39)	L491S	possibly damaging	Het
Igsf9b	T	C	9: 27,244,426 (GRCm39)	S794P	possibly damaging	Het
Irgm2	A	T	11: 58,110,755 (GRCm39)	I161F	probably damaging	Het
Lrp8	G	T	4: 107,704,691 (GRCm39)	V304F	probably damaging	Het
Lrp8	C	A	4: 107,726,245 (GRCm39)	S850R	probably damaging	Het
Lrrc9	A	T	12: 72,513,677 (GRCm39)	M513L	probably benign	Het
Myo18b	A	T	5: 112,978,178 (GRCm39)	V1248E	possibly damaging	Het
Myo1b	A	T	1: 51,797,050 (GRCm39)	N945K	probably damaging	Het
Nipbl	A	G	15: 8,356,574 (GRCm39)	L1604P	probably damaging	Het
Oas1f	A	T	5: 120,989,568 (GRCm39)	Y169F	probably benign	Het
Ogfod3	G	A	11: 121,093,851 (GRCm39)	T53I	probably benign	Het
Or2a56	A	T	6: 42,933,046 (GRCm39)	I205F	probably benign	Het
Or52r1c	G	A	7: 102,735,313 (GRCm39)	C191Y	probably damaging	Het
Or8k22	A	T	2: 86,162,868 (GRCm39)	Y277*	probably null	Het
Parp8	A	G	13: 117,047,399 (GRCm39)		probably null	Het
Pde4dip	T	C	3: 97,674,097 (GRCm39)	Y273C	probably benign	Het
Pgbd5	C	T	8: 125,111,257 (GRCm39)	A54T	probably damaging	Het
Pglyrp4	G	A	3: 90,646,424 (GRCm39)		probably benign	Het
Piezo1	A	T	8: 123,213,302 (GRCm39)	S1819R	probably benign	Het
Polr1a	T	C	6: 71,913,540 (GRCm39)		probably benign	Het
Polr1b	A	G	2: 128,944,886 (GRCm39)	I61V	probably benign	Het
Prlhr	G	T	19: 60,455,753 (GRCm39)	A271E	probably damaging	Het
Rad23b	C	T	4: 55,350,360 (GRCm39)		probably benign	Het
Rad51ap1	A	T	6: 126,905,114 (GRCm39)	S132R	probably damaging	Het
Ros1	T	A	10: 52,020,980 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,677,767 (GRCm39)	D1327G	probably benign	Het
Slit1	A	C	19: 41,590,676 (GRCm39)	V1332G	probably damaging	Het
Spin2h	A	G	X: 32,162,153 (GRCm39)	D224G	probably damaging	Het
Tmem178b	A	G	6: 40,184,461 (GRCm39)	M120V	probably damaging	Het
Trim25	T	C	11: 88,890,630 (GRCm39)	C106R	probably damaging	Het
Trim35	A	G	14: 66,546,697 (GRCm39)	Y488C	probably damaging	Het
Yap1	A	T	9: 7,950,536 (GRCm39)	I315K	probably benign	Het
Zfp654	A	G	16: 64,606,381 (GRCm39)	V607A	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
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

2015-04-16