Mutagenetix > Incidental Mutation

Incidental Mutation 'R5101:Uba1y'

392388

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

042852-MU

Accession Numbers

Essential gene?

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

Stock #

R5101 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

818612-843684 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 821447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140543 (fasta)

Gene Model

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

AlphaFold

P31254

Predicted Effect

probably null
Transcript: ENSMUST00000115894

SMART Domains

Protein: ENSMUSP00000111560
Gene: ENSMUSG00000069053

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 null
Transcript: ENSMUST00000115894

SMART Domains

Protein: ENSMUSP00000111560
Gene: ENSMUSG00000069053

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 null
Transcript: ENSMUST00000115894

SMART Domains

Protein: ENSMUSP00000111560
Gene: ENSMUSG00000069053

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 null
Transcript: ENSMUST00000190013

SMART Domains

Protein: ENSMUSP00000140543
Gene: ENSMUSG00000069053

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

Predicted Effect

probably null
Transcript: ENSMUST00000190013

SMART Domains

Protein: ENSMUSP00000140543
Gene: ENSMUSG00000069053

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

Predicted Effect

probably null
Transcript: ENSMUST00000190013

SMART Domains

Protein: ENSMUSP00000140543
Gene: ENSMUSG00000069053

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	T	C	12: 21,423,406 (GRCm39)	T10A	possibly damaging	Het
Adgrg3	T	C	8: 95,763,563 (GRCm39)	F288S	probably benign	Het
Ago2	A	G	15: 72,991,339 (GRCm39)	V533A	probably damaging	Het
Akap9	T	G	5: 4,051,748 (GRCm39)	V1505G	probably damaging	Het
Apob	T	C	12: 8,061,934 (GRCm39)	I3439T	probably benign	Het
C1qtnf7	T	A	5: 43,773,314 (GRCm39)	Y204*	probably null	Het
Cdc42bpb	T	C	12: 111,265,549 (GRCm39)	E1461G	probably damaging	Het
Cdh3	C	T	8: 107,268,024 (GRCm39)	A353V	possibly damaging	Het
Clec4d	A	G	6: 123,244,071 (GRCm39)	Y60C	probably damaging	Het
Cmya5	T	A	13: 93,228,111 (GRCm39)	T2326S	possibly damaging	Het
Cnot1	G	A	8: 96,486,815 (GRCm39)	L631F	possibly damaging	Het
Cntnap5a	C	T	1: 116,370,026 (GRCm39)	T881I	probably benign	Het
Col6a1	T	A	10: 76,545,740 (GRCm39)	T911S	unknown	Het
Ctsw	A	G	19: 5,515,703 (GRCm39)	V287A	probably benign	Het
Cyp2c23	T	C	19: 44,017,622 (GRCm39)	E2G	unknown	Het
Cytip	A	T	2: 58,037,911 (GRCm39)	I151N	probably damaging	Het
Dnah10	A	G	5: 124,909,577 (GRCm39)	T4399A	possibly damaging	Het
Dock3	A	T	9: 106,846,980 (GRCm39)	I883N	probably damaging	Het
Entpd3	A	G	9: 120,395,608 (GRCm39)	*530W	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gp1ba	G	A	11: 70,532,225 (GRCm39)	V664M	probably benign	Het
Gpd2	T	A	2: 57,245,913 (GRCm39)	I481N	probably damaging	Het
Gvin-ps5	T	C	7: 105,929,096 (GRCm39)		noncoding transcript	Het
Ildr2	A	G	1: 166,135,331 (GRCm39)	D342G	probably damaging	Het
Krt87	A	G	15: 101,385,391 (GRCm39)	I327T	probably benign	Het
Lats1	T	A	10: 7,588,348 (GRCm39)	C988*	probably null	Het
Lpin2	G	A	17: 71,550,965 (GRCm39)	W708*	probably null	Het
Mast4	T	C	13: 102,872,864 (GRCm39)	D2168G	probably benign	Het
Myo6	G	T	9: 80,177,321 (GRCm39)	E606*	probably null	Het
Nek7	A	G	1: 138,443,431 (GRCm39)	V174A	probably benign	Het
Nid1	T	A	13: 13,658,339 (GRCm39)	C695S	probably damaging	Het
Nme8	A	G	13: 19,875,017 (GRCm39)		probably null	Het
Nr2c2	T	C	6: 92,131,497 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2ag18	A	T	7: 106,405,420 (GRCm39)	I83K	possibly damaging	Het
Or4x11	A	G	2: 89,867,391 (GRCm39)	M43V	probably benign	Het
Or51ab3	G	A	7: 103,201,150 (GRCm39)	E53K	probably damaging	Het
Or9g19	A	G	2: 85,600,268 (GRCm39)	N41S	probably damaging	Het
Pms2	A	G	5: 143,865,006 (GRCm39)	D696G	probably damaging	Het
Psapl1	T	A	5: 36,361,494 (GRCm39)	C29S	probably damaging	Het
Scn3a	A	T	2: 65,291,850 (GRCm39)	V1632D	probably damaging	Het
Slc22a1	C	T	17: 12,886,129 (GRCm39)	G168D	probably damaging	Het
Smad4	A	G	18: 73,808,931 (GRCm39)	V112A	probably benign	Het
Smc4	T	C	3: 68,935,845 (GRCm39)	V796A	probably benign	Het
Smco4	A	G	9: 15,455,968 (GRCm39)	E18G	unknown	Het
Spata31e2	T	C	1: 26,722,417 (GRCm39)	E921G	possibly damaging	Het
Sugp2	A	G	8: 70,713,139 (GRCm39)	E1035G	probably damaging	Het
Syde2	T	C	3: 145,721,393 (GRCm39)	S820P	probably damaging	Het
Syn2	T	C	6: 115,240,860 (GRCm39)	L410P	probably damaging	Het
Tmem131l	T	C	3: 83,844,811 (GRCm39)	N466S	probably damaging	Het
Unc79	T	C	12: 103,078,769 (GRCm39)	S1645P	probably damaging	Het
Vmn2r17	A	T	5: 109,576,217 (GRCm39)	S363C	probably damaging	Het
Vmn2r78	T	C	7: 86,571,563 (GRCm39)	Y458H	probably damaging	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
R6151:Uba1y	UTSW	Y	825,984 (GRCm39)	missense	probably benign	0.01
R6577:Uba1y	UTSW	Y	825,465 (GRCm39)	missense	probably benign	0.39
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'- CTGGGTGTGGAAATTGCCAAG -3'
(R):5'- AACCAGATCTGACACAAGGTG -3'

Sequencing Primer
(F):5'- GCCAAGAATATCATCCTTGGTGG -3'
(R):5'- GATCTGACACAAGGTGCCAAC -3'

Posted On

2016-06-15