Mutagenetix > Incidental Mutation

Incidental Mutation 'R6577:Uba1y'

523578

Institutional Source

Beutler Lab

Gene Symbol

Uba1y

Ensembl Gene

ENSMUSG00000069053

Gene Name

ubiquitin-activating enzyme, Chr Y

Synonyms

A1s9Y-1, Sby, Ube1y-1, Ube1y1, Ube-2

MMRRC Submission

044701-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.029) question?

Stock #

R6577 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

818612-843684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 825465 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Isoleucine to Valine at position 276 (I276V)

Ref Sequence

ENSEMBL: ENSMUSP00000140543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115894] [ENSMUST00000190013]

AlphaFold

P31254

Predicted Effect

probably benign
Transcript: ENSMUST00000115894
AA Change: I276V

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000111560
Gene: ENSMUSG00000069053
AA Change: I276V

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
Pfam:ThiF	54	448	2.5e-44	PFAM
Pfam:E1_FCCH	226	296	1.1e-34	PFAM
Pfam:E1_4HB	297	365	3.5e-29	PFAM
Pfam:UBA_e1_thiolCys	637	884	9.1e-95	PFAM
low complexity region	890	901	N/A	INTRINSIC
UBA_e1_C	922	1053	1.72e-73	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190013
AA Change: I276V

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140543
Gene: ENSMUSG00000069053
AA Change: I276V

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
Pfam:ThiF	70	201	3.2e-18	PFAM
Pfam:ThiF	466	610	2.9e-36	PFAM
Pfam:UBA_e1_thiolCys	612	656	7.7e-25	PFAM
Pfam:UBACT	752	818	6.3e-13	PFAM
Pfam:UBACT	848	916	2.1e-30	PFAM
UBA_e1_C	922	1053	1.72e-73	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 93.1%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Api5	T	C	2: 94,252,726 (GRCm39)	Y348C	probably benign	Het
Ark2n	T	C	18: 77,740,855 (GRCm39)	T285A	probably benign	Het
Arl14	A	G	3: 69,130,405 (GRCm39)	E184G	probably benign	Het
Asap3	T	C	4: 135,965,541 (GRCm39)		probably null	Het
Atp11b	T	A	3: 35,893,311 (GRCm39)	V36E	probably damaging	Het
Atp13a4	C	T	16: 29,298,659 (GRCm39)	S100N	probably benign	Het
Cd27	T	C	6: 125,213,756 (GRCm39)	T34A	probably benign	Het
Clec10a	T	C	11: 70,061,436 (GRCm39)	S274P	probably benign	Het
Cntnap2	C	T	6: 46,147,206 (GRCm39)	T484I	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Cracd	A	T	5: 77,013,947 (GRCm39)		probably benign	Het
Def8	T	C	8: 124,183,449 (GRCm39)	S304P	probably benign	Het
Dgkd	G	A	1: 87,867,962 (GRCm39)	V299M	probably damaging	Het
Ephb2	T	C	4: 136,384,861 (GRCm39)	D850G	probably damaging	Het
Gjd3	T	C	11: 102,691,130 (GRCm39)	N291S	possibly damaging	Het
Hc	T	C	2: 34,922,138 (GRCm39)	I563V	probably benign	Het
Hells	C	T	19: 38,919,909 (GRCm39)	Q20*	probably null	Het
Hid1	G	C	11: 115,245,462 (GRCm39)	P448A	possibly damaging	Het
Igkv8-24	C	T	6: 70,193,947 (GRCm39)	R87H	possibly damaging	Het
Irf6	A	G	1: 192,851,662 (GRCm39)	S418G	probably damaging	Het
Kcnv2	T	A	19: 27,301,420 (GRCm39)	C424S	possibly damaging	Het
Lmln	T	A	16: 32,927,370 (GRCm39)		probably null	Het
Myo1a	A	T	10: 127,551,189 (GRCm39)	I678F	possibly damaging	Het
Nup98	A	C	7: 101,778,053 (GRCm39)		probably null	Het
Papolg	GGACTTGGGATACTTACGCTTTG	GG	11: 23,829,857 (GRCm39)		probably benign	Het
Ppfibp1	T	A	6: 146,901,153 (GRCm39)		probably null	Het
Sardh	T	C	2: 27,108,867 (GRCm39)	T623A	possibly damaging	Het
Scml4	A	G	10: 42,823,107 (GRCm39)	N251D	probably damaging	Het
Skap1	T	C	11: 96,416,870 (GRCm39)	Y52H	probably damaging	Het
Srp68	G	A	11: 116,156,290 (GRCm39)	R113W	probably damaging	Het
Srsf12	T	C	4: 33,209,196 (GRCm39)		probably benign	Het
Stat5b	A	G	11: 100,688,526 (GRCm39)	M312T	probably benign	Het
Tma7	T	C	9: 108,911,262 (GRCm39)		probably benign	Het
Tmem120b	T	G	5: 123,254,710 (GRCm39)	F304V	probably damaging	Het
Tns3	G	A	11: 8,499,057 (GRCm39)	L9F	probably damaging	Het
Tns3	G	T	11: 8,499,058 (GRCm39)	D8E	probably damaging	Het
Tsc2	C	T	17: 24,829,473 (GRCm39)	A765T	probably damaging	Het
Tut7	C	T	13: 59,955,975 (GRCm39)	C45Y	probably damaging	Het
Upb1	T	G	10: 75,248,723 (GRCm39)	L81R	probably damaging	Het
Uros	C	A	7: 133,302,569 (GRCm39)	C73F	probably damaging	Het
Zfp820	T	C	17: 22,038,384 (GRCm39)	I315V	probably benign	Het

Other mutations in Uba1y

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02852:Uba1y	APN	Y	828,841 (GRCm39)	nonsense	probably null
R0532:Uba1y	UTSW	Y	820,911 (GRCm39)	missense	probably benign	0.28
R1532:Uba1y	UTSW	Y	828,862 (GRCm39)	missense	probably benign	0.44
R1590:Uba1y	UTSW	Y	826,893 (GRCm39)	missense	probably damaging	1.00
R4668:Uba1y	UTSW	Y	826,032 (GRCm39)	missense	possibly damaging	0.95
R4801:Uba1y	UTSW	Y	825,890 (GRCm39)	splice site	probably null
R4802:Uba1y	UTSW	Y	825,890 (GRCm39)	splice site	probably null
R5101:Uba1y	UTSW	Y	821,447 (GRCm39)	splice site	probably null
R6151:Uba1y	UTSW	Y	825,984 (GRCm39)	missense	probably benign	0.01
R6901:Uba1y	UTSW	Y	825,496 (GRCm39)	missense	probably benign	0.03
R7186:Uba1y	UTSW	Y	825,537 (GRCm39)	missense	probably benign
R7263:Uba1y	UTSW	Y	822,200 (GRCm39)	missense	possibly damaging	0.85
R7305:Uba1y	UTSW	Y	821,348 (GRCm39)	missense	probably damaging	1.00
R7519:Uba1y	UTSW	Y	821,567 (GRCm39)	missense	probably benign	0.44
R7873:Uba1y	UTSW	Y	825,542 (GRCm39)	missense	probably benign
R7917:Uba1y	UTSW	Y	821,274 (GRCm39)	missense	probably benign	0.09
R8159:Uba1y	UTSW	Y	828,806 (GRCm39)	missense	possibly damaging	0.53
R8810:Uba1y	UTSW	Y	828,818 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TACCACCCAGAGTCTGAAACTG -3'
(R):5'- TAATGGAGCATCGCGAGACC -3'

Sequencing Primer
(F):5'- GGCTAGCTTTGAACTCTGAATC -3'
(R):5'- GCATCGCGAGACCAGATATG -3'

Posted On

2018-06-22