Mutagenetix > Incidental Mutations

Incidental Mutation 'R4751:Uba7'

357607

Institutional Source

Beutler Lab

Gene Symbol

Uba7

Ensembl Gene

ENSMUSG00000032596

Gene Name

ubiquitin-like modifier activating enzyme 7

Synonyms

1300004C08Rik, Ube1l

MMRRC Submission

041970-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R4751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107975505-107984060 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107979805 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 686 (C686S)

Ref Sequence

ENSEMBL: ENSMUSP00000035216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035216] [ENSMUST00000048568] [ENSMUST00000175914] [ENSMUST00000177368] [ENSMUST00000177392]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035216
AA Change: C686S

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: C686S

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

probably benign
Transcript: ENSMUST00000048568

SMART Domains

Protein: ENSMUSP00000040433
Gene: ENSMUSG00000042106

Domain	Start	End	E-Value	Type
low complexity region	52	73	N/A	INTRINSIC
Pfam:FAM212	146	201	1.7e-30	PFAM
low complexity region	228	237	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000075082

Predicted Effect

probably benign
Transcript: ENSMUST00000175914

SMART Domains

Protein: ENSMUSP00000134980
Gene: ENSMUSG00000042106

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC

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: 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

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

Meta Mutation Damage Score

0.6567

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (124/131)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	T	7: 128,237,086	C112S	probably benign	Het
Abca13	G	A	11: 9,277,973		probably null	Het
Abca14	A	G	7: 120,312,177	E1328G	probably benign	Het
Abca9	T	A	11: 110,130,570	I1105F	probably benign	Het
Abr	T	C	11: 76,456,608	N396D	possibly damaging	Het
Aftph	A	C	11: 20,727,074	C178W	probably damaging	Het
Akr1c14	T	C	13: 4,065,338	F89S	possibly damaging	Het
Ank3	C	T	10: 69,986,206	A1518V	probably benign	Het
Arfgap2	T	G	2: 91,267,368	S143R	probably benign	Het
Aspdh	T	A	7: 44,467,205	C107*	probably null	Het
Asphd2	C	A	5: 112,391,746	G74W	probably damaging	Het
AU040320	G	A	4: 126,854,466		probably null	Het
B3glct	T	A	5: 149,725,402		probably null	Het
Bcl9l	A	G	9: 44,506,803	K646R	probably damaging	Het
Brat1	T	G	5: 140,718,296	L768R	probably damaging	Het
Btbd18	T	A	2: 84,667,921	Y634*	probably null	Het
Bub1	T	A	2: 127,823,938		probably benign	Het
Carns1	A	T	19: 4,166,418	D588E	probably damaging	Het
Cast	T	C	13: 74,746,047	K141E	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Chsy3	T	C	18: 59,175,800	S42P	possibly damaging	Het
Clca1	A	T	3: 145,004,848	F865I	possibly damaging	Het
Clec4f	T	A	6: 83,645,282	M526L	possibly damaging	Het
Clnk	T	C	5: 38,720,913	E301G	probably benign	Het
Colgalt2	T	A	1: 152,489,876	I309N	probably benign	Het
Cyp2e1	A	T	7: 140,774,716	K326*	probably null	Het
Dagla	T	A	19: 10,250,394	T717S	probably benign	Het
Dnajc11	G	A	4: 151,968,542	R141H	probably benign	Het
Dst	A	G	1: 34,191,884	K2853E	probably benign	Het
Eif4g1	A	G	16: 20,686,515	K1208E	possibly damaging	Het
Elane	A	G	10: 79,886,791	R48G	probably benign	Het
Fbxo30	T	A	10: 11,290,195	N220K	probably benign	Het
Fbxo33	A	T	12: 59,200,928		probably benign	Het
Fetub	G	A	16: 22,937,895	V169I	probably benign	Het
Gm13762	A	G	2: 88,973,133	C253R	probably damaging	Het
Gm5861	T	A	5: 11,186,491	Y138N	probably damaging	Het
Gpx6	A	C	13: 21,317,064	Q107H	probably damaging	Het
Hist2h2bb	A	T	3: 96,269,151		probably benign	Het
Homer3	A	T	8: 70,285,434	I19F	probably damaging	Het
Hspa4	C	T	11: 53,284,199	V144I	probably benign	Het
Icos	C	T	1: 60,993,717	S25L	probably benign	Het
Ifna4	A	G	4: 88,841,948	T30A	probably benign	Het
Ino80b	C	T	6: 83,124,750	G46D	probably damaging	Het
Kpna2	T	G	11: 106,992,664	I100L	possibly damaging	Het
Krt71	C	T	15: 101,735,466	G446R	probably damaging	Het
Krtap31-2	A	G	11: 99,936,576	N78S	possibly damaging	Het
Lman1	A	G	18: 65,998,434	S132P	probably benign	Het
Lmna	T	C	3: 88,486,533	Q246R	possibly damaging	Het
Lrp10	T	A	14: 54,468,592	V413E	probably damaging	Het
Macf1	A	C	4: 123,471,650	I1541S	probably benign	Het
Med24	A	G	11: 98,706,432	L874P	probably damaging	Het
Mgll	T	A	6: 88,725,111		probably benign	Het
Mrpl37	A	T	4: 107,057,475	L364Q	probably damaging	Het
Mrpl47	C	T	3: 32,728,441	R209H	probably benign	Het
Muc5ac	T	C	7: 141,817,601	F3285L	probably benign	Het
Mylk	A	G	16: 34,879,169	R301G	probably benign	Het
Nacad	A	G	11: 6,605,726	L8P	unknown	Het
Ncf1	T	A	5: 134,229,545	H8L	probably damaging	Het
Ncoa3	T	A	2: 166,069,903	M1383K	possibly damaging	Het
Necab2	C	T	8: 119,467,598	S271L	probably benign	Het
Nme8	A	T	13: 19,675,638		probably null	Het
Nsrp1	T	G	11: 77,076,719	T16P	possibly damaging	Het
Obox3	A	T	7: 15,625,692		probably null	Het
Olfr1211	T	A	2: 88,929,914	I134F	probably damaging	Het
Olfr1416	C	A	1: 92,479,983	A213S	probably benign	Het
Olfr1428	T	A	19: 12,109,177	Y123F	probably damaging	Het
Olfr355	T	C	2: 36,927,583	H177R	probably damaging	Het
Olfr667	A	T	7: 104,916,410	Y295*	probably null	Het
Osbpl3	C	G	6: 50,300,997	E790Q	possibly damaging	Het
Osmr	A	T	15: 6,842,852	W254R	probably damaging	Het
Otoa	T	C	7: 121,132,924		probably benign	Het
Pagr1a	A	T	7: 127,015,379	L218H	probably damaging	Het
Pcdha11	G	A	18: 37,006,944	G542D	probably damaging	Het
Pck2	T	A	14: 55,542,561	I54N	probably damaging	Het
Ppif	T	C	14: 25,699,499	V173A	probably damaging	Het
Ptgs2	T	A	1: 150,104,020	L292H	probably damaging	Het
Ptpru	A	G	4: 131,802,586	S604P	probably damaging	Het
Qrfpr	T	C	3: 36,182,622	H210R	possibly damaging	Het
Rasgrf1	A	G	9: 89,910,118	T41A	probably damaging	Het
Rasgrf1	A	G	9: 90,012,866	H1113R	probably damaging	Het
Rhoc	T	A	3: 104,792,647	I80N	probably damaging	Het
Riok3	A	G	18: 12,153,983	N472S	probably benign	Het
Rnf213	A	G	11: 119,445,745	Y3314C	probably benign	Het
Shank2	C	T	7: 144,409,468	T264I	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sipa1l1	A	G	12: 82,341,194	I65V	probably benign	Het
Slc22a19	T	C	19: 7,691,145	K291R	possibly damaging	Het
Slc22a20	T	C	19: 5,980,460	I315V	probably benign	Het
Slc44a1	A	T	4: 53,560,973	D563V	probably damaging	Het
Smchd1	A	T	17: 71,391,468	H1104Q	probably benign	Het
Spcs2	A	T	7: 99,844,769		probably null	Het
Sptb	T	C	12: 76,627,110	E301G	probably benign	Het
Stum	T	C	1: 180,442,669	D86G	probably damaging	Het
Sufu	A	T	19: 46,483,649	D449V	probably benign	Het
Sun5	T	C	2: 153,866,016		probably null	Het
Tbc1d15	T	A	10: 115,202,587	I574F	probably damaging	Het
Tert	G	A	13: 73,628,063	S311N	possibly damaging	Het
Tiparp	T	C	3: 65,552,804	Y507H	probably damaging	Het
Tnk2	T	C	16: 32,679,857	C158R	probably damaging	Het
Tpgs1	T	C	10: 79,675,620	S199P	possibly damaging	Het
Trdmt1	G	T	2: 13,544,653		probably benign	Het
Trp53bp1	T	A	2: 121,227,809	D944V	probably damaging	Het
Tsc1	T	A	2: 28,679,081	I720N	probably damaging	Het
Ttn	T	C	2: 76,709,605	T34346A	probably benign	Het
Ttn	T	C	2: 76,897,581		probably benign	Het
Ush2a	T	A	1: 188,850,087	F3782L	probably damaging	Het
Vars2	A	T	17: 35,659,343	H745Q	possibly damaging	Het
Vgf	T	A	5: 137,032,401	D472E	probably damaging	Het
Vmn2r15	T	C	5: 109,286,754	M695V	probably benign	Het
Vps41	A	T	13: 18,811,622	D208V	probably damaging	Het
Vta1	C	T	10: 14,655,816	A272T	probably benign	Het
Wnk4	G	A	11: 101,276,362		probably benign	Het
Zfp507	T	C	7: 35,794,382	K412R	probably damaging	Het
Zfp768	A	G	7: 127,344,762	F65L	possibly damaging	Het
Zfp956	T	C	6: 47,963,576	S290P	probably benign	Het

Other mutations in Uba7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Uba7	APN	9	107979111	missense	probably benign	0.31
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
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
X0024:Uba7	UTSW	9	107975945	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACTGCAGCAAGTGATGGG -3'
(R):5'- ATGGGATGCATTGCCCTTCTG -3'

Sequencing Primer
(F):5'- ATGGGTGTCCTGAGAACTCGC -3'
(R):5'- GATGCATTGCCCTTCTGTGGATC -3'

Posted On

2015-11-11