Mutagenetix > Incidental Mutation

Incidental Mutation 'R1823:Uspl1'

206564

Institutional Source

Beutler Lab

Gene Symbol

Uspl1

Ensembl Gene

ENSMUSG00000041264

Gene Name

ubiquitin specific peptidase like 1

Synonyms

E430026A01Rik

MMRRC Submission

039851-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R1823 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

149121338-149152246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 149151224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 794 (L794Q)

Ref Sequence

ENSEMBL: ENSMUSP00000114104 (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 benign
Transcript: ENSMUST00000050472
AA Change: L808Q

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: L808Q

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

probably benign
Transcript: ENSMUST00000119685
AA Change: L794Q

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: L794Q

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
AA Change: L609Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: L609Q

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: L808Q

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: L808Q

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,111,312 (GRCm39)	V868I	probably benign	Het
Ahnak	G	T	19: 8,982,269 (GRCm39)	M1184I	probably damaging	Het
Akap11	T	C	14: 78,748,928 (GRCm39)	E1153G	probably damaging	Het
Amy1	T	C	3: 113,356,376 (GRCm39)	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427 (GRCm39)	L129P	probably damaging	Het
Aox1	A	T	1: 58,351,518 (GRCm39)	T702S	probably benign	Het
Apobec1	G	T	6: 122,555,845 (GRCm39)	T204K	possibly damaging	Het
Arhgef19	A	G	4: 140,976,457 (GRCm39)	R433G	probably benign	Het
Atf6b	T	A	17: 34,867,618 (GRCm39)	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,694,826 (GRCm39)		probably null	Het
Camsap2	T	C	1: 136,201,521 (GRCm39)	T662A	possibly damaging	Het
Cbs	G	A	17: 31,843,245 (GRCm39)	H229Y	probably damaging	Het
Cct8	G	A	16: 87,287,442 (GRCm39)	R111*	probably null	Het
Cdc42bpb	C	T	12: 111,293,993 (GRCm39)	A250T	probably damaging	Het
Chrd	A	G	16: 20,560,097 (GRCm39)		probably benign	Het
Ckap2l	A	G	2: 129,117,499 (GRCm39)	F559L	probably damaging	Het
Cltrn	A	G	X: 162,901,230 (GRCm39)	D184G	possibly damaging	Het
D630003M21Rik	T	C	2: 158,059,477 (GRCm39)	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,447,539 (GRCm39)	N557S	probably benign	Het
Dct	T	G	14: 118,273,935 (GRCm39)	N324T	probably benign	Het
Dip2a	A	T	10: 76,114,336 (GRCm39)	L999*	probably null	Het
Dock10	T	A	1: 80,520,814 (GRCm39)		probably null	Het
Dync2li1	A	T	17: 84,957,225 (GRCm39)	D330V	probably damaging	Het
Eif4g3	T	A	4: 137,907,802 (GRCm39)	D1267E	probably benign	Het
Enc1	A	G	13: 97,382,486 (GRCm39)	E332G	possibly damaging	Het
Fat2	C	T	11: 55,147,606 (GRCm39)	V3879I	probably benign	Het
Fh1	A	T	1: 175,444,114 (GRCm39)	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,255,328 (GRCm39)	L227P	probably damaging	Het
Fpr1	T	A	17: 18,097,315 (GRCm39)	M225L	probably benign	Het
Fras1	A	T	5: 96,918,547 (GRCm39)	I3528F	probably damaging	Het
Grm7	A	G	6: 111,184,730 (GRCm39)	T354A	probably benign	Het
Ift27	T	A	15: 78,057,978 (GRCm39)	I9F	possibly damaging	Het
Igf1r	A	G	7: 67,844,729 (GRCm39)	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,243,028 (GRCm39)	L738Q	probably damaging	Het
Itgam	A	T	7: 127,663,904 (GRCm39)	T44S	probably benign	Het
Ivd	T	A	2: 118,692,515 (GRCm39)	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780 (GRCm39)	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,995,524 (GRCm39)	V251A	probably benign	Het
Mycbp2	A	G	14: 103,489,945 (GRCm39)	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,715,923 (GRCm39)		probably benign	Het
Myo3a	A	T	2: 22,345,091 (GRCm39)	Y509F	probably damaging	Het
Myocd	C	A	11: 65,069,496 (GRCm39)	M909I	probably benign	Het
Ndufv3	G	A	17: 31,750,219 (GRCm39)	R467Q	probably damaging	Het
Nkpd1	G	A	7: 19,257,177 (GRCm39)	V319M	probably damaging	Het
Or13p4	T	A	4: 118,547,389 (GRCm39)	N87Y	probably damaging	Het
Or1af1	T	C	2: 37,110,344 (GRCm39)	V281A	probably damaging	Het
Or1p1c	C	T	11: 74,161,043 (GRCm39)	A276V	probably damaging	Het
Or2q1	G	T	6: 42,795,202 (GRCm39)	A266S	possibly damaging	Het
Or2t1	T	A	14: 14,328,774 (GRCm38)	L221Q	probably damaging	Het
Or4c111	A	G	2: 88,843,722 (GRCm39)	S229P	probably benign	Het
Or5b101	C	A	19: 13,005,181 (GRCm39)	V171L	probably benign	Het
Parp4	T	C	14: 56,827,329 (GRCm39)		probably benign	Het
Pcdhb9	A	G	18: 37,535,871 (GRCm39)	T622A	probably benign	Het
Pdpk1	A	T	17: 24,317,150 (GRCm39)		probably benign	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Plekhg1	G	T	10: 3,853,658 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,882,617 (GRCm39)	Y708C	probably damaging	Het
Pnp	T	C	14: 51,187,786 (GRCm39)	F107L	probably damaging	Het
Postn	T	A	3: 54,292,708 (GRCm39)		probably null	Het
Prcp	A	T	7: 92,577,883 (GRCm39)	D349V	probably damaging	Het
Prl3a1	A	T	13: 27,454,177 (GRCm39)	I52F	probably damaging	Het
Pym1	G	A	10: 128,601,913 (GRCm39)		probably benign	Het
Rad9a	A	T	19: 4,247,241 (GRCm39)	I248N	probably damaging	Het
Ror2	T	G	13: 53,264,341 (GRCm39)	E917A	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sema6d	A	G	2: 124,501,476 (GRCm39)		probably null	Het
Shisal1	T	C	15: 84,290,669 (GRCm39)	T213A	probably benign	Het
Slc4a2	C	T	5: 24,632,618 (GRCm39)	A12V	probably damaging	Het
Slco6b1	T	G	1: 96,888,901 (GRCm39)		noncoding transcript	Het
Slf2	A	T	19: 44,923,687 (GRCm39)	H167L	possibly damaging	Het
Snx9	G	T	17: 5,970,946 (GRCm39)	G429V	probably damaging	Het
Sod3	G	T	5: 52,525,504 (GRCm39)	V68L	probably benign	Het
Spta1	T	A	1: 174,074,115 (GRCm39)	D2351E	probably benign	Het
Srpk3	G	A	X: 72,821,561 (GRCm39)	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,788,005 (GRCm39)	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Tnfsf9	A	G	17: 57,412,738 (GRCm39)	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,552,595 (GRCm39)	L163P	possibly damaging	Het
Trim52	T	A	14: 106,344,401 (GRCm39)	C20S	probably damaging	Het
Ucp1	C	T	8: 84,020,661 (GRCm39)	T157I	probably damaging	Het
Vmn1r5	T	A	6: 56,962,580 (GRCm39)	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,413,405 (GRCm39)	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 86,687,080 (GRCm39)	I820M	probably damaging	Het
Wscd1	C	A	11: 71,651,044 (GRCm39)	P124T	probably benign	Het
Zfp780b	A	T	7: 27,662,525 (GRCm39)	C677S	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TCAGCCTCGGAAAGAAGATC -3'
(R):5'- AACCTGATCTTCAGCCGCATC -3'

Sequencing Primer
(F):5'- AGAGAGCCTTCGTGGGAAGTTG -3'
(R):5'- ATCTCCACGGCTTGCTGGAG -3'

Posted On

2014-06-23