Mutagenetix > Incidental Mutation

Incidental Mutation 'R6997:Usp37'

544259

Institutional Source

Beutler Lab

Gene Symbol

Usp37

Ensembl Gene

ENSMUSG00000033364

Gene Name

ubiquitin specific peptidase 37

Synonyms

C330008N13Rik, 4932415L06Rik

MMRRC Submission

045103-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74474670-74583443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74493118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 723 (V723A)

Ref Sequence

ENSEMBL: ENSMUSP00000140670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044260] [ENSMUST00000189257]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044260
AA Change: V701A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000035445
Gene: ENSMUSG00000033364
AA Change: V701A

Domain	Start	End	E-Value	Type
Pfam:UCH_N	1	105	5.1e-47	PFAM
low complexity region	182	200	N/A	INTRINSIC
Pfam:UCH_1	341	645	3.4e-16	PFAM
UIM	704	723	1.33e1	SMART
UIM	806	825	1.04e-1	SMART
UIM	828	847	2.11e-2	SMART
low complexity region	893	909	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189257
AA Change: V723A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000140670
Gene: ENSMUSG00000033364
AA Change: V723A

Domain	Start	End	E-Value	Type
PDB:3U12\|B	4	125	2e-71	PDB
low complexity region	182	200	N/A	INTRINSIC
Pfam:UCH_1	341	608	4.3e-19	PFAM
low complexity region	628	646	N/A	INTRINSIC
UIM	704	723	1.33e1	SMART
UIM	806	825	1.04e-1	SMART
UIM	828	847	2.11e-2	SMART
low complexity region	893	909	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (58/60)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complete embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,171,539 (GRCm39)	Y764C	probably benign	Het
Atxn1	C	T	13: 45,721,095 (GRCm39)	V267M	probably benign	Het
Cadps	T	A	14: 12,505,793 (GRCm38)	H759L	possibly damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Caprin2	A	G	6: 148,779,474 (GRCm39)	L111P	probably damaging	Het
Ccl8	A	T	11: 82,006,865 (GRCm39)	D26V	possibly damaging	Het
Cdh19	T	C	1: 110,882,596 (GRCm39)		probably benign	Het
Cnga3	C	A	1: 37,283,965 (GRCm39)	H89Q	probably benign	Het
Cnga4	A	T	7: 105,056,190 (GRCm39)	Q264L	probably damaging	Het
Coil	A	G	11: 88,872,673 (GRCm39)	T345A	probably benign	Het
Cyp11b2	A	G	15: 74,723,281 (GRCm39)	L461P	probably damaging	Het
Dock2	T	C	11: 34,414,922 (GRCm39)	E151G	probably damaging	Het
Dsc1	C	T	18: 20,219,701 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,168,743 (GRCm39)	C357S	probably null	Het
Ebf3	A	C	7: 136,826,994 (GRCm39)	I306R	probably damaging	Het
Eprs1	A	G	1: 185,128,360 (GRCm39)	H580R	possibly damaging	Het
Ermap	A	T	4: 119,035,810 (GRCm39)	F393I	probably damaging	Het
Flii	T	C	11: 60,613,151 (GRCm39)	T217A	probably benign	Het
Fras1	C	T	5: 96,762,732 (GRCm39)	Q745*	probably null	Het
Gja8	A	G	3: 96,826,657 (GRCm39)	V335A	probably benign	Het
Gm21560	A	T	14: 6,218,333 (GRCm38)	N48K	probably damaging	Het
Gpr158	C	T	2: 21,653,802 (GRCm39)	T457I	possibly damaging	Het
Kcnv1	A	T	15: 44,977,997 (GRCm39)	S14T	unknown	Het
Lamb2	T	C	9: 108,358,496 (GRCm39)	Y178H	probably damaging	Het
Lamc2	G	A	1: 153,012,508 (GRCm39)	T722M	probably benign	Het
Map1b	T	C	13: 99,567,142 (GRCm39)	T1860A	unknown	Het
Map2k7	T	C	8: 4,294,035 (GRCm39)	Y194H	possibly damaging	Het
Map4	T	A	9: 109,881,982 (GRCm39)	M282K	probably benign	Het
Mmp10	A	G	9: 7,503,531 (GRCm39)	I134V	probably benign	Het
Mrtfa	G	T	15: 80,902,649 (GRCm39)	S220*	probably null	Het
Msh5	A	T	17: 35,248,978 (GRCm39)	L685Q	probably damaging	Het
Myh1	T	A	11: 67,111,463 (GRCm39)	I1634N	possibly damaging	Het
Myh13	C	T	11: 67,217,980 (GRCm39)	R18*	probably null	Het
Myo3b	A	T	2: 69,957,329 (GRCm39)	I185L	probably damaging	Het
Ninl	G	T	2: 150,808,145 (GRCm39)	H294Q	probably benign	Het
Or4a79	G	A	2: 89,552,269 (GRCm39)	A62V	possibly damaging	Het
Or51b17	A	T	7: 103,542,238 (GRCm39)	S235T	probably benign	Het
Or8b44	T	C	9: 38,410,607 (GRCm39)	I214T	possibly damaging	Het
Orm3	T	A	4: 63,275,180 (GRCm39)	L97Q	probably damaging	Het
Osbpl1a	T	C	18: 12,889,281 (GRCm39)	N432S	probably benign	Het
Pikfyve	T	A	1: 65,285,822 (GRCm39)	D1020E	probably damaging	Het
Pxk	T	A	14: 8,122,371 (GRCm38)	D60E	probably benign	Het
Rack1	T	A	11: 48,694,752 (GRCm39)	V198E	probably damaging	Het
Ripk1	C	T	13: 34,201,100 (GRCm39)	A271V	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr2	G	T	13: 11,669,266 (GRCm39)	H3513N	possibly damaging	Het
Scn7a	A	T	2: 66,534,147 (GRCm39)	D509E	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sfxn5	A	G	6: 85,233,414 (GRCm39)	V181A	probably benign	Het
Slc5a4b	C	T	10: 75,925,812 (GRCm39)	A198T	probably damaging	Het
Sp2	C	T	11: 96,848,552 (GRCm39)	R357H	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tnfrsf11b	G	A	15: 54,115,770 (GRCm39)	L276F	probably damaging	Het
Usp45	G	T	4: 21,781,844 (GRCm39)	R36I	probably damaging	Het
Vcan	T	C	13: 89,838,737 (GRCm39)	D2269G	probably damaging	Het
Vmn2r18	T	A	5: 151,485,338 (GRCm39)	M719L	possibly damaging	Het
Vmn2r52	C	T	7: 9,902,998 (GRCm39)	G477R	probably benign	Het
Vmn2r60	C	A	7: 41,791,716 (GRCm39)	N546K	probably benign	Het
Wnt8b	G	A	19: 44,500,280 (GRCm39)	C289Y	probably damaging	Het
Zdbf2	T	G	1: 63,329,925 (GRCm39)	M10R	probably benign	Het
Zfp945	T	A	17: 23,071,543 (GRCm39)	K140*	probably null	Het

Other mutations in Usp37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Usp37	APN	1	74,529,313 (GRCm39)	missense	probably benign	0.05
IGL00961:Usp37	APN	1	74,529,314 (GRCm39)	missense	probably benign
IGL01089:Usp37	APN	1	74,532,205 (GRCm39)	nonsense	probably null
IGL01348:Usp37	APN	1	74,500,861 (GRCm39)	missense	probably damaging	0.98
IGL01609:Usp37	APN	1	74,514,199 (GRCm39)	missense	probably benign	0.02
PIT4544001:Usp37	UTSW	1	74,509,738 (GRCm39)	missense	possibly damaging	0.65
R0331:Usp37	UTSW	1	74,493,223 (GRCm39)	nonsense	probably null
R0332:Usp37	UTSW	1	74,534,869 (GRCm39)	missense	possibly damaging	0.47
R0418:Usp37	UTSW	1	74,529,266 (GRCm39)	missense	probably benign	0.01
R0456:Usp37	UTSW	1	74,507,507 (GRCm39)	missense	probably damaging	1.00
R1605:Usp37	UTSW	1	74,532,163 (GRCm39)	missense	possibly damaging	0.59
R1756:Usp37	UTSW	1	74,518,814 (GRCm39)	missense	probably benign	0.20
R1971:Usp37	UTSW	1	74,479,127 (GRCm39)	nonsense	probably null
R2061:Usp37	UTSW	1	74,507,431 (GRCm39)	missense	probably damaging	1.00
R2130:Usp37	UTSW	1	74,500,815 (GRCm39)	missense	probably damaging	1.00
R2215:Usp37	UTSW	1	74,483,685 (GRCm39)	missense	probably damaging	1.00
R2867:Usp37	UTSW	1	74,489,691 (GRCm39)	missense	probably damaging	1.00
R2867:Usp37	UTSW	1	74,489,691 (GRCm39)	missense	probably damaging	1.00
R3716:Usp37	UTSW	1	74,532,145 (GRCm39)	missense	possibly damaging	0.93
R5077:Usp37	UTSW	1	74,480,720 (GRCm39)	missense	probably damaging	0.99
R5635:Usp37	UTSW	1	74,534,970 (GRCm39)	start gained	probably benign
R5826:Usp37	UTSW	1	74,509,785 (GRCm39)	missense	probably damaging	0.99
R5933:Usp37	UTSW	1	74,525,141 (GRCm39)	missense	probably damaging	0.98
R6048:Usp37	UTSW	1	74,517,295 (GRCm39)	splice site	probably null
R6169:Usp37	UTSW	1	74,534,910 (GRCm39)	missense	probably damaging	0.99
R6193:Usp37	UTSW	1	74,532,087 (GRCm39)	missense	probably damaging	1.00
R6235:Usp37	UTSW	1	74,514,292 (GRCm39)	nonsense	probably null
R6361:Usp37	UTSW	1	74,493,052 (GRCm39)	missense	probably benign	0.06
R6572:Usp37	UTSW	1	74,534,941 (GRCm39)	missense	possibly damaging	0.95
R6759:Usp37	UTSW	1	74,534,908 (GRCm39)	nonsense	probably null
R7471:Usp37	UTSW	1	74,534,787 (GRCm39)	critical splice donor site	probably null
R7632:Usp37	UTSW	1	74,507,533 (GRCm39)	missense	probably benign	0.04
R7691:Usp37	UTSW	1	74,525,919 (GRCm39)	frame shift	probably null
R8954:Usp37	UTSW	1	74,514,143 (GRCm39)	critical splice donor site	probably null
R9280:Usp37	UTSW	1	74,489,699 (GRCm39)	missense	probably damaging	0.98
R9484:Usp37	UTSW	1	74,499,081 (GRCm39)	missense	probably damaging	1.00
RF017:Usp37	UTSW	1	74,509,849 (GRCm39)	missense	probably damaging	1.00
X0058:Usp37	UTSW	1	74,493,082 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATGTCCAAATGTGAGGGC -3'
(R):5'- GACATTCATATTGGTAGACATTGGG -3'

Sequencing Primer
(F):5'- GCTGCATGTCAGTAAAGGCTC -3'
(R):5'- GGTAGACATTGGGTATATTAATGGAC -3'

Posted On

2019-05-13