Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01778:Usp6nl'

153749

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp6nl

Ensembl Gene

ENSMUSG00000039046

Gene Name

USP6 N-terminal like

Synonyms

TRE2NL

Accession Numbers

Genbank: NM_181399, NM_001080548; MGI: 2138893

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

6322667-6446390 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6427570 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 260 (T260A)

Ref Sequence

ENSEMBL: ENSMUSP00000110587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042503] [ENSMUST00000114937]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042503
AA Change: T283A

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043178
Gene: ENSMUSG00000039046
AA Change: T283A

Domain	Start	End	E-Value	Type
TBC	120	338	2.14e-78	SMART
low complexity region	486	499	N/A	INTRINSIC
low complexity region	576	591	N/A	INTRINSIC
low complexity region	594	614	N/A	INTRINSIC
low complexity region	811	825	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114937
AA Change: T260A

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110587
Gene: ENSMUSG00000039046
AA Change: T260A

Domain	Start	End	E-Value	Type
TBC	97	315	2.14e-78	SMART
low complexity region	463	476	N/A	INTRINSIC
low complexity region	553	568	N/A	INTRINSIC
low complexity region	571	591	N/A	INTRINSIC
low complexity region	788	802	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150515

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(32) : Gene trapped(32)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,666,705	K325E	probably benign	Het
Arc	C	T	15: 74,672,355	M6I	probably benign	Het
Atp7b	A	T	8: 21,994,828	D1404E	probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cdk5rap1	T	A	2: 154,366,036	N156I	probably damaging	Het
Ctsa	T	C	2: 164,834,310		probably benign	Het
Depdc1b	T	G	13: 108,362,327	N181K	probably benign	Het
Epg5	T	C	18: 78,019,274	V1994A	probably damaging	Het
Epyc	T	A	10: 97,681,237	C312*	probably null	Het
Erv3	T	A	2: 131,855,957	R161*	probably null	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,691,591	T280A	possibly damaging	Het
Gldn	A	T	9: 54,334,492		probably null	Het
Gm6768	T	C	12: 119,262,496		noncoding transcript	Het
Gtf3c4	G	A	2: 28,835,088	R211C	probably damaging	Het
Hsh2d	A	G	8: 72,193,507	D16G	probably damaging	Het
Klk15	T	A	7: 43,938,838	M190K	probably damaging	Het
Klri1	A	G	6: 129,717,047	S26P	possibly damaging	Het
Krt78	T	A	15: 101,950,967	D265V	probably damaging	Het
Lgr5	A	C	10: 115,462,702	I355S	probably damaging	Het
Lig3	T	A	11: 82,794,541	V595D	probably damaging	Het
Map2k6	A	C	11: 110,512,869		probably benign	Het
Mdm4	A	G	1: 132,994,547	S286P	probably benign	Het
Olfr320	A	G	11: 58,684,269	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,248,528	M114K	probably damaging	Het
Rdh13	C	T	7: 4,430,389		probably null	Het
Reg3g	T	A	6: 78,466,833	I131F	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc8a2	T	A	7: 16,158,893	F827I	probably damaging	Het
Slfn9	A	T	11: 82,987,374	C310S	probably damaging	Het
Sypl	A	G	12: 32,975,642	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,461,641	T82S	possibly damaging	Het
Trim28	T	A	7: 13,030,702	V782D	probably damaging	Het
Ttn	G	A	2: 76,744,898	T25217M	probably damaging	Het
Vmn2r54	A	T	7: 12,632,082	N308K	probably benign	Het
Xdh	T	C	17: 73,900,280	E986G	probably benign	Het
Zfp770	T	C	2: 114,196,238	D450G	probably damaging	Het
Zw10	T	G	9: 49,069,615	S438R	probably benign	Het

Other mutations in Usp6nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Usp6nl	APN	2	6424387	missense	probably damaging	1.00
IGL01603:Usp6nl	APN	2	6423435	missense	probably damaging	1.00
IGL01690:Usp6nl	APN	2	6441068	missense	probably benign	0.01
IGL02799:Usp6nl	APN	2	6427549	splice site	probably benign
3-1:Usp6nl	UTSW	2	6409017	splice site	probably benign
R0060:Usp6nl	UTSW	2	6440890	missense	probably benign	0.17
R0544:Usp6nl	UTSW	2	6421009	missense	probably damaging	0.98
R0550:Usp6nl	UTSW	2	6400323	splice site	probably benign
R0701:Usp6nl	UTSW	2	6415018	missense	possibly damaging	0.75
R1396:Usp6nl	UTSW	2	6426998	splice site	probably null
R1967:Usp6nl	UTSW	2	6441519	missense	probably benign	0.01
R2120:Usp6nl	UTSW	2	6440937	missense	probably damaging	1.00
R2215:Usp6nl	UTSW	2	6424339	missense	probably damaging	1.00
R2366:Usp6nl	UTSW	2	6440959	missense	probably benign	0.00
R3737:Usp6nl	UTSW	2	6440917	missense	probably damaging	0.99
R4178:Usp6nl	UTSW	2	6440976	missense	probably benign	0.11
R4656:Usp6nl	UTSW	2	6441162	missense	probably damaging	1.00
R4970:Usp6nl	UTSW	2	6420903	missense	probably benign	0.05
R5112:Usp6nl	UTSW	2	6420903	missense	probably benign	0.05
R5621:Usp6nl	UTSW	2	6440432	missense	probably benign	0.40
R5642:Usp6nl	UTSW	2	6430464	missense	probably damaging	0.97
R5999:Usp6nl	UTSW	2	6441339	missense	probably damaging	1.00
R6931:Usp6nl	UTSW	2	6430458	missense	possibly damaging	0.55
R7188:Usp6nl	UTSW	2	6440519	missense	probably benign	0.03
R7696:Usp6nl	UTSW	2	6424323	missense	probably damaging	1.00
R7973:Usp6nl	UTSW	2	6408951	missense	probably damaging	1.00
R8223:Usp6nl	UTSW	2	6430516	missense	probably damaging	1.00
R8321:Usp6nl	UTSW	2	6391089	missense	possibly damaging	0.92
R8384:Usp6nl	UTSW	2	6427793	missense	possibly damaging	0.85
R8465:Usp6nl	UTSW	2	6394541	missense	probably damaging	0.99

Posted On

2014-02-04