Mutagenetix > Incidental Mutation

Incidental Mutation 'R9083:Uba7'

690410

Institutional Source

Beutler Lab

Gene Symbol

Uba7

Ensembl Gene

ENSMUSG00000032596

Gene Name

ubiquitin-like modifier activating enzyme 7

Synonyms

Ube1l, 1300004C08Rik

MMRRC Submission

068902-MU

Accession Numbers

Essential gene?

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

Stock #

R9083 (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 107855166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 343 (T343N)

Ref Sequence

ENSEMBL: ENSMUSP00000035216 (fasta)

Gene Model

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

AlphaFold

Q9DBK7

Predicted Effect

probably benign
Transcript: ENSMUST00000035216
AA Change: T343N

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

SMART Domains

Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: T343N

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: ENSMUST00000177039

Predicted Effect

probably benign
Transcript: ENSMUST00000177392
AA Change: T343N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596
AA Change: T343N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,534,524 (GRCm39)	S844R	possibly damaging	Het
Adig	C	A	2: 158,347,709 (GRCm39)		probably benign	Het
Aspm	A	G	1: 139,421,436 (GRCm39)	N3106S	possibly damaging	Het
Bcas1	A	T	2: 170,190,081 (GRCm39)		probably benign	Het
Bco1	A	C	8: 117,844,143 (GRCm39)	I286L	probably benign	Het
Bnc1	C	T	7: 81,624,646 (GRCm39)	V194I	probably benign	Het
Bptf	G	A	11: 106,959,176 (GRCm39)	R1912W	probably damaging	Het
Cacna1a	A	G	8: 85,344,511 (GRCm39)	I1858V	probably benign	Het
Chdh	T	C	14: 29,753,703 (GRCm39)	F204S	probably damaging	Het
Cic	A	G	7: 24,985,470 (GRCm39)	T1212A	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cts8	A	G	13: 61,397,036 (GRCm39)	Y295H	probably damaging	Het
Cyp1a2	T	C	9: 57,587,572 (GRCm39)	T333A	probably benign	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dmxl2	T	C	9: 54,316,548 (GRCm39)	I1613V	probably benign	Het
Eme1	A	G	11: 94,540,958 (GRCm39)	L260S	probably damaging	Het
Ermp1	A	C	19: 29,623,415 (GRCm39)	S192A	probably benign	Het
Fam186a	T	C	15: 99,843,079 (GRCm39)	Q1055R	probably benign	Het
Fat1	C	T	8: 45,466,127 (GRCm39)	T1462M	possibly damaging	Het
Fat1	A	G	8: 45,491,336 (GRCm39)	N3822S	probably benign	Het
Gm973	A	G	1: 59,675,317 (GRCm39)	T225A		Het
Gnl2	A	G	4: 124,941,357 (GRCm39)	Y367C	probably damaging	Het
Golga5	T	A	12: 102,458,476 (GRCm39)	S640T	probably benign	Het
Inafm1	A	G	7: 16,007,196 (GRCm39)	V7A	unknown	Het
Irx2	A	G	13: 72,777,392 (GRCm39)	D71G	possibly damaging	Het
Kash5	G	A	7: 44,854,058 (GRCm39)	R24C	unknown	Het
Kif13a	T	C	13: 46,966,263 (GRCm39)	Y448C	probably damaging	Het
Lcor	G	T	19: 41,574,839 (GRCm39)	R1198L	probably damaging	Het
Ldlrad4	A	T	18: 68,197,746 (GRCm39)	N10I	probably benign	Het
Lix1	T	C	17: 17,677,392 (GRCm39)	Y196H	possibly damaging	Het
Lrrc37	A	C	11: 103,509,830 (GRCm39)	S713A	unknown	Het
Mon1a	A	G	9: 107,779,835 (GRCm39)	Y468C	probably damaging	Het
Mroh4	A	T	15: 74,498,140 (GRCm39)	I177N	probably damaging	Het
Mterf4	A	T	1: 93,229,515 (GRCm39)	Y236*	probably null	Het
Myo1f	T	A	17: 33,813,036 (GRCm39)	I614N	probably damaging	Het
Nbas	T	A	12: 13,385,856 (GRCm39)	S707T	possibly damaging	Het
Ncl	A	T	1: 86,279,183 (GRCm39)	S577T	possibly damaging	Het
Or10al4	T	A	17: 38,037,060 (GRCm39)	N48K	probably damaging	Het
Or52d13	T	C	7: 103,109,896 (GRCm39)	D173G		Het
Or6c2b	A	T	10: 128,947,892 (GRCm39)	M134K	probably damaging	Het
Or6c69c	A	T	10: 129,910,941 (GRCm39)	M221L	probably benign	Het
Or6c69c	G	C	10: 129,910,969 (GRCm39)	S230T	probably benign	Het
Or7g17	A	T	9: 18,768,550 (GRCm39)	I201F	probably benign	Het
Or8g17	A	G	9: 38,930,016 (GRCm39)	S274P	probably damaging	Het
Padi1	C	A	4: 140,559,602 (GRCm39)		probably null	Het
Patj	G	A	4: 98,401,871 (GRCm39)	V1004M	probably benign	Het
Pcdhb9	A	T	18: 37,535,770 (GRCm39)	D588V	probably damaging	Het
Pdzph1	C	A	17: 59,261,395 (GRCm39)	R879L	possibly damaging	Het
Pla2g2c	G	A	4: 138,463,378 (GRCm39)	V91I	probably benign	Het
Plin4	T	C	17: 56,416,345 (GRCm39)	D53G	possibly damaging	Het
Poll	T	C	19: 45,546,317 (GRCm39)	Q241R	probably benign	Het
Recql5	A	T	11: 115,785,475 (GRCm39)	L674M	possibly damaging	Het
Shroom3	G	A	5: 93,098,533 (GRCm39)	G1338S	probably damaging	Het
Slc38a8	C	T	8: 120,212,780 (GRCm39)	V294I	probably benign	Het
Slc4a1ap	T	C	5: 31,684,457 (GRCm39)	V31A	probably benign	Het
Tln2	G	A	9: 67,269,927 (GRCm39)	P489S	probably damaging	Het
Trappc9	G	A	15: 72,608,626 (GRCm39)	R928*	probably null	Het
Vasn	C	T	16: 4,467,871 (GRCm39)	T606I	probably benign	Het
Xrn2	T	A	2: 146,880,199 (GRCm39)	D507E	probably damaging	Het
Zfp592	T	A	7: 80,674,644 (GRCm39)	M536K	possibly damaging	Het
Zfp932	A	T	5: 110,157,100 (GRCm39)	H266L	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
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
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'- GAATCTGCTGCTTCTGTGGAAC -3'
(R):5'- TACAGCTGGGTTGGTAACG -3'

Sequencing Primer
(F):5'- TGCCTGAAGACTTTGAGTGGAAG -3'
(R):5'- AACGTGCTCTGTGGCTGC -3'

Posted On

2021-12-30