Mutagenetix > Incidental Mutation

Incidental Mutation 'R6939:Tsg101'

540433

Institutional Source

Beutler Lab

Gene Symbol

Tsg101

Ensembl Gene

ENSMUSG00000014402

Gene Name

tumor susceptibility gene 101

Synonyms

CC2

MMRRC Submission

045053-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46538697-46569717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46556847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 61 (T61A)

Ref Sequence

ENSEMBL: ENSMUSP00000147748 (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: T146A

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

SMART Domains

Protein: ENSMUSP00000014546
Gene: ENSMUSG00000014402
AA Change: T146A

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: T124A

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

SMART Domains

Protein: ENSMUSP00000121314
Gene: ENSMUSG00000014402
AA Change: T124A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156335
AA Change: T52A

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

SMART Domains

Protein: ENSMUSP00000120856
Gene: ENSMUSG00000014402
AA Change: T52A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209538
AA Change: T61A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210664
AA Change: T111A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000211076

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	G	A	15: 60,792,244 (GRCm39)	P128L	probably damaging	Het
Acsm3	T	C	7: 119,377,678 (GRCm39)	V401A	probably damaging	Het
Arhgef11	C	A	3: 87,594,227 (GRCm39)	N93K	probably damaging	Het
C1ra	G	A	6: 124,489,760 (GRCm39)		probably null	Het
Camk2a	A	G	18: 61,091,226 (GRCm39)	E236G	probably damaging	Het
Cav2	C	A	6: 17,281,410 (GRCm39)	D17E	possibly damaging	Het
Ccdc149	T	C	5: 52,533,607 (GRCm39)	S520G	probably benign	Het
Chd4	C	A	6: 125,083,501 (GRCm39)	H674Q	probably damaging	Het
Clrn2	A	T	5: 45,611,096 (GRCm39)		probably benign	Het
Cntnap1	A	C	11: 101,077,337 (GRCm39)	I1000L	probably damaging	Het
Cyp2c67	T	C	19: 39,631,778 (GRCm39)	T140A	possibly damaging	Het
D7Ertd443e	T	C	7: 133,966,208 (GRCm39)		probably null	Het
Dcdc2c	G	T	12: 28,591,496 (GRCm39)	Q131K	probably benign	Het
Dmpk	T	A	7: 18,822,149 (GRCm39)	V369E	probably damaging	Het
Dnah11	A	T	12: 118,070,297 (GRCm39)	W1503R	probably damaging	Het
Dnai7	A	G	6: 145,120,945 (GRCm39)	F625L	possibly damaging	Het
Dok2	T	C	14: 71,013,045 (GRCm39)	V71A	probably benign	Het
Dqx1	A	T	6: 83,036,446 (GRCm39)	Q150L	probably damaging	Het
Extl3	A	G	14: 65,304,189 (GRCm39)	I740T	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat2	C	T	11: 55,143,300 (GRCm39)	W4183*	probably null	Het
Fkrp	C	T	7: 16,545,751 (GRCm39)	R37Q	probably benign	Het
Frem3	A	G	8: 81,341,774 (GRCm39)	K1356E	probably benign	Het
Fus	A	T	7: 127,571,741 (GRCm39)		probably benign	Het
Gabarapl2	C	A	8: 112,669,201 (GRCm39)	S53*	probably null	Het
Gjd3	A	C	11: 102,691,733 (GRCm39)	M90R	probably damaging	Het
Gm30083	C	T	14: 33,725,557 (GRCm39)		probably null	Het
Gm7356	T	A	17: 14,221,387 (GRCm39)	Y214F	probably benign	Het
Hexd	A	T	11: 121,113,164 (GRCm39)	D533V	probably benign	Het
Ift172	G	A	5: 31,414,930 (GRCm39)	A1364V	probably damaging	Het
Ighmbp2	A	T	19: 3,326,907 (GRCm39)	F186Y	probably damaging	Het
Inpp5e	C	A	2: 26,297,774 (GRCm39)		probably null	Het
Iqcb1	A	G	16: 36,660,274 (GRCm39)	T146A	possibly damaging	Het
Kcnmb2	A	G	3: 32,252,465 (GRCm39)	Y222C	probably damaging	Het
Kdm6b	A	G	11: 69,297,588 (GRCm39)	W284R	probably damaging	Het
Khdc4	T	A	3: 88,593,824 (GRCm39)	M71K	probably damaging	Het
Ksr2	T	A	5: 117,903,626 (GRCm39)	*952R	probably null	Het
Ldlrap1	C	A	4: 134,495,285 (GRCm39)		probably benign	Het
Mpdu1	G	A	11: 69,548,881 (GRCm39)		probably benign	Het
Mrgprh	A	T	17: 13,095,822 (GRCm39)	T21S	probably benign	Het
Muc16	T	A	9: 18,549,833 (GRCm39)	T5487S	probably benign	Het
Mydgf	A	G	17: 56,490,737 (GRCm39)		probably null	Het
Napa	T	C	7: 15,849,182 (GRCm39)	C241R	possibly damaging	Het
Or10ab4	C	A	7: 107,654,312 (GRCm39)	A41E	possibly damaging	Het
Or10n7-ps1	T	C	9: 39,598,187 (GRCm39)	T18A	possibly damaging	Het
Or5k17	A	T	16: 58,746,648 (GRCm39)	Y95*	probably null	Het
Pla2g4f	A	T	2: 120,137,782 (GRCm39)	L326Q	probably damaging	Het
Pramel16	T	C	4: 143,675,366 (GRCm39)	T487A	probably benign	Het
Psme4	T	A	11: 30,787,291 (GRCm39)	Y1029N	probably damaging	Het
Ptprj	T	C	2: 90,289,858 (GRCm39)	T707A	possibly damaging	Het
Raet1e	T	A	10: 22,050,256 (GRCm39)	M13K	possibly damaging	Het
Rftn2	T	C	1: 55,233,508 (GRCm39)		probably null	Het
Rmi1	A	G	13: 58,557,169 (GRCm39)	I473V	probably benign	Het
Rps6ka4	A	G	19: 6,815,437 (GRCm39)	F186L	probably damaging	Het
Ryr1	T	A	7: 28,751,751 (GRCm39)	M3672L	possibly damaging	Het
Smarca5	A	T	8: 81,431,949 (GRCm39)	C890S	possibly damaging	Het
Spata31d1e	T	A	13: 59,889,872 (GRCm39)	K231N	possibly damaging	Het
Tdrd12	C	T	7: 35,185,024 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,259,293 (GRCm39)	N1530S	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tmem94	A	G	11: 115,676,656 (GRCm39)	S54G	possibly damaging	Het
Tnk2	T	C	16: 32,482,696 (GRCm39)	V41A	probably damaging	Het
Trpm1	A	G	7: 63,918,045 (GRCm39)	T462A	probably benign	Het
Usp42	T	C	5: 143,713,724 (GRCm39)	N17D	probably damaging	Het
Zfp607a	T	A	7: 27,578,473 (GRCm39)	C514*	probably null	Het
Zfp866	G	T	8: 70,218,871 (GRCm39)	Q250K	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
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'- AACTTCTAGCTCGATTTGGCATC -3'
(R):5'- TGTCAGGGTTGAAAACTAACAACAG -3'

Sequencing Primer
(F):5'- CAGATGTGGGGCCTCAGAATACTTC -3'
(R):5'- GTAATGCCAAACACTTCTATTGTGC -3'

Posted On

2018-11-06