Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Uspl1'

365825

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

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

149184350-149215434 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149188346 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 35 (N35S)

Ref Sequence

ENSEMBL: ENSMUSP00000120808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050472] [ENSMUST00000100410] [ENSMUST00000117878] [ENSMUST00000119685] [ENSMUST00000121416] [ENSMUST00000122160] [ENSMUST00000126168] [ENSMUST00000139474] [ENSMUST00000202133]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050472
AA Change: N35S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: N35S

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

possibly damaging
Transcript: ENSMUST00000100410
AA Change: N35S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: N35S

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: N21S

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: N21S

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

possibly damaging
Transcript: ENSMUST00000122160
AA Change: N35S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: N35S

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

possibly damaging
Transcript: ENSMUST00000126168
AA Change: N35S

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000139474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201232

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200759

Predicted Effect

probably benign
Transcript: ENSMUST00000202133

SMART Domains

Protein: ENSMUSP00000144412
Gene: ENSMUSG00000066551

Domain	Start	End	E-Value	Type
HMG	22	94	3.6e-28	SMART
HMG	108	178	1.7e-32	SMART
low complexity region	183	210	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	C	T	2: 104,123,219	T130I	probably benign	Het
Ahi1	T	C	10: 21,000,551	L787P	possibly damaging	Het
Atf3	A	G	1: 191,177,443	S10P	probably benign	Het
Cdr2l	A	G	11: 115,390,900	N77S	probably damaging	Het
Cnp	A	G	11: 100,576,699	D156G	probably benign	Het
Cntn3	A	T	6: 102,168,933	D982E	probably damaging	Het
Col22a1	A	G	15: 72,006,738	L190S	probably damaging	Het
Csmd3	C	T	15: 47,913,929		probably benign	Het
Dnah5	A	G	15: 28,384,461	D3117G	probably damaging	Het
Dock5	T	C	14: 67,757,109	E1834G	probably null	Het
Eea1	A	G	10: 96,041,527	T1368A	probably benign	Het
Fam83f	T	C	15: 80,672,149	V78A	probably benign	Het
Fcgbp	G	A	7: 28,101,473	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,548,923	Y364*	probably null	Het
Gm21976	G	A	13: 98,302,549	G16R	probably null	Het
Guca2b	A	G	4: 119,657,688	S59P	probably damaging	Het
Hars2	A	G	18: 36,786,178	E123G	probably damaging	Het
Hdac2	A	T	10: 37,000,374	K462*	probably null	Het
Huwe1	T	A	X: 151,927,626		probably benign	Het
Iqgap3	T	A	3: 88,090,304	N262K	probably benign	Het
Kat6b	A	G	14: 21,669,758	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,257,080	D328E	probably benign	Het
Mgea5	A	G	19: 45,762,243	F671S	probably damaging	Het
Naca	C	T	10: 128,041,568		probably benign	Het
Npffr1	T	C	10: 61,614,139	V64A	probably damaging	Het
Olfr331	A	G	11: 58,502,385	L57P	probably damaging	Het
Olfr918	T	A	9: 38,673,268	M72L	probably damaging	Het
Pcca	A	G	14: 122,889,533	D718G	probably damaging	Het
Pde6a	A	C	18: 61,264,255	D670A	probably damaging	Het
Pramel7	T	A	2: 87,490,073	E292V	probably benign	Het
Prmt9	A	C	8: 77,565,069	M357L	probably benign	Het
Ptgfr	A	T	3: 151,835,326	S182T	probably benign	Het
Rtraf	A	T	14: 19,816,192	M152K	possibly damaging	Het
Satb1	T	C	17: 51,742,689	D579G	possibly damaging	Het
Serpinb6a	A	G	13: 33,931,470		probably null	Het
Slc5a9	T	C	4: 111,890,300	I297V	possibly damaging	Het
Slf1	T	A	13: 77,047,104		probably benign	Het
St8sia2	C	T	7: 73,966,811	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,689,280	M262V	probably benign	Het
Tmem147	A	G	7: 30,729,422		probably benign	Het
Tmem220	A	G	11: 67,034,107		probably null	Het
Vmn1r170	A	T	7: 23,606,334	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 124,127,894	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,305,744	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,300,966	M57K	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
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
R8926:Uspl1	UTSW	5	149201891	critical splice donor site	probably null
R9140:Uspl1	UTSW	5	149213480	missense	possibly damaging	0.57
R9178:Uspl1	UTSW	5	149204338	missense	probably damaging	1.00
R9196:Uspl1	UTSW	5	149214539	missense	probably benign	0.02
R9359:Uspl1	UTSW	5	149209671	missense	probably damaging	1.00
R9384:Uspl1	UTSW	5	149214539	missense	probably benign	0.02
R9608:Uspl1	UTSW	5	149215060	missense	probably benign	0.17
X0019:Uspl1	UTSW	5	149214267	missense	probably damaging	1.00

Posted On

2015-12-18