Mutagenetix > Incidental Mutation

Incidental Mutation 'R2944:Uspl1'

264621

Institutional Source

Beutler Lab

Gene Symbol

Uspl1

Ensembl Gene

ENSMUSG00000041264

Gene Name

ubiquitin specific peptidase like 1

Synonyms

E430026A01Rik

MMRRC Submission

040518-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R2944 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

149121338-149152246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 149138606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 328 (L328P)

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

probably damaging
Transcript: ENSMUST00000050472
AA Change: L328P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: L328P

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 damaging
Transcript: ENSMUST00000100410
AA Change: L328P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: L328P

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 damaging
Transcript: ENSMUST00000117878
AA Change: L129P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113176
Gene: ENSMUSG00000041264
AA Change: L129P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119685
AA Change: L314P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: L314P

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 damaging
Transcript: ENSMUST00000121416
AA Change: L129P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: L129P

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 damaging
Transcript: ENSMUST00000122160
AA Change: L328P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: L328P

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	C	7: 133,577,236 (GRCm39)	M179V	probably null	Het
Alms1	C	T	6: 85,605,373 (GRCm39)	T2341I	probably damaging	Het
Bpnt1	A	G	1: 185,084,406 (GRCm39)	T168A	probably damaging	Het
Cdcp2	A	C	4: 106,959,755 (GRCm39)	S57R	possibly damaging	Het
Cmya5	T	A	13: 93,229,350 (GRCm39)	K1913*	probably null	Het
Coro1c	C	G	5: 113,988,861 (GRCm39)	G161R	probably damaging	Het
Csnk1a1	T	C	18: 61,711,760 (GRCm39)	M258T	probably benign	Het
Dnah3	A	G	7: 119,550,333 (GRCm39)	C3318R	probably damaging	Het
Fyco1	A	T	9: 123,655,713 (GRCm39)	M1015K	probably benign	Het
Hfm1	A	G	5: 107,020,196 (GRCm39)	S290P	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lce1i	G	A	3: 92,685,063 (GRCm39)	P38S	unknown	Het
Nup210l	T	A	3: 90,088,852 (GRCm39)	S1156T	probably damaging	Het
Or8g35	A	T	9: 39,381,234 (GRCm39)	S263T	possibly damaging	Het
Sec14l5	T	A	16: 4,998,697 (GRCm39)	I579N	probably benign	Het
Semp2l2a	A	T	8: 13,887,212 (GRCm39)	L293Q	probably damaging	Het
Sh3tc1	C	A	5: 35,871,504 (GRCm39)	V107L	probably damaging	Het
Tmprss11a	T	G	5: 86,576,511 (GRCm39)	R113S	probably benign	Het
Trmt10b	A	G	4: 45,300,445 (GRCm39)	M1V	probably null	Het
Ush1c	T	C	7: 45,850,406 (GRCm39)	E791G	probably damaging	Het
Utrn	G	T	10: 12,519,163 (GRCm39)	T2263K	probably damaging	Het

Other mutations in Uspl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00478:Uspl1	APN	5	149,152,024 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- TTGACACAACCTTCCTCCAGG -3'
(R):5'- GCAACCTTGTCTCCATCCAAG -3'

Sequencing Primer
(F):5'- GCCTACCCTGACTGGCTGAC -3'
(R):5'- TGAGACACAGTGTAATGTATGTGC -3'

Posted On

2015-02-05