Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00157:Uba7'

1278

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uba7

Ensembl Gene

ENSMUSG00000032596

Gene Name

ubiquitin-like modifier activating enzyme 7

Synonyms

1300004C08Rik, Ube1l

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL00157

Quality Score

Status

Chromosome

Chromosomal Location

107975505-107984060 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107979111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 536 (A536T)

Ref Sequence

ENSEMBL: ENSMUSP00000035216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035216] [ENSMUST00000177392] [ENSMUST00000177368]

AlphaFold

Q9DBK7

Predicted Effect

probably benign
Transcript: ENSMUST00000035216
AA Change: A536T

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: A536T

Domain	Start	End	E-Value	Type
Pfam:ThiF	6	401	1.2e-33	PFAM
Pfam:E1_FCCH	178	249	1.1e-26	PFAM
Pfam:E1_4HB	250	318	2.5e-22	PFAM
internal_repeat_1	402	510	8.05e-5	PROSPERO
Pfam:UBA_e1_thiolCys	592	808	1.3e-50	PFAM
UBA_e1_C	846	973	4.63e-65	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000075082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177071

Predicted Effect

probably benign
Transcript: ENSMUST00000177392

SMART Domains

Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596

Domain	Start	End	E-Value	Type
Pfam:ThiF	22	153	1.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177039

Predicted Effect

probably benign
Transcript: ENSMUST00000177368

SMART Domains

Protein: ENSMUSP00000135553
Gene: ENSMUSG00000079323

Domain	Start	End	E-Value	Type
Blast:UBA_e1_C	1	39	1e-10	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice lacking ISG15 conjugation but not free ISG15 are healthy and fertile and exhibit normal antiviral responses against vesicular stomatitis virus and lymphocytic choriomeningitis virus infection. Bone-derived macrophages from mutant mice display normal responses to IFN treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	A	G	7: 44,253,451	V331A	possibly damaging	Het
Casr	C	A	16: 36,495,810	V633F	probably damaging	Het
Cblb	T	G	16: 52,183,307	V716G	probably benign	Het
Cbln2	C	T	18: 86,716,384	Q156*	probably null	Het
Cnn1	G	T	9: 22,099,397	L14F	possibly damaging	Het
D830013O20Rik	T	C	12: 73,364,247		noncoding transcript	Het
Drd1	A	G	13: 54,053,878	S99P	probably damaging	Het
Fam35a	A	G	14: 34,268,625	V108A	probably benign	Het
Fat1	T	C	8: 44,951,670	V486A	possibly damaging	Het
Galnt7	T	C	8: 57,540,039	N416S	probably damaging	Het
Gm10735	T	C	13: 113,041,484		probably benign	Het
Gm8909	A	T	17: 36,165,354		probably null	Het
Jag2	T	C	12: 112,912,718	T790A	probably benign	Het
Klhdc1	T	A	12: 69,242,008	Y31N	possibly damaging	Het
Lama1	A	T	17: 67,815,928	M2769L	probably benign	Het
Mms19	A	G	19: 41,945,457		probably null	Het
Msrb2	C	A	2: 19,394,341	P172T	probably damaging	Het
Olfr228	T	C	2: 86,483,218	S175G	probably benign	Het
Olfr955	A	G	9: 39,470,243	V161A	probably benign	Het
Pcdhb9	T	A	18: 37,403,279	D775E	possibly damaging	Het
Pkhd1	T	C	1: 20,566,874		probably null	Het
Preb	A	T	5: 30,955,964	D375E	probably damaging	Het
Prkdc	T	C	16: 15,697,226	I1010T	probably damaging	Het
Rbp2	A	G	9: 98,498,897		probably null	Het
Sept9	A	G	11: 117,352,184	T66A	probably damaging	Het
Serpinb9b	A	T	13: 33,035,625	E178D	probably benign	Het
Tg	A	G	15: 66,847,166	Y258C	probably damaging	Het
Tmprss7	T	C	16: 45,663,368	R548G	probably benign	Het
Vmn2r114	G	A	17: 23,291,665	P614S	probably damaging	Het
Xpc	A	G	6: 91,492,264		probably benign	Het
Yrdc	T	C	4: 124,853,961	S86P	probably damaging	Het
Zbed6	G	T	1: 133,657,376	A741D	probably damaging	Het

Other mutations in Uba7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01696:Uba7	APN	9	107977348	missense	probably damaging	1.00
IGL02137:Uba7	APN	9	107979753	splice site	probably benign
IGL02272:Uba7	APN	9	107976153	missense	probably benign	0.01
IGL02287:Uba7	APN	9	107978227	missense	probably benign	0.10
IGL02430:Uba7	APN	9	107979468	splice site	probably benign
IGL02552:Uba7	APN	9	107981390	missense	probably benign	0.00
IGL02820:Uba7	APN	9	107981516	missense	probably benign	0.01
IGL03234:Uba7	APN	9	107976400	missense	probably damaging	0.97
R0013:Uba7	UTSW	9	107978249	missense	probably damaging	1.00
R0013:Uba7	UTSW	9	107978249	missense	probably damaging	1.00
R0717:Uba7	UTSW	9	107977217	missense	probably benign	0.44
R2108:Uba7	UTSW	9	107979288	missense	probably benign
R2253:Uba7	UTSW	9	107976364	missense	probably benign	0.26
R4239:Uba7	UTSW	9	107976802	critical splice donor site	probably null
R4528:Uba7	UTSW	9	107983903	missense	possibly damaging	0.79
R4735:Uba7	UTSW	9	107976916	missense	possibly damaging	0.94
R4736:Uba7	UTSW	9	107980165	missense	probably benign	0.00
R4751:Uba7	UTSW	9	107979805	missense	possibly damaging	0.66
R4937:Uba7	UTSW	9	107978991	missense	possibly damaging	0.95
R4999:Uba7	UTSW	9	107979839	critical splice donor site	probably null
R5020:Uba7	UTSW	9	107978914	missense	probably benign
R5157:Uba7	UTSW	9	107980047	missense	probably benign	0.04
R5214:Uba7	UTSW	9	107977514	intron	probably benign
R5339:Uba7	UTSW	9	107978866	missense	probably damaging	1.00
R5990:Uba7	UTSW	9	107981234	missense	probably damaging	0.96
R6092:Uba7	UTSW	9	107983160	missense	possibly damaging	0.96
R6110:Uba7	UTSW	9	107978939	missense	probably benign	0.25
R6363:Uba7	UTSW	9	107980183	critical splice donor site	probably null
R6495:Uba7	UTSW	9	107977014	nonsense	probably null
R6644:Uba7	UTSW	9	107981472	missense	possibly damaging	0.55
R7032:Uba7	UTSW	9	107976172	missense	possibly damaging	0.83
R7095:Uba7	UTSW	9	107983339	missense	probably benign	0.01
R7517:Uba7	UTSW	9	107976698	splice site	probably benign
R9083:Uba7	UTSW	9	107977967	missense	probably benign	0.00
R9227:Uba7	UTSW	9	107975802	missense	possibly damaging	0.60
X0024:Uba7	UTSW	9	107975945	missense	probably damaging	1.00

Posted On

2011-07-12