Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02287:Uba7'

289995

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uba7

Ensembl Gene

ENSMUSG00000032596

Gene Name

ubiquitin-like modifier activating enzyme 7

Synonyms

Ube1l, 1300004C08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL02287

Quality Score

Status

Chromosome

Chromosomal Location

107852766-107861255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107855426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 368 (M368V)

Ref Sequence

ENSEMBL: ENSMUSP00000134910 (fasta)

Gene Model

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

AlphaFold

Q9DBK7

Predicted Effect

probably benign
Transcript: ENSMUST00000035216
AA Change: M368V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: M368V

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

probably benign
Transcript: ENSMUST00000177392
AA Change: M368V

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596
AA Change: M368V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176842

Predicted Effect

probably benign
Transcript: ENSMUST00000177039

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: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	G	11: 58,771,418 (GRCm39)	D300G	probably benign	Het
Dot1l	A	G	10: 80,600,443 (GRCm39)	H30R	possibly damaging	Het
Gm1818	A	T	12: 48,602,505 (GRCm39)		noncoding transcript	Het
Isca2	G	T	12: 84,820,114 (GRCm39)	V14F	probably benign	Het
Or4a80	A	T	2: 89,582,958 (GRCm39)	Y71*	probably null	Het
Ppp4r4	A	T	12: 103,553,747 (GRCm39)	T402S	probably benign	Het
Slc25a13	T	C	6: 6,216,992 (GRCm39)		probably benign	Het
Trrap	T	C	5: 144,769,348 (GRCm39)	W2618R	probably damaging	Het

Other mutations in Uba7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Uba7	APN	9	107,856,310 (GRCm39)	missense	probably benign	0.31
IGL01696:Uba7	APN	9	107,854,547 (GRCm39)	missense	probably damaging	1.00
IGL02137:Uba7	APN	9	107,856,952 (GRCm39)	splice site	probably benign
IGL02272:Uba7	APN	9	107,853,352 (GRCm39)	missense	probably benign	0.01
IGL02430:Uba7	APN	9	107,856,667 (GRCm39)	splice site	probably benign
IGL02552:Uba7	APN	9	107,858,589 (GRCm39)	missense	probably benign	0.00
IGL02820:Uba7	APN	9	107,858,715 (GRCm39)	missense	probably benign	0.01
IGL03234:Uba7	APN	9	107,853,599 (GRCm39)	missense	probably damaging	0.97
R0013:Uba7	UTSW	9	107,855,448 (GRCm39)	missense	probably damaging	1.00
R0013:Uba7	UTSW	9	107,855,448 (GRCm39)	missense	probably damaging	1.00
R0717:Uba7	UTSW	9	107,854,416 (GRCm39)	missense	probably benign	0.44
R2108:Uba7	UTSW	9	107,856,487 (GRCm39)	missense	probably benign
R2253:Uba7	UTSW	9	107,853,563 (GRCm39)	missense	probably benign	0.26
R4239:Uba7	UTSW	9	107,854,001 (GRCm39)	critical splice donor site	probably null
R4528:Uba7	UTSW	9	107,861,102 (GRCm39)	missense	possibly damaging	0.79
R4735:Uba7	UTSW	9	107,854,115 (GRCm39)	missense	possibly damaging	0.94
R4736:Uba7	UTSW	9	107,857,364 (GRCm39)	missense	probably benign	0.00
R4751:Uba7	UTSW	9	107,857,004 (GRCm39)	missense	possibly damaging	0.66
R4937:Uba7	UTSW	9	107,856,190 (GRCm39)	missense	possibly damaging	0.95
R4999:Uba7	UTSW	9	107,857,038 (GRCm39)	critical splice donor site	probably null
R5020:Uba7	UTSW	9	107,856,113 (GRCm39)	missense	probably benign
R5157:Uba7	UTSW	9	107,857,246 (GRCm39)	missense	probably benign	0.04
R5214:Uba7	UTSW	9	107,854,713 (GRCm39)	intron	probably benign
R5339:Uba7	UTSW	9	107,856,065 (GRCm39)	missense	probably damaging	1.00
R5990:Uba7	UTSW	9	107,858,433 (GRCm39)	missense	probably damaging	0.96
R6092:Uba7	UTSW	9	107,860,359 (GRCm39)	missense	possibly damaging	0.96
R6110:Uba7	UTSW	9	107,856,138 (GRCm39)	missense	probably benign	0.25
R6363:Uba7	UTSW	9	107,857,382 (GRCm39)	critical splice donor site	probably null
R6495:Uba7	UTSW	9	107,854,213 (GRCm39)	nonsense	probably null
R6644:Uba7	UTSW	9	107,858,671 (GRCm39)	missense	possibly damaging	0.55
R7032:Uba7	UTSW	9	107,853,371 (GRCm39)	missense	possibly damaging	0.83
R7095:Uba7	UTSW	9	107,860,538 (GRCm39)	missense	probably benign	0.01
R7517:Uba7	UTSW	9	107,853,897 (GRCm39)	splice site	probably benign
R9083:Uba7	UTSW	9	107,855,166 (GRCm39)	missense	probably benign	0.00
R9227:Uba7	UTSW	9	107,853,001 (GRCm39)	missense	possibly damaging	0.60
R9484:Uba7	UTSW	9	107,861,037 (GRCm39)	missense	probably benign	0.00
X0024:Uba7	UTSW	9	107,853,144 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16