Mutagenetix > Incidental Mutations

Incidental Mutation 'R0612:Uspl1'

54800

Institutional Source

Beutler Lab

Gene Symbol

Uspl1

Ensembl Gene

ENSMUSG00000041264

Gene Name

ubiquitin specific peptidase like 1

Synonyms

E430026A01Rik

MMRRC Submission

038801-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R0612 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

149184350-149215434 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149214957 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 989 (E989G)

Ref Sequence

ENSEMBL: ENSMUSP00000113247 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000050472
AA Change: E989G

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

SMART Domains

Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: E989G

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 damaging
Transcript: ENSMUST00000119685
AA Change: E975G

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

SMART Domains

Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: E975G

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: E790G

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

SMART Domains

Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: E790G

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: E989G

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

SMART Domains

Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: E989G

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

0.2309

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.2%
20x: 93.5%

Validation Efficiency

98% (92/94)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	G	11: 58,611,973		probably null	Het
Abca15	T	C	7: 120,337,255	L181P	probably damaging	Het
Aldh3a1	A	T	11: 61,214,619	I184F	probably damaging	Het
Arl6ip4	A	G	5: 124,116,533	S30G	probably benign	Het
Atp9b	T	C	18: 80,753,956	E891G	possibly damaging	Het
Brsk1	T	C	7: 4,707,426	L478P	possibly damaging	Het
Btaf1	G	A	19: 36,969,137	V448I	probably damaging	Het
C330027C09Rik	C	T	16: 48,999,039	A112V	probably benign	Het
Cab39	T	C	1: 85,818,515		probably null	Het
Cacna2d4	G	T	6: 119,281,718		probably benign	Het
Capzb	C	T	4: 139,291,029	S253L	probably benign	Het
Ccdc174	A	G	6: 91,890,892		probably benign	Het
Ccdc180	C	T	4: 45,927,969	A1168V	probably damaging	Het
Cdh19	T	C	1: 110,893,170		probably benign	Het
Cdh8	T	C	8: 99,400,914	T22A	probably benign	Het
Cdk10	T	C	8: 123,230,680	V181A	probably benign	Het
Ceacam15	A	C	7: 16,673,520	L24*	probably null	Het
Cftr	A	C	6: 18,198,126	T20P	probably benign	Het
Clstn3	T	C	6: 124,449,500	T576A	probably damaging	Het
Col1a2	G	A	6: 4,516,003	V165I	unknown	Het
Copg2	A	T	6: 30,861,469		probably null	Het
Cps1	A	G	1: 67,139,770	H47R	probably benign	Het
Cytip	T	C	2: 58,134,190	D206G	possibly damaging	Het
Dnmt1	C	T	9: 20,918,193	E824K	probably damaging	Het
Dock7	A	C	4: 98,989,233	V442G	probably benign	Het
Dsc1	T	G	18: 20,114,516	K14T	probably damaging	Het
Dync1h1	C	T	12: 110,616,496	P371L	probably damaging	Het
Enah	A	G	1: 181,906,448		probably benign	Het
Fam189a1	C	T	7: 64,761,801	V395M	probably benign	Het
Fastkd1	T	C	2: 69,712,383	T27A	probably benign	Het
Fcho1	A	G	8: 71,715,524	L248P	probably damaging	Het
Fezf1	A	T	6: 23,247,029	V268D	probably damaging	Het
Fgd2	T	A	17: 29,378,347	V547E	probably benign	Het
Flnb	T	A	14: 7,887,682		probably benign	Het
Gabrg3	A	G	7: 56,729,706	M316T	probably damaging	Het
Gigyf2	T	C	1: 87,449,080	F1265L	probably damaging	Het
Git2	A	G	5: 114,752,281	S271P	probably damaging	Het
Gm13103	G	T	4: 143,852,088		probably benign	Het
Gm14085	T	C	2: 122,521,698	M339T	probably damaging	Het
Gorab	T	C	1: 163,397,169	D21G	possibly damaging	Het
Gpr179	T	A	11: 97,338,438	T964S	possibly damaging	Het
Hdac5	A	G	11: 102,196,252	V1042A	possibly damaging	Het
Hoxa2	T	A	6: 52,163,560	T149S	probably damaging	Het
Igsf8	G	T	1: 172,319,407	*108L	probably null	Het
Il1rap	C	T	16: 26,701,105	T307M	possibly damaging	Het
Itih2	T	C	2: 10,117,394	D232G	probably benign	Het
Jak3	A	G	8: 71,683,377	Y607C	probably damaging	Het
Kcnh1	C	T	1: 192,277,053	P305L	probably damaging	Het
Lrrc7	T	A	3: 158,164,353	I644F	probably damaging	Het
Lrrn2	T	C	1: 132,937,728	L177P	probably damaging	Het
Map4k3	C	A	17: 80,602,193	K712N	probably damaging	Het
Med11	A	G	11: 70,452,084	T36A	probably benign	Het
Mmp14	A	G	14: 54,440,434	D504G	probably damaging	Het
Mob1a	A	G	6: 83,334,158	T120A	probably benign	Het
Mr1	T	A	1: 155,137,690	D47V	probably damaging	Het
Nacad	G	T	11: 6,601,382	A603E	possibly damaging	Het
Nwd1	T	A	8: 72,667,680	W524R	probably damaging	Het
Olfr1508	T	C	14: 52,463,551	T153A	probably benign	Het
Olfr525	T	A	7: 140,323,188	M163K	possibly damaging	Het
Olfr742	A	T	14: 50,515,482	T93S	probably benign	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pde6c	T	A	19: 38,133,246	C101S	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pdlim4	G	A	11: 54,068,887	R16C	probably damaging	Het
Pet2	G	A	X: 89,405,366	R386*	probably null	Het
Pfkp	A	G	13: 6,605,634		probably null	Het
Plcg2	T	A	8: 117,573,365	S225T	probably benign	Het
Pramel1	T	C	4: 143,397,531	S259P	probably damaging	Het
Rc3h2	T	C	2: 37,411,215	N92D	possibly damaging	Het
Ric8b	C	A	10: 85,001,881	N517K	probably damaging	Het
Rnf34	G	A	5: 122,864,174	R65H	probably damaging	Het
Rraga	C	T	4: 86,576,327	R137C	probably damaging	Het
Scube2	C	T	7: 109,804,764		probably benign	Het
Spata31d1d	T	C	13: 59,727,973	I583V	probably benign	Het
Suox	T	C	10: 128,670,656	E501G	probably benign	Het
Susd1	A	G	4: 59,390,561		probably benign	Het
Tac1	T	C	6: 7,555,653	S14P	probably damaging	Het
Tbc1d8	T	C	1: 39,372,515	E1080G	possibly damaging	Het
Tll1	A	C	8: 64,071,310	S447R	possibly damaging	Het
Tmem132e	G	A	11: 82,443,372	V662M	probably damaging	Het
Upf2	G	T	2: 6,034,098		probably benign	Het
Vmn1r58	T	C	7: 5,410,619	H204R	probably damaging	Het
Vmn2r25	A	T	6: 123,839,522	C367S	probably damaging	Het
Vps13b	A	T	15: 35,623,657	Q1240L	probably benign	Het
Xrcc1	C	T	7: 24,570,319		probably benign	Het
Yeats2	T	G	16: 20,186,425	V385G	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
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
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
X0019:Uspl1	UTSW	5	149214267	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCGTGAACCATCTCTAAGTGACC -3'
(R):5'- TGAATGCAGATCAACTTCCCGCTG -3'

Sequencing Primer
(F):5'- GATCTCCAAATGACTGTGAGTCC -3'
(R):5'- GGCCTTTCTCAGGGCTG -3'

Posted On

2013-07-11