Mutagenetix > Incidental Mutation

Incidental Mutation 'R8223:Usp6nl'

636800

Institutional Source

Beutler Lab

Gene Symbol

Usp6nl

Ensembl Gene

ENSMUSG00000039046

Gene Name

USP6 N-terminal like

Synonyms

TRE2NL

MMRRC Submission

067641-MU

Accession Numbers

Essential gene?

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

Stock #

R8223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6327478-6451201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6435327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 362 (I362K)

Ref Sequence

ENSEMBL: ENSMUSP00000043178 (fasta)

Gene Model

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

AlphaFold

Q80XC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000042503
AA Change: I362K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043178
Gene: ENSMUSG00000039046
AA Change: I362K

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: I339K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110587
Gene: ENSMUSG00000039046
AA Change: I339K

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.2%

Validation Efficiency

Allele List at MGI

All alleles(32) : Gene trapped(32)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,668,692 (GRCm39)	W18R	probably damaging	Het
Alms1	T	A	6: 85,620,222 (GRCm39)	Y2417*	probably null	Het
Apold1	T	A	6: 134,961,148 (GRCm39)	S201T	probably benign	Het
Arhgap31	G	A	16: 38,424,084 (GRCm39)	P661S	probably benign	Het
Cacfd1	T	C	2: 26,908,396 (GRCm39)	V110A	possibly damaging	Het
Capn2	A	G	1: 182,310,099 (GRCm39)		probably null	Het
Chadl	T	C	15: 81,579,335 (GRCm39)	E98G	possibly damaging	Het
Crxos	T	C	7: 15,631,394 (GRCm39)	Y31H	probably benign	Het
Cyp4f14	A	C	17: 33,130,627 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,689,839 (GRCm39)	I95T	probably benign	Het
Dars1	T	C	1: 128,299,961 (GRCm39)	E341G	probably benign	Het
Dchs1	G	T	7: 105,411,824 (GRCm39)	R1431S	possibly damaging	Het
Dop1a	T	A	9: 86,400,345 (GRCm39)	H1001Q	probably damaging	Het
Efemp1	T	C	11: 28,804,528 (GRCm39)	Y19H	probably benign	Het
Eml1	T	G	12: 108,502,569 (GRCm39)	F726V	probably benign	Het
Fdx1	A	T	9: 51,859,921 (GRCm39)	D136E	probably benign	Het
Ganab	A	T	19: 8,888,192 (GRCm39)	D446V	probably damaging	Het
Gusb	A	G	5: 130,018,953 (GRCm39)	V561A	probably benign	Het
Hcn1	A	T	13: 118,010,406 (GRCm39)	D328V	unknown	Het
Hdgfl1	A	G	13: 26,954,047 (GRCm39)	Y9H	probably damaging	Het
Hes3	T	A	4: 152,371,572 (GRCm39)	S101C	probably damaging	Het
Igkv2-112	T	C	6: 68,197,579 (GRCm39)	S84P	probably benign	Het
Ints9	C	T	14: 65,257,809 (GRCm39)	P330S	possibly damaging	Het
Kdm7a	A	T	6: 39,126,235 (GRCm39)	N583K	probably damaging	Het
Klhl10	C	T	11: 100,338,227 (GRCm39)	T322M	probably damaging	Het
Kmt2c	A	T	5: 25,529,216 (GRCm39)	V1545D	possibly damaging	Het
Laptm5	T	C	4: 130,653,511 (GRCm39)		probably null	Het
Ldlr	A	G	9: 21,658,546 (GRCm39)	T833A	probably damaging	Het
Llgl1	G	T	11: 60,593,648 (GRCm39)	L40F	possibly damaging	Het
Lrrc14	T	C	15: 76,598,756 (GRCm39)	L464S	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Lysmd3	T	A	13: 81,817,386 (GRCm39)	L121H		Het
Map2	T	C	1: 66,464,649 (GRCm39)	S1680P	probably damaging	Het
Med12l	T	C	3: 58,993,784 (GRCm39)	V583A	possibly damaging	Het
Mfsd4b5	A	G	10: 39,846,246 (GRCm39)	Y445H	probably damaging	Het
Morf4l1	G	A	9: 89,979,475 (GRCm39)	P169S	probably benign	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Ola1	A	G	2: 72,929,694 (GRCm39)	L303P	probably damaging	Het
Or1j19	T	A	2: 36,677,409 (GRCm39)	Y291N		Het
Or1o2	T	C	17: 37,542,727 (GRCm39)	D178G	possibly damaging	Het
Or7e166	T	C	9: 19,624,705 (GRCm39)	I194T	probably benign	Het
Or9i2	G	T	19: 13,816,225 (GRCm39)	T104K	probably damaging	Het
Pdlim3	A	T	8: 46,353,562 (GRCm39)	H99L	possibly damaging	Het
Plagl2	G	T	2: 153,073,461 (GRCm39)	T480N	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptprq	C	T	10: 107,535,499 (GRCm39)	R422Q	probably benign	Het
Rad18	T	A	6: 112,664,982 (GRCm39)	R51*	probably null	Het
Rpap3	T	A	15: 97,589,185 (GRCm39)	T250S	probably benign	Het
Serpinb11	T	C	1: 107,305,262 (GRCm39)	Y213H	probably benign	Het
Slc15a4	A	G	5: 127,686,080 (GRCm39)	F201L	possibly damaging	Het
Slc25a4	A	G	8: 46,663,896 (GRCm39)	S22P	probably damaging	Het
Slfn1	T	A	11: 83,012,245 (GRCm39)	N120K	probably damaging	Het
Smok3c	T	C	5: 138,063,655 (GRCm39)	S381P	probably benign	Het
Sry	T	A	Y: 2,663,204 (GRCm39)	Q152L	unknown	Het
Taar2	T	A	10: 23,817,248 (GRCm39)	W263R	probably damaging	Het
Thnsl1	T	A	2: 21,216,924 (GRCm39)	V226E	probably benign	Het
Tmeff2	T	C	1: 51,172,279 (GRCm39)		probably null	Het
Tox	A	G	4: 6,842,408 (GRCm39)	Y41H	probably damaging	Het
Trank1	T	A	9: 111,194,957 (GRCm39)	Y994N	probably damaging	Het
Trim9	C	T	12: 70,297,789 (GRCm39)	A713T	probably damaging	Het
Tub	T	A	7: 108,628,533 (GRCm39)	M393K	probably benign	Het
Ube4a	A	G	9: 44,871,333 (GRCm39)	L22P	possibly damaging	Het
Usp47	A	G	7: 111,703,583 (GRCm39)	K1165R	probably damaging	Het
Vmn1r217	T	C	13: 23,298,369 (GRCm39)	I178V	probably benign	Het
Vmn1r45	T	A	6: 89,910,074 (GRCm39)	T299S	probably damaging	Het
Vmn2r5	A	T	3: 64,398,726 (GRCm39)	L751*	probably null	Het
Xkr8	G	A	4: 132,458,246 (GRCm39)	P144L	probably damaging	Het
Zfpm2	T	C	15: 40,616,355 (GRCm39)	I35T	probably benign	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
R0060:Usp6nl	UTSW	2	6,445,701 (GRCm39)	missense	probably benign	0.17
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
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

Predicted Primers

PCR Primer
(F):5'- TCCACAATGTGAAATGTAAGGTGTG -3'
(R):5'- GGCATGACACTGTCAACTGC -3'

Sequencing Primer
(F):5'- GTGTGTGTGTCCTCTTTAGTACCC -3'
(R):5'- GCAAATCCTCTAGTAGCTGGTTAGAC -3'

Posted On

2020-07-13