Mutagenetix > Incidental Mutation

Incidental Mutation 'R5249:Usp19'

398832

Institutional Source

Beutler Lab

Gene Symbol

Usp19

Ensembl Gene

ENSMUSG00000006676

Gene Name

ubiquitin specific peptidase 19

Synonyms

8430421I07Rik

MMRRC Submission

042820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R5249 (G1)

Quality Score

101

Status

Validated

Chromosome

Chromosomal Location

108367806-108379536 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 108369807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000082119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006854] [ENSMUST00000065014] [ENSMUST00000085044] [ENSMUST00000166103] [ENSMUST00000178075] [ENSMUST00000193678]

AlphaFold

Q3UJD6

Predicted Effect

probably null
Transcript: ENSMUST00000006854
AA Change: M1K

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:CS	55	129	1.3e-6	PFAM
low complexity region	257	268	N/A	INTRINSIC
Pfam:CS	326	414	7.1e-19	PFAM
Pfam:USP19_linker	415	537	2.2e-61	PFAM
Pfam:UCH	538	1253	1.2e-77	PFAM
Pfam:UCH_1	539	874	8.6e-11	PFAM
Pfam:zf-MYND	833	875	9.9e-11	PFAM
Pfam:UCH_1	1021	1235	7.1e-10	PFAM
low complexity region	1278	1287	N/A	INTRINSIC
low complexity region	1301	1312	N/A	INTRINSIC
transmembrane domain	1333	1355	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000065014

SMART Domains

Protein: ENSMUSP00000069087
Gene: ENSMUSG00000052911

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
LamNT	44	284	1.9e-102	SMART
EGF_Lam	286	347	1.34e-6	SMART
EGF_Lam	350	410	6.1e-10	SMART
EGF_Lam	413	470	2.98e-13	SMART
EGF_Lam	473	522	7.93e-9	SMART
EGF_Lam	525	569	1.01e-10	SMART
EGF_Lam	784	829	3.42e-13	SMART
EGF_Lam	832	875	6.54e-10	SMART
EGF_Lam	878	925	1.34e-6	SMART
EGF_Lam	928	984	4.74e-7	SMART
EGF_Lam	987	1036	1.53e-10	SMART
EGF_Lam	1039	1093	6.29e-12	SMART
EGF_Lam	1096	1141	1.79e-7	SMART
EGF_Lam	1144	1188	6.64e-11	SMART
coiled coil region	1261	1299	N/A	INTRINSIC
low complexity region	1445	1458	N/A	INTRINSIC
coiled coil region	1473	1527	N/A	INTRINSIC
low complexity region	1609	1625	N/A	INTRINSIC
SCOP:d1eq1a_	1632	1786	5e-17	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000085044
AA Change: M1K

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:CS	55	129	4.7e-7	PFAM
low complexity region	257	268	N/A	INTRINSIC
Pfam:CS	326	414	2.5e-15	PFAM
low complexity region	449	460	N/A	INTRINSIC
low complexity region	524	530	N/A	INTRINSIC
Pfam:UCH	538	1253	7.4e-84	PFAM
Pfam:UCH_1	539	879	2.3e-13	PFAM
Pfam:zf-MYND	833	875	2.4e-10	PFAM
Pfam:UCH_1	1020	1235	2.9e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000166103
AA Change: M1K

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:CS	55	129	2.6e-7	PFAM
low complexity region	257	268	N/A	INTRINSIC
Pfam:CS	326	390	3.9e-9	PFAM
low complexity region	425	436	N/A	INTRINSIC
low complexity region	500	506	N/A	INTRINSIC
Pfam:UCH	514	1229	1.8e-84	PFAM
Pfam:UCH_1	515	855	5.5e-14	PFAM
Pfam:zf-MYND	809	851	1.7e-10	PFAM
Pfam:UCH_1	996	1211	6.9e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000178075
AA Change: M1K

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:CS	55	129	1e-6	PFAM
low complexity region	258	269	N/A	INTRINSIC
Pfam:CS	327	415	5.4e-15	PFAM
low complexity region	450	461	N/A	INTRINSIC
low complexity region	525	531	N/A	INTRINSIC
Pfam:UCH	539	1254	4.9e-84	PFAM
Pfam:UCH_1	540	880	1.4e-13	PFAM
Pfam:zf-MYND	834	876	5.2e-10	PFAM
Pfam:UCH_1	1021	1236	1.8e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193183

Predicted Effect

probably null
Transcript: ENSMUST00000193678
AA Change: M1K

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:CS	55	129	6.8e-7	PFAM
low complexity region	258	269	N/A	INTRINSIC
Pfam:CS	327	415	3.6e-15	PFAM
low complexity region	448	459	N/A	INTRINSIC
low complexity region	523	529	N/A	INTRINSIC
Pfam:UCH	537	1252	3.8e-84	PFAM
Pfam:UCH_1	538	878	1.1e-13	PFAM
Pfam:zf-MYND	832	874	5.1e-10	PFAM
Pfam:UCH_1	1019	1234	1.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195763

Predicted Effect

probably benign
Transcript: ENSMUST00000193558

Predicted Effect

probably benign
Transcript: ENSMUST00000194863

Predicted Effect

probably benign
Transcript: ENSMUST00000194171

Meta Mutation Damage Score

0.9669

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit decreased body weight, reduced male fertility, and increased resistance to skeletal muscle atrophy induced by both glucocorticoids and denervation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,284 (GRCm39)	H148R	probably damaging	Het
Acrbp	A	G	6: 125,037,885 (GRCm39)	D394G	probably damaging	Het
Adam18	T	C	8: 25,115,868 (GRCm39)	T609A	probably benign	Het
Adam25	T	A	8: 41,208,991 (GRCm39)	N752K	probably benign	Het
Ano6	A	C	15: 95,811,469 (GRCm39)	S176R	probably benign	Het
Ano7	T	C	1: 93,302,918 (GRCm39)	S19P	probably benign	Het
Ap1b1	A	G	11: 4,976,364 (GRCm39)	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,095,982 (GRCm39)	C46*	probably null	Het
Arhgef26	T	A	3: 62,247,981 (GRCm39)	L355Q	probably damaging	Het
B4galnt4	C	T	7: 140,644,983 (GRCm39)	T219I	probably damaging	Het
Bap1	C	T	14: 30,979,243 (GRCm39)		probably benign	Het
Catip	T	G	1: 74,401,954 (GRCm39)	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,805,282 (GRCm39)	R331C	unknown	Het
Cep85l	T	C	10: 53,195,690 (GRCm39)		probably null	Het
Cfap206	T	A	4: 34,714,502 (GRCm39)	Q398L	probably benign	Het
Clec18a	A	G	8: 111,800,368 (GRCm39)	C352R	probably damaging	Het
Clic6	A	T	16: 92,336,339 (GRCm39)	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,270,034 (GRCm39)		probably benign	Het
Cyb5r3	A	C	15: 83,042,836 (GRCm39)		probably benign	Het
Dnah6	C	T	6: 73,090,471 (GRCm39)	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,890,879 (GRCm39)	R296L	probably damaging	Het
Dtwd1	C	A	2: 125,996,694 (GRCm39)	Q60K	probably benign	Het
Esyt1	C	A	10: 128,352,443 (GRCm39)	V723L	probably benign	Het
Fbxo42	T	C	4: 140,926,335 (GRCm39)	L339P	probably damaging	Het
Furin	A	T	7: 80,043,169 (GRCm39)	N347K	probably damaging	Het
Fzd7	T	C	1: 59,522,522 (GRCm39)	M135T	probably damaging	Het
Garin1b	A	G	6: 29,323,896 (GRCm39)	D207G	probably damaging	Het
Hlf	A	G	11: 90,278,632 (GRCm39)	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,648 (GRCm39)	Q174*	probably null	Het
Kcnb1	T	A	2: 166,947,103 (GRCm39)	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692 (GRCm39)	Y391H	probably damaging	Het
Khdc4	T	A	3: 88,604,032 (GRCm39)	I283N	probably damaging	Het
Kif21b	C	T	1: 136,096,966 (GRCm39)	T1297M	probably damaging	Het
Krt8	T	G	15: 101,906,875 (GRCm39)	N317T	possibly damaging	Het
Lctl	G	T	9: 64,045,196 (GRCm39)	V372L	probably benign	Het
Lig1	C	T	7: 13,042,432 (GRCm39)	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,111,988 (GRCm39)	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,582,275 (GRCm39)	H10Y	probably benign	Het
Med1	A	T	11: 98,048,066 (GRCm39)	M910K	probably benign	Het
Mia2	A	T	12: 59,154,911 (GRCm39)	D209V	probably damaging	Het
Mpp4	C	T	1: 59,184,017 (GRCm39)		probably benign	Het
Mrgprb1	A	T	7: 48,097,225 (GRCm39)	V229E	possibly damaging	Het
Mtor	T	A	4: 148,548,189 (GRCm39)	C485S	probably damaging	Het
Mx1	T	C	16: 97,258,628 (GRCm39)	D23G	probably damaging	Het
Myrfl	T	C	10: 116,619,138 (GRCm39)	D740G	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nav2	G	A	7: 49,185,661 (GRCm39)	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,110,914 (GRCm39)	N262K	possibly damaging	Het
Opa1	A	T	16: 29,437,077 (GRCm39)	D699V	probably damaging	Het
Or10u4	C	T	10: 129,802,078 (GRCm39)	A164T	probably benign	Het
Or8b51	A	G	9: 38,569,374 (GRCm39)	C105R	possibly damaging	Het
Otud7a	A	G	7: 63,407,181 (GRCm39)	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,320,950 (GRCm39)	D53G	probably benign	Het
Pdcd5	A	G	7: 35,346,421 (GRCm39)		probably benign	Het
Phf21a	C	T	2: 92,058,822 (GRCm39)	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,777,406 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,535,496 (GRCm39)	Q423R	probably damaging	Het
Pum1	A	T	4: 130,490,125 (GRCm39)	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,241,841 (GRCm39)	D415G	probably benign	Het
Rapgef6	A	G	11: 54,413,943 (GRCm39)	E23G	probably benign	Het
Rpia	G	T	6: 70,760,563 (GRCm39)	C121*	probably null	Het
Sanbr	A	G	11: 23,525,483 (GRCm39)	*719Q	probably null	Het
Serpinb13	T	A	1: 106,926,427 (GRCm39)	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,065,456 (GRCm39)	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,055,858 (GRCm39)		probably benign	Het
Slamf6	A	C	1: 171,764,249 (GRCm39)	N214T	probably damaging	Het
Slc7a2	T	C	8: 41,361,130 (GRCm39)	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,312,971 (GRCm39)		probably null	Het
Spink7	A	T	18: 62,725,507 (GRCm39)	F79I	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Sspo	A	T	6: 48,470,244 (GRCm39)	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,653,793 (GRCm39)	K700R	probably benign	Het
Tcf25	G	T	8: 124,115,372 (GRCm39)	R203L	probably damaging	Het
Tcp11	T	C	17: 28,290,757 (GRCm39)	I201V	possibly damaging	Het
Tex2	T	C	11: 106,437,615 (GRCm39)	D685G	unknown	Het
Themis	G	T	10: 28,637,195 (GRCm39)	E100*	probably null	Het
Tmem52b	G	A	6: 129,491,221 (GRCm39)		probably null	Het
Tnr	C	T	1: 159,512,226 (GRCm39)		probably benign	Het
Tox3	T	C	8: 90,975,444 (GRCm39)	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828 (GRCm39)	E269V	probably benign	Het
Tulp1	C	T	17: 28,581,651 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ube2j2	A	C	4: 156,033,515 (GRCm39)	K30Q	possibly damaging	Het
Vmn2r52	C	A	7: 9,910,197 (GRCm39)	R6L	probably benign	Het
Zbed4	G	A	15: 88,665,290 (GRCm39)	V453M	probably benign	Het
Zfp319	T	C	8: 96,055,099 (GRCm39)	E368G	probably benign	Het
Zfp366	A	C	13: 99,366,117 (GRCm39)	E426A	probably damaging	Het
Zfp687	A	T	3: 94,916,777 (GRCm39)	I783N	probably damaging	Het

Other mutations in Usp19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Usp19	APN	9	108,376,160 (GRCm39)	missense	possibly damaging	0.79
IGL02345:Usp19	APN	9	108,371,057 (GRCm39)	missense	probably benign
IGL03026:Usp19	APN	9	108,370,344 (GRCm39)	missense	probably damaging	1.00
IGL03057:Usp19	APN	9	108,376,329 (GRCm39)	missense	probably benign	0.01
IGL03073:Usp19	APN	9	108,373,002 (GRCm39)	unclassified	probably benign
IGL03333:Usp19	APN	9	108,371,348 (GRCm39)	missense	probably benign	0.05
PIT4504001:Usp19	UTSW	9	108,370,169 (GRCm39)	missense	probably benign	0.00
PIT4576001:Usp19	UTSW	9	108,369,931 (GRCm39)	critical splice donor site	probably null
R0053:Usp19	UTSW	9	108,374,369 (GRCm39)	splice site	probably null
R0053:Usp19	UTSW	9	108,374,369 (GRCm39)	splice site	probably null
R0138:Usp19	UTSW	9	108,378,514 (GRCm39)	missense	possibly damaging	0.86
R0281:Usp19	UTSW	9	108,375,708 (GRCm39)	missense	probably damaging	1.00
R0386:Usp19	UTSW	9	108,376,910 (GRCm39)	missense	probably damaging	1.00
R0454:Usp19	UTSW	9	108,371,439 (GRCm39)	critical splice donor site	probably null
R0506:Usp19	UTSW	9	108,371,686 (GRCm39)	missense	probably damaging	1.00
R0542:Usp19	UTSW	9	108,371,584 (GRCm39)	splice site	probably null
R0800:Usp19	UTSW	9	108,372,353 (GRCm39)	missense	probably damaging	0.97
R0829:Usp19	UTSW	9	108,371,000 (GRCm39)	missense	probably benign
R1594:Usp19	UTSW	9	108,375,721 (GRCm39)	missense	probably damaging	1.00
R1917:Usp19	UTSW	9	108,376,524 (GRCm39)	nonsense	probably null
R3744:Usp19	UTSW	9	108,377,380 (GRCm39)	missense	probably damaging	1.00
R3964:Usp19	UTSW	9	108,375,228 (GRCm39)	missense	probably damaging	1.00
R4275:Usp19	UTSW	9	108,375,893 (GRCm39)	missense	probably damaging	1.00
R4789:Usp19	UTSW	9	108,370,433 (GRCm39)	missense	possibly damaging	0.75
R5247:Usp19	UTSW	9	108,373,264 (GRCm39)	splice site	probably null
R5400:Usp19	UTSW	9	108,377,392 (GRCm39)	missense	probably damaging	1.00
R5445:Usp19	UTSW	9	108,375,119 (GRCm39)	missense	possibly damaging	0.61
R5578:Usp19	UTSW	9	108,370,639 (GRCm39)	missense	probably benign
R5934:Usp19	UTSW	9	108,369,766 (GRCm39)	unclassified	probably benign
R6003:Usp19	UTSW	9	108,373,579 (GRCm39)	missense	probably damaging	1.00
R6217:Usp19	UTSW	9	108,377,343 (GRCm39)	missense	probably damaging	1.00
R6230:Usp19	UTSW	9	108,379,140 (GRCm39)	missense	probably damaging	0.99
R6505:Usp19	UTSW	9	108,374,082 (GRCm39)	missense	probably damaging	1.00
R6585:Usp19	UTSW	9	108,376,926 (GRCm39)	missense	probably damaging	0.97
R6865:Usp19	UTSW	9	108,376,018 (GRCm39)	nonsense	probably null
R6953:Usp19	UTSW	9	108,376,130 (GRCm39)	missense	possibly damaging	0.90
R7037:Usp19	UTSW	9	108,374,157 (GRCm39)	missense	possibly damaging	0.52
R7046:Usp19	UTSW	9	108,374,334 (GRCm39)	missense	possibly damaging	0.48
R7235:Usp19	UTSW	9	108,372,123 (GRCm39)	nonsense	probably null
R7699:Usp19	UTSW	9	108,373,371 (GRCm39)	nonsense	probably null
R7705:Usp19	UTSW	9	108,379,112 (GRCm39)	missense	possibly damaging	0.89
R8175:Usp19	UTSW	9	108,377,377 (GRCm39)	missense	probably damaging	1.00
R8551:Usp19	UTSW	9	108,376,496 (GRCm39)	missense	possibly damaging	0.50
R8725:Usp19	UTSW	9	108,370,934 (GRCm39)	missense	probably damaging	1.00
R9142:Usp19	UTSW	9	108,372,284 (GRCm39)	missense	possibly damaging	0.79
R9143:Usp19	UTSW	9	108,375,398 (GRCm39)	missense	probably damaging	1.00
R9421:Usp19	UTSW	9	108,376,792 (GRCm39)	missense	probably damaging	1.00
R9508:Usp19	UTSW	9	108,371,608 (GRCm39)	missense	probably damaging	1.00
R9663:Usp19	UTSW	9	108,371,894 (GRCm39)	missense	probably damaging	1.00
R9731:Usp19	UTSW	9	108,376,885 (GRCm39)	missense	probably damaging	1.00
RF041:Usp19	UTSW	9	108,371,187 (GRCm39)	critical splice acceptor site	unknown

Predicted Primers

PCR Primer
(F):5'- CATTAGGGTTCAGAGAGGCCTG -3'
(R):5'- TCCAGTGATAAGGGAAGCCG -3'

Sequencing Primer
(F):5'- AGCAGATCACTTGGCCTTG -3'
(R):5'- GTAGGCACTCTGGAAAAGCCC -3'

Posted On

2016-07-06