Mutagenetix > Incidental Mutations

Incidental Mutation 'R7446:Uspl1'

577285

Institutional Source

Beutler Lab

Gene Symbol

Uspl1

Ensembl Gene

ENSMUSG00000041264

Gene Name

ubiquitin specific peptidase like 1

Synonyms

E430026A01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R7446 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149184350-149215434 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 149204272 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 360 (C360*)

Ref Sequence

ENSEMBL: ENSMUSP00000050172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050472] [ENSMUST00000100410] [ENSMUST00000117878] [ENSMUST00000119685] [ENSMUST00000121416] [ENSMUST00000122160] [ENSMUST00000126168]

Predicted Effect

probably null
Transcript: ENSMUST00000050472
AA Change: C360*

SMART Domains

Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: C360*

Domain	Start	End	E-Value	Type
low complexity region	174	192	N/A	INTRINSIC
Pfam:Peptidase_C98	213	486	7e-139	PFAM
Pfam:DUF4650	557	1087	1.9e-213	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000100410
AA Change: C360*

SMART Domains

Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: C360*

Domain	Start	End	E-Value	Type
low complexity region	174	192	N/A	INTRINSIC
Pfam:Peptidase_C98	213	486	1.4e-139	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000117878
AA Change: C161*

SMART Domains

Protein: ENSMUSP00000113176
Gene: ENSMUSG00000041264
AA Change: C161*

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C98	14	287	5.6e-140	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000119685
AA Change: C346*

SMART Domains

Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: C346*

Domain	Start	End	E-Value	Type
low complexity region	160	178	N/A	INTRINSIC
Pfam:Peptidase_C98	199	472	6.9e-139	PFAM
Pfam:DUF4650	543	1073	1.8e-213	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000121416
AA Change: C161*

SMART Domains

Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: C161*

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C98	14	287	8.5e-139	PFAM
Pfam:DUF4650	358	888	1.5e-213	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000122160
AA Change: C360*

SMART Domains

Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: C360*

Domain	Start	End	E-Value	Type
low complexity region	174	192	N/A	INTRINSIC
Pfam:Peptidase_C98	214	486	2.5e-125	PFAM
Pfam:DUF4650	558	1087	1e-205	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126168

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,232,080	D2460G	probably damaging	Het
4930407I10Rik	A	G	15: 82,066,240	D1446G	probably benign	Het
Adgrg1	A	G	8: 95,011,784	Y635C	probably damaging	Het
Akr1cl	G	A	1: 65,016,678	R222W	probably damaging	Het
C2	G	A	17: 34,876,010	R250C	probably damaging	Het
Cdk15	A	G	1: 59,289,695	Y254C	probably damaging	Het
Celsr1	T	C	15: 85,907,673	T2576A	possibly damaging	Het
Cfap61	C	T	2: 146,153,838	R1108C	probably benign	Het
Clca1	A	G	3: 145,027,427	S107P	possibly damaging	Het
Cpsf1	A	G	15: 76,601,750	S407P	probably benign	Het
Crisp4	T	C	1: 18,122,738	T252A	probably damaging	Het
Ctbs	A	G	3: 146,458,818	Y242C	probably damaging	Het
Cul4a	A	G	8: 13,136,874	T537A	probably benign	Het
D930020B18Rik	T	C	10: 121,667,745	I275T	possibly damaging	Het
Dcaf7	T	C	11: 106,053,735	V248A	probably benign	Het
Def8	T	C	8: 123,454,322	C153R	probably damaging	Het
Dennd1a	A	T	2: 37,816,979	V505D	possibly damaging	Het
Dpysl5	A	C	5: 30,778,887	D207A	probably benign	Het
Dync2h1	A	T	9: 7,041,720	S3307R	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Erf	A	T	7: 25,246,131	C72S	probably damaging	Het
Fastkd3	A	T	13: 68,591,960	H47L	unknown	Het
Gm5591	C	T	7: 38,519,509	E647K	probably benign	Het
Gng12	TGTCCAGCAAG	TG	6: 67,015,752		probably benign	Het
Guk1	T	C	11: 59,186,024	T78A	probably benign	Het
Hephl1	T	C	9: 15,098,051	T82A	probably damaging	Het
Htra4	A	G	8: 25,037,165	S205P	probably benign	Het
Jakmip2	T	C	18: 43,577,325	D271G	probably damaging	Het
Krt16	CAGTATCTG	C	11: 100,246,784		probably null	Het
Lrp1b	T	A	2: 41,671,057	E286V		Het
Lrp2	C	A	2: 69,432,213	G4415W	probably damaging	Het
Lrp2	C	T	2: 69,459,674	R3607H	probably damaging	Het
Mcph1	A	G	8: 18,671,093	K646E	probably benign	Het
Mgam	T	C	6: 40,746,332	L457P	probably damaging	Het
Mink1	T	A	11: 70,609,629	S802T	probably benign	Het
Mrgprb5	C	T	7: 48,168,504	G161E	possibly damaging	Het
Mroh1	G	A	15: 76,452,272	G1565D	possibly damaging	Het
Mynn	A	G	3: 30,607,052	K51R	probably benign	Het
Myo1b	A	G	1: 51,763,906	F872S	possibly damaging	Het
Nbas	A	T	12: 13,393,498	T1185S	probably benign	Het
Oas1d	A	T	5: 120,919,991	I333L	probably benign	Het
Olfr1331	A	T	4: 118,868,822	I14F	possibly damaging	Het
Olfr1425	A	G	19: 12,073,697	*312Q	probably null	Het
P2ry12	A	G	3: 59,217,211	*348Q	probably null	Het
Pik3cb	A	T	9: 99,046,658	V848E	probably damaging	Het
Plcz1	A	C	6: 140,013,586	S282A	possibly damaging	Het
Prss46	A	G	9: 110,850,121	D130G	probably damaging	Het
Pygl	T	C	12: 70,197,010	I644V	probably benign	Het
Ralgds	T	A	2: 28,545,889	S509T	probably damaging	Het
Rdh16f2	A	G	10: 127,876,898	D255G	probably benign	Het
Scaf4	T	C	16: 90,258,770	D133G	unknown	Het
Sdk1	G	A	5: 142,144,976	S1630N	probably damaging	Het
Sema5b	C	T	16: 35,647,203	T279I	probably damaging	Het
Slc24a3	T	A	2: 145,580,982	L207H	probably damaging	Het
Speer2	A	T	16: 69,858,077	S167T	possibly damaging	Het
Spock1	A	G	13: 57,436,085	I339T	unknown	Het
Srsf6	T	A	2: 162,934,716	S327T	unknown	Het
Syne1	T	A	10: 5,222,266	E5058D	probably benign	Het
Tcf19	A	G	17: 35,514,531	V243A	probably benign	Het
Tspan15	T	C	10: 62,193,955	D122G	probably benign	Het
Ttc17	C	T	2: 94,375,150	V284M	probably damaging	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Vmn1r181	A	C	7: 23,984,931	S274R	probably benign	Het
Xrcc5	T	C	1: 72,393,973		probably null	Het
Zfp277	C	T	12: 40,328,730	R376H	probably damaging	Het
Zfp629	T	C	7: 127,611,029	E536G	probably benign	Het

Other mutations in Uspl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00478:Uspl1	APN	5	149215214	missense	possibly damaging	0.95
IGL00571:Uspl1	APN	5	149188360	missense	probably damaging	0.99
IGL01134:Uspl1	APN	5	149204293	missense	probably damaging	1.00
IGL02222:Uspl1	APN	5	149194044	missense	probably benign	0.25
IGL02383:Uspl1	APN	5	149213402	missense	probably damaging	0.98
IGL02538:Uspl1	APN	5	149188459	missense	probably damaging	1.00
IGL02546:Uspl1	APN	5	149204304	missense	possibly damaging	0.95
IGL02585:Uspl1	APN	5	149214062	nonsense	probably null
IGL02971:Uspl1	APN	5	149188346	missense	possibly damaging	0.84
R0020:Uspl1	UTSW	5	149209779	missense	probably damaging	1.00
R0070:Uspl1	UTSW	5	149209705	missense	probably damaging	1.00
R0142:Uspl1	UTSW	5	149188349	missense	possibly damaging	0.68
R0433:Uspl1	UTSW	5	149214815	missense	probably damaging	1.00
R0554:Uspl1	UTSW	5	149187834	missense	probably damaging	1.00
R0612:Uspl1	UTSW	5	149214957	missense	probably damaging	1.00
R1195:Uspl1	UTSW	5	149194321	missense	probably benign	0.24
R1195:Uspl1	UTSW	5	149194321	missense	probably benign	0.24
R1195:Uspl1	UTSW	5	149194321	missense	probably benign	0.24
R1465:Uspl1	UTSW	5	149214032	missense	probably benign	0.12
R1465:Uspl1	UTSW	5	149214032	missense	probably benign	0.12
R1623:Uspl1	UTSW	5	149215199	missense	probably damaging	1.00
R1737:Uspl1	UTSW	5	149201858	missense	probably damaging	1.00
R1793:Uspl1	UTSW	5	149213436	missense	probably damaging	1.00
R1823:Uspl1	UTSW	5	149214414	missense	probably benign	0.25
R2088:Uspl1	UTSW	5	149209750	missense	probably damaging	1.00
R2099:Uspl1	UTSW	5	149214758	missense	probably damaging	1.00
R2497:Uspl1	UTSW	5	149187854	missense	probably damaging	0.98
R2944:Uspl1	UTSW	5	149201796	missense	probably damaging	1.00
R3437:Uspl1	UTSW	5	149214697	utr 3 prime	probably benign
R4132:Uspl1	UTSW	5	149204349	missense	probably damaging	0.99
R4458:Uspl1	UTSW	5	149214152	missense	possibly damaging	0.82
R4537:Uspl1	UTSW	5	149187778	missense	possibly damaging	0.66
R4623:Uspl1	UTSW	5	149214595	missense	probably damaging	0.99
R4633:Uspl1	UTSW	5	149214392	missense	probably damaging	1.00
R4737:Uspl1	UTSW	5	149194339	missense	possibly damaging	0.86
R4743:Uspl1	UTSW	5	149209756	missense	probably damaging	1.00
R5200:Uspl1	UTSW	5	149214113	missense	probably benign	0.02
R5222:Uspl1	UTSW	5	149214101	missense	possibly damaging	0.77
R5337:Uspl1	UTSW	5	149214746	missense	probably damaging	0.99
R5496:Uspl1	UTSW	5	149209779	missense	probably damaging	1.00
R5654:Uspl1	UTSW	5	149209711	missense	probably damaging	1.00
R5845:Uspl1	UTSW	5	149193960	missense	probably benign	0.01
R6266:Uspl1	UTSW	5	149204366	missense	probably damaging	1.00
R6331:Uspl1	UTSW	5	149214287	missense	probably benign	0.40
R6338:Uspl1	UTSW	5	149215034	missense	probably benign	0.03
R6774:Uspl1	UTSW	5	149214094	missense	probably benign	0.00
R6855:Uspl1	UTSW	5	149187845	missense	probably damaging	1.00
R7131:Uspl1	UTSW	5	149193935	missense	probably benign	0.00
R7152:Uspl1	UTSW	5	149187778	missense	possibly damaging	0.66
R7661:Uspl1	UTSW	5	149215017	missense	probably benign	0.15
R8095:Uspl1	UTSW	5	149214182	nonsense	probably null
R8126:Uspl1	UTSW	5	149214620	missense	probably damaging	1.00
R8316:Uspl1	UTSW	5	149198681	missense	possibly damaging	0.75
R8479:Uspl1	UTSW	5	149215194	missense	probably damaging	1.00
X0019:Uspl1	UTSW	5	149214267	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCCTTCTGTGCATGTCAG -3'
(R):5'- CTGAAGGGTAAGTGGTGCTCAC -3'

Sequencing Primer
(F):5'- CAGTTGGTGTGGAGGCTCC -3'
(R):5'- CGAGGAACTGTACATGCATCTTC -3'

Posted On

2019-10-07