Mutagenetix > Incidental Mutation

Incidental Mutation 'R9484:Uba7'

716451

Institutional Source

Beutler Lab

Gene Symbol

Uba7

Ensembl Gene

ENSMUSG00000032596

Gene Name

ubiquitin-like modifier activating enzyme 7

Synonyms

1300004C08Rik, Ube1l

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R9484 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107975505-107984060 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107983838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 942 (H942Q)

Ref Sequence

ENSEMBL: ENSMUSP00000035216 (fasta)

Gene Model

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

AlphaFold

Q9DBK7

Predicted Effect

probably benign
Transcript: ENSMUST00000035216
AA Change: H942Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: H942Q

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

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,112,786	C151S	probably damaging	Het
Actr8	T	C	14: 29,986,344	I193T	probably benign	Het
Btbd2	T	C	10: 80,644,269	N419S	probably benign	Het
Cacna2d1	T	A	5: 16,356,833	W821R	probably damaging	Het
Cadps2	T	C	6: 23,626,647	Y214C	probably benign	Het
Calu	T	A	6: 29,366,163	L180Q	probably damaging	Het
Corin	C	T	5: 72,339,937	V615I	probably damaging	Het
Cyp8b1	A	T	9: 121,915,917	D116E	probably benign	Het
D630036H23Rik	C	A	12: 36,381,712	A96S	unknown	Het
Ddx24	A	T	12: 103,411,296	Y717N	probably damaging	Het
Dmap1	G	T	4: 117,676,111	Q249K	probably benign	Het
Dnah10	T	A	5: 124,823,444	W3922R	probably damaging	Het
Dnah14	T	C	1: 181,690,208	F2036L	probably benign	Het
Dnah14	T	C	1: 181,797,746	I4064T	probably benign	Het
Dock9	A	C	14: 121,581,432	V1546G	probably damaging	Het
Eif3a	A	T	19: 60,766,568	S1059T	unknown	Het
Ep300	A	G	15: 81,636,825	E1262G	unknown	Het
Evl	T	A	12: 108,686,457	I387N	probably damaging	Het
Fat2	A	C	11: 55,309,926	V774G	probably damaging	Het
Fez1	T	A	9: 36,843,797	Y31N	probably benign	Het
Fkbp10	A	G	11: 100,423,134	I435V	probably damaging	Het
Flnb	A	G	14: 7,929,004	D1911G	probably benign	Het
Fnbp1	T	C	2: 31,083,026	Y154C	probably benign	Het
Fndc10	T	C	4: 155,695,039	I180T	possibly damaging	Het
Frmd4a	G	A	2: 4,604,215	V965I	possibly damaging	Het
Gabrr2	A	G	4: 33,071,352	H64R	possibly damaging	Het
Glis3	T	C	19: 28,531,003	D527G	probably damaging	Het
Gm2022	A	T	12: 87,895,479	Q37L	possibly damaging	Het
H2-Ob	T	A	17: 34,241,015	F33L	probably damaging	Het
Hbb-bh1	C	T	7: 103,843,032	E27K	probably benign	Het
Ifnb1	T	A	4: 88,522,678	T33S	probably benign	Het
Igkv4-80	T	A	6: 69,016,782	T42S	probably damaging	Het
Irs2	C	T	8: 11,007,334	G366D	probably damaging	Het
Kcnk2	CAAA	CAA	1: 189,256,694		probably null	Het
Krtap5-3	T	A	7: 142,202,331	C302S	unknown	Het
Lgi1	A	G	19: 38,306,309	K510E	probably benign	Het
Lgi2	T	A	5: 52,538,594	D341V	probably benign	Het
Lin7c	T	C	2: 109,894,468	I14T	probably benign	Het
Lrrc19	A	T	4: 94,643,336	M13K	probably benign	Het
Lrrc69	T	C	4: 14,666,012	I315M	probably benign	Het
Myo5c	A	T	9: 75,297,488	D1541V	probably damaging	Het
Mypn	T	G	10: 63,167,240	M373L	probably benign	Het
Nckipsd	C	A	9: 108,812,638	H333N	probably damaging	Het
Nrg2	A	T	18: 36,024,348	L428Q	probably null	Het
Olfr1367	C	A	13: 21,347,417	T163K	probably damaging	Het
Olfr235	T	C	19: 12,268,371	I47T	possibly damaging	Het
Olfr53	T	C	7: 140,651,991	L4S	probably benign	Het
Otogl	T	A	10: 107,822,033		probably null	Het
Otogl	C	T	10: 107,901,295	G86D	probably damaging	Het
Papln	A	T	12: 83,791,844	Q1249L	probably benign	Het
Plxna2	G	T	1: 194,644,894	G379C	probably damaging	Het
Pofut2	T	C	10: 77,259,426	I35T	probably benign	Het
Pros1	A	G	16: 62,924,524	T501A	possibly damaging	Het
Rapgef1	T	C	2: 29,735,809	S1042P	possibly damaging	Het
Rps6kb1	C	T	11: 86,517,617	E185K	probably damaging	Het
Slc13a2	A	T	11: 78,403,407	L216Q	probably damaging	Het
Slc22a14	T	C	9: 119,180,549	Y160C	probably damaging	Het
Slc22a4	T	A	11: 53,988,947	I429F	possibly damaging	Het
Slc26a3	A	G	12: 31,461,786	K457E	probably damaging	Het
Slc47a2	T	C	11: 61,336,234	I169M	possibly damaging	Het
Slco1a1	C	T	6: 141,908,946	V660I	probably benign	Het
Smyd1	A	G	6: 71,225,466	Y252H	probably damaging	Het
Soga3	G	A	10: 29,196,973	D754N	probably damaging	Het
Spp2	A	T	1: 88,406,973		probably benign	Het
Stra8	T	A	6: 34,934,186	W250R	probably damaging	Het
Syne1	A	C	10: 5,220,359	L5183R	probably damaging	Het
Tdrd9	T	C	12: 112,046,250	S1203P	probably damaging	Het
Th	C	A	7: 142,899,883	E27*	probably null	Het
Thada	C	A	17: 84,429,191	L887F	probably damaging	Het
Timm23	T	C	14: 32,180,629	T186A	probably benign	Het
Tmem132b	A	T	5: 125,783,356	E555V	probably damaging	Het
Tnik	A	T	3: 28,594,944	Q457L	unknown	Het
Upf2	T	C	2: 5,961,267	S233P	unknown	Het
Urm1	T	A	2: 29,842,748	N72K	probably damaging	Het
Usp10	T	C	8: 119,948,765	S508P	possibly damaging	Het
Usp37	G	A	1: 74,459,922	P632S	probably damaging	Het
Wdr77	T	A	3: 105,965,088	N209K	probably benign	Het
Zbtb24	C	T	10: 41,451,433	T105M	probably benign	Het
Zfp341	T	A	2: 154,643,843	I671N	probably damaging	Het
Zfp414	A	G	17: 33,630,010	T73A	probably benign	Het
Zfp574	A	T	7: 25,081,979	I809F	possibly damaging	Het
Zfp62	T	C	11: 49,217,281	I733T	probably damaging	Het
Zfp719	A	G	7: 43,590,157	I390V	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CCAGCTGCTCCTAAAATAGTTTC -3'
(R):5'- TTGTGCCTTCCGTCAACAAG -3'

Sequencing Primer
(F):5'- GCTGCTCCTAAAATAGTTTCAGATG -3'
(R):5'- CTGCTGTGAGCTGAAGATGTAG -3'

Posted On

2022-07-18