Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03121:Ube2q2'

409990

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube2q2

Ensembl Gene

ENSMUSG00000032307

Gene Name

ubiquitin-conjugating enzyme E2Q family member 2

Synonyms

3010021M21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL03121

Quality Score

Status

Chromosome

Chromosomal Location

55056602-55114813 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 55102323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059555] [ENSMUST00000121677] [ENSMUST00000122441]

AlphaFold

Q8K2Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000059555

SMART Domains

Protein: ENSMUSP00000059798
Gene: ENSMUSG00000032307

Domain	Start	End	E-Value	Type
RWD	8	127	4.77e-1	SMART
low complexity region	138	155	N/A	INTRINSIC
Blast:UBCc	156	199	1e-19	BLAST
UBCc	210	371	5.51e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121677

SMART Domains

Protein: ENSMUSP00000113336
Gene: ENSMUSG00000032307

Domain	Start	End	E-Value	Type
Pfam:RWD	1	122	3e-7	PFAM
UBCc	175	336	5.51e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122441

SMART Domains

Protein: ENSMUSP00000112745
Gene: ENSMUSG00000032307

Domain	Start	End	E-Value	Type
low complexity region	15	32	N/A	INTRINSIC
Blast:UBCc	33	76	2e-20	BLAST
UBCc	87	248	5.51e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148468

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B09Rik	A	G	9: 14,672,946 (GRCm39)	S4P	possibly damaging	Het
A2m	A	G	6: 121,618,265 (GRCm39)	N186S	probably benign	Het
Afg2a	T	C	3: 37,518,800 (GRCm39)	I778T	probably damaging	Het
Ago1	T	C	4: 126,353,796 (GRCm39)	K261R	probably benign	Het
Alas1	G	A	9: 106,124,113 (GRCm39)	P15L	probably damaging	Het
Aox1	G	A	1: 58,398,113 (GRCm39)	V1285M	probably damaging	Het
Brd8	A	T	18: 34,739,740 (GRCm39)	F678I	probably damaging	Het
Col27a1	T	A	4: 63,143,446 (GRCm39)	M378K	probably benign	Het
Dpy19l4	C	A	4: 11,303,334 (GRCm39)	V196F	probably damaging	Het
Dst	G	T	1: 34,256,884 (GRCm39)		probably benign	Het
Hsd17b1	T	A	11: 100,970,870 (GRCm39)	Y275*	probably null	Het
Kdm3b	A	G	18: 34,928,762 (GRCm39)	E171G	probably damaging	Het
Klc1	T	C	12: 111,748,076 (GRCm39)		probably benign	Het
Mlkl	G	A	8: 112,041,612 (GRCm39)	R443W	probably damaging	Het
Mov10	A	T	3: 104,708,318 (GRCm39)	V477E	probably benign	Het
Nacad	A	G	11: 6,550,933 (GRCm39)	S753P	probably damaging	Het
Ncapd2	A	C	6: 125,150,575 (GRCm39)	M842R	probably benign	Het
Nkd2	C	A	13: 73,969,498 (GRCm39)	A311S	probably benign	Het
Nrg1	A	G	8: 32,314,608 (GRCm39)		probably benign	Het
Or4f6	A	G	2: 111,838,953 (GRCm39)	Y193H	probably benign	Het
Or6c68	A	G	10: 129,158,037 (GRCm39)	I182V	probably benign	Het
Pde6h	A	G	6: 136,936,280 (GRCm39)	S8G	probably null	Het
Pik3c2b	A	G	1: 133,007,483 (GRCm39)	K616E	probably benign	Het
Pnpt1	A	T	11: 29,082,845 (GRCm39)	R54S	probably benign	Het
Pramel38	T	C	5: 94,368,912 (GRCm39)	V469A	possibly damaging	Het
Rttn	A	G	18: 88,993,875 (GRCm39)	D184G	probably damaging	Het
Skint5	T	A	4: 113,574,284 (GRCm39)	I756F	unknown	Het
Slc24a2	T	C	4: 87,145,143 (GRCm39)	T304A	probably benign	Het
Stk3	A	T	15: 35,099,572 (GRCm39)		probably benign	Het
Trim69	A	G	2: 121,998,128 (GRCm39)	I33M	probably benign	Het
Vmn1r67	T	A	7: 10,181,394 (GRCm39)	N158K	probably benign	Het
Wipi2	G	A	5: 142,648,857 (GRCm39)	E252K	probably benign	Het

Other mutations in Ube2q2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02037:Ube2q2	APN	9	55,075,502 (GRCm39)	missense	probably damaging	0.98
IGL02380:Ube2q2	APN	9	55,070,296 (GRCm39)	missense	probably benign	0.01
IGL02523:Ube2q2	APN	9	55,099,163 (GRCm39)	missense	probably damaging	0.99
R0239:Ube2q2	UTSW	9	55,070,291 (GRCm39)	missense	probably damaging	0.99
R0239:Ube2q2	UTSW	9	55,070,291 (GRCm39)	missense	probably damaging	0.99
R1180:Ube2q2	UTSW	9	55,102,700 (GRCm39)	splice site	probably benign
R2185:Ube2q2	UTSW	9	55,102,366 (GRCm39)	splice site	probably null
R2570:Ube2q2	UTSW	9	55,099,140 (GRCm39)	missense	probably benign	0.44
R4513:Ube2q2	UTSW	9	55,057,084 (GRCm39)	missense	probably benign	0.38
R5099:Ube2q2	UTSW	9	55,113,307 (GRCm39)	unclassified	probably benign
R5541:Ube2q2	UTSW	9	55,099,163 (GRCm39)	missense	possibly damaging	0.68
R6189:Ube2q2	UTSW	9	55,070,267 (GRCm39)	missense	probably benign	0.00
R7382:Ube2q2	UTSW	9	55,070,298 (GRCm39)	missense	probably damaging	1.00
R8427:Ube2q2	UTSW	9	55,092,250 (GRCm39)	critical splice donor site	probably null
R8782:Ube2q2	UTSW	9	55,070,354 (GRCm39)	critical splice donor site	probably null
R8844:Ube2q2	UTSW	9	55,102,757 (GRCm39)	missense
Z1176:Ube2q2	UTSW	9	55,087,858 (GRCm39)	missense	possibly damaging	0.95

Posted On

2016-08-02