Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00478:Uspl1'

6381

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: 0.951) question?

Stock #

IGL00478

Quality Score

Status

Chromosome

Chromosomal Location

149121338-149152246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 149152024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1075 (T1075S)

Ref Sequence

ENSEMBL: ENSMUSP00000113247 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050472
AA Change: T1075S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: T1075S

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

SMART Domains

Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264

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

possibly damaging
Transcript: ENSMUST00000119685
AA Change: T1061S

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: T1061S

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

possibly damaging
Transcript: ENSMUST00000121416
AA Change: T876S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: T876S

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: T1075S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: T1075S

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

noncoding transcript
Transcript: ENSMUST00000150921

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,774,604 (GRCm39)	T578A	possibly damaging	Het
Ablim1	C	T	19: 57,056,618 (GRCm39)	A359T	probably damaging	Het
Akap9	G	A	5: 4,096,639 (GRCm39)	V2505M	probably damaging	Het
Alpk2	A	T	18: 65,440,297 (GRCm39)	C365*	probably null	Het
C920021L13Rik	A	T	3: 95,794,797 (GRCm39)		probably benign	Het
Chd3	A	T	11: 69,247,888 (GRCm39)	V905E	probably damaging	Het
Cntrl	T	C	2: 35,050,613 (GRCm39)	V1529A	probably damaging	Het
Coro2a	T	C	4: 46,540,455 (GRCm39)	D488G	probably benign	Het
Dpf1	G	T	7: 29,015,981 (GRCm39)		probably benign	Het
Fga	T	A	3: 82,935,951 (GRCm39)	D59E	probably benign	Het
Ggh	T	A	4: 20,057,965 (GRCm39)	H175Q	probably benign	Het
Glyat	T	C	19: 12,625,497 (GRCm39)		probably benign	Het
Gpr137c	T	C	14: 45,516,202 (GRCm39)	V312A	probably damaging	Het
Myt1	T	C	2: 181,442,908 (GRCm39)	S466P	probably damaging	Het
Nlrp5	A	T	7: 23,141,213 (GRCm39)	D1078V	probably damaging	Het
Rad17	T	C	13: 100,769,782 (GRCm39)	D259G	probably damaging	Het
Rpp14	G	A	14: 8,083,934 (GRCm38)	G30E	possibly damaging	Het
Vash1	T	A	12: 86,727,042 (GRCm39)	I94N	possibly damaging	Het
Zfp770	T	C	2: 114,027,946 (GRCm39)	E41G	probably damaging	Het

Other mutations in Uspl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Uspl1	APN	5	149,125,170 (GRCm39)	missense	probably damaging	0.99
IGL01134:Uspl1	APN	5	149,141,103 (GRCm39)	missense	probably damaging	1.00
IGL02222:Uspl1	APN	5	149,130,854 (GRCm39)	missense	probably benign	0.25
IGL02383:Uspl1	APN	5	149,150,212 (GRCm39)	missense	probably damaging	0.98
IGL02538:Uspl1	APN	5	149,125,269 (GRCm39)	missense	probably damaging	1.00
IGL02546:Uspl1	APN	5	149,141,114 (GRCm39)	missense	possibly damaging	0.95
IGL02585:Uspl1	APN	5	149,150,872 (GRCm39)	nonsense	probably null
IGL02971:Uspl1	APN	5	149,125,156 (GRCm39)	missense	possibly damaging	0.84
R0020:Uspl1	UTSW	5	149,146,589 (GRCm39)	missense	probably damaging	1.00
R0070:Uspl1	UTSW	5	149,146,515 (GRCm39)	missense	probably damaging	1.00
R0142:Uspl1	UTSW	5	149,125,159 (GRCm39)	missense	possibly damaging	0.68
R0433:Uspl1	UTSW	5	149,151,625 (GRCm39)	missense	probably damaging	1.00
R0554:Uspl1	UTSW	5	149,124,644 (GRCm39)	missense	probably damaging	1.00
R0612:Uspl1	UTSW	5	149,151,767 (GRCm39)	missense	probably damaging	1.00
R1195:Uspl1	UTSW	5	149,131,131 (GRCm39)	missense	probably benign	0.24
R1195:Uspl1	UTSW	5	149,131,131 (GRCm39)	missense	probably benign	0.24
R1195:Uspl1	UTSW	5	149,131,131 (GRCm39)	missense	probably benign	0.24
R1465:Uspl1	UTSW	5	149,150,842 (GRCm39)	missense	probably benign	0.12
R1465:Uspl1	UTSW	5	149,150,842 (GRCm39)	missense	probably benign	0.12
R1623:Uspl1	UTSW	5	149,152,009 (GRCm39)	missense	probably damaging	1.00
R1737:Uspl1	UTSW	5	149,138,668 (GRCm39)	missense	probably damaging	1.00
R1793:Uspl1	UTSW	5	149,150,246 (GRCm39)	missense	probably damaging	1.00
R1823:Uspl1	UTSW	5	149,151,224 (GRCm39)	missense	probably benign	0.25
R2088:Uspl1	UTSW	5	149,146,560 (GRCm39)	missense	probably damaging	1.00
R2099:Uspl1	UTSW	5	149,151,568 (GRCm39)	missense	probably damaging	1.00
R2497:Uspl1	UTSW	5	149,124,664 (GRCm39)	missense	probably damaging	0.98
R2944:Uspl1	UTSW	5	149,138,606 (GRCm39)	missense	probably damaging	1.00
R3437:Uspl1	UTSW	5	149,151,507 (GRCm39)	utr 3 prime	probably benign
R4132:Uspl1	UTSW	5	149,141,159 (GRCm39)	missense	probably damaging	0.99
R4458:Uspl1	UTSW	5	149,150,962 (GRCm39)	missense	possibly damaging	0.82
R4537:Uspl1	UTSW	5	149,124,588 (GRCm39)	missense	possibly damaging	0.66
R4623:Uspl1	UTSW	5	149,151,405 (GRCm39)	missense	probably damaging	0.99
R4633:Uspl1	UTSW	5	149,151,202 (GRCm39)	missense	probably damaging	1.00
R4737:Uspl1	UTSW	5	149,131,149 (GRCm39)	missense	possibly damaging	0.86
R4743:Uspl1	UTSW	5	149,146,566 (GRCm39)	missense	probably damaging	1.00
R5200:Uspl1	UTSW	5	149,150,923 (GRCm39)	missense	probably benign	0.02
R5222:Uspl1	UTSW	5	149,150,911 (GRCm39)	missense	possibly damaging	0.77
R5337:Uspl1	UTSW	5	149,151,556 (GRCm39)	missense	probably damaging	0.99
R5496:Uspl1	UTSW	5	149,146,589 (GRCm39)	missense	probably damaging	1.00
R5654:Uspl1	UTSW	5	149,146,521 (GRCm39)	missense	probably damaging	1.00
R5845:Uspl1	UTSW	5	149,130,770 (GRCm39)	missense	probably benign	0.01
R6266:Uspl1	UTSW	5	149,141,176 (GRCm39)	missense	probably damaging	1.00
R6331:Uspl1	UTSW	5	149,151,097 (GRCm39)	missense	probably benign	0.40
R6338:Uspl1	UTSW	5	149,151,844 (GRCm39)	missense	probably benign	0.03
R6774:Uspl1	UTSW	5	149,150,904 (GRCm39)	missense	probably benign	0.00
R6855:Uspl1	UTSW	5	149,124,655 (GRCm39)	missense	probably damaging	1.00
R7131:Uspl1	UTSW	5	149,130,745 (GRCm39)	missense	probably benign	0.00
R7152:Uspl1	UTSW	5	149,124,588 (GRCm39)	missense	possibly damaging	0.66
R7446:Uspl1	UTSW	5	149,141,082 (GRCm39)	nonsense	probably null
R7661:Uspl1	UTSW	5	149,151,827 (GRCm39)	missense	probably benign	0.15
R8095:Uspl1	UTSW	5	149,150,992 (GRCm39)	nonsense	probably null
R8126:Uspl1	UTSW	5	149,151,430 (GRCm39)	missense	probably damaging	1.00
R8316:Uspl1	UTSW	5	149,135,491 (GRCm39)	missense	possibly damaging	0.75
R8479:Uspl1	UTSW	5	149,152,004 (GRCm39)	missense	probably damaging	1.00
R8926:Uspl1	UTSW	5	149,138,701 (GRCm39)	critical splice donor site	probably null
R9140:Uspl1	UTSW	5	149,150,290 (GRCm39)	missense	possibly damaging	0.57
R9178:Uspl1	UTSW	5	149,141,148 (GRCm39)	missense	probably damaging	1.00
R9196:Uspl1	UTSW	5	149,151,349 (GRCm39)	missense	probably benign	0.02
R9359:Uspl1	UTSW	5	149,146,481 (GRCm39)	missense	probably damaging	1.00
R9384:Uspl1	UTSW	5	149,151,349 (GRCm39)	missense	probably benign	0.02
R9608:Uspl1	UTSW	5	149,151,870 (GRCm39)	missense	probably benign	0.17
X0019:Uspl1	UTSW	5	149,151,077 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20