Mutagenetix > Incidental Mutation

Incidental Mutation 'R7555:Tsg101'

584696

Institutional Source

Beutler Lab

Gene Symbol

Tsg101

Ensembl Gene

ENSMUSG00000014402

Gene Name

tumor susceptibility gene 101

Synonyms

CC2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7555 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46888949-46919969 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46913411 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 32 (Y32H)

Ref Sequence

ENSEMBL: ENSMUSP00000014546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014546] [ENSMUST00000143413] [ENSMUST00000156335] [ENSMUST00000209538] [ENSMUST00000210664] [ENSMUST00000211076]

AlphaFold

Q61187

Predicted Effect

probably damaging
Transcript: ENSMUST00000014546
AA Change: Y32H

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

SMART Domains

Protein: ENSMUSP00000014546
Gene: ENSMUSG00000014402
AA Change: Y32H

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

probably damaging
Transcript: ENSMUST00000143413
AA Change: Y32H

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

SMART Domains

Protein: ENSMUSP00000121314
Gene: ENSMUSG00000014402
AA Change: Y32H

Domain	Start	End	E-Value	Type
UBCc	17	138	1.05e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156335

SMART Domains

Protein: ENSMUSP00000120856
Gene: ENSMUSG00000014402

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209538

Predicted Effect

probably damaging
Transcript: ENSMUST00000210664
AA Change: Y32H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211076
AA Change: Y32H

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

Meta Mutation Damage Score

0.8900

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (83/83)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	T	A	4: 144,522,354	I97N	probably damaging	Het
Acvrl1	A	G	15: 101,143,473	H502R	probably benign	Het
Adgrf4	T	C	17: 42,672,603	S63G	probably benign	Het
Agbl2	C	A	2: 90,791,555	L129I	probably damaging	Het
Ankrd11	C	A	8: 122,887,406	A2542S	probably damaging	Het
Armc9	A	G	1: 86,275,678	K818R	probably damaging	Het
Arsj	T	A	3: 126,438,236	C210*	probably null	Het
Aspscr1	C	T	11: 120,673,100	A11V	unknown	Het
Bicc1	G	T	10: 70,956,291	Q296K	possibly damaging	Het
Borcs5	A	C	6: 134,685,979	Q73P	probably benign	Het
Capn15	G	T	17: 25,963,432	D567E	probably damaging	Het
Catsperg1	A	C	7: 29,189,814	I866S	probably damaging	Het
Ccdc27	G	T	4: 154,041,817	H72N	unknown	Het
Ccser2	A	T	14: 36,879,500	M309K	possibly damaging	Het
Cd1d2	A	G	3: 86,987,101	S59G	probably benign	Het
Chml	G	A	1: 175,687,890	P155L	probably benign	Het
Csmd2	C	T	4: 128,452,458	P1504S		Het
Dcbld2	A	G	16: 58,448,718		probably null	Het
Ddx21	C	T	10: 62,598,243	E246K	probably benign	Het
Dhx29	C	T	13: 112,927,642		probably benign	Het
Dis3l	A	C	9: 64,311,937	Y570*	probably null	Het
Dnah14	T	A	1: 181,770,054	Y3623N	probably benign	Het
Dock8	A	G	19: 25,175,400	D1610G	probably damaging	Het
Dync1h1	T	C	12: 110,630,625	S1669P	probably benign	Het
Eif2ak4	T	A	2: 118,417,283	I267N	possibly damaging	Het
Ern2	A	T	7: 122,170,241	V854E	probably damaging	Het
Fuca2	G	A	10: 13,507,430		probably null	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Gm1110	T	A	9: 26,893,628	T380S	probably benign	Het
Gm13128	T	C	4: 144,332,741	F341L	probably benign	Het
Gm5788	A	C	12: 87,494,735	K5N	unknown	Het
Gm6460	A	T	5: 11,597,612	N106Y	probably damaging	Het
Golga2	G	A	2: 32,288,166	R29H	probably benign	Het
Grik5	T	C	7: 25,060,597	E259G	probably benign	Het
Grm3	T	C	5: 9,570,000	T415A	probably benign	Het
Gtf3c1	A	G	7: 125,645,670	Y1731H	probably damaging	Het
Hectd2	T	C	19: 36,612,403	C643R	probably damaging	Het
Hgfac	T	C	5: 35,042,628	S118P	probably damaging	Het
Hmcn1	A	G	1: 150,604,874	V4517A	probably benign	Het
Hnrnpc	A	T	14: 52,075,153	L290*	probably null	Het
Homer3	A	G	8: 70,289,413	E108G	probably damaging	Het
Hsd17b3	G	T	13: 64,072,002	S141R	probably benign	Het
Hspa12b	C	T	2: 131,138,476	T105I	probably damaging	Het
Ifi202b	T	C	1: 173,972,221	I231M	probably damaging	Het
Inhba	T	A	13: 16,017,637	N114K	probably benign	Het
Kmt2b	C	A	7: 30,569,410	M2631I	possibly damaging	Het
Loxhd1	C	T	18: 77,395,365	T1214I	probably damaging	Het
Lrp1	G	T	10: 127,546,862	N3683K	probably damaging	Het
Lrrc8e	A	G	8: 4,234,363	K196R	probably benign	Het
Lrrn3	A	T	12: 41,452,911	M469K	probably benign	Het
Mafb	T	C	2: 160,365,829	E283G	probably damaging	Het
Mapt	C	A	11: 104,298,702	P182Q	probably benign	Het
Mmp14	G	T	14: 54,437,742	R277L	possibly damaging	Het
Mucl2	T	A	15: 103,897,445	N82I	probably benign	Het
Nsun6	T	A	2: 14,996,339	T469S	possibly damaging	Het
Olfr1076	A	C	2: 86,509,347	D296A	probably damaging	Het
Olfr1342	T	C	4: 118,689,642	D270G	possibly damaging	Het
Olfr507	G	C	7: 108,622,726	A305P	probably damaging	Het
Osbpl5	A	T	7: 143,694,933	F631I	possibly damaging	Het
Otud3	G	T	4: 138,901,885	D190E	possibly damaging	Het
Pcdhb6	A	T	18: 37,335,279	I418F	possibly damaging	Het
Per1	G	A	11: 69,106,513	R838H	probably damaging	Het
Per2	G	A	1: 91,435,135	P395S	probably damaging	Het
Per3	G	A	4: 151,018,058	Q583*	probably null	Het
Pkhd1l1	A	T	15: 44,550,761	H2808L	possibly damaging	Het
Ppfia2	A	G	10: 106,927,826	T1227A	probably benign	Het
Psg17	C	T	7: 18,817,094	D279N	probably benign	Het
Rnf167	A	G	11: 70,650,797	D235G	probably benign	Het
Rxfp3	A	G	15: 11,036,276	S337P	probably damaging	Het
Sall1	T	C	8: 89,033,158	D106G	possibly damaging	Het
Sema4f	A	G	6: 82,914,056	V590A	probably benign	Het
Setd1b	A	G	5: 123,157,757	D1102G	unknown	Het
Six2	C	A	17: 85,687,707	K82N	probably damaging	Het
Snx29	T	C	16: 11,400,942	M214T	probably benign	Het
Son	T	C	16: 91,658,922	L1519P	probably damaging	Het
Spin1	C	T	13: 51,149,049	S226L	probably benign	Het
Stxbp5l	T	C	16: 37,323,603	D131G	probably damaging	Het
Svep1	T	C	4: 58,069,422	Y2788C	probably damaging	Het
Tbl3	C	A	17: 24,701,976		probably null	Het
Themis	A	T	10: 28,781,702	I242L	possibly damaging	Het
Tmem203	G	A	2: 25,255,730	V21M	probably benign	Het
Trp53inp1	T	C	4: 11,169,750	C171R	probably benign	Het
Tyw1	A	G	5: 130,274,706	D305G	probably damaging	Het
Vmn1r40	A	T	6: 89,715,044	Y281F	probably damaging	Het
Vmn2r105	T	A	17: 20,227,675	T296S	probably damaging	Het
Vmn2r13	T	C	5: 109,171,691		probably null	Het
Zfp933	A	G	4: 147,826,132	F336L	probably damaging	Het

Other mutations in Tsg101

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Tsg101	APN	7	46908925	missense	probably damaging	1.00
IGL01505:Tsg101	APN	7	46909060	missense	probably damaging	1.00
R1183:Tsg101	UTSW	7	46889624	missense	probably benign	0.23
R1558:Tsg101	UTSW	7	46889689	missense	probably damaging	1.00
R1560:Tsg101	UTSW	7	46892460	splice site	probably null
R1779:Tsg101	UTSW	7	46907087	missense	probably benign	0.00
R2015:Tsg101	UTSW	7	46908904	critical splice donor site	probably null
R2329:Tsg101	UTSW	7	46891120	missense	probably damaging	1.00
R3773:Tsg101	UTSW	7	46889615	makesense	probably null
R4108:Tsg101	UTSW	7	46892494	missense	probably damaging	1.00
R4618:Tsg101	UTSW	7	46892509	missense	possibly damaging	0.76
R5162:Tsg101	UTSW	7	46892426	missense	probably damaging	1.00
R5380:Tsg101	UTSW	7	46891120	missense	probably damaging	1.00
R5537:Tsg101	UTSW	7	46891128	missense	probably benign	0.02
R6939:Tsg101	UTSW	7	46907099	missense	probably benign	0.00
R7752:Tsg101	UTSW	7	46913435	missense	probably benign	0.01
R7901:Tsg101	UTSW	7	46913435	missense	probably benign	0.01
R7951:Tsg101	UTSW	7	46891143	missense	probably benign	0.38
R8052:Tsg101	UTSW	7	46892509	missense	probably damaging	0.96
R8329:Tsg101	UTSW	7	46909060	missense	probably damaging	1.00
R8524:Tsg101	UTSW	7	46892367	missense	probably benign	0.01
R9455:Tsg101	UTSW	7	46913403	missense	probably damaging	1.00
R9467:Tsg101	UTSW	7	46909024	missense	probably benign	0.10
R9523:Tsg101	UTSW	7	46892560	missense	possibly damaging	0.69
X0063:Tsg101	UTSW	7	46889631	missense	probably damaging	1.00
Z1177:Tsg101	UTSW	7	46890936	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGTTAGGTGGAAACTCAAC -3'
(R):5'- GTCCCCTTAGGCTTTAATGTTAATG -3'

Sequencing Primer
(F):5'- GTGGAAACTCAACCCTTCAGTTGG -3'
(R):5'- ATCTCTGTGAGTTTGAGAACAGCCAG -3'

Posted On

2019-10-17