Mutagenetix > Incidental Mutation

Incidental Mutation 'R3615:Tusc3'

473055

Institutional Source

Beutler Lab

Gene Symbol

Tusc3

Ensembl Gene

ENSMUSG00000039530

Gene Name

tumor suppressor candidate 3

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

R3615 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39472999-39619367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39617879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 347 (K347N)

Ref Sequence

ENSEMBL: ENSMUSP00000148134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167992] [ENSMUST00000169034] [ENSMUST00000209440] [ENSMUST00000211241]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000167992
AA Change: K347N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126080
Gene: ENSMUSG00000039530
AA Change: K347N

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
Pfam:Thioredoxin	64	185	3.7e-7	PFAM
Pfam:OST3_OST6	179	329	1.6e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169034

SMART Domains

Protein: ENSMUSP00000129916
Gene: ENSMUSG00000039530

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
PDB:4M90\|A	44	102	7e-38	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000209440
AA Change: K347N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000211241

Meta Mutation Damage Score

0.1578

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (40/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate tumor suppressor gene. It is located within a homozygously deleted region of a metastatic prostate cancer. The gene is expressed in most nonlymphoid human tissues including prostate, lung, liver, and colon. Expression was also detected in many epithelial tumor cell lines. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,257 (GRCm39)	T818A	probably benign	Het
Aasdh	A	G	5: 77,036,629 (GRCm39)	V304A	probably benign	Het
Angptl3	G	A	4: 98,922,702 (GRCm39)	A248T	probably benign	Het
Ap2b1	T	A	11: 83,215,391 (GRCm39)	C112S	possibly damaging	Het
Aqr	A	T	2: 113,967,368 (GRCm39)	I549N	probably damaging	Het
Barhl1	C	T	2: 28,801,562 (GRCm39)	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942 (GRCm39)	V821A	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dnah1	A	G	14: 31,037,105 (GRCm39)	L247P	possibly damaging	Het
Dpysl2	T	A	14: 67,071,819 (GRCm39)	H107L	probably damaging	Het
Dzip3	A	G	16: 48,757,426 (GRCm39)	L869S	probably damaging	Het
Efs	T	C	14: 55,157,552 (GRCm39)	Y160C	probably damaging	Het
Enam	A	T	5: 88,652,306 (GRCm39)	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam184b	A	G	5: 45,740,157 (GRCm39)	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,572,828 (GRCm39)	Y105*	probably null	Het
Fiz1	A	G	7: 5,011,171 (GRCm39)	L449P	probably benign	Het
Foxi2	T	A	7: 135,012,180 (GRCm39)	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,666,914 (GRCm39)	R212Q	probably damaging	Het
Gm5105	C	A	3: 137,755,449 (GRCm39)	A46S	unknown	Het
Grik5	C	T	7: 24,721,996 (GRCm39)	A581T	probably benign	Het
Gse1	C	G	8: 121,299,481 (GRCm39)		probably benign	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Krt25	A	C	11: 99,208,124 (GRCm39)	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,270,727 (GRCm39)	V269A	probably benign	Het
Lamc1	T	C	1: 153,126,896 (GRCm39)	K417E	probably damaging	Het
Miip	A	G	4: 147,950,371 (GRCm39)	M75T	probably benign	Het
Nlrp10	A	G	7: 108,523,683 (GRCm39)	F599S	probably benign	Het
Nlrp12	T	A	7: 3,289,205 (GRCm39)	M436L	probably benign	Het
Or4b13	T	C	2: 90,082,753 (GRCm39)	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,581,058 (GRCm39)	S57F	probably damaging	Het
Pla2g2e	G	A	4: 138,607,685 (GRCm39)	V22I	probably benign	Het
Plekhd1	A	G	12: 80,764,044 (GRCm39)	E202G	probably damaging	Het
Prss21	A	G	17: 24,091,805 (GRCm39)	T258A	probably benign	Het
Prss34	A	G	17: 25,517,820 (GRCm39)	E65G	probably benign	Het
Psap	A	G	10: 60,130,383 (GRCm39)	N149S	probably benign	Het
Ptprf	C	T	4: 118,095,080 (GRCm39)	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520 (GRCm39)	L12P	probably damaging	Het
Sf3b3	A	G	8: 111,571,155 (GRCm39)	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,065,427 (GRCm39)	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,560,886 (GRCm39)	L397Q	probably damaging	Het
Smg5	A	G	3: 88,243,758 (GRCm39)	S10G	possibly damaging	Het
Spata31e5	T	C	1: 28,815,656 (GRCm39)	D792G	probably benign	Het
Spata31g1	A	G	4: 42,971,864 (GRCm39)	N399S	probably benign	Het
Tas2r102	C	T	6: 132,739,781 (GRCm39)	Q230*	probably null	Het
Tdo2	A	G	3: 81,882,735 (GRCm39)	Y13H	possibly damaging	Het
Tmem231	C	T	8: 112,644,945 (GRCm39)	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,592,353 (GRCm39)	M254T	probably damaging	Het
Trpm1	G	A	7: 63,893,318 (GRCm39)	G1057R	probably damaging	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Vash2	T	C	1: 190,702,616 (GRCm39)	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,439,866 (GRCm39)	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,760,373 (GRCm39)	T420A	probably benign	Het

Other mutations in Tusc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01730:Tusc3	APN	8	39,617,880 (GRCm39)	makesense	probably null
IGL03247:Tusc3	APN	8	39,597,931 (GRCm39)	missense	possibly damaging	0.64
R0070:Tusc3	UTSW	8	39,530,421 (GRCm39)	missense	possibly damaging	0.49
R0594:Tusc3	UTSW	8	39,564,122 (GRCm39)	missense	probably damaging	1.00
R1648:Tusc3	UTSW	8	39,513,721 (GRCm39)	nonsense	probably null
R3616:Tusc3	UTSW	8	39,617,879 (GRCm39)	missense	probably damaging	0.97
R5502:Tusc3	UTSW	8	39,597,947 (GRCm39)	nonsense	probably null
R5723:Tusc3	UTSW	8	39,538,651 (GRCm39)	missense	possibly damaging	0.75
R5753:Tusc3	UTSW	8	39,564,100 (GRCm39)	missense	probably damaging	1.00
R6004:Tusc3	UTSW	8	39,538,560 (GRCm39)	missense	probably damaging	0.99
R6030:Tusc3	UTSW	8	39,538,560 (GRCm39)	missense	probably damaging	0.99
R6030:Tusc3	UTSW	8	39,538,560 (GRCm39)	missense	probably damaging	0.99
R7162:Tusc3	UTSW	8	39,593,741 (GRCm39)	missense	probably benign	0.00
R7483:Tusc3	UTSW	8	39,538,635 (GRCm39)	missense	probably benign	0.01
R8309:Tusc3	UTSW	8	39,617,882 (GRCm39)	makesense	probably null
R8968:Tusc3	UTSW	8	39,597,898 (GRCm39)	missense	probably benign	0.14
R9006:Tusc3	UTSW	8	39,538,627 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2017-04-14