Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02380:Ube2q2'

291319

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: 0.145) question?

Stock #

IGL02380

Quality Score

Status

Chromosome

Chromosomal Location

55056602-55114813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55070296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 79 (D79E)

Ref Sequence

ENSEMBL: ENSMUSP00000059798 (fasta)

Gene Model

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

AlphaFold

Q8K2Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000059555
AA Change: D79E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000059798
Gene: ENSMUSG00000032307
AA Change: D79E

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
AA Change: D79E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000113336
Gene: ENSMUSG00000032307
AA Change: D79E

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,643,968 (GRCm39)	P546T	possibly damaging	Het
Abca13	T	C	11: 9,241,599 (GRCm39)	I1154T	possibly damaging	Het
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Acsm5	A	T	7: 119,136,509 (GRCm39)	Q360L	probably benign	Het
Adamtsl5	T	C	10: 80,177,612 (GRCm39)	E350G	probably benign	Het
Adgrl2	A	T	3: 148,534,125 (GRCm39)	L1017*	probably null	Het
Aqr	T	C	2: 113,940,417 (GRCm39)	D1243G	probably damaging	Het
Arhgef17	G	T	7: 100,578,650 (GRCm39)	P766Q	possibly damaging	Het
Bclaf1	T	C	10: 20,201,113 (GRCm39)	V413A	possibly damaging	Het
Bcr	A	G	10: 75,011,131 (GRCm39)	D14G	probably benign	Het
Cadps2	C	T	6: 23,287,731 (GRCm39)	V1190I	probably benign	Het
Cdh9	A	G	15: 16,856,086 (GRCm39)	I709V	possibly damaging	Het
Cnbd1	C	A	4: 18,887,748 (GRCm39)		probably null	Het
Cnbd1	T	A	4: 18,887,749 (GRCm39)		probably null	Het
Col4a3	T	C	1: 82,650,509 (GRCm39)		probably benign	Het
Coro1a	T	A	7: 126,302,288 (GRCm39)	K20*	probably null	Het
Crb2	T	A	2: 37,673,447 (GRCm39)	D114E	probably damaging	Het
Dnah6	C	A	6: 73,053,623 (GRCm39)	K2870N	probably benign	Het
Fpr3	A	G	17: 18,191,254 (GRCm39)	H175R	probably benign	Het
Gk5	T	G	9: 96,032,533 (GRCm39)	S248A	possibly damaging	Het
Grm4	T	A	17: 27,653,635 (GRCm39)	I772F	probably damaging	Het
Gstt4	A	G	10: 75,653,073 (GRCm39)	I163T	possibly damaging	Het
Hr	A	G	14: 70,795,201 (GRCm39)	R278G	probably damaging	Het
Igfbp5	T	A	1: 72,903,108 (GRCm39)	R156*	probably null	Het
Ighv1-4	G	A	12: 114,450,753 (GRCm39)		probably benign	Het
Insyn2a	A	T	7: 134,500,873 (GRCm39)		probably null	Het
Kcna2	A	C	3: 107,012,274 (GRCm39)	Q285P	probably benign	Het
Klf5	A	T	14: 99,538,894 (GRCm39)	R102S	possibly damaging	Het
Ldb1	A	T	19: 46,022,929 (GRCm39)	M252K	possibly damaging	Het
Lrrc66	T	C	5: 73,787,009 (GRCm39)	I114V	possibly damaging	Het
Map1b	A	T	13: 99,567,651 (GRCm39)	I1690N	unknown	Het
Myo1a	A	G	10: 127,550,354 (GRCm39)	T565A	probably benign	Het
Nt5c	T	C	11: 115,382,127 (GRCm39)	D84G	possibly damaging	Het
Pde1b	A	G	15: 103,428,417 (GRCm39)	N51S	possibly damaging	Het
Pikfyve	T	A	1: 65,295,180 (GRCm39)	L1437Q	probably damaging	Het
Pld5	C	T	1: 175,967,610 (GRCm39)	V82I	probably damaging	Het
Psmb6	T	A	11: 70,416,737 (GRCm39)	N42K	probably benign	Het
Slco3a1	G	A	7: 74,204,238 (GRCm39)	S34F	probably damaging	Het
Slfn9	A	G	11: 82,872,046 (GRCm39)	Y897H	probably benign	Het
Spag6l	T	C	16: 16,581,033 (GRCm39)		probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tmem215	A	T	4: 40,474,534 (GRCm39)	I204F	probably benign	Het
Txnl1	A	G	18: 63,807,114 (GRCm39)		probably null	Het
Ugt2a3	T	C	5: 87,484,658 (GRCm39)	D122G	probably benign	Het
Vmn2r73	A	T	7: 85,507,383 (GRCm39)	I643K	probably benign	Het
Xkrx	T	A	X: 133,051,388 (GRCm39)	H421L	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
IGL02523:Ube2q2	APN	9	55,099,163 (GRCm39)	missense	probably damaging	0.99
IGL03121:Ube2q2	APN	9	55,102,323 (GRCm39)	splice site	probably benign
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

2015-04-16