Mutagenetix > Incidental Mutation

Incidental Mutation 'R2014:Tsc1'

222498

Institutional Source

Beutler Lab

Gene Symbol

Tsc1

Ensembl Gene

ENSMUSG00000026812

Gene Name

TSC complex subunit 1

Synonyms

tuberous sclerosis 1, hamartin

MMRRC Submission

040023-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28531240-28581179 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 28555649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028155] [ENSMUST00000113867] [ENSMUST00000113869] [ENSMUST00000113870] [ENSMUST00000133565] [ENSMUST00000156857]

AlphaFold

Q9EP53

Predicted Effect

probably benign
Transcript: ENSMUST00000028155

SMART Domains

Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	2	715	2.2e-281	PFAM
SCOP:d1eq1a_	723	886	4e-11	SMART
low complexity region	974	990	N/A	INTRINSIC
low complexity region	1025	1042	N/A	INTRINSIC
low complexity region	1099	1117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113867

SMART Domains

Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	2	710	7.3e-279	PFAM
SCOP:d1eq1a_	718	881	6e-11	SMART
low complexity region	969	985	N/A	INTRINSIC
low complexity region	1020	1037	N/A	INTRINSIC
low complexity region	1094	1112	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113869

SMART Domains

Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	7	716	6e-279	PFAM
SCOP:d1eq1a_	724	887	4e-11	SMART
low complexity region	975	991	N/A	INTRINSIC
low complexity region	1026	1043	N/A	INTRINSIC
low complexity region	1100	1118	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113870

SMART Domains

Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	2	715	2.2e-281	PFAM
SCOP:d1eq1a_	723	886	4e-11	SMART
low complexity region	974	990	N/A	INTRINSIC
low complexity region	1025	1042	N/A	INTRINSIC
low complexity region	1099	1117	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124507

Predicted Effect

probably benign
Transcript: ENSMUST00000133565

SMART Domains

Protein: ENSMUSP00000120888
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	2	455	1.3e-198	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150274

Predicted Effect

probably benign
Transcript: ENSMUST00000156857

SMART Domains

Protein: ENSMUSP00000115380
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	2	348	2.3e-170	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153625

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

96% (105/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygous null mutants show liver hypoplasia, open neural tube and die by embryonic day 10.5-11.5. Heterozygotes develop kidney cystadenomas and liver hemangiomas. Conditional astrocyte-specific nulls show increased astrocyte numbers and seizures. [provided by MGI curators]

Allele List at MGI

All alleles(38) : Targeted(7) Gene trapped(31)

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	G	17: 48,347,723 (GRCm39)	T194P	possibly damaging	Het
Aadacl4fm5	A	T	4: 144,506,295 (GRCm39)	L132Q	probably damaging	Het
Acsbg2	T	A	17: 57,160,855 (GRCm39)	K263M	possibly damaging	Het
Adcy8	C	T	15: 64,639,727 (GRCm39)	G678S	probably benign	Het
Adgrl2	C	T	3: 148,532,111 (GRCm39)	G1041R	probably damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Aire	T	C	10: 77,878,792 (GRCm39)	D85G	probably damaging	Het
Alkbh8	C	T	9: 3,343,216 (GRCm39)	Q36*	probably null	Het
Amer3	T	C	1: 34,618,525 (GRCm39)		probably benign	Het
Angptl8	T	C	9: 21,748,358 (GRCm39)		probably null	Het
Ankmy1	T	C	1: 92,812,863 (GRCm39)	D482G	probably benign	Het
Apc	A	G	18: 34,448,644 (GRCm39)	I1813V	probably damaging	Het
Asb13	T	G	13: 3,699,512 (GRCm39)		probably null	Het
Blm	T	C	7: 80,152,147 (GRCm39)	E600G	probably damaging	Het
Cd163	G	T	6: 124,302,457 (GRCm39)	W1007L	probably damaging	Het
Cdr1	A	G	X: 60,228,420 (GRCm39)	F249L	probably benign	Het
Cp	A	G	3: 20,041,598 (GRCm39)	K44E	probably benign	Het
Crtap	C	A	9: 114,210,653 (GRCm39)		probably null	Het
Ctsk	A	G	3: 95,414,003 (GRCm39)	D250G	probably damaging	Het
Dcp2	T	C	18: 44,543,363 (GRCm39)	V307A	probably benign	Het
Dnah6	T	A	6: 73,150,402 (GRCm39)	D787V	probably damaging	Het
Dtx3l	G	A	16: 35,756,797 (GRCm39)	H129Y	probably benign	Het
Ece2	A	G	16: 20,461,067 (GRCm39)	T442A	probably benign	Het
Espl1	C	T	15: 102,231,149 (GRCm39)	R17*	probably null	Het
Espn	G	T	4: 152,217,416 (GRCm39)		probably null	Het
Fam20b	C	T	1: 156,533,511 (GRCm39)	R35Q	possibly damaging	Het
Fga	A	G	3: 82,940,064 (GRCm39)	I573V	probably damaging	Het
Fmo5	A	G	3: 97,542,998 (GRCm39)	K103E	possibly damaging	Het
Frem1	A	T	4: 82,924,089 (GRCm39)	V291D	probably damaging	Het
Gabbr1	A	G	17: 37,367,674 (GRCm39)		probably null	Het
Gjb6	T	C	14: 57,362,213 (GRCm39)	H16R	probably damaging	Het
Grina	T	C	15: 76,132,734 (GRCm39)	V167A	probably damaging	Het
Gulo	T	A	14: 66,246,496 (GRCm39)	M1L	probably benign	Het
Hcfc2	A	G	10: 82,574,814 (GRCm39)	N618D	probably benign	Het
Heatr5b	T	C	17: 79,121,613 (GRCm39)	D704G	probably damaging	Het
Hlcs	A	G	16: 94,063,599 (GRCm39)	V487A	probably benign	Het
Hps1	G	A	19: 42,750,951 (GRCm39)	P350S	probably benign	Het
Hspa9	A	T	18: 35,079,701 (GRCm39)	Y243N	probably damaging	Het
Igll1	A	G	16: 16,681,639 (GRCm39)	S39P	probably benign	Het
Kif21b	T	C	1: 136,076,020 (GRCm39)	F270L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt27	A	G	11: 99,240,318 (GRCm39)	V200A	probably benign	Het
Lama3	T	C	18: 12,657,778 (GRCm39)		probably benign	Het
Lmcd1	T	C	6: 112,305,702 (GRCm39)	W268R	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Mamdc4	T	A	2: 25,453,584 (GRCm39)	D1195V	probably damaging	Het
Map2	T	C	1: 66,455,295 (GRCm39)	V1395A	possibly damaging	Het
Map3k20	C	T	2: 72,268,604 (GRCm39)	T537M	probably benign	Het
Mdga1	A	G	17: 30,068,287 (GRCm39)	S276P	probably damaging	Het
Mep1a	T	C	17: 43,808,797 (GRCm39)	N85D	probably benign	Het
Mettl16	A	G	11: 74,708,195 (GRCm39)	S425G	probably benign	Het
Mthfd1l	A	G	10: 3,997,894 (GRCm39)	T622A	probably benign	Het
Nbeal2	G	A	9: 110,463,139 (GRCm39)	L1309F	probably benign	Het
Nde1	A	T	16: 13,987,321 (GRCm39)		probably benign	Het
Nhsl1	A	T	10: 18,387,340 (GRCm39)	R205W	probably damaging	Het
Nlrc5	A	G	8: 95,252,138 (GRCm39)		probably benign	Het
Notch3	C	A	17: 32,376,974 (GRCm39)	E310D	probably benign	Het
Or2f1	A	G	6: 42,721,784 (GRCm39)	E271G	probably damaging	Het
Or4p19	T	C	2: 88,242,388 (GRCm39)	T205A	probably benign	Het
Or5ak24	T	A	2: 85,260,696 (GRCm39)	H159L	possibly damaging	Het
Or7a39	T	C	10: 78,715,222 (GRCm39)	I72T	possibly damaging	Het
Osbpl5	C	A	7: 143,295,429 (GRCm39)	C11F	probably damaging	Het
P4hb	T	C	11: 120,453,522 (GRCm39)	E381G	probably damaging	Het
Pax4	A	G	6: 28,446,209 (GRCm39)	Y95H	probably benign	Het
Pdia3	T	C	2: 121,265,301 (GRCm39)	V390A	probably damaging	Het
Pigv	A	C	4: 133,390,034 (GRCm39)	D49E	possibly damaging	Het
Pik3c2a	T	A	7: 115,950,166 (GRCm39)		probably null	Het
Plxnb1	T	A	9: 108,935,687 (GRCm39)		probably benign	Het
Polq	A	G	16: 36,898,728 (GRCm39)	T2163A	probably damaging	Het
Pou5f2	T	C	13: 78,173,972 (GRCm39)	S305P	probably benign	Het
Ppm1h	A	T	10: 122,756,630 (GRCm39)	H425L	possibly damaging	Het
Ppp1r13b	G	T	12: 111,800,222 (GRCm39)	D518E	probably benign	Het
Prf1	A	T	10: 61,139,674 (GRCm39)	D544V	probably benign	Het
Prl3b1	T	C	13: 27,431,948 (GRCm39)	F158L	probably benign	Het
Prss41	C	T	17: 24,056,464 (GRCm39)		probably null	Het
Prune2	T	G	19: 17,097,887 (GRCm39)	N1130K	probably damaging	Het
Ptgdr2	T	C	19: 10,917,789 (GRCm39)	F102S	probably damaging	Het
Ptprq	T	G	10: 107,503,283 (GRCm39)	K792Q	probably damaging	Het
Pttg1ip2	T	A	5: 5,505,964 (GRCm39)	I106L	probably benign	Het
Rcbtb2	T	C	14: 73,411,826 (GRCm39)		probably benign	Het
Rgs14	C	A	13: 55,531,513 (GRCm39)	S479*	probably null	Het
Sash1	A	T	10: 8,605,177 (GRCm39)	V1071D	probably benign	Het
Sdsl	G	A	5: 120,601,218 (GRCm39)	T18M	probably damaging	Het
Sepsecs	T	A	5: 52,804,966 (GRCm39)	Q365L	probably benign	Het
Sh2d4a	A	T	8: 68,783,735 (GRCm39)	Q223L	probably damaging	Het
Slc14a2	T	C	18: 78,193,601 (GRCm39)		probably benign	Het
Slc5a9	A	C	4: 111,753,546 (GRCm39)	S52A	possibly damaging	Het
Slc6a18	C	A	13: 73,823,844 (GRCm39)	V99L	probably benign	Het
Smarca2	T	C	19: 26,661,305 (GRCm39)	S967P	possibly damaging	Het
Tbc1d22a	C	T	15: 86,183,885 (GRCm39)	T248M	probably damaging	Het
Tcte1	A	T	17: 45,852,237 (GRCm39)	N490I	probably benign	Het
Tet3	T	C	6: 83,363,057 (GRCm39)	E705G	probably damaging	Het
Tfeb	T	A	17: 48,102,484 (GRCm39)	H450Q	probably damaging	Het
Tmem248	G	A	5: 130,260,653 (GRCm39)	E73K	probably damaging	Het
Trip12	A	T	1: 84,738,587 (GRCm39)	L756*	probably null	Het
Try5	C	T	6: 41,291,585 (GRCm39)		probably null	Het
Tspear	G	A	10: 77,710,954 (GRCm39)		probably benign	Het
Ttc6	T	C	12: 57,623,003 (GRCm39)	I134T	possibly damaging	Het
Ttn	T	A	2: 76,585,640 (GRCm39)		probably null	Het
Ube3b	A	G	5: 114,549,210 (GRCm39)	E738G	probably damaging	Het
Usp36	T	C	11: 118,153,334 (GRCm39)		probably benign	Het
Vmn2r71	T	A	7: 85,269,845 (GRCm39)	M452K	probably benign	Het
Vps13b	T	C	15: 35,607,288 (GRCm39)	S1074P	probably damaging	Het
Vps13d	A	G	4: 144,835,078 (GRCm39)	S2757P	probably damaging	Het
Vwde	C	A	6: 13,208,337 (GRCm39)	G182C	possibly damaging	Het
Wdr33	T	C	18: 31,966,652 (GRCm39)	V164A	probably damaging	Het
Zkscan16	A	G	4: 58,956,525 (GRCm39)	Y269C	possibly damaging	Het
Zup1	A	G	10: 33,805,820 (GRCm39)	V437A	possibly damaging	Het

Other mutations in Tsc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Tsc1	APN	2	28,551,623 (GRCm39)	missense	probably damaging	0.98
IGL00770:Tsc1	APN	2	28,555,023 (GRCm39)	missense	probably damaging	1.00
IGL00774:Tsc1	APN	2	28,555,023 (GRCm39)	missense	probably damaging	1.00
IGL00835:Tsc1	APN	2	28,562,478 (GRCm39)	missense	possibly damaging	0.93
IGL00971:Tsc1	APN	2	28,560,952 (GRCm39)	nonsense	probably null
IGL01808:Tsc1	APN	2	28,552,519 (GRCm39)	missense	probably damaging	1.00
IGL02281:Tsc1	APN	2	28,553,607 (GRCm39)	missense	probably damaging	1.00
IGL03068:Tsc1	APN	2	28,571,270 (GRCm39)	missense	probably damaging	1.00
Cassava	UTSW	2	28,561,898 (GRCm39)	splice site	probably null
R0077:Tsc1	UTSW	2	28,568,955 (GRCm39)	splice site	probably benign
R0149:Tsc1	UTSW	2	28,560,913 (GRCm39)	missense	probably damaging	0.99
R0605:Tsc1	UTSW	2	28,561,790 (GRCm39)	missense	probably damaging	1.00
R0737:Tsc1	UTSW	2	28,560,942 (GRCm39)	missense	possibly damaging	0.94
R1199:Tsc1	UTSW	2	28,555,638 (GRCm39)	missense	probably damaging	1.00
R1751:Tsc1	UTSW	2	28,566,038 (GRCm39)	missense	probably damaging	0.97
R1757:Tsc1	UTSW	2	28,576,125 (GRCm39)	missense	probably benign	0.05
R1807:Tsc1	UTSW	2	28,576,125 (GRCm39)	missense	probably benign	0.05
R2284:Tsc1	UTSW	2	28,555,109 (GRCm39)	missense	possibly damaging	0.85
R3786:Tsc1	UTSW	2	28,577,154 (GRCm39)	missense	probably damaging	1.00
R4490:Tsc1	UTSW	2	28,560,937 (GRCm39)	missense	probably damaging	0.97
R4707:Tsc1	UTSW	2	28,562,419 (GRCm39)	missense	probably damaging	1.00
R4751:Tsc1	UTSW	2	28,569,093 (GRCm39)	missense	probably damaging	0.96
R4794:Tsc1	UTSW	2	28,551,702 (GRCm39)	splice site	probably null
R4906:Tsc1	UTSW	2	28,565,201 (GRCm39)	missense	possibly damaging	0.81
R5020:Tsc1	UTSW	2	28,566,531 (GRCm39)	missense	probably damaging	1.00
R5401:Tsc1	UTSW	2	28,576,920 (GRCm39)	nonsense	probably null
R5708:Tsc1	UTSW	2	28,555,197 (GRCm39)	intron	probably benign
R6435:Tsc1	UTSW	2	28,566,464 (GRCm39)	missense	probably benign	0.08
R6469:Tsc1	UTSW	2	28,561,898 (GRCm39)	splice site	probably null
R6502:Tsc1	UTSW	2	28,555,613 (GRCm39)	missense	probably damaging	1.00
R6617:Tsc1	UTSW	2	28,577,001 (GRCm39)	missense	possibly damaging	0.82
R7098:Tsc1	UTSW	2	28,565,744 (GRCm39)	missense	probably benign	0.00
R7503:Tsc1	UTSW	2	28,577,088 (GRCm39)	missense	possibly damaging	0.50
R7608:Tsc1	UTSW	2	28,548,748 (GRCm39)	missense	probably benign	0.01
R7677:Tsc1	UTSW	2	28,562,829 (GRCm39)	missense	probably benign	0.11
R7791:Tsc1	UTSW	2	28,571,960 (GRCm39)	missense	probably damaging	1.00
R8021:Tsc1	UTSW	2	28,576,901 (GRCm39)	missense	possibly damaging	0.67
R8203:Tsc1	UTSW	2	28,563,007 (GRCm39)	splice site	probably null
R8228:Tsc1	UTSW	2	28,566,141 (GRCm39)	missense	probably benign	0.23
R9057:Tsc1	UTSW	2	28,575,874 (GRCm39)	missense	probably damaging	1.00
R9088:Tsc1	UTSW	2	28,552,617 (GRCm39)	missense	possibly damaging	0.94
R9201:Tsc1	UTSW	2	28,576,791 (GRCm39)	missense	probably benign
R9386:Tsc1	UTSW	2	28,561,858 (GRCm39)	missense	probably benign
R9731:Tsc1	UTSW	2	28,566,486 (GRCm39)	missense	probably benign	0.00
R9780:Tsc1	UTSW	2	28,565,761 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCTTAGAGCTTTCAAAGAGGTAC -3'
(R):5'- AAGCAACCTTCCTGGGCTTC -3'

Sequencing Primer
(F):5'- GGATAGCCACTAATCGTCTTTCTGAG -3'
(R):5'- TTCCAGGCACAGGCAGTAG -3'

Posted On

2014-08-25