Mutagenetix > Incidental Mutation

Incidental Mutation 'R7032:Uba7'

546391

Institutional Source

Beutler Lab

Gene Symbol

Uba7

Ensembl Gene

ENSMUSG00000032596

Gene Name

ubiquitin-like modifier activating enzyme 7

Synonyms

Ube1l, 1300004C08Rik

MMRRC Submission

045133-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R7032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107852766-107861255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107853371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 106 (L106I)

Ref Sequence

ENSEMBL: ENSMUSP00000134910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035216] [ENSMUST00000049348] [ENSMUST00000177392]

AlphaFold

Q9DBK7

Predicted Effect

probably benign
Transcript: ENSMUST00000035216
AA Change: L106I

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: L106I

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: ENSMUST00000049348

SMART Domains

Protein: ENSMUSP00000040001
Gene: ENSMUSG00000032586

Domain	Start	End	E-Value	Type
RING	7	49	6.68e-6	SMART
coiled coil region	70	278	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177392
AA Change: L106I

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596
AA Change: L106I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,438 (GRCm39)	D398E	possibly damaging	Het
Adam34	T	C	8: 44,105,303 (GRCm39)	Y114C	probably damaging	Het
Akap9	T	A	5: 4,004,896 (GRCm39)	D156E	probably benign	Het
Apba1	T	A	19: 23,889,825 (GRCm39)	S408T	probably benign	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atf6	A	T	1: 170,627,181 (GRCm39)		probably null	Het
Atp6v1b2	T	A	8: 69,541,548 (GRCm39)	V35E	probably benign	Het
Atp8a2	T	C	14: 60,255,289 (GRCm39)		probably null	Het
Ccdc170	C	A	10: 4,432,597 (GRCm39)	P12Q	unknown	Het
Cdh23	C	T	10: 60,167,567 (GRCm39)	E1810K	probably damaging	Het
Cdo1	A	T	18: 46,853,475 (GRCm39)	F94L	probably damaging	Het
Cfap96	T	G	8: 46,409,474 (GRCm39)	S282R	probably damaging	Het
Chdh	C	T	14: 29,758,809 (GRCm39)	P585S	possibly damaging	Het
Clasp2	A	G	9: 113,683,391 (GRCm39)	N407S	probably benign	Het
Clca3a1	T	A	3: 144,453,329 (GRCm39)	S465C	probably benign	Het
Clip2	C	A	5: 134,551,484 (GRCm39)	V213L	probably damaging	Het
Col6a6	A	G	9: 105,644,707 (GRCm39)	S1194P	probably damaging	Het
Cyp7a1	T	C	4: 6,268,463 (GRCm39)	T421A	possibly damaging	Het
Dhh	C	T	15: 98,791,907 (GRCm39)	G367E	possibly damaging	Het
Dnah5	A	G	15: 28,326,796 (GRCm39)	N2002D	probably damaging	Het
Epn2	T	A	11: 61,437,528 (GRCm39)	N15Y	probably damaging	Het
Evi5	A	C	5: 107,936,147 (GRCm39)	V647G	probably benign	Het
Eya1	T	C	1: 14,353,424 (GRCm39)		probably null	Het
Fam120a	A	G	13: 49,102,589 (GRCm39)	V222A	probably benign	Het
Fastkd5	A	T	2: 130,457,864 (GRCm39)	I242K	possibly damaging	Het
Hnrnpul1	A	G	7: 25,450,319 (GRCm39)	M131T	probably benign	Het
Ice1	T	C	13: 70,744,283 (GRCm39)	N2100S	probably damaging	Het
Ifi205	T	A	1: 173,855,916 (GRCm39)	D38V	possibly damaging	Het
Klhl9	G	A	4: 88,639,843 (GRCm39)	Q133*	probably null	Het
Krt84	T	C	15: 101,436,924 (GRCm39)	E370G	probably benign	Het
Lrrc4c	T	C	2: 97,459,410 (GRCm39)	I12T	probably benign	Het
Lrriq4	T	A	3: 30,709,850 (GRCm39)	L398*	probably null	Het
Ltf	G	A	9: 110,855,198 (GRCm39)		probably null	Het
Macf1	C	T	4: 123,366,101 (GRCm39)	V1322I	probably benign	Het
Mark2	T	A	19: 7,264,698 (GRCm39)	I112L	probably damaging	Het
Mettl25b	A	G	3: 87,831,649 (GRCm39)		probably null	Het
Mterf2	A	T	10: 84,956,527 (GRCm39)	C32*	probably null	Het
Myo3b	C	T	2: 69,925,608 (GRCm39)	T25I	probably damaging	Het
Nsun7	A	C	5: 66,421,378 (GRCm39)	I115L	probably benign	Het
Olfm3	G	A	3: 114,883,805 (GRCm39)	V36M	probably damaging	Het
Or1p1c	T	C	11: 74,160,428 (GRCm39)	I71T	possibly damaging	Het
Or5d44	T	C	2: 88,141,373 (GRCm39)	T256A	probably benign	Het
Or8b3	A	T	9: 38,314,965 (GRCm39)	Y262F	possibly damaging	Het
Or8g18	A	T	9: 39,148,983 (GRCm39)	S246T	possibly damaging	Het
Pcdhgb8	A	T	18: 37,896,962 (GRCm39)	R677S	probably benign	Het
Prrt4	A	C	6: 29,170,538 (GRCm39)	L638R	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rab44	T	C	17: 29,359,438 (GRCm39)	F542S	unknown	Het
Rhobtb3	T	A	13: 76,020,513 (GRCm39)	E596D	probably benign	Het
Rpl36	T	C	17: 56,920,944 (GRCm39)	I44T	probably benign	Het
Rptor	A	G	11: 119,737,762 (GRCm39)	I112V	probably benign	Het
Rxfp2	T	C	5: 149,993,813 (GRCm39)	I611T	probably damaging	Het
Slc12a4	G	T	8: 106,675,865 (GRCm39)	N553K	probably damaging	Het
Spata31d1d	T	A	13: 59,876,046 (GRCm39)	R496S	probably benign	Het
Strbp	T	C	2: 37,493,125 (GRCm39)	D387G	possibly damaging	Het
Tas2r107	A	T	6: 131,636,153 (GRCm39)	C299S	possibly damaging	Het
Tbc1d21	A	T	9: 58,274,134 (GRCm39)		probably null	Het
Tdrd12	A	T	7: 35,180,471 (GRCm39)	Y847*	probably null	Het
Tlr2	A	T	3: 83,745,212 (GRCm39)	N290K	probably benign	Het
Tmppe	A	G	9: 114,234,858 (GRCm39)	T386A	probably damaging	Het
Tnks1bp1	C	A	2: 84,892,297 (GRCm39)	H741Q	probably benign	Het
Trpc6	G	A	9: 8,609,951 (GRCm39)	V140M	probably damaging	Het
Ttn	T	C	2: 76,641,932 (GRCm39)	D13427G	probably damaging	Het
Unc5b	T	G	10: 60,614,587 (GRCm39)	T237P	probably damaging	Het
Vit	A	C	17: 78,932,294 (GRCm39)	D467A	probably damaging	Het
Vmn1r103	T	C	7: 20,243,780 (GRCm39)	Y227C	possibly damaging	Het
Vmn1r77	T	A	7: 11,776,017 (GRCm39)	Y196*	probably null	Het
Zhx3	A	G	2: 160,622,898 (GRCm39)	V423A	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
IGL02287:Uba7	APN	9	107,855,426 (GRCm39)	missense	probably benign	0.10
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGCTCAGGTAAGAGTTCTTG -3'
(R):5'- TTGTGACACAAAGGTCCCACC -3'

Sequencing Primer
(F):5'- TATGCTGCCTCCCAGAGCAG -3'
(R):5'- GGTCCCACCTTCAGCTGGTC -3'

Posted On

2019-05-13