Mutagenetix > Incidental Mutation

Incidental Mutation 'R0060:Usp6nl'

17308

Institutional Source

Beutler Lab

Gene Symbol

Usp6nl

Ensembl Gene

ENSMUSG00000039046

Gene Name

USP6 N-terminal like

Synonyms

TRE2NL

MMRRC Submission

038353-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R0060 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

6327478-6451201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6445701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 559 (D559E)

Ref Sequence

ENSEMBL: ENSMUSP00000043178 (fasta)

Gene Model

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

AlphaFold

Q80XC3

Predicted Effect

probably benign
Transcript: ENSMUST00000042503
AA Change: D559E

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000043178
Gene: ENSMUSG00000039046
AA Change: D559E

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 benign
Transcript: ENSMUST00000114937
AA Change: D536E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000110587
Gene: ENSMUSG00000039046
AA Change: D536E

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

Meta Mutation Damage Score

0.0992

Coding Region Coverage

1x: 90.4%
3x: 88.3%
10x: 83.8%
20x: 78.1%

Validation Efficiency

94% (74/79)

Allele List at MGI

All alleles(32) : Gene trapped(32)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	C	11: 58,313,008 (GRCm39)		probably benign	Het
4930432E11Rik	A	G	7: 29,273,595 (GRCm39)		noncoding transcript	Het
A630091E08Rik	A	G	7: 98,192,875 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,961,306 (GRCm39)	T539A	probably damaging	Het
Adam34	A	T	8: 44,128,920 (GRCm39)		probably benign	Het
Ankrd60	A	T	2: 173,414,406 (GRCm39)	M1K	probably null	Het
Cald1	T	C	6: 34,692,394 (GRCm39)		probably benign	Het
Capn7	T	C	14: 31,087,561 (GRCm39)		probably benign	Het
Cd109	G	A	9: 78,610,389 (GRCm39)	E1145K	probably damaging	Het
Celsr1	A	T	15: 85,806,399 (GRCm39)	V2353D	probably damaging	Het
Cep135	A	T	5: 76,769,197 (GRCm39)	I616F	probably benign	Het
Cep162	T	A	9: 87,119,878 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,804,372 (GRCm39)	D904N	probably damaging	Het
Cep85	T	C	4: 133,894,611 (GRCm39)	D65G	probably damaging	Het
Cfdp1	T	C	8: 112,566,986 (GRCm39)		probably benign	Het
Chl1	T	A	6: 103,688,019 (GRCm39)		probably benign	Het
Colec10	G	A	15: 54,302,542 (GRCm39)		probably benign	Het
Crxos	A	G	7: 15,632,448 (GRCm39)	T40A	possibly damaging	Het
Dnhd1	A	G	7: 105,317,721 (GRCm39)	D472G	probably damaging	Het
Dpp6	C	A	5: 27,803,817 (GRCm39)	N254K	probably damaging	Het
Eps8l3	T	C	3: 107,786,857 (GRCm39)	L11S	probably damaging	Het
Flad1	G	A	3: 89,309,552 (GRCm39)	R515*	probably null	Het
Fzd5	T	C	1: 64,774,835 (GRCm39)	T309A	probably benign	Het
Gm19685	T	C	17: 61,075,418 (GRCm39)			Het
Gsdme	A	G	6: 50,198,009 (GRCm39)	I317T	possibly damaging	Het
H2bc1	A	T	13: 24,117,928 (GRCm39)	I71N	possibly damaging	Het
Incenp	A	G	19: 9,862,823 (GRCm39)		probably benign	Het
Itgad	T	C	7: 127,802,158 (GRCm39)	S979P	probably damaging	Het
Kat2b	T	C	17: 53,961,571 (GRCm39)	V557A	probably damaging	Het
Lamc1	A	T	1: 153,117,614 (GRCm39)		probably benign	Het
Lgi4	G	A	7: 30,762,996 (GRCm39)	G157D	probably damaging	Het
Mga	T	C	2: 119,791,442 (GRCm39)		probably null	Het
Nubpl	T	C	12: 52,357,470 (GRCm39)		probably benign	Het
Or2b4	T	C	17: 38,116,891 (GRCm39)	L285P	probably damaging	Het
Or5be3	T	C	2: 86,864,118 (GRCm39)	Y149C	probably damaging	Het
Or8c20	C	T	9: 38,260,808 (GRCm39)	S143F	probably benign	Het
Peak1	A	T	9: 56,135,107 (GRCm39)	I78K	probably damaging	Het
Prune2	T	A	19: 16,981,097 (GRCm39)	F85I	probably damaging	Het
Rbm11	G	T	16: 75,395,667 (GRCm39)	D113Y	probably damaging	Het
Rif1	C	T	2: 52,001,129 (GRCm39)	R1528C	probably damaging	Het
Sema4d	A	G	13: 51,859,293 (GRCm39)		probably benign	Het
Slc30a4	T	A	2: 122,527,104 (GRCm39)	T381S	probably benign	Het
Slf2	G	T	19: 44,936,443 (GRCm39)	G696V	probably damaging	Het
Suv39h2	T	C	2: 3,465,953 (GRCm39)	Y134C	probably damaging	Het
Tmem273	C	A	14: 32,528,726 (GRCm39)		probably benign	Het
Tmem89	T	A	9: 108,744,485 (GRCm39)	V126D	probably damaging	Het
Trf	T	C	9: 103,098,121 (GRCm39)	T46A	probably benign	Het
Trmt6	C	T	2: 132,648,689 (GRCm39)	R415Q	possibly damaging	Het
Trp53bp1	T	C	2: 121,035,006 (GRCm39)	K1625E	probably damaging	Het
Wdr75	A	G	1: 45,855,777 (GRCm39)	D476G	probably benign	Het
Wrap53	A	C	11: 69,454,256 (GRCm39)	L261V	possibly damaging	Het
Zcchc4	T	A	5: 52,964,420 (GRCm39)	I292N	possibly damaging	Het

Other mutations in Usp6nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Usp6nl	APN	2	6,429,198 (GRCm39)	missense	probably damaging	1.00
IGL01603:Usp6nl	APN	2	6,428,246 (GRCm39)	missense	probably damaging	1.00
IGL01690:Usp6nl	APN	2	6,445,879 (GRCm39)	missense	probably benign	0.01
IGL01778:Usp6nl	APN	2	6,432,381 (GRCm39)	missense	possibly damaging	0.78
IGL02799:Usp6nl	APN	2	6,432,360 (GRCm39)	splice site	probably benign
3-1:Usp6nl	UTSW	2	6,413,828 (GRCm39)	splice site	probably benign
R0544:Usp6nl	UTSW	2	6,425,820 (GRCm39)	missense	probably damaging	0.98
R0550:Usp6nl	UTSW	2	6,405,134 (GRCm39)	splice site	probably benign
R0701:Usp6nl	UTSW	2	6,419,829 (GRCm39)	missense	possibly damaging	0.75
R1396:Usp6nl	UTSW	2	6,431,809 (GRCm39)	splice site	probably null
R1967:Usp6nl	UTSW	2	6,446,330 (GRCm39)	missense	probably benign	0.01
R2120:Usp6nl	UTSW	2	6,445,748 (GRCm39)	missense	probably damaging	1.00
R2215:Usp6nl	UTSW	2	6,429,150 (GRCm39)	missense	probably damaging	1.00
R2366:Usp6nl	UTSW	2	6,445,770 (GRCm39)	missense	probably benign	0.00
R3737:Usp6nl	UTSW	2	6,445,728 (GRCm39)	missense	probably damaging	0.99
R4178:Usp6nl	UTSW	2	6,445,787 (GRCm39)	missense	probably benign	0.11
R4656:Usp6nl	UTSW	2	6,445,973 (GRCm39)	missense	probably damaging	1.00
R4970:Usp6nl	UTSW	2	6,425,714 (GRCm39)	missense	probably benign	0.05
R5112:Usp6nl	UTSW	2	6,425,714 (GRCm39)	missense	probably benign	0.05
R5621:Usp6nl	UTSW	2	6,445,243 (GRCm39)	missense	probably benign	0.40
R5642:Usp6nl	UTSW	2	6,435,275 (GRCm39)	missense	probably damaging	0.97
R5999:Usp6nl	UTSW	2	6,446,150 (GRCm39)	missense	probably damaging	1.00
R6931:Usp6nl	UTSW	2	6,435,269 (GRCm39)	missense	possibly damaging	0.55
R7188:Usp6nl	UTSW	2	6,445,330 (GRCm39)	missense	probably benign	0.03
R7696:Usp6nl	UTSW	2	6,429,134 (GRCm39)	missense	probably damaging	1.00
R7973:Usp6nl	UTSW	2	6,413,762 (GRCm39)	missense	probably damaging	1.00
R8223:Usp6nl	UTSW	2	6,435,327 (GRCm39)	missense	probably damaging	1.00
R8321:Usp6nl	UTSW	2	6,395,900 (GRCm39)	missense	possibly damaging	0.92
R8384:Usp6nl	UTSW	2	6,432,604 (GRCm39)	missense	possibly damaging	0.85
R8465:Usp6nl	UTSW	2	6,399,352 (GRCm39)	missense	probably damaging	0.99
R9571:Usp6nl	UTSW	2	6,445,960 (GRCm39)	missense	possibly damaging	0.88

Posted On

2013-01-20