Mutagenetix > Incidental Mutation

Incidental Mutation 'R0281:Usp19'

37538

Institutional Source

Beutler Lab

Gene Symbol

Usp19

Ensembl Gene

ENSMUSG00000006676

Gene Name

ubiquitin specific peptidase 19

Synonyms

8430421I07Rik

MMRRC Submission

038503-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.288) question?

Stock #

R0281 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

108490602-108502337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108498509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 885 (F885V)

Ref Sequence

ENSEMBL: ENSMUSP00000135930 (fasta)

Gene Model

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

AlphaFold

Q3UJD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000006854
AA Change: F884V

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

SMART Domains

Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: F884V

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: F884V

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

SMART Domains

Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: F884V

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: F860V

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

SMART Domains

Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676
AA Change: F860V

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: F885V

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

SMART Domains

Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: F885V

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

probably benign
Transcript: ENSMUST00000193558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193571

Predicted Effect

probably damaging
Transcript: ENSMUST00000193678
AA Change: F883V

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

SMART Domains

Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: F883V

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

unknown
Transcript: ENSMUST00000194171
AA Change: F514V

Predicted Effect

unknown
Transcript: ENSMUST00000194863
AA Change: F133V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194499

Meta Mutation Damage Score

0.8284

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (104/106)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
2610507B11Rik	C	T	11: 78,271,924	L871F	possibly damaging	Het
4933430I17Rik	A	T	4: 62,546,067	R374*	probably null	Het
5930422O12Rik	A	T	8: 33,429,379	R76*	probably null	Het
A1cf	G	A	19: 31,945,814	A505T	probably benign	Het
Abcc5	T	A	16: 20,422,400	I12F	probably damaging	Het
Abcf2	T	C	5: 24,566,564	E555G	probably damaging	Het
Acan	A	T	7: 79,100,285	E1601D	probably damaging	Het
Adam2	T	A	14: 66,037,606	K559N	probably benign	Het
Akap11	A	C	14: 78,510,089	D1619E	possibly damaging	Het
Ankrd11	T	C	8: 122,895,568	D515G	probably benign	Het
Ankrd27	T	A	7: 35,619,371	N562K	probably damaging	Het
Atp10b	T	C	11: 43,153,304	I119T	probably benign	Het
Atr	T	C	9: 95,937,566	I2202T	probably benign	Het
BC067074	A	T	13: 113,369,143	I727F	probably damaging	Het
Brd4	T	A	17: 32,213,540		probably benign	Het
Catsperg2	C	T	7: 29,706,571	C634Y	possibly damaging	Het
Cep192	A	G	18: 67,828,482		probably benign	Het
Cfap65	T	A	1: 74,927,071	I366F	probably damaging	Het
Cnga4	G	T	7: 105,407,668	R326L	probably damaging	Het
Cntnap5b	T	A	1: 100,072,153	M212K	probably benign	Het
Col6a6	T	A	9: 105,784,116	M265L	probably benign	Het
Cyp26b1	A	T	6: 84,574,556	F417Y	probably damaging	Het
Dhx15	A	T	5: 52,150,746	M768K	probably benign	Het
Drc7	G	A	8: 95,071,253	R433H	possibly damaging	Het
Duox2	C	T	2: 122,292,304	V550M	probably benign	Het
Elmo2	A	G	2: 165,296,890	L456P	probably damaging	Het
Fbxo39	T	C	11: 72,317,530	I236T	probably benign	Het
Fezf2	A	G	14: 12,343,977	C305R	probably damaging	Het
Fndc3b	C	A	3: 27,457,006	C785F	probably benign	Het
Gm12253	T	C	11: 58,440,012		probably benign	Het
Gnat2	T	A	3: 108,095,562	Y95*	probably null	Het
Gopc	T	C	10: 52,350,678	K220E	probably damaging	Het
Hectd4	G	A	5: 121,254,251	D193N	possibly damaging	Het
Hexa	G	A	9: 59,554,226		probably null	Het
Hspa4l	T	C	3: 40,785,408		probably benign	Het
Hspa5	T	C	2: 34,774,320	S301P	probably damaging	Het
Ice1	A	T	13: 70,604,047	S1307T	possibly damaging	Het
Igtp	T	C	11: 58,206,054	L17P	probably damaging	Het
Itk	T	C	11: 46,353,916	Y225C	probably damaging	Het
Kifc3	A	G	8: 95,103,460	V560A	probably damaging	Het
Lama1	A	G	17: 67,817,569	N2875D	probably damaging	Het
Lasp1	C	A	11: 97,806,851	C32*	probably null	Het
Lcp2	T	A	11: 34,069,854		probably benign	Het
Lhx9	C	T	1: 138,832,904	G236D	probably benign	Het
Lrrc38	A	T	4: 143,350,409	I81F	probably damaging	Het
Ly6a	C	T	15: 74,995,387	V94M	probably benign	Het
Map3k13	A	G	16: 21,914,157	E503G	probably damaging	Het
Mertk	T	C	2: 128,782,621		probably benign	Het
Mkl2	T	A	16: 13,412,163	I915N	probably damaging	Het
Msantd2	G	A	9: 37,523,219	D252N	possibly damaging	Het
Mtmr12	T	A	15: 12,257,706	L290*	probably null	Het
Myo3a	T	C	2: 22,245,598	I92T	probably benign	Het
Naglu	T	A	11: 101,074,027	N313K	probably damaging	Het
Nceh1	T	C	3: 27,222,804	V92A	possibly damaging	Het
Ncf4	A	G	15: 78,250,883	T47A	probably damaging	Het
Nrp1	T	A	8: 128,460,683	F403L	probably damaging	Het
Nxph3	T	C	11: 95,511,256	T111A	possibly damaging	Het
Obscn	T	A	11: 59,038,615	E6061V	probably damaging	Het
Obsl1	C	A	1: 75,492,927	G1149W	probably damaging	Het
Olfr1162	C	T	2: 88,050,412	V71I	possibly damaging	Het
Olfr1370	T	A	13: 21,072,374	Y309F	probably benign	Het
Olfr1487	A	G	19: 13,619,485	T65A	probably benign	Het
Olfr267	A	T	4: 58,784,981	V247E	probably damaging	Het
Olfr292	A	G	7: 86,694,860	T135A	probably benign	Het
Olfr493	A	C	7: 108,346,914	D22E	probably benign	Het
Olfr814	T	A	10: 129,874,546	L70F	possibly damaging	Het
Pde9a	T	C	17: 31,455,106	V55A	probably damaging	Het
Pip4k2c	A	T	10: 127,205,821		probably null	Het
Plvap	T	C	8: 71,511,382	N112S	probably damaging	Het
Pop1	T	A	15: 34,529,858		probably null	Het
Ppip5k2	T	C	1: 97,716,553	H1113R	possibly damaging	Het
Ptprk	A	T	10: 28,573,392	I962F	probably damaging	Het
Rad51ap2	T	C	12: 11,457,042	S322P	possibly damaging	Het
Rasal1	A	G	5: 120,674,605	T565A	probably benign	Het
Rbm15	C	A	3: 107,331,155	R642S	probably damaging	Het
Rpsa	G	A	9: 120,131,003	E211K	possibly damaging	Het
Ryr3	A	G	2: 112,686,810	S3303P	probably damaging	Het
Scg2	T	A	1: 79,435,512	N458I	possibly damaging	Het
Setx	A	G	2: 29,179,643	T2487A	probably benign	Het
Slc4a5	G	A	6: 83,267,567		probably benign	Het
Slc8a2	T	A	7: 16,140,989	D387E	probably benign	Het
Smarcc2	A	G	10: 128,474,722	T407A	probably benign	Het
Snap25	A	G	2: 136,777,464	D179G	probably damaging	Het
Socs4	T	C	14: 47,289,868	S74P	probably benign	Het
Sp6	T	A	11: 97,021,925	Y155N	probably benign	Het
Srrt	C	T	5: 137,296,127		probably benign	Het
Steap1	C	T	5: 5,736,431	M335I	probably benign	Het
Stra6	A	T	9: 58,145,489	Y250F	probably benign	Het
Svil	T	C	18: 5,094,582	S1421P	probably damaging	Het
Tcea3	G	A	4: 136,271,366	C317Y	probably damaging	Het
Tmco6	T	C	18: 36,737,704	L117S	probably damaging	Het
Trp53bp1	T	C	2: 121,270,237	K89E	probably damaging	Het
Trp63	T	A	16: 25,764,302		probably benign	Het
Ube2d2a	A	G	18: 35,800,132	Y74C	probably damaging	Het
Utp18	T	A	11: 93,882,177		probably benign	Het
Vmn2r116	T	C	17: 23,401,413	I707T	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Zfp318	C	T	17: 46,412,614	P1848S	probably benign	Het
Zfp984	G	T	4: 147,755,265	N376K	probably benign	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
R0386:Usp19	UTSW	9	108499711	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'- ATACCTAGTCCCCAAGGGCATCAG -3'
(R):5'- TTCCCAACACTTCAGTGCAGTACC -3'

Sequencing Primer
(F):5'- GGCATCAGACAAGTCCCTG -3'
(R):5'- GGCGGTTGGAATACACTCAC -3'

Posted On

2013-05-23