Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02222:Uspl1'

285193

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uspl1

Ensembl Gene

ENSMUSG00000041264

Gene Name

ubiquitin specific peptidase like 1

Synonyms

E430026A01Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.954) question?

Stock #

IGL02222

Quality Score

Status

Chromosome

Chromosomal Location

149184350-149215434 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 149194044 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 132 (V132L)

Ref Sequence

ENSEMBL: ENSMUSP00000114104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050472] [ENSMUST00000100410] [ENSMUST00000117878] [ENSMUST00000119685] [ENSMUST00000121416] [ENSMUST00000122160] [ENSMUST00000126168] [ENSMUST00000139474]

Predicted Effect

probably benign
Transcript: ENSMUST00000050472
AA Change: V146L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: V146L

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 benign
Transcript: ENSMUST00000100410
AA Change: V146L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: V146L

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 benign
Transcript: ENSMUST00000117878

SMART Domains

Protein: ENSMUSP00000113176
Gene: ENSMUSG00000041264

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119685
AA Change: V132L

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: V132L

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 benign
Transcript: ENSMUST00000121416

SMART Domains

Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264

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 benign
Transcript: ENSMUST00000122160
AA Change: V146L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: V146L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201232

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,282,886	R1682W	probably benign	Het
Angptl6	A	T	9: 20,873,907	M450K	probably damaging	Het
Armc12	C	A	17: 28,538,720	N275K	probably damaging	Het
Cd27	T	C	6: 125,234,532	H144R	probably damaging	Het
Cenpf	T	C	1: 189,654,444	K1880E	probably benign	Het
Dchs1	A	T	7: 105,764,887	I907N	probably damaging	Het
Dpy19l4	A	C	4: 11,281,116	F443C	possibly damaging	Het
Eif3i	C	T	4: 129,592,088	D315N	possibly damaging	Het
Fam217a	A	G	13: 34,911,119	L128P	probably damaging	Het
Fam46b	T	C	4: 133,486,553	V245A	probably damaging	Het
Fetub	C	T	16: 22,932,328	L62F	probably damaging	Het
Fmn1	A	T	2: 113,593,109	I1047F	probably damaging	Het
G2e3	A	G	12: 51,363,233	H267R	probably damaging	Het
Gigyf2	A	G	1: 87,410,863		probably null	Het
Gm10650	T	C	3: 128,040,140		noncoding transcript	Het
Grip1	C	T	10: 119,999,809	T470I	probably damaging	Het
Hmcn1	T	G	1: 150,806,401	D466A	probably benign	Het
Lrrc63	T	C	14: 75,086,140	Y548C	probably damaging	Het
Naaa	T	C	5: 92,259,550		probably benign	Het
Parpbp	T	A	10: 88,140,085	E55D	possibly damaging	Het
Pnpt1	G	A	11: 29,130,842	A29T	probably benign	Het
Pnpt1	A	T	11: 29,159,327	D691V	possibly damaging	Het
Pramef6	A	G	4: 143,895,846	M313T	possibly damaging	Het
Psg25	T	C	7: 18,529,727	N57S	probably damaging	Het
Selenbp2	T	A	3: 94,699,962	V168E	probably damaging	Het
Syne2	G	A	12: 75,952,843	E2337K	probably damaging	Het
Synj2	A	G	17: 6,037,480	T1269A	probably benign	Het
Tnfrsf13c	C	A	15: 82,223,163	V144L	probably damaging	Het
Vmn2r58	T	A	7: 41,864,025	Y398F	possibly damaging	Het
Vps13a	T	A	19: 16,682,175	T1663S	probably benign	Het
Ythdc1	G	A	5: 86,828,043	R503H	possibly damaging	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
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
R7446:Uspl1	UTSW	5	149204272	nonsense	probably null
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

Posted On

2015-04-16