Mutagenetix > Incidental Mutation

Incidental Mutation 'R5496:Uspl1'

432342

Institutional Source

Beutler Lab

Gene Symbol

Uspl1

Ensembl Gene

ENSMUSG00000041264

Gene Name

ubiquitin specific peptidase like 1

Synonyms

E430026A01Rik

MMRRC Submission

043057-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R5496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

149184350-149215434 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149209779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 447 (T447A)

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: T447A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: T447A

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: T447A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: T447A

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

possibly damaging
Transcript: ENSMUST00000117878
AA Change: T248A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113176
Gene: ENSMUSG00000041264
AA Change: T248A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119685
AA Change: T433A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: T433A

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: T248A

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

SMART Domains

Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: T248A

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: T447A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: T447A

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

0.3198

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,674,818	V84I	probably benign	Het
Adam10	T	G	9: 70,722,739	F151C	probably damaging	Het
Akap6	A	G	12: 53,140,653	S1617G	possibly damaging	Het
Ano6	T	A	15: 95,967,614		probably null	Het
Atmin	A	G	8: 116,957,172	T524A	probably benign	Het
Bicra	C	T	7: 15,987,841	V584I	probably benign	Het
Carmil1	G	A	13: 24,155,450	R54C	probably damaging	Het
Cbln1	A	G	8: 87,471,696	I127T	possibly damaging	Het
Ccl26	A	G	5: 135,563,363	V40A	probably benign	Het
Cdh7	T	A	1: 110,048,917	I104N	probably damaging	Het
Cdt1	C	T	8: 122,570,500	R311W	probably damaging	Het
Col12a1	A	G	9: 79,602,185		probably benign	Het
Csf2rb	A	G	15: 78,340,561	E173G	probably damaging	Het
Cyb561	A	G	11: 105,937,719	Y94H	probably damaging	Het
Cyp3a16	T	A	5: 145,467,531	K34M	probably damaging	Het
Diras2	C	T	13: 52,507,750	V174M	probably benign	Het
Dnah7a	T	G	1: 53,457,768	M3110L	probably benign	Het
Dyrk2	T	C	10: 118,860,051	E434G	probably damaging	Het
Ebag9	T	G	15: 44,640,420	*214E	probably null	Het
Egln3	A	T	12: 54,203,324	W80R	probably damaging	Het
Eps15l1	A	G	8: 72,382,775	Y336H	probably benign	Het
Gak	A	G	5: 108,576,617	S1076P	probably benign	Het
Glra1	T	C	11: 55,527,415	Y168C	probably damaging	Het
Glrx2	T	A	1: 143,745,207	M108K	probably damaging	Het
Gm3604	A	T	13: 62,371,579	S59T	possibly damaging	Het
Gm8212	A	T	14: 44,201,157		probably benign	Het
Gmcl1	G	T	6: 86,697,525	A457D	probably damaging	Het
H2-M11	T	C	17: 36,547,979	F137S	possibly damaging	Het
Ighv1-55	C	G	12: 115,208,520	W3S	probably damaging	Het
Il22	T	G	10: 118,205,097	V36G	possibly damaging	Het
Ints1	G	A	5: 139,755,198	A1904V	probably benign	Het
Iqgap2	A	G	13: 95,630,053	Y1481H	probably damaging	Het
Kcnn3	C	T	3: 89,609,490	A402V	possibly damaging	Het
Kif18b	A	T	11: 102,913,742	I362N	possibly damaging	Het
Kif5c	C	G	2: 49,730,190	A223G	possibly damaging	Het
Kntc1	A	G	5: 123,784,182	D948G	probably benign	Het
Krba1	A	G	6: 48,406,356	T229A	possibly damaging	Het
Leprot	T	A	4: 101,657,896	I113N	probably damaging	Het
Lrp1b	T	C	2: 40,927,973	D2415G	probably benign	Het
Maats1	A	G	16: 38,321,493	I359T	probably damaging	Het
Mnd1	T	A	3: 84,088,174	D171V	probably damaging	Het
Mthfsd	A	T	8: 121,098,814	Y339*	probably null	Het
Nfatc2	G	A	2: 168,536,278	T268M	probably damaging	Het
Olfr1097	G	T	2: 86,890,314	P287Q	probably damaging	Het
Olfr1097	G	C	2: 86,890,315	P287A	probably damaging	Het
Olfr116	T	C	17: 37,624,578	D19G	probably benign	Het
Olfr653	G	C	7: 104,580,494	A283P	probably damaging	Het
Pan3	G	A	5: 147,527,128		probably null	Het
Pde6a	A	T	18: 61,253,665		probably null	Het
Prss39	T	C	1: 34,500,261	I194T	possibly damaging	Het
Rfx8	T	C	1: 39,670,347	S507G	probably benign	Het
Rif1	T	C	2: 52,098,916	S774P	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Smurf1	C	A	5: 144,882,593	E601*	probably null	Het
Stau2	T	C	1: 16,390,021	S231G	probably damaging	Het
Timp2	T	G	11: 118,303,881	M161L	probably benign	Het
Tlr5	T	C	1: 182,973,632	L167P	probably damaging	Het
Trhr	G	A	15: 44,197,536	A151T	probably benign	Het
Unc13d	A	G	11: 116,066,708	V807A	probably damaging	Het
Usp2	T	C	9: 44,085,208	V7A	possibly damaging	Het
Zan	A	G	5: 137,436,345	I2232T	unknown	Het
Zfp12	C	A	5: 143,244,795	C292*	probably null	Het
Zfp850	A	C	7: 28,007,346	M43R	probably damaging	Het
Zic5	G	A	14: 122,459,343	T620M	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCGTGGCATGAAATTGATTTG -3'
(R):5'- ATCGCAGTCAGGAAGGACAC -3'

Sequencing Primer
(F):5'- GAAATTGATTTGACTTGTGCCTCC -3'
(R):5'- CACCACGGTTAAGAAAGAGGAAC -3'

Posted On

2016-10-05