Mutagenetix > Incidental Mutation

Incidental Mutation 'R4513:Ube2q2'

334519

Institutional Source

Beutler Lab

Gene Symbol

Ube2q2

Ensembl Gene

ENSMUSG00000032307

Gene Name

ubiquitin-conjugating enzyme E2Q family member 2

Synonyms

3010021M21Rik

MMRRC Submission

041759-MU

Accession Numbers

Essential gene?

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

Stock #

R4513 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

55056602-55114813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55057084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 56 (P56T)

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: P56T

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000059798
Gene: ENSMUSG00000032307
AA Change: P56T

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: P56T

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113336
Gene: ENSMUSG00000032307
AA Change: P56T

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

Meta Mutation Damage Score

0.0627

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	A	G	17: 57,717,947 (GRCm39)	I320V	probably benign	Het
Akap6	T	C	12: 52,842,787 (GRCm39)	V45A	probably benign	Het
Ankrd28	A	T	14: 31,465,242 (GRCm39)	S312T	probably damaging	Het
Cenpn	A	G	8: 117,660,135 (GRCm39)	Y68C	probably damaging	Het
Cfap96	G	T	8: 46,421,175 (GRCm39)	T116K	probably damaging	Het
Cntn3	A	T	6: 102,145,943 (GRCm39)	I966N	probably benign	Het
D630003M21Rik	T	C	2: 158,046,722 (GRCm39)	T752A	probably benign	Het
Dmxl2	A	C	9: 54,327,168 (GRCm39)	S952R	probably null	Het
Dop1a	G	A	9: 86,402,612 (GRCm39)	E1271K	probably benign	Het
Fgfr3	A	G	5: 33,880,460 (GRCm39)		probably benign	Het
Gm10110	A	G	14: 90,135,151 (GRCm39)		noncoding transcript	Het
Got1l1	C	T	8: 27,688,513 (GRCm39)	M279I	probably benign	Het
Guf1	T	C	5: 69,719,005 (GRCm39)	V230A	probably benign	Het
Hsd17b14	C	T	7: 45,212,339 (GRCm39)	L124F	probably benign	Het
Id3	G	T	4: 135,871,669 (GRCm39)		probably benign	Het
Itga8	T	C	2: 12,187,547 (GRCm39)	S711G	probably benign	Het
Lgr4	T	C	2: 109,842,361 (GRCm39)	M782T	possibly damaging	Het
Lsm12	T	C	11: 102,057,909 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,580,741 (GRCm39)	D117V	probably damaging	Het
Map3k11	A	G	19: 5,752,238 (GRCm39)	T807A	probably damaging	Het
Mapk14	T	C	17: 28,943,798 (GRCm39)	F129S	probably damaging	Het
Mapkbp1	T	A	2: 119,854,174 (GRCm39)	I1257N	possibly damaging	Het
Mcm3	A	G	1: 20,880,456 (GRCm39)	Y459H	probably damaging	Het
Mkln1	T	C	6: 31,410,093 (GRCm39)		probably benign	Het
Msh5	A	T	17: 35,249,664 (GRCm39)	I627N	possibly damaging	Het
Nfkbiz	T	C	16: 55,637,204 (GRCm39)	H488R	probably benign	Het
Nrg1	G	T	8: 32,967,105 (GRCm39)		probably benign	Het
Or1j19	A	G	2: 36,676,782 (GRCm39)	M82V	probably benign	Het
Or51q1	T	C	7: 103,628,648 (GRCm39)	V89A	probably benign	Het
Or51t4	T	C	7: 102,597,945 (GRCm39)	L81P	probably damaging	Het
Or5b120	A	T	19: 13,479,986 (GRCm39)	Y93F	probably benign	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Plekhg4	T	A	8: 106,107,034 (GRCm39)	C910S	probably damaging	Het
Ppp1r18	A	G	17: 36,179,196 (GRCm39)	E357G	probably damaging	Het
Pramel23	T	C	4: 143,424,718 (GRCm39)	M242V	probably benign	Het
Rbm11	T	C	16: 75,393,475 (GRCm39)	F57S	probably damaging	Het
Sbp	G	A	17: 24,164,286 (GRCm39)	G183D	probably benign	Het
Skint5	A	G	4: 113,599,382 (GRCm39)	V719A	unknown	Het
Slc16a7	T	G	10: 125,069,308 (GRCm39)		probably null	Het
Slc29a1	A	C	17: 45,899,992 (GRCm39)	Y232*	probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
Spanxn4	A	T	12: 62,734,886 (GRCm39)		noncoding transcript	Het
Spata31d1d	T	C	13: 59,876,368 (GRCm39)	Q389R	probably benign	Het
Srgap1	A	G	10: 121,706,231 (GRCm39)		probably null	Het
St6gal2	A	T	17: 55,790,018 (GRCm39)	N351Y	probably benign	Het
Tle2	A	G	10: 81,423,394 (GRCm39)	D491G	probably damaging	Het
Tmem33	T	C	5: 67,443,468 (GRCm39)	V215A	probably benign	Het
Trav6-3	A	G	14: 53,667,548 (GRCm39)	T7A	probably benign	Het
Unc79	T	C	12: 102,988,019 (GRCm39)	V208A	probably damaging	Het
Xkr7	T	C	2: 152,896,553 (GRCm39)	I469T	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGTCGGTTACAAAGGCAGC -3'
(R):5'- TGAGAGCCTTTCCACCTGAG -3'

Sequencing Primer
(F):5'- GCCATTTTCCAGCCGCG -3'
(R):5'- TTTCCACCTGAGCGACTGACAG -3'

Posted On

2015-08-18