Mutagenetix > Incidental Mutation

Incidental Mutation 'R4618:Tsg101'

345093

Institutional Source

Beutler Lab

Gene Symbol

Tsg101

Ensembl Gene

ENSMUSG00000014402

Gene Name

tumor susceptibility gene 101

Synonyms

CC2

MMRRC Submission

041884-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4618 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46538697-46569717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46542257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 138 (I138T)

Ref Sequence

ENSEMBL: ENSMUSP00000120856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014546] [ENSMUST00000156335] [ENSMUST00000209538] [ENSMUST00000211076]

AlphaFold

Q61187

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014546
AA Change: I232T

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000014546
Gene: ENSMUSG00000014402
AA Change: I232T

Domain	Start	End	E-Value	Type
UBCc	22	177	5.96e-4	SMART
PDB:3IV1\|H	229	305	1e-43	PDB
Pfam:Vps23_core	317	380	2.5e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146130

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156335
AA Change: I138T

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120856
Gene: ENSMUSG00000014402
AA Change: I138T

Domain	Start	End	E-Value	Type
UBCc	51	206	5.96e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209538
AA Change: I94T

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000211076

Meta Mutation Damage Score

0.5809

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (89/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced growth, fail to form mesoderm, accumulate p53 protein and die by embryonic day 6.5. Homozygotes for a mammary gland-specific knockout show impaired mammogenesis and are unable to nurse their pups. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	T	3: 121,473,095 (GRCm39)	K83N	unknown	Het
Adamtsl3	T	A	7: 82,255,728 (GRCm39)	M1580K	probably benign	Het
Adprhl1	A	G	8: 13,292,250 (GRCm39)		probably null	Het
Akap3	G	T	6: 126,843,406 (GRCm39)	C675F	probably benign	Het
Asap1	A	T	15: 64,024,744 (GRCm39)	H318Q	probably damaging	Het
Atf7ip	G	T	6: 136,542,104 (GRCm39)	A18S	probably damaging	Het
Bcl2a1a	A	C	9: 88,839,357 (GRCm39)	N85T	probably damaging	Het
Btnl6	G	A	17: 34,733,120 (GRCm39)	P248S	probably damaging	Het
C9	A	G	15: 6,520,944 (GRCm39)	D51G	probably damaging	Het
Ccdc14	T	A	16: 34,526,865 (GRCm39)	C257S	probably benign	Het
Cd5l	A	G	3: 87,275,926 (GRCm39)	T299A	probably benign	Het
Cstdc3	T	A	16: 36,132,952 (GRCm39)	D76E	possibly damaging	Het
Endou	C	T	15: 97,611,763 (GRCm39)	V292M	possibly damaging	Het
Fbxo36	T	C	1: 84,877,749 (GRCm39)	I137T	probably damaging	Het
Fcer1a	T	C	1: 173,050,208 (GRCm39)	I161V	possibly damaging	Het
Fsip2	A	G	2: 82,818,103 (GRCm39)	Y4612C	probably benign	Het
Gcnt2	T	A	13: 41,111,670 (GRCm39)	L353*	probably null	Het
Ghrhr	T	C	6: 55,358,739 (GRCm39)	F172S	probably damaging	Het
Gins1	T	A	2: 150,759,781 (GRCm39)		probably null	Het
Gm16519	T	G	17: 71,236,237 (GRCm39)	L62R	probably damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Greb1l	A	G	18: 10,498,965 (GRCm39)	T283A	probably benign	Het
Grin2c	T	A	11: 115,143,573 (GRCm39)	D729V	probably damaging	Het
Heatr4	T	G	12: 84,024,841 (GRCm39)	T327P	probably damaging	Het
Hes2	A	C	4: 152,244,845 (GRCm39)	S105R	probably benign	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Itih1	A	T	14: 30,651,788 (GRCm39)	D851E	probably benign	Het
Klhdc7b	A	G	15: 89,271,472 (GRCm39)	T785A	probably benign	Het
Lmbr1	G	T	5: 29,551,863 (GRCm39)	A74E	probably damaging	Het
Lonp1	A	C	17: 56,929,511 (GRCm39)	H175Q	probably benign	Het
Maml2	T	C	9: 13,531,371 (GRCm39)	F195S	probably damaging	Het
Man2b2	G	T	5: 36,974,983 (GRCm39)	T436K	probably benign	Het
Man2c1	T	C	9: 57,049,439 (GRCm39)		probably null	Het
Mrps15	G	A	4: 125,940,837 (GRCm39)		probably benign	Het
Mtrf1l	C	A	10: 5,767,586 (GRCm39)	V177F	probably benign	Het
Naxd	A	T	8: 11,559,489 (GRCm39)	I213F	probably damaging	Het
Nbeal1	T	A	1: 60,267,890 (GRCm39)		probably benign	Het
Nfatc1	T	C	18: 80,741,047 (GRCm39)	I318V	probably damaging	Het
Nid2	T	A	14: 19,858,078 (GRCm39)	I1297N	probably damaging	Het
Nol10	T	C	12: 17,398,562 (GRCm39)	V3A	probably damaging	Het
Nop14	G	T	5: 34,796,562 (GRCm39)	P765Q	probably damaging	Het
Noxa1	C	T	2: 24,981,761 (GRCm39)	G114D	probably damaging	Het
Ntmt2	A	T	1: 163,552,597 (GRCm39)	F10I	probably damaging	Het
Opa1	T	C	16: 29,405,857 (GRCm39)	W141R	probably damaging	Het
Or10a2	G	A	7: 106,673,761 (GRCm39)	C242Y	probably damaging	Het
Or13p4	A	T	4: 118,546,667 (GRCm39)		probably benign	Het
Or5d18	A	G	2: 87,864,898 (GRCm39)	V195A	probably benign	Het
Or8h10	A	G	2: 86,808,618 (GRCm39)	I174T	possibly damaging	Het
Pde4d	A	T	13: 110,070,411 (GRCm39)	M7L	probably benign	Het
Phykpl	G	A	11: 51,483,056 (GRCm39)	A188T	probably damaging	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Pkhd1l1	T	A	15: 44,403,078 (GRCm39)	V2260D	probably damaging	Het
Ptprt	T	C	2: 161,395,765 (GRCm39)	E1136G	probably damaging	Het
Rad21	A	T	15: 51,833,420 (GRCm39)	L353Q	probably damaging	Het
Rfx4	G	T	10: 84,716,760 (GRCm39)	A425S	probably benign	Het
Rnf38	A	G	4: 44,142,450 (GRCm39)	S169P	probably damaging	Het
Samd9l	C	A	6: 3,376,347 (GRCm39)	V305F	probably damaging	Het
Serpini1	A	G	3: 75,523,883 (GRCm39)	K164E	probably benign	Het
Sirt6	A	G	10: 81,462,408 (GRCm39)	L37P	probably damaging	Het
Sorbs1	T	C	19: 40,361,962 (GRCm39)	T141A	probably damaging	Het
Tacc2	A	T	7: 130,227,946 (GRCm39)	T1563S	probably benign	Het
Tbc1d14	A	C	5: 36,687,725 (GRCm39)		probably benign	Het
Tbrg4	G	A	11: 6,570,185 (GRCm39)		probably benign	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Tpp1	A	T	7: 105,400,913 (GRCm39)	L38Q	probably benign	Het
Trhr	A	G	15: 44,061,037 (GRCm39)	N186D	probably benign	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Tsen54	T	A	11: 115,706,247 (GRCm39)		probably benign	Het
Usp22	A	G	11: 61,052,269 (GRCm39)	S237P	probably damaging	Het
Vmn1r209	A	G	13: 22,990,619 (GRCm39)	S24P	possibly damaging	Het
Vmn2r18	A	T	5: 151,508,424 (GRCm39)	H233Q	possibly damaging	Het
Vmn2r45	A	T	7: 8,486,436 (GRCm39)	I284N	probably benign	Het
Vmn2r66	T	C	7: 84,644,296 (GRCm39)	I705V	possibly damaging	Het
Vsig1	G	T	X: 139,827,135 (GRCm39)	A95S	probably benign	Het
Zdhhc11	T	A	13: 74,127,349 (GRCm39)	M242K	probably benign	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het

Other mutations in Tsg101

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Tsg101	APN	7	46,558,673 (GRCm39)	missense	probably damaging	1.00
IGL01505:Tsg101	APN	7	46,558,808 (GRCm39)	missense	probably damaging	1.00
R1183:Tsg101	UTSW	7	46,539,372 (GRCm39)	missense	probably benign	0.23
R1558:Tsg101	UTSW	7	46,539,437 (GRCm39)	missense	probably damaging	1.00
R1560:Tsg101	UTSW	7	46,542,208 (GRCm39)	splice site	probably null
R1779:Tsg101	UTSW	7	46,556,835 (GRCm39)	missense	probably benign	0.00
R2015:Tsg101	UTSW	7	46,558,652 (GRCm39)	critical splice donor site	probably null
R2329:Tsg101	UTSW	7	46,540,868 (GRCm39)	missense	probably damaging	1.00
R3773:Tsg101	UTSW	7	46,539,363 (GRCm39)	makesense	probably null
R4108:Tsg101	UTSW	7	46,542,242 (GRCm39)	missense	probably damaging	1.00
R5162:Tsg101	UTSW	7	46,542,174 (GRCm39)	missense	probably damaging	1.00
R5380:Tsg101	UTSW	7	46,540,868 (GRCm39)	missense	probably damaging	1.00
R5537:Tsg101	UTSW	7	46,540,876 (GRCm39)	missense	probably benign	0.02
R6939:Tsg101	UTSW	7	46,556,847 (GRCm39)	missense	probably benign	0.00
R7555:Tsg101	UTSW	7	46,563,159 (GRCm39)	missense	probably damaging	1.00
R7752:Tsg101	UTSW	7	46,563,183 (GRCm39)	missense	probably benign	0.01
R7901:Tsg101	UTSW	7	46,563,183 (GRCm39)	missense	probably benign	0.01
R7951:Tsg101	UTSW	7	46,540,891 (GRCm39)	missense	probably benign	0.38
R8052:Tsg101	UTSW	7	46,542,257 (GRCm39)	missense	probably damaging	0.96
R8329:Tsg101	UTSW	7	46,558,808 (GRCm39)	missense	probably damaging	1.00
R8524:Tsg101	UTSW	7	46,542,115 (GRCm39)	missense	probably benign	0.01
R9455:Tsg101	UTSW	7	46,563,151 (GRCm39)	missense	probably damaging	1.00
R9467:Tsg101	UTSW	7	46,558,772 (GRCm39)	missense	probably benign	0.10
R9523:Tsg101	UTSW	7	46,542,308 (GRCm39)	missense	possibly damaging	0.69
X0063:Tsg101	UTSW	7	46,539,379 (GRCm39)	missense	probably damaging	1.00
Z1177:Tsg101	UTSW	7	46,540,684 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCACGATGTTTTCAGTGC -3'
(R):5'- TCCGCTTATGGTATGTGCTC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CTAGCGTTCTGTAGAAGGATTGACAC -3'

Posted On

2015-09-25