Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01089:Usp37'

50235

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp37

Ensembl Gene

ENSMUSG00000033364

Gene Name

ubiquitin specific peptidase 37

Synonyms

C330008N13Rik, 4932415L06Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01089

Quality Score

Status

Chromosome

Chromosomal Location

74435511-74544284 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 74493046 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 63 (R63*)

Ref Sequence

ENSEMBL: ENSMUSP00000140670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044260] [ENSMUST00000186282] [ENSMUST00000189257]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000044260
AA Change: R63*

SMART Domains

Protein: ENSMUSP00000035445
Gene: ENSMUSG00000033364
AA Change: R63*

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: ENSMUST00000186282

Predicted Effect

probably null
Transcript: ENSMUST00000189257
AA Change: R63*

SMART Domains

Protein: ENSMUSP00000140670
Gene: ENSMUSG00000033364
AA Change: R63*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191058

Coding Region Coverage

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,337	E180G	possibly damaging	Het
Actr8	T	C	14: 29,988,335	L353S	probably damaging	Het
Adgrf2	G	A	17: 42,710,158	P592S	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Afap1l2	A	C	19: 56,913,411		probably null	Het
Asnsd1	G	A	1: 53,348,277	P64S	probably damaging	Het
Bmt2	A	G	6: 13,663,271	M76T	probably damaging	Het
Clca3b	A	T	3: 144,823,522	V797D	probably benign	Het
Cog2	T	C	8: 124,545,243	S499P	probably benign	Het
Cyp27a1	A	T	1: 74,731,938	Y94F	possibly damaging	Het
D430042O09Rik	A	G	7: 125,795,313	E187G	probably damaging	Het
D630045J12Rik	A	G	6: 38,136,963	S1765P	probably benign	Het
Fam149a	A	G	8: 45,348,527	L519P	possibly damaging	Het
Fam171a2	G	A	11: 102,437,848	A695V	possibly damaging	Het
Fat1	T	A	8: 45,017,857	V1566E	probably damaging	Het
Flvcr1	T	G	1: 191,013,390	N361H	probably damaging	Het
Gm1110	T	C	9: 26,881,860	N540S	probably benign	Het
Kcns3	T	A	12: 11,091,571	T376S	possibly damaging	Het
Krt32	A	G	11: 100,087,779	S150P	probably benign	Het
Lrtm2	C	T	6: 119,320,792	R96Q	possibly damaging	Het
Mctp1	A	G	13: 77,020,798	E838G	probably damaging	Het
Mios	T	C	6: 8,234,363		probably null	Het
Olfr338	A	T	2: 36,377,166	Y130F	probably damaging	Het
Phldb1	T	A	9: 44,707,887	K167*	probably null	Het
Pkhd1l1	A	G	15: 44,483,869		probably benign	Het
Plaa	A	G	4: 94,574,047	V531A	probably benign	Het
Psmb2	A	G	4: 126,684,206	Y59C	probably damaging	Het
Ptprg	A	G	14: 12,215,286	H1091R	probably damaging	Het
Rbm44	T	A	1: 91,168,697	V926D	possibly damaging	Het
Rgma	G	T	7: 73,409,714	V189L	possibly damaging	Het
Sbf2	A	T	7: 110,348,962	I1227K	probably damaging	Het
Slc8a1	T	C	17: 81,648,281	T443A	probably damaging	Het
Slc8a1	A	G	17: 81,388,881	V896A	probably damaging	Het
Taf2	T	C	15: 55,016,581	M1120V	probably benign	Het
Ugt2b34	C	T	5: 86,906,326	V199I	probably benign	Het
Unc5c	C	A	3: 141,818,202		probably benign	Het

Other mutations in Usp37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Usp37	APN	1	74490154	missense	probably benign	0.05
IGL00961:Usp37	APN	1	74490155	missense	probably benign
IGL01348:Usp37	APN	1	74461702	missense	probably damaging	0.98
IGL01609:Usp37	APN	1	74475040	missense	probably benign	0.02
PIT4544001:Usp37	UTSW	1	74470579	missense	possibly damaging	0.65
R0331:Usp37	UTSW	1	74454064	nonsense	probably null
R0332:Usp37	UTSW	1	74495710	missense	possibly damaging	0.47
R0418:Usp37	UTSW	1	74490107	missense	probably benign	0.01
R0456:Usp37	UTSW	1	74468348	missense	probably damaging	1.00
R1605:Usp37	UTSW	1	74493004	missense	possibly damaging	0.59
R1756:Usp37	UTSW	1	74479655	missense	probably benign	0.20
R1971:Usp37	UTSW	1	74439968	nonsense	probably null
R2061:Usp37	UTSW	1	74468272	missense	probably damaging	1.00
R2130:Usp37	UTSW	1	74461656	missense	probably damaging	1.00
R2215:Usp37	UTSW	1	74444526	missense	probably damaging	1.00
R2867:Usp37	UTSW	1	74450532	missense	probably damaging	1.00
R2867:Usp37	UTSW	1	74450532	missense	probably damaging	1.00
R3716:Usp37	UTSW	1	74492986	missense	possibly damaging	0.93
R5077:Usp37	UTSW	1	74441561	missense	probably damaging	0.99
R5635:Usp37	UTSW	1	74495811	start gained	probably benign
R5826:Usp37	UTSW	1	74470626	missense	probably damaging	0.99
R5933:Usp37	UTSW	1	74485982	missense	probably damaging	0.98
R6048:Usp37	UTSW	1	74478136	splice site	probably null
R6169:Usp37	UTSW	1	74495751	missense	probably damaging	0.99
R6193:Usp37	UTSW	1	74492928	missense	probably damaging	1.00
R6235:Usp37	UTSW	1	74475133	nonsense	probably null
R6361:Usp37	UTSW	1	74453893	missense	probably benign	0.06
R6572:Usp37	UTSW	1	74495782	missense	possibly damaging	0.95
R6759:Usp37	UTSW	1	74495749	nonsense	probably null
R6997:Usp37	UTSW	1	74453959	missense	probably benign	0.01
R7471:Usp37	UTSW	1	74495628	critical splice donor site	probably null
R7632:Usp37	UTSW	1	74468374	missense	probably benign	0.04
R7691:Usp37	UTSW	1	74486760	frame shift	probably null
R8954:Usp37	UTSW	1	74474984	critical splice donor site	probably null
R9280:Usp37	UTSW	1	74450540	missense	probably damaging	0.98
R9484:Usp37	UTSW	1	74459922	missense	probably damaging	1.00
RF017:Usp37	UTSW	1	74470690	missense	probably damaging	1.00
X0058:Usp37	UTSW	1	74453923	missense	probably damaging	1.00

Posted On

2013-06-21