Mutagenetix > Incidental Mutation

Incidental Mutation 'R7901:Tsg101'

609987

Institutional Source

Beutler Lab

Gene Symbol

Tsg101

Ensembl Gene

ENSMUSG00000014402

Gene Name

tumor susceptibility gene 101

Synonyms

CC2

MMRRC Submission

045953-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7901 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46538697-46569717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46563183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 24 (Q24K)

Ref Sequence

ENSEMBL: ENSMUSP00000014546 (fasta)

Gene Model

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

AlphaFold

Q61187

Predicted Effect

probably benign
Transcript: ENSMUST00000014546
AA Change: Q24K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000014546
Gene: ENSMUSG00000014402
AA Change: Q24K

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 benign
Transcript: ENSMUST00000143413
AA Change: Q24K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121314
Gene: ENSMUSG00000014402
AA Change: Q24K

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 benign
Transcript: ENSMUST00000210664
AA Change: Q24K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000211076
AA Change: Q24K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

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

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,119,434 (GRCm39)		probably null	Het
Adpgk	T	C	9: 59,222,300 (GRCm39)	V409A	probably benign	Het
Agfg2	A	T	5: 137,665,966 (GRCm39)	F98I	probably damaging	Het
Arhgap17	A	T	7: 122,885,791 (GRCm39)		probably benign	Het
Asb8	T	C	15: 98,040,614 (GRCm39)	Y16C	probably damaging	Het
Atp6v0a2	C	T	5: 124,779,485 (GRCm39)	T200I	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccnt1	A	T	15: 98,441,797 (GRCm39)	D490E	probably benign	Het
Cenpf	G	T	1: 189,389,445 (GRCm39)	D1462E	probably damaging	Het
Clcn6	C	T	4: 148,095,202 (GRCm39)	R736H	probably damaging	Het
Col4a2	A	T	8: 11,479,358 (GRCm39)	D747V	probably benign	Het
Cplane1	A	G	15: 8,299,190 (GRCm39)	E3126G	unknown	Het
Crybg3	T	C	16: 59,377,907 (GRCm39)	T1116A	probably damaging	Het
Csf1r	T	A	18: 61,243,368 (GRCm39)	L128Q	probably damaging	Het
Ddx17	A	T	15: 79,422,789 (GRCm39)	D316E	probably damaging	Het
Ect2l	T	A	10: 18,017,712 (GRCm39)	D681V	possibly damaging	Het
Ell2	A	T	13: 75,912,105 (GRCm39)	K464*	probably null	Het
Eme1	G	T	11: 94,541,645 (GRCm39)	P59Q	probably damaging	Het
Etl4	T	C	2: 20,294,821 (GRCm39)	S2P	possibly damaging	Het
Fndc9	T	C	11: 46,128,576 (GRCm39)	Y32H	probably damaging	Het
Frem1	G	T	4: 82,877,614 (GRCm39)	T1321K	probably benign	Het
Gabrg2	A	G	11: 41,867,418 (GRCm39)	V67A	probably benign	Het
Gm4553	ACAGCAGCTGGACTGACAGCAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG	ACAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG	7: 141,718,602 (GRCm39)		probably benign	Het
Gm5145	A	C	17: 20,790,900 (GRCm39)	I93L	possibly damaging	Het
Gpld1	T	A	13: 25,146,758 (GRCm39)	V240E	probably damaging	Het
Gsc	T	A	12: 104,439,131 (GRCm39)	S82C	possibly damaging	Het
H2-T10	C	T	17: 36,431,143 (GRCm39)	E173K	probably benign	Het
Ifi213	A	T	1: 173,394,784 (GRCm39)	S584T	probably benign	Het
Klk1b1	T	C	7: 43,620,669 (GRCm39)	I253T	probably damaging	Het
Klra4	A	G	6: 130,040,113 (GRCm39)	L53P	probably damaging	Het
Lct	A	G	1: 128,216,722 (GRCm39)	Y1697H	probably benign	Het
Mrs2	T	A	13: 25,202,549 (GRCm39)	D64V	possibly damaging	Het
Muc13	A	G	16: 33,636,211 (GRCm39)	Q565R	probably damaging	Het
Nlrp6	T	C	7: 140,507,353 (GRCm39)	V873A	possibly damaging	Het
Nup155	C	T	15: 8,145,926 (GRCm39)	P159L	possibly damaging	Het
Or10v1	A	T	19: 11,873,898 (GRCm39)	H171L	probably benign	Het
Or4m1	A	T	14: 50,557,573 (GRCm39)	S240T	probably damaging	Het
Or51a6	T	C	7: 102,604,887 (GRCm39)		probably null	Het
Phip	T	G	9: 82,772,203 (GRCm39)	M1115L	probably benign	Het
Ppip5k1	T	C	2: 121,142,390 (GRCm39)	Q1353R	probably damaging	Het
Ptprb	C	G	10: 116,205,333 (GRCm39)	P1896A	probably benign	Het
Rgl2	T	C	17: 34,154,799 (GRCm39)	L601P	possibly damaging	Het
Sash1	C	T	10: 8,656,328 (GRCm39)	W221*	probably null	Het
Skint1	A	C	4: 111,876,399 (GRCm39)	T107P	probably damaging	Het
Slc45a4	G	A	15: 73,477,621 (GRCm39)		probably benign	Het
Snx13	T	A	12: 35,150,624 (GRCm39)	D309E	probably benign	Het
Spcs1	A	G	14: 30,722,628 (GRCm39)	Y64H	probably benign	Het
Tep1	A	T	14: 51,064,308 (GRCm39)	Y2434N	possibly damaging	Het
Tnpo3	T	C	6: 29,568,990 (GRCm39)	E454G	possibly damaging	Het
Ttc6	C	T	12: 57,735,353 (GRCm39)	R1132W	probably damaging	Het
Unkl	T	C	17: 25,437,627 (GRCm39)	S200P	probably damaging	Het
Uts2r	G	A	11: 121,052,234 (GRCm39)	S366N	probably benign	Het
Wbp4	A	T	14: 79,709,845 (GRCm39)	V130E	probably damaging	Het
Zfp592	T	G	7: 80,674,469 (GRCm39)	S478A	probably benign	Het
Zfp664	A	T	5: 124,962,839 (GRCm39)	K78*	probably null	Het
Zfp738	A	T	13: 67,821,110 (GRCm39)	L79*	probably null	Het
Zfyve28	C	T	5: 34,382,326 (GRCm39)	R258Q	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
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
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'- CTCAACCCTTCAGTTGGAAATCC -3'
(R):5'- GGTCCCCTTAGGCTTTAATGTTAATG -3'

Sequencing Primer
(F):5'- TGGAAATCCAACAAACTGCAAAGG -3'
(R):5'- GTGGTAGTTCACACTTTTAATCCCAG -3'

Posted On

2019-12-20