Mutagenetix > Incidental Mutation

Incidental Mutation 'R9663:Usp19'

727694

Institutional Source

Beutler Lab

Gene Symbol

Usp19

Ensembl Gene

ENSMUSG00000006676

Gene Name

ubiquitin specific peptidase 19

Synonyms

8430421I07Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9663 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108367806-108379536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108371894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 390 (L390R)

Ref Sequence

ENSEMBL: ENSMUSP00000006854 (fasta)

Gene Model

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

AlphaFold

Q3UJD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000006854
AA Change: L390R

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

SMART Domains

Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: L390R

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 damaging
Transcript: ENSMUST00000085044
AA Change: L390R

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

SMART Domains

Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: L390R

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 benign
Transcript: ENSMUST00000166103

SMART Domains

Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676

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: L391R

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

SMART Domains

Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: L391R

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

probably benign
Transcript: ENSMUST00000193558

Predicted Effect

probably damaging
Transcript: ENSMUST00000193678
AA Change: L391R

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

SMART Domains

Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: L391R

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

probably benign
Transcript: ENSMUST00000194863

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh6	T	C	7: 30,013,371 (GRCm39)	S161P	probably damaging	Het
Alppl2	T	A	1: 87,015,753 (GRCm39)	H297L	probably benign	Het
Angptl2	A	G	2: 33,118,231 (GRCm39)	R2G	probably benign	Het
Arhgef15	T	A	11: 68,845,255 (GRCm39)	N199I	probably damaging	Het
Asns	A	T	6: 7,680,132 (GRCm39)	I328K	probably damaging	Het
Atad2	G	T	15: 57,971,540 (GRCm39)	T734K	probably benign	Het
Capn3	A	C	2: 120,316,859 (GRCm39)	M283L	probably benign	Het
Catsperd	T	A	17: 56,960,751 (GRCm39)	C384S	possibly damaging	Het
Cd101	A	G	3: 100,911,222 (GRCm39)	V816A	probably benign	Het
Cd5	T	G	19: 10,703,858 (GRCm39)	D68A	probably benign	Het
Ceacam18	G	A	7: 43,288,764 (GRCm39)	V172M	probably damaging	Het
Cfap100	G	A	6: 90,386,328 (GRCm39)	R276C		Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Creb3l2	A	G	6: 37,356,926 (GRCm39)	V47A	probably damaging	Het
Crebbp	T	A	16: 3,933,654 (GRCm39)	E1017D	probably damaging	Het
Cttn	T	C	7: 144,011,461 (GRCm39)	D116G	probably damaging	Het
Cyp2c65	A	G	19: 39,079,070 (GRCm39)		probably null	Het
Dcaf13	C	T	15: 38,982,178 (GRCm39)	T48I	possibly damaging	Het
Dsc2	T	A	18: 20,171,205 (GRCm39)	D598V	probably damaging	Het
Dtx3	G	A	10: 127,028,518 (GRCm39)	T237I	probably damaging	Het
E130308A19Rik	A	G	4: 59,719,764 (GRCm39)	E432G	possibly damaging	Het
Eps15	G	A	4: 109,179,270 (GRCm39)	V219I	probably benign	Het
Ext1	A	G	15: 53,208,456 (GRCm39)	S102P	probably damaging	Het
Fam151a	A	T	4: 106,604,894 (GRCm39)	I419L	possibly damaging	Het
Fam89a	C	T	8: 125,478,436 (GRCm39)	G38D	probably damaging	Het
Fdx2	G	T	9: 20,984,717 (GRCm39)	A29E	probably benign	Het
Hhla1	G	A	15: 65,813,630 (GRCm39)	T234I	probably damaging	Het
Hspb6	G	A	7: 30,253,714 (GRCm39)	V76M	probably damaging	Het
Ighmbp2	C	A	19: 3,315,325 (GRCm39)	K698N	probably benign	Het
Invs	A	G	4: 48,426,218 (GRCm39)	I1002V	probably damaging	Het
Itga8	A	C	2: 12,196,580 (GRCm39)	F612L	probably benign	Het
Kcnma1	G	T	14: 24,053,897 (GRCm39)	F99L	probably benign	Het
Klf11	A	G	12: 24,705,731 (GRCm39)	Y395C	probably damaging	Het
Kplce	A	T	3: 92,776,283 (GRCm39)	N133K	probably benign	Het
Lama4	G	A	10: 38,923,944 (GRCm39)	E451K	probably damaging	Het
Lrr1	A	G	12: 69,221,884 (GRCm39)	Y342C	probably damaging	Het
Lrrc18	A	T	14: 32,731,021 (GRCm39)	M187L	probably benign	Het
Luc7l3	A	G	11: 94,187,756 (GRCm39)	S311P	unknown	Het
Lypd3	T	A	7: 24,338,349 (GRCm39)	S133R	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mug1	T	A	6: 121,859,699 (GRCm39)	S1233T	probably benign	Het
Mug1	A	T	6: 121,857,463 (GRCm39)	E1062D	probably benign	Het
Myh7	T	C	14: 55,221,098 (GRCm39)	K942E	probably damaging	Het
Nedd9	T	C	13: 41,469,941 (GRCm39)	D404G	probably damaging	Het
Nisch	C	A	14: 30,895,625 (GRCm39)	A1022S	probably damaging	Het
Nkx3-1	A	G	14: 69,429,321 (GRCm39)	D113G	probably benign	Het
Or1ad6	T	C	11: 50,860,165 (GRCm39)	F107L	probably benign	Het
Or6c1b	A	T	10: 129,272,929 (GRCm39)	I83F	probably damaging	Het
Or6c215	A	G	10: 129,637,497 (GRCm39)	F299S	probably benign	Het
Otub1	C	T	19: 7,176,813 (GRCm39)	G181D	probably damaging	Het
Palb2	T	C	7: 121,726,304 (GRCm39)	H522R	probably benign	Het
Pfpl	A	T	19: 12,407,459 (GRCm39)	D570V	probably damaging	Het
Phyhd1	A	G	2: 30,171,070 (GRCm39)	N271S	probably damaging	Het
Ptprm	T	C	17: 67,498,291 (GRCm39)	Q50R	probably benign	Het
Rfx2	C	A	17: 57,087,895 (GRCm39)	V499L	possibly damaging	Het
Sema5a	C	T	15: 32,673,546 (GRCm39)	Q795*	probably null	Het
Sf3a2	A	G	10: 80,637,309 (GRCm39)	N49S	probably damaging	Het
Sft2d1	T	G	17: 8,545,812 (GRCm39)	S156A	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc25a33	T	A	4: 149,836,913 (GRCm39)	T144S	probably benign	Het
Slc7a13	A	T	4: 19,818,818 (GRCm39)	K6M	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Tfap2c	G	A	2: 172,399,213 (GRCm39)	D487N	probably damaging	Het
Thbs1	G	A	2: 117,949,897 (GRCm39)	R624Q	probably damaging	Het
Thsd4	A	G	9: 59,890,026 (GRCm39)	F857S	probably damaging	Het
Tnfrsf4	A	G	4: 156,100,884 (GRCm39)	I272V	probably benign	Het
Trak1	C	T	9: 121,220,924 (GRCm39)	R45C	probably benign	Het
Trpm2	A	G	10: 77,756,320 (GRCm39)	S1167P	probably benign	Het
Ttc14	A	T	3: 33,855,537 (GRCm39)	T161S	probably benign	Het
Ttll1	A	G	15: 83,380,579 (GRCm39)	V262A	possibly damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ufsp1	C	A	5: 137,293,545 (GRCm39)	P165Q	possibly damaging	Het
Vegfc	G	T	8: 54,634,338 (GRCm39)	C339F	probably damaging	Het
Vmn2r6	A	T	3: 64,463,549 (GRCm39)	N428K	possibly damaging	Het
Wdr11	T	G	7: 129,210,647 (GRCm39)	V517G	probably damaging	Het
Xkr4	T	A	1: 3,286,519 (GRCm39)	D557V	probably benign	Het
Zan	C	A	5: 137,379,119 (GRCm39)	C5327F	unknown	Het
Zfp770	A	T	2: 114,026,949 (GRCm39)	N373K	probably benign	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
R5249:Usp19	UTSW	9	108,369,807 (GRCm39)	start codon destroyed	probably null	0.85
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
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'- TACGTGAAGGAGATCCGCAG -3'
(R):5'- TATCGATTCGAGAGGCCGTG -3'

Sequencing Primer
(F):5'- ACTGATCTTCCAGACCAGGTGTG -3'
(R):5'- GTGAAACAGAACGTACACTGCTCTG -3'

Posted On

2022-10-06