Mutagenetix > Incidental Mutation

Incidental Mutation 'R9455:Tsg101'

714529

Institutional Source

Beutler Lab

Gene Symbol

Tsg101

Ensembl Gene

ENSMUSG00000014402

Gene Name

tumor susceptibility gene 101

Synonyms

CC2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9455 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46538697-46569717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46563151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 34 (D34E)

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: D34E

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

SMART Domains

Protein: ENSMUSP00000014546
Gene: ENSMUSG00000014402
AA Change: D34E

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: D34E

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

SMART Domains

Protein: ENSMUSP00000121314
Gene: ENSMUSG00000014402
AA Change: D34E

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

possibly damaging
Transcript: ENSMUST00000210664
AA Change: D34E

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211076
AA Change: D34E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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
Abca13	T	C	11: 9,353,897 (GRCm39)	Y3740H	probably damaging	Het
Acsl6	G	T	11: 54,210,752 (GRCm39)		probably benign	Het
Adamts5	C	T	16: 85,667,017 (GRCm39)	D492N	probably damaging	Het
Als2	T	C	1: 59,219,296 (GRCm39)	E1218G	probably damaging	Het
Bcl2l15	C	T	3: 103,743,369 (GRCm39)	T90I	unknown	Het
Bsn	A	G	9: 107,988,531 (GRCm39)	V2407A	unknown	Het
Casp8ap2	T	C	4: 32,643,924 (GRCm39)	M999T	possibly damaging	Het
Ccdc66	G	A	14: 27,208,872 (GRCm39)	P461S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cep295	A	T	9: 15,245,046 (GRCm39)	S1137T	possibly damaging	Het
Chd7	A	G	4: 8,752,061 (GRCm39)	Y186C	unknown	Het
Clca3b	T	A	3: 144,529,023 (GRCm39)	T884S	unknown	Het
Cndp2	T	A	18: 84,690,246 (GRCm39)	Y232F	probably benign	Het
Cx3cr1	A	T	9: 119,880,659 (GRCm39)	Y248N	probably damaging	Het
Dnm3	A	T	1: 162,148,524 (GRCm39)	N282K	possibly damaging	Het
Emilin2	T	C	17: 71,581,485 (GRCm39)	I414V	probably benign	Het
F3	A	T	3: 121,527,866 (GRCm39)	N288I	probably damaging	Het
Fat4	T	C	3: 38,945,412 (GRCm39)	L1435P		Het
Fbxw14	A	T	9: 109,103,567 (GRCm39)	N371K	probably benign	Het
Firrm	G	T	1: 163,781,721 (GRCm39)	T902K	probably benign	Het
Fn1	T	A	1: 71,647,112 (GRCm39)	E1559D	probably benign	Het
Frrs1	T	A	3: 116,695,972 (GRCm39)	M497K	possibly damaging	Het
Gm45861	C	T	8: 28,041,394 (GRCm39)	Q1000*	probably null	Het
Gpr152	T	C	19: 4,193,844 (GRCm39)	S462P	probably benign	Het
Irgq	A	G	7: 24,231,217 (GRCm39)	N136S	probably benign	Het
Kdm2b	T	C	5: 123,099,537 (GRCm39)	Y134C	probably damaging	Het
Klf12	A	T	14: 100,347,226 (GRCm39)	L35H	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Ksr1	A	T	11: 78,911,602 (GRCm39)	C727S	possibly damaging	Het
Lpin3	G	T	2: 160,737,259 (GRCm39)	R102L	probably benign	Het
Ltv1	T	C	10: 13,058,117 (GRCm39)	E229G	probably damaging	Het
Ly6f	T	A	15: 75,141,648 (GRCm39)	Y30*	probably null	Het
Map2k7	C	G	8: 4,293,957 (GRCm39)	R168G	probably damaging	Het
Mep1a	T	C	17: 43,805,867 (GRCm39)	E100G	probably benign	Het
Mrgpra6	T	A	7: 46,838,967 (GRCm39)	Y46F	probably damaging	Het
Mroh6	C	A	15: 75,759,905 (GRCm39)	R143L	probably benign	Het
Myom2	T	A	8: 15,156,293 (GRCm39)	H713Q	probably benign	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Or51b6	G	T	7: 103,556,200 (GRCm39)	V182F		Het
Pear1	T	A	3: 87,666,488 (GRCm39)	T72S	possibly damaging	Het
Sel1l3	T	A	5: 53,289,157 (GRCm39)	N888I	probably damaging	Het
Sell	A	T	1: 163,894,218 (GRCm39)	T171S	probably benign	Het
Semp2l1	A	T	1: 32,585,907 (GRCm39)	M1K	probably null	Het
Sin3b	G	T	8: 73,450,681 (GRCm39)	A37S	possibly damaging	Het
Sipa1l1	T	C	12: 82,434,399 (GRCm39)	F723S	probably damaging	Het
Slc26a8	T	C	17: 28,863,588 (GRCm39)	T724A	probably damaging	Het
Slc51a	T	G	16: 32,305,013 (GRCm39)	N25H	probably damaging	Het
Slc9a4	T	C	1: 40,668,612 (GRCm39)	F752L	probably benign	Het
Slco4a1	A	C	2: 180,115,370 (GRCm39)	D649A	probably benign	Het
Tax1bp1	T	A	6: 52,743,029 (GRCm39)	H805Q	probably damaging	Het
Tgfb1i1	T	C	7: 127,852,009 (GRCm39)	F303L	probably damaging	Het
Tspoap1	T	C	11: 87,661,359 (GRCm39)	S604P	probably damaging	Het
Ttll2	C	A	17: 7,619,692 (GRCm39)	W78C	probably damaging	Het
Ttn	A	G	2: 76,749,334 (GRCm39)	F3905S	possibly damaging	Het
Txnrd2	G	T	16: 18,248,615 (GRCm39)	C57F	probably damaging	Het
Vcan	A	T	13: 89,837,452 (GRCm39)	D2697E	probably damaging	Het
Vwa8	G	A	14: 79,300,115 (GRCm39)	V983I	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
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
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'- TTTCCCGACAGCTGTTAGG -3'
(R):5'- GTCCCCTTAGGCTTTAATGTTAATG -3'

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

Posted On

2022-06-15