Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Uba7'

32649

Institutional Source

Beutler Lab

Gene Symbol

Uba7

Ensembl Gene

ENSMUSG00000032596

Gene Name

ubiquitin-like modifier activating enzyme 7

Synonyms

Ube1l, 1300004C08Rik

MMRRC Submission

038308-MU

Accession Numbers

Essential gene?

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

Stock #

R0013 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

107852766-107861255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107855448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 375 (Y375F)

Ref Sequence

ENSEMBL: ENSMUSP00000134910 (fasta)

Gene Model

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

AlphaFold

Q9DBK7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035216
AA Change: Y375F

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: Y375F

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 damaging
Transcript: ENSMUST00000177392
AA Change: Y375F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596
AA Change: Y375F

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: ENSMUST00000176743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176478

Predicted Effect

probably benign
Transcript: ENSMUST00000177039

Meta Mutation Damage Score

0.2990

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,293,346 (GRCm39)	M156V	probably benign	Het
Adnp2	A	T	18: 80,172,960 (GRCm39)	V483D	probably damaging	Het
Aff1	G	T	5: 103,976,350 (GRCm39)	E491*	probably null	Het
Agl	A	T	3: 116,570,257 (GRCm39)	C911*	probably null	Het
Akt2	A	G	7: 27,335,483 (GRCm39)	D284G	probably damaging	Het
Alox15	A	G	11: 70,240,461 (GRCm39)	M240T	possibly damaging	Het
Antxr2	A	G	5: 98,127,844 (GRCm39)	V229A	probably damaging	Het
Arap2	G	A	5: 62,840,827 (GRCm39)	L680F	probably damaging	Het
Btaf1	A	G	19: 36,935,773 (GRCm39)	T188A	probably benign	Het
Btnl6	G	A	17: 34,734,505 (GRCm39)	Q86*	probably null	Het
C2cd3	T	A	7: 100,065,269 (GRCm39)	L685H	probably damaging	Het
Cdh23	T	C	10: 60,248,952 (GRCm39)	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,179,108 (GRCm39)	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,405,043 (GRCm39)	T2500S	possibly damaging	Het
Def6	A	G	17: 28,436,066 (GRCm39)	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,884,461 (GRCm39)	F448L	probably damaging	Het
Dner	C	T	1: 84,472,614 (GRCm39)		probably benign	Het
Dnmbp	G	A	19: 43,890,670 (GRCm39)	P366S	probably benign	Het
Eif4g3	T	C	4: 137,903,159 (GRCm39)	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,820,185 (GRCm39)		probably benign	Het
Faah	C	A	4: 115,861,588 (GRCm39)	L305F	probably damaging	Het
Flt1	A	G	5: 147,507,824 (GRCm39)		probably benign	Het
Fyco1	A	T	9: 123,651,471 (GRCm39)	N1196K	probably benign	Het
Galnt18	T	C	7: 111,153,664 (GRCm39)	N320S	probably damaging	Het
Garin3	A	G	11: 46,297,631 (GRCm39)	T312A	unknown	Het
Glp2r	C	A	11: 67,600,538 (GRCm39)	G437V	possibly damaging	Het
Gm4884	T	C	7: 40,693,716 (GRCm39)	S562P	probably damaging	Het
Gm9936	A	G	5: 114,995,408 (GRCm39)		probably benign	Het
Gpn2	C	A	4: 133,312,103 (GRCm39)	P112T	probably damaging	Het
Grm4	A	G	17: 27,650,549 (GRCm39)	Y816H	probably benign	Het
Helz2	A	T	2: 180,882,752 (GRCm39)	S14T	probably benign	Het
Htt	T	C	5: 34,977,448 (GRCm39)	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060 (GRCm39)	S129P	probably damaging	Het
Ints11	T	C	4: 155,971,625 (GRCm39)	F315S	probably damaging	Het
Itga11	A	T	9: 62,683,895 (GRCm39)	N1059Y	possibly damaging	Het
Jak3	A	G	8: 72,136,971 (GRCm39)	S716G	probably damaging	Het
Kcns1	G	T	2: 164,010,563 (GRCm39)	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715 (GRCm39)	K1305N	probably benign	Het
Kif26a	G	T	12: 112,144,314 (GRCm39)	V1523L	probably benign	Het
Mboat7	A	G	7: 3,686,821 (GRCm39)	S340P	probably damaging	Het
Mctp2	T	C	7: 71,879,156 (GRCm39)	I234V	probably benign	Het
Mex3c	G	A	18: 73,723,622 (GRCm39)	A572T	probably benign	Het
Mpp3	C	A	11: 101,896,251 (GRCm39)	R424L	probably benign	Het
Mroh4	T	A	15: 74,480,086 (GRCm39)		probably benign	Het
Myo9a	A	T	9: 59,767,489 (GRCm39)		probably benign	Het
Myog	T	A	1: 134,217,973 (GRCm39)	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,270,650 (GRCm39)		probably null	Het
Notch1	A	G	2: 26,363,830 (GRCm39)	V868A	possibly damaging	Het
Or10g9b	A	T	9: 39,917,651 (GRCm39)	I198N	probably damaging	Het
Or1j20	A	G	2: 36,760,172 (GRCm39)	N198S	probably damaging	Het
Or1p1	T	A	11: 74,179,877 (GRCm39)	I135N	possibly damaging	Het
Or5d18	T	C	2: 87,864,610 (GRCm39)	Y291C	possibly damaging	Het
Pink1	T	C	4: 138,044,712 (GRCm39)	T342A	probably benign	Het
Plb1	T	A	5: 32,506,959 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,062,446 (GRCm39)	D2524G	probably damaging	Het
Plekhg4	G	T	8: 106,102,028 (GRCm39)	E6*	probably null	Het
Polq	T	C	16: 36,882,201 (GRCm39)	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,139,884 (GRCm39)		probably benign	Het
Prkaca	G	A	8: 84,714,932 (GRCm39)	M119I	possibly damaging	Het
Prss46	G	T	9: 110,679,123 (GRCm39)	S108I	probably damaging	Het
Ptma	C	T	1: 86,457,498 (GRCm39)		probably benign	Het
Rab11fip4	C	T	11: 79,580,479 (GRCm39)	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409 (GRCm39)	M437K	probably benign	Het
Rrn3	T	A	16: 13,630,977 (GRCm39)	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,239,231 (GRCm39)		probably benign	Het
Sis	A	G	3: 72,817,809 (GRCm39)	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,598,745 (GRCm39)	M1450V	probably benign	Het
Smg5	T	C	3: 88,256,540 (GRCm39)	S269P	probably benign	Het
Sntg1	T	C	1: 8,533,686 (GRCm39)	T323A	probably damaging	Het
Son	C	T	16: 91,448,550 (GRCm39)	T37I	probably damaging	Het
Stk17b	T	C	1: 53,803,291 (GRCm39)	I41M	probably benign	Het
Tgm5	T	A	2: 120,907,363 (GRCm39)	Y120F	probably damaging	Het
Tppp	A	G	13: 74,169,479 (GRCm39)	K73R	possibly damaging	Het
Ttn	C	A	2: 76,569,502 (GRCm39)	K27130N	probably damaging	Het
Ttn	C	T	2: 76,738,096 (GRCm39)	V4148I	probably benign	Het
Tut4	T	A	4: 108,388,152 (GRCm39)		probably benign	Het
Ugcg	T	C	4: 59,213,931 (GRCm39)	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,453,872 (GRCm39)		probably benign	Het
Zfp839	T	A	12: 110,834,820 (GRCm39)	S692T	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TCAGGAGGTCCTAAAGGTAGGCAC -3'
(R):5'- CACAGCAATTTGCCCATCGTATCG -3'

Sequencing Primer
(F):5'- CAGGTAGTGTGTGTGCCAGAG -3'
(R):5'- CACAGATAATGGCCTGTGCTATG -3'

Posted On

2013-05-09