Mutagenetix > Incidental Mutation

Incidental Mutation 'R7691:Usp37'

593366

Institutional Source

Beutler Lab

Gene Symbol

Usp37

Ensembl Gene

ENSMUSG00000033364

Gene Name

ubiquitin specific peptidase 37

Synonyms

C330008N13Rik, 4932415L06Rik

MMRRC Submission

045755-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7691 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

74474670-74583443 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TC to T at 74525919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140670 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000044260

SMART Domains

Protein: ENSMUSP00000035445
Gene: ENSMUSG00000033364

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 null
Transcript: ENSMUST00000189257

SMART Domains

Protein: ENSMUSP00000140670
Gene: ENSMUSG00000033364

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,773,219 (GRCm39)	C1763S	probably damaging	Het
Adcy3	T	C	12: 4,256,540 (GRCm39)	V782A	probably benign	Het
Arhgef17	G	A	7: 100,578,849 (GRCm39)	R700C	probably damaging	Het
Atxn2l	T	C	7: 126,091,782 (GRCm39)		probably null	Het
Bach2	A	G	4: 32,580,271 (GRCm39)	E832G	probably damaging	Het
Brpf3	G	C	17: 29,025,805 (GRCm39)	A293P	probably damaging	Het
Cacfd1	T	C	2: 26,900,106 (GRCm39)	L36P	probably damaging	Het
Camsap2	T	C	1: 136,220,742 (GRCm39)	E268G	probably damaging	Het
Ccnjl	A	T	11: 43,474,028 (GRCm39)	Q201L	probably benign	Het
Cdan1	A	G	2: 120,560,048 (GRCm39)	V372A	probably damaging	Het
Cenpf	C	A	1: 189,390,404 (GRCm39)	E1143*	probably null	Het
Colgalt1	A	T	8: 72,073,398 (GRCm39)	M340L	probably benign	Het
Crybg3	A	G	16: 59,376,497 (GRCm39)	Y1586H	not run	Het
Csmd3	A	G	15: 47,604,569 (GRCm39)	I1058T		Het
Dock1	G	A	7: 134,739,886 (GRCm39)		probably null	Het
Dzank1	G	A	2: 144,348,091 (GRCm39)	T225I	probably damaging	Het
Eif3c	G	A	7: 126,151,162 (GRCm39)	R721W	possibly damaging	Het
Fdps	A	G	3: 89,006,674 (GRCm39)	V72A	probably benign	Het
Filip1l	A	G	16: 57,392,796 (GRCm39)	N1128S	probably benign	Het
Fmnl2	T	A	2: 52,991,510 (GRCm39)	Y342N	unknown	Het
Gria1	A	T	11: 57,127,813 (GRCm39)	I410F	possibly damaging	Het
Gsdmc4	C	A	15: 63,765,640 (GRCm39)	S303I	probably damaging	Het
Herc2	C	T	7: 55,841,593 (GRCm39)	P3491S	probably benign	Het
Ift25	A	G	4: 107,130,886 (GRCm39)	I59V	probably benign	Het
Lama2	T	C	10: 27,084,389 (GRCm39)	H927R	possibly damaging	Het
Lrrc8e	T	C	8: 4,284,534 (GRCm39)	M253T	probably damaging	Het
Ltn1	G	T	16: 87,195,574 (GRCm39)	H1317Q	probably damaging	Het
Map6	C	T	7: 98,985,499 (GRCm39)	L671F	possibly damaging	Het
Mki67	C	T	7: 135,303,721 (GRCm39)	V716I	not run	Het
Mllt10	G	C	2: 18,208,423 (GRCm39)	S694T	probably null	Het
Mllt10	A	G	2: 18,208,422 (GRCm39)	S694G	possibly damaging	Het
Mtcl1	A	G	17: 66,687,352 (GRCm39)	L518S	probably damaging	Het
Or2ad1	G	A	13: 21,327,140 (GRCm39)	A29V	probably benign	Het
Pcdh10	G	T	3: 45,335,632 (GRCm39)	D649Y	probably damaging	Het
Pdgfrb	C	T	18: 61,194,340 (GRCm39)	T39M	probably benign	Het
Pls1	T	C	9: 95,655,726 (GRCm39)	E342G	probably benign	Het
Pon1	C	T	6: 5,175,819 (GRCm39)	V235I	probably benign	Het
Rhobtb3	A	T	13: 76,027,056 (GRCm39)	V439E	probably damaging	Het
Septin8	A	G	11: 53,428,414 (GRCm39)	T355A	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Ssc5d	C	T	7: 4,947,168 (GRCm39)	T1174I	probably benign	Het
Sspo	A	T	6: 48,461,163 (GRCm39)	T3535S	probably benign	Het
Stk39	A	G	2: 68,301,983 (GRCm39)	V80A	probably damaging	Het
Sult2b1	T	C	7: 45,384,708 (GRCm39)	I123V	probably benign	Het
Sv2a	A	T	3: 96,095,727 (GRCm39)	I348F	probably benign	Het
Taar8b	T	A	10: 23,967,436 (GRCm39)	R253*	probably null	Het
Tbc1d4	T	C	14: 101,745,077 (GRCm39)	K183R	probably damaging	Het
Tet2	T	A	3: 133,192,610 (GRCm39)	D608V	probably damaging	Het
Tnfsf14	T	A	17: 57,501,024 (GRCm39)	T16S	possibly damaging	Het
Togaram2	A	G	17: 72,023,405 (GRCm39)	T774A	probably benign	Het
Tshr	C	A	12: 91,464,515 (GRCm39)	A87E	probably benign	Het
Tsn	T	C	1: 118,237,505 (GRCm39)	D53G	probably benign	Het
Vav2	T	A	2: 27,187,750 (GRCm39)		probably null	Het
Vmn2r52	T	A	7: 9,893,109 (GRCm39)	I677F	probably damaging	Het
Vmn2r65	T	A	7: 84,592,851 (GRCm39)	Y452F	probably benign	Het
Vmn2r79	A	G	7: 86,687,111 (GRCm39)	R831G	probably damaging	Het
Zfp821	T	C	8: 110,447,871 (GRCm39)	S71P	probably damaging	Het
Zwilch	T	A	9: 64,063,373 (GRCm39)	I286F	probably benign	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
R6997:Usp37	UTSW	1	74,493,118 (GRCm39)	missense	probably benign	0.01
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
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'- TTATAAACAGGTGCTGAAGGAAGTC -3'
(R):5'- ATCCACACAGTGAGTCTTAGACC -3'

Sequencing Primer
(F):5'- ACAGGTGCTGAAGGAAGTCTTTCC -3'
(R):5'- ATATGGAACCCTGATGTGCC -3'

Posted On

2019-11-12