Mutagenetix > Incidental Mutation

Incidental Mutation 'R8774:Ube3c'

664594

Institutional Source

Beutler Lab

Gene Symbol

Ube3c

Ensembl Gene

ENSMUSG00000039000

Gene Name

ubiquitin protein ligase E3C

Synonyms

MMRRC Submission

068628-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29774240-29881075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29812029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 423 (T423I)

Ref Sequence

ENSEMBL: ENSMUSP00000045998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049453] [ENSMUST00000199032]

AlphaFold

Q80U95

Predicted Effect

probably benign
Transcript: ENSMUST00000049453
AA Change: T423I

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000045998
Gene: ENSMUSG00000039000
AA Change: T423I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199032
AA Change: T423I

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142474
Gene: ENSMUSG00000039000
AA Change: T423I

Domain	Start	End	E-Value	Type
IQ	44	66	8e-6	SMART
low complexity region	363	376	N/A	INTRINSIC
low complexity region	496	514	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,090,358 (GRCm39)	S364P	possibly damaging	Het
Abcc2	T	A	19: 43,787,577 (GRCm39)	Y208N	probably damaging	Het
Acy1	A	T	9: 106,313,913 (GRCm39)	D82E	probably damaging	Het
Ankub1	A	G	3: 57,597,802 (GRCm39)	L56P	probably damaging	Het
Aoc1	T	A	6: 48,885,529 (GRCm39)	F678Y	probably damaging	Het
Asxl3	C	A	18: 22,657,101 (GRCm39)	Q1704K	probably damaging	Het
Atg9b	T	C	5: 24,595,571 (GRCm39)	D236G	probably damaging	Het
Auh	A	T	13: 52,993,631 (GRCm39)	M261K	probably benign	Het
C2cd6	A	T	1: 59,099,825 (GRCm39)	M372K	possibly damaging	Het
Ccdc88b	A	T	19: 6,825,090 (GRCm39)	N1287K	probably damaging	Het
Cebpz	A	G	17: 79,229,073 (GRCm39)	S958P	probably benign	Het
Cgn	T	A	3: 94,680,810 (GRCm39)	Q576L	probably damaging	Het
Chd7	T	A	4: 8,854,692 (GRCm39)	M2011K	probably damaging	Het
Cntnap4	A	G	8: 113,529,820 (GRCm39)	E676G	probably benign	Het
Cspp1	A	T	1: 10,183,139 (GRCm39)	E781D	possibly damaging	Het
Cyb5d2	A	C	11: 72,679,901 (GRCm39)		probably null	Het
Epn3	G	T	11: 94,383,220 (GRCm39)	P335T	possibly damaging	Het
Far2	T	A	6: 148,047,629 (GRCm39)	S103T	probably benign	Het
Fhip1a	G	C	3: 85,580,097 (GRCm39)	Q703E	probably benign	Het
Fhl2	A	G	1: 43,162,751 (GRCm39)	S255P	probably damaging	Het
Fmnl2	T	A	2: 52,932,321 (GRCm39)	V100D		Het
Gabbr1	T	C	17: 37,382,749 (GRCm39)	L814P	probably damaging	Het
Gzmg	C	T	14: 56,394,193 (GRCm39)	V234I	probably benign	Het
Ift172	A	G	5: 31,415,207 (GRCm39)	V1334A	probably benign	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Klrg1	T	C	6: 122,255,193 (GRCm39)	T80A	probably benign	Het
Lrp4	A	G	2: 91,308,043 (GRCm39)	N496S	probably benign	Het
Lsmem1	G	T	12: 40,227,145 (GRCm39)	N113K	probably damaging	Het
Map3k2	G	A	18: 32,345,117 (GRCm39)	S314N	probably damaging	Het
Mtpap	C	T	18: 4,387,032 (GRCm39)	R361*	probably null	Het
Muc5b	T	A	7: 141,418,831 (GRCm39)	S3926T	probably benign	Het
Nat10	C	A	2: 103,561,752 (GRCm39)	R643L	probably damaging	Het
Ncbp3	T	C	11: 72,938,808 (GRCm39)	V28A	probably benign	Het
Nlrp9a	T	C	7: 26,257,984 (GRCm39)	L534P	possibly damaging	Het
Nmi	T	C	2: 51,848,974 (GRCm39)	K39E	probably benign	Het
Nxpe4	A	G	9: 48,304,692 (GRCm39)	N260D	probably benign	Het
Or4k38	T	C	2: 111,166,318 (GRCm39)	Y35C	probably damaging	Het
Or51aa2	C	A	7: 103,187,965 (GRCm39)	V159L	probably benign	Het
Or6c213	T	A	10: 129,573,926 (GRCm39)	I287F	probably damaging	Het
Or8c19-ps1	G	A	9: 38,220,600 (GRCm39)	A170T	unknown	Het
Phf2	G	T	13: 48,971,878 (GRCm39)		probably benign	Het
Pirb	G	T	7: 3,720,728 (GRCm39)	L257M	probably damaging	Het
Plcg2	A	T	8: 118,306,585 (GRCm39)	D313V	possibly damaging	Het
Ppard	G	A	17: 28,517,864 (GRCm39)	V311I	possibly damaging	Het
Ptcd1	A	T	5: 145,092,175 (GRCm39)	M308K	probably damaging	Het
Pygo1	A	G	9: 72,852,436 (GRCm39)	N208D	possibly damaging	Het
Robo1	T	G	16: 72,832,719 (GRCm39)	D1497E	probably benign	Het
Sdk2	T	C	11: 113,730,169 (GRCm39)	D1022G	probably damaging	Het
Shc3	G	A	13: 51,615,475 (GRCm39)	H161Y	probably damaging	Het
Slc15a1	G	T	14: 121,724,423 (GRCm39)	Q150K	probably damaging	Het
Slc6a11	C	A	6: 114,206,995 (GRCm39)		probably benign	Het
Sod1	T	G	16: 90,023,039 (GRCm39)	V120G	probably damaging	Het
Spata31g1	T	C	4: 42,971,087 (GRCm39)	L140P	probably damaging	Het
Sprr2f	T	A	3: 92,273,323 (GRCm39)	C41S	unknown	Het
Svil	A	T	18: 5,049,068 (GRCm39)	Y115F	probably damaging	Het
Tdp1	T	C	12: 99,877,917 (GRCm39)	S400P	probably damaging	Het
Thbs4	A	T	13: 92,898,030 (GRCm39)	D596E	probably damaging	Het
Tshz1	T	A	18: 84,033,101 (GRCm39)	M436L	possibly damaging	Het
Unc93a	A	T	17: 13,341,837 (GRCm39)	I98N	probably damaging	Het
Usp33	T	A	3: 152,085,213 (GRCm39)	Y624*	probably null	Het
Utp20	A	G	10: 88,588,763 (GRCm39)		probably benign	Het
Vmn1r217	T	A	13: 23,298,108 (GRCm39)	M265L	probably benign	Het
Vmn1r222	A	T	13: 23,416,418 (GRCm39)	M265K	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Zfp867	A	G	11: 59,354,837 (GRCm39)	F164S	probably damaging	Het
Zswim1	C	T	2: 164,668,062 (GRCm39)	T438I	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
R2962:Ube3c	UTSW	5	29,863,416 (GRCm39)	missense	possibly damaging	0.81
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-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'- AGTAGCACTTCACTCACTCAG -3'
(R):5'- TCTCACACAGTTCCAGGAAGG -3'

Sequencing Primer
(F):5'- ACTCACTCAGACTCATTTTTCTGTTG -3'
(R):5'- GGTTTGGCAACTCTTAATATCCTG -3'

Posted On

2021-03-08