Mutagenetix > Incidental Mutation

Incidental Mutation 'R2962:Ube3c'

255920

Institutional Source

Beutler Lab

Gene Symbol

Ube3c

Ensembl Gene

ENSMUSG00000039000

Gene Name

ubiquitin protein ligase E3C

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2962 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29774240-29881075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29863416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 897 (A897D)

Ref Sequence

ENSEMBL: ENSMUSP00000045998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049453]

AlphaFold

Q80U95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049453
AA Change: A897D

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045998
Gene: ENSMUSG00000039000
AA Change: A897D

Domain	Start	End	E-Value	Type
IQ	44	66	1.68e-3	SMART
low complexity region	363	376	N/A	INTRINSIC
low complexity region	496	514	N/A	INTRINSIC
Blast:HECTc	645	701	5e-25	BLAST
HECTc	742	1083	8.54e-178	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd24a	A	G	10: 43,455,313 (GRCm39)	T22A	probably benign	Het
Cdk5rap2	ATGTG	ATG	4: 70,208,214 (GRCm39)		probably null	Het
Cog3	A	G	14: 75,977,974 (GRCm39)		probably null	Het
Gm3371	A	T	14: 44,646,155 (GRCm39)	N103K	probably benign	Het
Gpd2	C	T	2: 57,228,987 (GRCm39)	R264*	probably null	Het
Hoxc10	A	G	15: 102,875,735 (GRCm39)	Y148C	probably damaging	Het
Jade1	C	G	3: 41,567,762 (GRCm39)	T610S	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lhfpl7	T	C	5: 113,385,922 (GRCm39)	V123A	possibly damaging	Het
Malt1	A	G	18: 65,581,406 (GRCm39)	H278R	probably benign	Het
Mlxip	C	A	5: 123,578,887 (GRCm39)	R178S	probably damaging	Het
Or13a25	A	T	7: 140,247,862 (GRCm39)	M214L	probably benign	Het
Pdxk	A	G	10: 78,279,667 (GRCm39)	L236P	probably damaging	Het
Plekhg3	G	A	12: 76,619,433 (GRCm39)		probably null	Het
Rufy2	G	T	10: 62,836,039 (GRCm39)	V323F	probably damaging	Het
Serpinb7	A	G	1: 107,379,456 (GRCm39)	T288A	probably benign	Het
Tet1	A	T	10: 62,650,323 (GRCm39)	C1628*	probably null	Het
Tgtp2	A	G	11: 48,950,363 (GRCm39)	S70P	probably damaging	Het
Trank1	C	T	9: 111,181,148 (GRCm39)	T390I	probably damaging	Het
Trim31	T	C	17: 37,210,796 (GRCm39)	S143P	probably damaging	Het
Unc79	A	T	12: 103,061,378 (GRCm39)	T1050S	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	Het

Other mutations in Ube3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Ube3c	APN	5	29,824,227 (GRCm39)	missense	probably damaging	1.00
IGL01526:Ube3c	APN	5	29,872,960 (GRCm39)	missense	probably damaging	0.99
IGL01901:Ube3c	APN	5	29,873,005 (GRCm39)	missense	probably damaging	1.00
IGL02029:Ube3c	APN	5	29,824,326 (GRCm39)	missense	probably damaging	1.00
IGL02893:Ube3c	APN	5	29,837,761 (GRCm39)	missense	probably damaging	1.00
IGL03400:Ube3c	APN	5	29,806,345 (GRCm39)	missense	probably benign	0.00
conclusory	UTSW	5	29,840,709 (GRCm39)	missense	probably damaging	1.00
Lord_business	UTSW	5	29,842,584 (GRCm39)	splice site	probably benign
opine	UTSW	5	29,803,846 (GRCm39)	splice site	probably benign
two_cents	UTSW	5	29,842,769 (GRCm39)	critical splice donor site	probably null
BB002:Ube3c	UTSW	5	29,851,429 (GRCm39)	missense	probably damaging	0.96
BB012:Ube3c	UTSW	5	29,851,429 (GRCm39)	missense	probably damaging	0.96
R0067:Ube3c	UTSW	5	29,803,936 (GRCm39)	missense	possibly damaging	0.94
R0067:Ube3c	UTSW	5	29,803,936 (GRCm39)	missense	possibly damaging	0.94
R0099:Ube3c	UTSW	5	29,812,062 (GRCm39)	missense	probably damaging	1.00
R0606:Ube3c	UTSW	5	29,795,926 (GRCm39)	missense	probably damaging	1.00
R0755:Ube3c	UTSW	5	29,842,740 (GRCm39)	missense	probably damaging	1.00
R0900:Ube3c	UTSW	5	29,806,344 (GRCm39)	missense	probably benign	0.00
R1624:Ube3c	UTSW	5	29,851,617 (GRCm39)	missense	probably benign	0.00
R1701:Ube3c	UTSW	5	29,806,200 (GRCm39)	missense	probably benign
R1918:Ube3c	UTSW	5	29,792,315 (GRCm39)	missense	probably damaging	1.00
R1933:Ube3c	UTSW	5	29,824,657 (GRCm39)	missense	probably damaging	0.97
R2072:Ube3c	UTSW	5	29,840,638 (GRCm39)	missense	probably benign	0.02
R2095:Ube3c	UTSW	5	29,873,038 (GRCm39)	missense	probably damaging	1.00
R2122:Ube3c	UTSW	5	29,824,604 (GRCm39)	missense	probably benign	0.14
R3605:Ube3c	UTSW	5	29,803,936 (GRCm39)	missense	possibly damaging	0.94
R3606:Ube3c	UTSW	5	29,803,936 (GRCm39)	missense	possibly damaging	0.94
R3764:Ube3c	UTSW	5	29,842,584 (GRCm39)	splice site	probably benign
R3940:Ube3c	UTSW	5	29,824,358 (GRCm39)	missense	probably benign	0.31
R4776:Ube3c	UTSW	5	29,837,836 (GRCm39)	critical splice donor site	probably null
R4794:Ube3c	UTSW	5	29,802,083 (GRCm39)	missense	probably benign	0.06
R4924:Ube3c	UTSW	5	29,836,269 (GRCm39)	missense	possibly damaging	0.56
R5059:Ube3c	UTSW	5	29,836,293 (GRCm39)	missense	probably null	0.11
R5068:Ube3c	UTSW	5	29,806,352 (GRCm39)	critical splice donor site	probably null
R5140:Ube3c	UTSW	5	29,840,709 (GRCm39)	missense	probably damaging	1.00
R5849:Ube3c	UTSW	5	29,863,407 (GRCm39)	missense	probably damaging	1.00
R5890:Ube3c	UTSW	5	29,863,290 (GRCm39)	missense	possibly damaging	0.77
R5956:Ube3c	UTSW	5	29,804,054 (GRCm39)	intron	probably benign
R6035:Ube3c	UTSW	5	29,806,161 (GRCm39)	missense	probably benign	0.00
R6035:Ube3c	UTSW	5	29,806,161 (GRCm39)	missense	probably benign	0.00
R6264:Ube3c	UTSW	5	29,795,829 (GRCm39)	missense	probably damaging	1.00
R6354:Ube3c	UTSW	5	29,868,581 (GRCm39)	missense	probably damaging	0.99
R6658:Ube3c	UTSW	5	29,807,215 (GRCm39)	missense	probably damaging	1.00
R6877:Ube3c	UTSW	5	29,792,316 (GRCm39)	missense	probably benign	0.22
R7660:Ube3c	UTSW	5	29,824,629 (GRCm39)	missense	probably damaging	0.98
R7925:Ube3c	UTSW	5	29,851,429 (GRCm39)	missense	probably damaging	0.96
R8153:Ube3c	UTSW	5	29,811,929 (GRCm39)	missense	possibly damaging	0.88
R8334:Ube3c	UTSW	5	29,795,882 (GRCm39)	missense	probably benign	0.00
R8774:Ube3c	UTSW	5	29,812,029 (GRCm39)	missense	probably benign	0.09
R8774-TAIL:Ube3c	UTSW	5	29,812,029 (GRCm39)	missense	probably benign	0.09
R8941:Ube3c	UTSW	5	29,842,769 (GRCm39)	critical splice donor site	probably null
R9293:Ube3c	UTSW	5	29,803,846 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- AACATGTTGGTGGAGCTACC -3'
(R):5'- TAGCTTCAGCACAACCAGGG -3'

Sequencing Primer
(F):5'- TGGAGCTACCCTTTGCTGGC -3'
(R):5'- TTCAGCACAACCAGGGATACAATTC -3'

Posted On

2014-12-29