Mutagenetix > Incidental Mutation

Incidental Mutation 'R6505:Usp19'

523756

Institutional Source

Beutler Lab

Gene Symbol

Usp19

Ensembl Gene

ENSMUSG00000006676

Gene Name

ubiquitin specific peptidase 19

Synonyms

8430421I07Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R6505 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108490602-108502337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108496883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 713 (L713Q)

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: L714Q

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

SMART Domains

Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: L714Q

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: L714Q

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

SMART Domains

Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: L714Q

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: L690Q

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

SMART Domains

Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676
AA Change: L690Q

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: L715Q

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

SMART Domains

Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: L715Q

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: L713Q

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

SMART Domains

Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: L713Q

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: L344Q

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

0.9719

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (84/84)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,001,940	I424L	probably benign	Het
2610028H24Rik	C	T	10: 76,449,281	A8V	probably benign	Het
Ago1	G	A	4: 126,463,835	P16S	probably benign	Het
Ak5	C	T	3: 152,481,669	E394K	probably benign	Het
Aldh7a1	T	C	18: 56,526,996	Y498C	probably damaging	Het
Alox12	T	A	11: 70,250,204	D335V	probably damaging	Het
Alx4	A	T	2: 93,668,559	Y212F	probably damaging	Het
Asb16	A	G	11: 102,276,477	E223G	probably damaging	Het
Atg9b	C	T	5: 24,390,577	V235M	probably damaging	Het
BB014433	A	G	8: 15,042,304	V183A	probably benign	Het
Brca1	T	A	11: 101,523,541	M1256L	probably benign	Het
Bst1	A	G	5: 43,820,590	I94V	probably benign	Het
C3ar1	A	G	6: 122,850,640	L206P	probably benign	Het
Cabs1	T	A	5: 87,980,663	M391K	possibly damaging	Het
Cars	C	T	7: 143,565,007	R599Q	probably damaging	Het
Ccdc190	T	A	1: 169,933,023	Y73*	probably null	Het
Cd177	A	C	7: 24,744,246	L809W	probably benign	Het
Cemip	C	A	7: 83,951,597	G939*	probably null	Het
Clca3b	T	A	3: 144,825,259	I777F	probably benign	Het
Cma2	T	C	14: 55,973,779	I176T	probably damaging	Het
Col12a1	T	A	9: 79,647,605	T2064S	probably damaging	Het
Csf1r	A	G	18: 61,129,733	N860S	probably damaging	Het
Dab1	T	A	4: 104,512,264	C3S	probably benign	Het
Dennd4b	A	G	3: 90,267,611	E50G	probably damaging	Het
Dis3l	A	T	9: 64,307,513	S925T	probably benign	Het
Disp1	T	C	1: 183,086,512	N1448S	probably benign	Het
Dpp10	T	C	1: 123,336,851	I747M	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Ephx4	A	T	5: 107,403,656	K36*	probably null	Het
Fam135a	C	T	1: 24,014,872	V1195I	probably damaging	Het
Fap	A	T	2: 62,546,603	Y234*	probably null	Het
Fem1c	A	T	18: 46,505,875	N353K	possibly damaging	Het
Furin	C	A	7: 80,393,617	R282L	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm5930	A	G	14: 44,331,371	*265Q	probably null	Het
Hcrtr1	T	A	4: 130,137,586	T15S	probably benign	Het
Ifnar1	C	T	16: 91,499,537	Q309*	probably null	Het
Il18r1	A	T	1: 40,489,707	I304L	probably benign	Het
Ino80	A	T	2: 119,451,441	Y185N	probably damaging	Het
Itgb2	G	A	10: 77,559,673	C536Y	probably damaging	Het
Ivns1abp	T	C	1: 151,360,993	M435T	probably benign	Het
Kcnh4	T	C	11: 100,757,085	N151D	probably benign	Het
Lama3	T	C	18: 12,495,348	M1499T	probably benign	Het
Lamb1	A	T	12: 31,323,462	T1397S	possibly damaging	Het
Leng1	G	A	7: 3,661,212	R239*	probably null	Het
Map2k4	A	T	11: 65,693,529	N309K	possibly damaging	Het
Mcm3	A	G	1: 20,803,544	F784S	probably damaging	Het
Mrgpra9	T	A	7: 47,235,136	N260I	probably benign	Het
Mrnip	C	A	11: 50,199,852	T281N	possibly damaging	Het
Myo9b	A	G	8: 71,355,857	T1715A	possibly damaging	Het
Nectin3	A	G	16: 46,448,821	I406T	possibly damaging	Het
Neto1	A	G	18: 86,498,574	T339A	possibly damaging	Het
Ntn1	T	C	11: 68,213,199	D541G	probably damaging	Het
Nuak2	C	A	1: 132,316,394	H55Q	probably damaging	Het
Nufip2	A	G	11: 77,691,613	T118A	probably benign	Het
Olfr1126	T	A	2: 87,457,927	V254E	probably damaging	Het
Olfr1155	A	T	2: 87,943,174	Y151*	probably null	Het
Olfr19	A	T	16: 16,673,920	D20E	probably benign	Het
Olfr213	C	T	6: 116,540,600	T49M	probably benign	Het
Olfr266	T	G	3: 106,822,322	N79T	possibly damaging	Het
Olfr483	T	C	7: 108,103,567	V86A	probably benign	Het
Olfr596	C	A	7: 103,309,793	A24D	probably benign	Het
Olfr609	T	A	7: 103,492,651	T76S	probably damaging	Het
Olfr847	T	C	9: 19,374,941	*313W	probably null	Het
Pcdhb5	T	A	18: 37,320,880	H104Q	probably benign	Het
Phf11a	T	C	14: 59,277,537	R232G	probably damaging	Het
Pik3r5	C	T	11: 68,492,789	T478I	probably benign	Het
Prkacb	T	A	3: 146,732,646	E380V	probably damaging	Het
Prl7c1	G	T	13: 27,773,793	D221E	probably damaging	Het
Prr11	T	A	11: 87,106,124	K5*	probably null	Het
Prrc2b	G	A	2: 32,222,320	G1932D	probably damaging	Het
Rexo1	A	T	10: 80,543,011	Y1064N	possibly damaging	Het
Rnf182	C	T	13: 43,668,671	Q233*	probably null	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sash1	C	G	10: 8,729,527	G1033A	probably benign	Het
Sncaip	C	A	18: 52,906,537	S189*	probably null	Het
Sorl1	T	C	9: 42,071,234	Y350C	probably damaging	Het
Speg	T	C	1: 75,406,684	V1141A	possibly damaging	Het
Speg	C	A	1: 75,429,523	D3091E	possibly damaging	Het
Sucnr1	A	T	3: 60,086,723	D224V	probably benign	Het
Tg	G	A	15: 66,759,558	A559T	probably damaging	Het
Tmem132d	A	G	5: 127,784,438	I873T	probably benign	Het
Tmem229a	C	T	6: 24,954,921	C278Y	probably damaging	Het
Togaram1	T	C	12: 64,966,590	I205T	possibly damaging	Het
Vsig10	A	G	5: 117,351,759	D530G	possibly damaging	Het
Zfp106	A	G	2: 120,534,502	S475P	probably damaging	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
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
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'- AGGTCCACCAATGTTGTGGG -3'
(R):5'- TCACCAGGAACTTTGGCAAG -3'

Sequencing Primer
(F):5'- CCACCAATGTTGTGGGTAAGG -3'
(R):5'- CTTTGGCAAGAAAGGTCAAGTC -3'

Posted On

2018-06-22