Mutagenetix > Incidental Mutation

Incidental Mutation 'RF046:Tusc1'

605018

Institutional Source

Beutler Lab

Gene Symbol

Tusc1

Ensembl Gene

ENSMUSG00000054000

Gene Name

tumor suppressor candidate 1

Synonyms

2200001D17Rik, TSG-9

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF046 (G1)

Quality Score

126.588

Status

Not validated

Chromosome

Chromosomal Location

93222385-93223748 bp(-) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

CCGCCA to CCGCCAACGCCA at 93223539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000069652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066774]

AlphaFold

Q673H1

Predicted Effect

probably benign
Transcript: ENSMUST00000066774

SMART Domains

Protein: ENSMUSP00000069652
Gene: ENSMUSG00000054000

Domain	Start	End	E-Value	Type
low complexity region	5	52	N/A	INTRINSIC
coiled coil region	66	110	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located within the region of chromosome 9p that harbors tumor suppressor genes critical in carcinogenesis. It is an intronless gene which is downregulated in non-small-cell lung cancer and small-cell lung cancer cell lines, suggesting that it may play a role in lung tumorigenesis. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	TTTT	TTTTT	11: 30,376,249 (GRCm39)		probably null	Het
Ankhd1	CGGCGG	CGGCGGGGGCGG	18: 36,693,979 (GRCm39)		probably benign	Het
Apc	A	AATAAAGCGC	18: 34,415,062 (GRCm39)		probably benign	Het
Arid1b	GGC	GGCCGC	17: 5,045,865 (GRCm39)		probably benign	Het
Chd4	G	GTTCCCT	6: 125,099,094 (GRCm39)		probably benign	Het
Dclre1a	CTTTGCT	C	19: 56,532,564 (GRCm39)		probably benign	Het
Dnaaf9	CATC	CATCATC	2: 130,612,654 (GRCm39)		probably null	Het
Eps8	TCGCTC	TCGCTCGCTC	6: 137,494,061 (GRCm39)		probably benign	Het
Fkbp1a	CGCCGCCGCCA	C	2: 151,384,618 (GRCm39)		probably null	Het
Flywch1	CTCCTGGTGT	CTCCTGGTGTGGGGAGGCTACGTACTCACCCAATCCTGGTGT	17: 23,981,143 (GRCm39)		probably null	Het
Flywch1	GGTGT	GGTGTGGGGAGGCTACGTACTCACCCACTCCTTGTGT	17: 23,981,148 (GRCm39)		probably null	Het
Gm7247	AGACCAGACC	A	14: 51,601,781 (GRCm39)		probably benign	Het
H2-T10	TTTCCCACTGTA	T	17: 36,431,186 (GRCm39)		probably null	Het
Iqcf4	TTCCTTTTCCTTTT	TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTGTCCTTTTCCTTTT	9: 106,447,809 (GRCm39)		probably benign	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,374,535 (GRCm39)		probably benign	Het
Lce1m	GCT	GCTCCCACCCCTTCT	3: 92,925,600 (GRCm39)		probably benign	Het
Lcmt1	GGC	GGCCGCGGGGCGC	7: 122,969,057 (GRCm39)		probably null	Het
Nusap1	GAGGAGCAAGCTGAGA	GAGGAGCAAGCTGAGATACACGTTAGCAGTTAGGAGCAAGCTGAGA	2: 119,458,076 (GRCm39)		probably null	Het
Pkhd1l1	TTTTTTTTTTTTTT	TTTTTTTTTTTTTTTTTTTTTTT	15: 44,421,891 (GRCm39)		probably benign	Het
Plxnc1	C	T	10: 94,700,869 (GRCm39)	C605Y	probably damaging	Het
Pnma8a	TA	TAACTCATGATGCTCCTGCTTCAACA	7: 16,695,348 (GRCm39)		probably benign	Het
Polr1has	CACCACCACCACCAC	CACCACCACCACCACCACCACAACCACCACCACCAC	17: 37,275,949 (GRCm39)		probably benign	Het
Rfx4	CTCTCTCTCTCTCT	CTCTCTCTCTCTCTCTATCTCTCTCTCTCT	10: 84,694,345 (GRCm39)		probably benign	Het
Rtbdn	C	CAGCGGG	8: 85,682,808 (GRCm39)		probably benign	Het
Spmap2l	CGATCCTCCCCAGTCCCGCAAGGCCAG	CGATCCTCCCCAGTCCCGCAAGGCCAGGGATCCTCCCCAGTCCCGCAAGGCCAG	5: 77,164,250 (GRCm39)		probably benign	Het
Trp53bp1	TCCTGTGAGGCCCTCTGCTGC	TC	2: 121,046,482 (GRCm39)		probably null	Het
Usp2	TGACCTGTTCTTCACTTAC	TGACCTGTTCTTCACTTACTCATGCGACCTGTTCTTCACTTAC	9: 44,000,408 (GRCm39)		probably benign	Het

Other mutations in Tusc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4548:Tusc1	UTSW	4	93,223,540 (GRCm39)	small insertion	probably benign
FR4589:Tusc1	UTSW	4	93,223,544 (GRCm39)	small insertion	probably benign
FR4737:Tusc1	UTSW	4	93,223,550 (GRCm39)	small insertion	probably benign
R0131:Tusc1	UTSW	4	93,223,070 (GRCm39)	missense	probably benign	0.00
R2212:Tusc1	UTSW	4	93,223,173 (GRCm39)	missense	probably damaging	0.99
R3412:Tusc1	UTSW	4	93,223,173 (GRCm39)	missense	probably damaging	0.99
R3413:Tusc1	UTSW	4	93,223,173 (GRCm39)	missense	probably damaging	0.99
R3414:Tusc1	UTSW	4	93,223,173 (GRCm39)	missense	probably damaging	0.99
R9507:Tusc1	UTSW	4	93,223,245 (GRCm39)	missense	probably benign	0.01
RF021:Tusc1	UTSW	4	93,223,553 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACATGACCTCCAGCTTCTCTAG -3'
(R):5'- AGCAGAGGACAAGGCTTTC -3'

Sequencing Primer
(F):5'- AAGAGGCTGCGGTTCTCG -3'
(R):5'- ACAAGGCTTTCCGGGCAC -3'

Posted On

2019-12-04