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

045623-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7555 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46538697-46569717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46563159 bp (GRCm39)

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
Aadacl4fm1	T	A	4: 144,248,924 (GRCm39)	I97N	probably damaging	Het
Acvrl1	A	G	15: 101,041,354 (GRCm39)	H502R	probably benign	Het
Adgrf4	T	C	17: 42,983,494 (GRCm39)	S63G	probably benign	Het
Agbl2	C	A	2: 90,621,899 (GRCm39)	L129I	probably damaging	Het
Ankrd11	C	A	8: 123,614,145 (GRCm39)	A2542S	probably damaging	Het
Armc9	A	G	1: 86,203,400 (GRCm39)	K818R	probably damaging	Het
Arsj	T	A	3: 126,231,885 (GRCm39)	C210*	probably null	Het
Aspscr1	C	T	11: 120,563,926 (GRCm39)	A11V	unknown	Het
Bicc1	G	T	10: 70,792,121 (GRCm39)	Q296K	possibly damaging	Het
Borcs5	A	C	6: 134,662,942 (GRCm39)	Q73P	probably benign	Het
Capn15	G	T	17: 26,182,406 (GRCm39)	D567E	probably damaging	Het
Catsperg1	A	C	7: 28,889,239 (GRCm39)	I866S	probably damaging	Het
Ccdc27	G	T	4: 154,126,274 (GRCm39)	H72N	unknown	Het
Ccser2	A	T	14: 36,601,457 (GRCm39)	M309K	possibly damaging	Het
Cd1d2	A	G	3: 86,894,408 (GRCm39)	S59G	probably benign	Het
Chml	G	A	1: 175,515,456 (GRCm39)	P155L	probably benign	Het
Csmd2	C	T	4: 128,346,251 (GRCm39)	P1504S		Het
Dcbld2	A	G	16: 58,269,081 (GRCm39)		probably null	Het
Ddx21	C	T	10: 62,434,022 (GRCm39)	E246K	probably benign	Het
Dhx29	C	T	13: 113,064,176 (GRCm39)		probably benign	Het
Dis3l	A	C	9: 64,219,219 (GRCm39)	Y570*	probably null	Het
Dnah14	T	A	1: 181,597,619 (GRCm39)	Y3623N	probably benign	Het
Dock8	A	G	19: 25,152,764 (GRCm39)	D1610G	probably damaging	Het
Dync1h1	T	C	12: 110,597,059 (GRCm39)	S1669P	probably benign	Het
Eif1ad12	A	C	12: 87,541,505 (GRCm39)	K5N	unknown	Het
Eif2ak4	T	A	2: 118,247,764 (GRCm39)	I267N	possibly damaging	Het
Ern2	A	T	7: 121,769,464 (GRCm39)	V854E	probably damaging	Het
Fuca2	G	A	10: 13,383,174 (GRCm39)		probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm1110	T	A	9: 26,804,924 (GRCm39)	T380S	probably benign	Het
Golga2	G	A	2: 32,178,178 (GRCm39)	R29H	probably benign	Het
Grik5	T	C	7: 24,760,022 (GRCm39)	E259G	probably benign	Het
Grm3	T	C	5: 9,620,000 (GRCm39)	T415A	probably benign	Het
Gtf3c1	A	G	7: 125,244,842 (GRCm39)	Y1731H	probably damaging	Het
Hectd2	T	C	19: 36,589,803 (GRCm39)	C643R	probably damaging	Het
Hgfac	T	C	5: 35,199,972 (GRCm39)	S118P	probably damaging	Het
Hmcn1	A	G	1: 150,480,625 (GRCm39)	V4517A	probably benign	Het
Hnrnpc	A	T	14: 52,312,610 (GRCm39)	L290*	probably null	Het
Homer3	A	G	8: 70,742,063 (GRCm39)	E108G	probably damaging	Het
Hsd17b3	G	T	13: 64,219,816 (GRCm39)	S141R	probably benign	Het
Hspa12b	C	T	2: 130,980,396 (GRCm39)	T105I	probably damaging	Het
Ifi202b	T	C	1: 173,799,787 (GRCm39)	I231M	probably damaging	Het
Inhba	T	A	13: 16,192,222 (GRCm39)	N114K	probably benign	Het
Kmt2b	C	A	7: 30,268,835 (GRCm39)	M2631I	possibly damaging	Het
Loxhd1	C	T	18: 77,483,061 (GRCm39)	T1214I	probably damaging	Het
Lrp1	G	T	10: 127,382,731 (GRCm39)	N3683K	probably damaging	Het
Lrrc8e	A	G	8: 4,284,363 (GRCm39)	K196R	probably benign	Het
Lrrn3	A	T	12: 41,502,910 (GRCm39)	M469K	probably benign	Het
Mafb	T	C	2: 160,207,749 (GRCm39)	E283G	probably damaging	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mmp14	G	T	14: 54,675,199 (GRCm39)	R277L	possibly damaging	Het
Mucl2	T	A	15: 103,927,711 (GRCm39)	N82I	probably benign	Het
Nsun6	T	A	2: 15,001,150 (GRCm39)	T469S	possibly damaging	Het
Or13p4	T	C	4: 118,546,839 (GRCm39)	D270G	possibly damaging	Het
Or5p79	G	C	7: 108,221,933 (GRCm39)	A305P	probably damaging	Het
Or8k30	A	C	2: 86,339,691 (GRCm39)	D296A	probably damaging	Het
Osbpl5	A	T	7: 143,248,670 (GRCm39)	F631I	possibly damaging	Het
Otud3	G	T	4: 138,629,196 (GRCm39)	D190E	possibly damaging	Het
Pcdhb6	A	T	18: 37,468,332 (GRCm39)	I418F	possibly damaging	Het
Per1	G	A	11: 68,997,339 (GRCm39)	R838H	probably damaging	Het
Per2	G	A	1: 91,362,857 (GRCm39)	P395S	probably damaging	Het
Per3	G	A	4: 151,102,515 (GRCm39)	Q583*	probably null	Het
Pkhd1l1	A	T	15: 44,414,157 (GRCm39)	H2808L	possibly damaging	Het
Ppfia2	A	G	10: 106,763,687 (GRCm39)	T1227A	probably benign	Het
Pramel30	T	C	4: 144,059,311 (GRCm39)	F341L	probably benign	Het
Psg17	C	T	7: 18,551,019 (GRCm39)	D279N	probably benign	Het
Rnf167	A	G	11: 70,541,623 (GRCm39)	D235G	probably benign	Het
Rxfp3	A	G	15: 11,036,362 (GRCm39)	S337P	probably damaging	Het
Sall1	T	C	8: 89,759,786 (GRCm39)	D106G	possibly damaging	Het
Sema4f	A	G	6: 82,891,037 (GRCm39)	V590A	probably benign	Het
Setd1b	A	G	5: 123,295,820 (GRCm39)	D1102G	unknown	Het
Six2	C	A	17: 85,995,135 (GRCm39)	K82N	probably damaging	Het
Snx29	T	C	16: 11,218,806 (GRCm39)	M214T	probably benign	Het
Son	T	C	16: 91,455,810 (GRCm39)	L1519P	probably damaging	Het
Speer1h	A	T	5: 11,647,579 (GRCm39)	N106Y	probably damaging	Het
Spin1	C	T	13: 51,303,085 (GRCm39)	S226L	probably benign	Het
Stxbp5l	T	C	16: 37,143,965 (GRCm39)	D131G	probably damaging	Het
Svep1	T	C	4: 58,069,422 (GRCm39)	Y2788C	probably damaging	Het
Tbl3	C	A	17: 24,920,950 (GRCm39)		probably null	Het
Themis	A	T	10: 28,657,698 (GRCm39)	I242L	possibly damaging	Het
Tmem203	G	A	2: 25,145,742 (GRCm39)	V21M	probably benign	Het
Trp53inp1	T	C	4: 11,169,750 (GRCm39)	C171R	probably benign	Het
Tyw1	A	G	5: 130,303,547 (GRCm39)	D305G	probably damaging	Het
Vmn1r40	A	T	6: 89,692,026 (GRCm39)	Y281F	probably damaging	Het
Vmn2r105	T	A	17: 20,447,937 (GRCm39)	T296S	probably damaging	Het
Vmn2r13	T	C	5: 109,319,557 (GRCm39)		probably null	Het
Zfp933	A	G	4: 147,910,589 (GRCm39)	F336L	probably damaging	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
R4618:Tsg101	UTSW	7	46,542,257 (GRCm39)	missense	possibly damaging	0.76
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
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'- AGCTGTTAGGTGGAAACTCAAC -3'
(R):5'- GTCCCCTTAGGCTTTAATGTTAATG -3'

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

Posted On

2019-10-17