Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01021:Usp6nl'

53461

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: 0.092) question?

Stock #

IGL01021

Quality Score

Status

Chromosome

Chromosomal Location

6322667-6446390 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6424387 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 220 (M220K)

Ref Sequence

ENSEMBL: ENSMUSP00000110587 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042503
AA Change: M243K

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

SMART Domains

Protein: ENSMUSP00000043178
Gene: ENSMUSG00000039046
AA Change: M243K

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

probably damaging
Transcript: ENSMUST00000114937
AA Change: M220K

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

SMART Domains

Protein: ENSMUSP00000110587
Gene: ENSMUSG00000039046
AA Change: M220K

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: ENSMUST00000132391

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 125,318,676	V80A	unknown	Het
Adam28	A	G	14: 68,642,114	S162P	probably benign	Het
Adamts14	G	T	10: 61,225,373	S426Y	probably damaging	Het
Ankrd24	A	G	10: 81,635,161		probably null	Het
B3galt5	C	A	16: 96,315,723	H185Q	probably benign	Het
Bod1l	A	G	5: 41,838,173		probably benign	Het
Ddx46	T	A	13: 55,666,332	Y700*	probably null	Het
Dph7	T	G	2: 24,971,923		probably null	Het
Fcho1	A	T	8: 71,713,523	Y354*	probably null	Het
Fnbp4	A	G	2: 90,777,669	M912V	probably benign	Het
Fpgt	T	A	3: 155,091,492	E42V	possibly damaging	Het
Frmd3	A	G	4: 74,074,120	I75V	possibly damaging	Het
Gm10264	G	A	12: 88,329,272	G7R	unknown	Het
Gm3278	G	T	14: 4,895,222	V159L	possibly damaging	Het
Gmds	T	C	13: 32,127,030	I205V	possibly damaging	Het
Gprin1	T	A	13: 54,740,369	S31C	probably damaging	Het
Igkv4-68	T	C	6: 69,304,881	E102G	probably damaging	Het
Itga1	T	A	13: 114,997,000	Y458F	probably benign	Het
Kif20b	T	C	19: 34,938,260	V479A	possibly damaging	Het
Megf8	T	A	7: 25,338,374	W772R	probably benign	Het
Muc6	T	A	7: 141,637,162	I2533F	possibly damaging	Het
Npas3	T	C	12: 54,003,560	S258P	probably damaging	Het
Padi3	T	C	4: 140,796,334		probably benign	Het
Pmfbp1	G	T	8: 109,537,993	R897L	possibly damaging	Het
Rims1	A	T	1: 22,486,620	W407R	probably damaging	Het
Scnn1b	G	T	7: 121,918,036	D632Y	probably damaging	Het
Tas2r123	G	A	6: 132,847,406	A89T	probably benign	Het
Tbk1	T	C	10: 121,551,272	E706G	probably benign	Het
Thra	A	G	11: 98,762,928	D195G	possibly damaging	Het
Tpp2	T	A	1: 43,934,187	Y33*	probably null	Het
Vmn2r112	C	T	17: 22,618,904	T782I	probably damaging	Het
Zbtb43	T	C	2: 33,453,759	T485A	probably benign	Het
Zfat	T	C	15: 68,170,166	I840V	possibly damaging	Het

Other mutations in Usp6nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Usp6nl	APN	2	6423435	missense	probably damaging	1.00
IGL01690:Usp6nl	APN	2	6441068	missense	probably benign	0.01
IGL01778:Usp6nl	APN	2	6427570	missense	possibly damaging	0.78
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

Posted On

2013-06-28