Mutagenetix > Incidental Mutation

Incidental Mutation 'R0386:Usp19'

31297

Institutional Source

Beutler Lab

Gene Symbol

Usp19

Ensembl Gene

ENSMUSG00000006676

Gene Name

ubiquitin specific peptidase 19

Synonyms

8430421I07Rik

MMRRC Submission

038592-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R0386 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108490602-108502337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108499711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1160 (D1160V)

Ref Sequence

ENSEMBL: ENSMUSP00000141738 (fasta)

Gene Model

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

AlphaFold

Q3UJD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000006854
AA Change: D1161V

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

SMART Domains

Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: D1161V

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 damaging
Transcript: ENSMUST00000085044
AA Change: D1161V

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

SMART Domains

Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: D1161V

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 damaging
Transcript: ENSMUST00000166103
AA Change: D1137V

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

SMART Domains

Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676
AA Change: D1137V

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 damaging
Transcript: ENSMUST00000178075
AA Change: D1162V

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

SMART Domains

Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: D1162V

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

noncoding transcript
Transcript: ENSMUST00000193412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193571

Predicted Effect

probably damaging
Transcript: ENSMUST00000193678
AA Change: D1160V

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

SMART Domains

Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: D1160V

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: ENSMUST00000193975

Predicted Effect

unknown
Transcript: ENSMUST00000194171
AA Change: D791V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194499

Predicted Effect

probably benign
Transcript: ENSMUST00000194863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195763

Meta Mutation Damage Score

0.6040

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,896,461	V194A	probably damaging	Het
Adamts13	G	A	2: 26,986,679		probably null	Het
Ahnak	T	C	19: 9,011,144	M3264T	possibly damaging	Het
Birc6	T	A	17: 74,599,340	C1409S	probably damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Dnah2	A	G	11: 69,447,861	V3161A	probably damaging	Het
Dnah5	A	T	15: 28,383,581	Y2983F	probably damaging	Het
Dnah6	G	A	6: 73,083,124	L2774F	probably damaging	Het
Dst	A	T	1: 34,217,836	T4398S	probably damaging	Het
Efcab5	G	A	11: 77,140,923	R42W	probably damaging	Het
Efcab5	A	T	11: 77,172,378	M96K	probably benign	Het
Elavl4	A	G	4: 110,206,705		probably benign	Het
Flt4	G	A	11: 49,644,386	A1214T	probably benign	Het
Fn1	G	T	1: 71,595,786	T2127N	probably damaging	Het
Foxj1	A	T	11: 116,331,803	S391R	possibly damaging	Het
Gabrb1	A	T	5: 72,108,807	Y269F	probably damaging	Het
Ghitm	A	G	14: 37,125,911	S259P	possibly damaging	Het
Gm16332	A	G	1: 139,924,190		noncoding transcript	Het
Gm16380	T	A	9: 53,884,443		noncoding transcript	Het
Gm9869	A	T	9: 60,838,062		probably benign	Het
Gm9936	G	A	5: 114,857,131	Q142*	probably null	Het
Hmbs	T	C	9: 44,337,008	Y260C	probably benign	Het
Hoxc5	T	A	15: 103,015,352	C193*	probably null	Het
Idh2	C	T	7: 80,098,257	A232T	probably damaging	Het
Lce1j	T	C	3: 92,789,388	K28E	unknown	Het
Lpgat1	C	T	1: 191,719,348		probably benign	Het
Lyst	T	C	13: 13,708,214		probably benign	Het
Megf11	A	G	9: 64,640,078	N235D	probably damaging	Het
Mst1r	T	A	9: 107,916,804		probably null	Het
Nr2c2ap	A	G	8: 70,131,587	D9G	probably benign	Het
Obscn	T	C	11: 59,136,339	T13A	probably damaging	Het
Ofcc1	A	C	13: 40,214,474	L188*	probably null	Het
Olfr1028	A	G	2: 85,951,873	E270G	probably damaging	Het
Olfr432	A	T	1: 174,050,399	T9S	probably benign	Het
Oma1	A	T	4: 103,325,201		probably benign	Het
Pcm1	T	C	8: 41,316,023	F1642S	probably damaging	Het
Pglyrp2	A	G	17: 32,420,862	M1T	probably null	Het
Pnpla5	G	T	15: 84,120,719	L144M	probably damaging	Het
Prdm10	C	A	9: 31,316,300	T67K	probably damaging	Het
Ralgapa1	A	T	12: 55,708,067	H1193Q	probably benign	Het
Sall1	A	G	8: 89,032,604	S291P	probably damaging	Het
Sdk2	T	C	11: 113,893,464	T150A	probably damaging	Het
Sel1l2	T	A	2: 140,275,441	Y170F	probably benign	Het
Sema4a	C	T	3: 88,436,800	V715I	possibly damaging	Het
Smgc	G	A	15: 91,854,638	A500T	probably benign	Het
Spef2	A	G	15: 9,584,062	V1639A	probably damaging	Het
Srrm4	A	G	5: 116,482,378		probably benign	Het
Tbc1d23	G	A	16: 57,189,273	H418Y	probably damaging	Het
Tbk1	A	G	10: 121,584,254	L10P	probably damaging	Het
Thumpd3	G	A	6: 113,065,660		probably null	Het
Trp53bp1	G	T	2: 121,204,943	T1609K	probably damaging	Het
Tut1	A	G	19: 8,955,555	N84S	probably benign	Het
Urb1	C	T	16: 90,796,399	G282R	probably damaging	Het
Usp9y	A	G	Y: 1,316,933	V1872A	probably damaging	Het
Zfp276	C	A	8: 123,259,503	Y386*	probably null	Het

Other mutations in Usp19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Usp19	APN	9	108498961	missense	possibly damaging	0.79
IGL02345:Usp19	APN	9	108493858	missense	probably benign
IGL03026:Usp19	APN	9	108493145	missense	probably damaging	1.00
IGL03057:Usp19	APN	9	108499130	missense	probably benign	0.01
IGL03073:Usp19	APN	9	108495803	unclassified	probably benign
IGL03333:Usp19	APN	9	108494149	missense	probably benign	0.05
PIT4504001:Usp19	UTSW	9	108492970	missense	probably benign	0.00
PIT4576001:Usp19	UTSW	9	108492732	critical splice donor site	probably null
R0053:Usp19	UTSW	9	108497170	splice site	probably null
R0053:Usp19	UTSW	9	108497170	splice site	probably null
R0138:Usp19	UTSW	9	108501315	missense	possibly damaging	0.86
R0281:Usp19	UTSW	9	108498509	missense	probably damaging	1.00
R0454:Usp19	UTSW	9	108494240	critical splice donor site	probably null
R0506:Usp19	UTSW	9	108494487	missense	probably damaging	1.00
R0542:Usp19	UTSW	9	108494385	splice site	probably null
R0800:Usp19	UTSW	9	108495154	missense	probably damaging	0.97
R0829:Usp19	UTSW	9	108493801	missense	probably benign
R1594:Usp19	UTSW	9	108498522	missense	probably damaging	1.00
R1917:Usp19	UTSW	9	108499325	nonsense	probably null
R3744:Usp19	UTSW	9	108500181	missense	probably damaging	1.00
R3964:Usp19	UTSW	9	108498029	missense	probably damaging	1.00
R4275:Usp19	UTSW	9	108498694	missense	probably damaging	1.00
R4789:Usp19	UTSW	9	108493234	missense	possibly damaging	0.75
R5247:Usp19	UTSW	9	108496065	splice site	probably null
R5249:Usp19	UTSW	9	108492608	start codon destroyed	probably null	0.85
R5400:Usp19	UTSW	9	108500193	missense	probably damaging	1.00
R5445:Usp19	UTSW	9	108497920	missense	possibly damaging	0.61
R5578:Usp19	UTSW	9	108493440	missense	probably benign
R5934:Usp19	UTSW	9	108492567	unclassified	probably benign
R6003:Usp19	UTSW	9	108496380	missense	probably damaging	1.00
R6217:Usp19	UTSW	9	108500144	missense	probably damaging	1.00
R6230:Usp19	UTSW	9	108501941	missense	probably damaging	0.99
R6505:Usp19	UTSW	9	108496883	missense	probably damaging	1.00
R6585:Usp19	UTSW	9	108499727	missense	probably damaging	0.97
R6865:Usp19	UTSW	9	108498819	nonsense	probably null
R6953:Usp19	UTSW	9	108498931	missense	possibly damaging	0.90
R7037:Usp19	UTSW	9	108496958	missense	possibly damaging	0.52
R7046:Usp19	UTSW	9	108497135	missense	possibly damaging	0.48
R7235:Usp19	UTSW	9	108494924	nonsense	probably null
R7699:Usp19	UTSW	9	108496172	nonsense	probably null
R7705:Usp19	UTSW	9	108501913	missense	possibly damaging	0.89
R8175:Usp19	UTSW	9	108500178	missense	probably damaging	1.00
R8551:Usp19	UTSW	9	108499297	missense	possibly damaging	0.50
R8725:Usp19	UTSW	9	108493735	missense	probably damaging	1.00
R9142:Usp19	UTSW	9	108495085	missense	possibly damaging	0.79
R9143:Usp19	UTSW	9	108498199	missense	probably damaging	1.00
R9421:Usp19	UTSW	9	108499593	missense	probably damaging	1.00
R9508:Usp19	UTSW	9	108494409	missense	probably damaging	1.00
R9663:Usp19	UTSW	9	108494695	missense	probably damaging	1.00
R9731:Usp19	UTSW	9	108499686	missense	probably damaging	1.00
RF041:Usp19	UTSW	9	108493988	critical splice acceptor site	unknown

Predicted Primers

PCR Primer
(F):5'- GGAGGGAAACTTGCTGCTTCTGAC -3'
(R):5'- AAGAGTATGAACACGGCCTGGACC -3'

Sequencing Primer
(F):5'- AACTTGCTGCTTCTGACTCCTC -3'
(R):5'- CGTAGTGGTTGATGACAGCATAC -3'

Posted On

2013-04-24