Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01526:Ube3c'

89560

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01526

Quality Score

Status

Chromosome

Chromosomal Location

29774240-29881075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29872960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1000 (V1000A)

Ref Sequence

ENSEMBL: ENSMUSP00000045998 (fasta)

Gene Model

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

AlphaFold

Q80U95

Predicted Effect

probably damaging
Transcript: ENSMUST00000049453
AA Change: V1000A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045998
Gene: ENSMUSG00000039000
AA Change: V1000A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	G	T	4: 155,818,628 (GRCm39)		probably benign	Het
4933430I17Rik	G	T	4: 62,450,858 (GRCm39)	R107L	possibly damaging	Het
Acvr1	A	T	2: 58,348,997 (GRCm39)	D388E	probably benign	Het
Art3	T	C	5: 92,562,199 (GRCm39)	S354P	probably damaging	Het
Bpnt1	C	A	1: 185,077,591 (GRCm39)	S102*	probably null	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Cfap65	A	T	1: 74,950,237 (GRCm39)	S1171T	probably damaging	Het
Cracd	T	A	5: 77,005,478 (GRCm39)	M613K	unknown	Het
Csn2	T	C	5: 87,842,838 (GRCm39)	H47R	possibly damaging	Het
Gm14496	T	A	2: 181,637,458 (GRCm39)	D177E	probably benign	Het
Hmbs	A	G	9: 44,250,845 (GRCm39)	V126A	possibly damaging	Het
Ica1l	A	G	1: 60,054,916 (GRCm39)	M105T	probably damaging	Het
Morc2a	G	A	11: 3,600,428 (GRCm39)	E17K	probably benign	Het
Mroh8	T	C	2: 157,080,232 (GRCm39)		probably benign	Het
Mroh9	G	T	1: 162,883,172 (GRCm39)	L436I	probably damaging	Het
Nup54	T	C	5: 92,565,334 (GRCm39)	D461G	probably benign	Het
Or10ag2	A	T	2: 87,249,319 (GRCm39)	D309V	probably damaging	Het
Or2t45	A	G	11: 58,669,123 (GRCm39)	T57A	probably benign	Het
Pcid2	G	A	8: 13,135,319 (GRCm39)		probably benign	Het
Ppp1r3b	G	T	8: 35,851,872 (GRCm39)	R237L	probably benign	Het
Prdm11	A	G	2: 92,843,102 (GRCm39)	V119A	probably damaging	Het
S100a7l2	T	A	3: 90,995,612 (GRCm39)		probably benign	Het
Serpina5	T	A	12: 104,068,149 (GRCm39)	V70E	probably damaging	Het
Skap2	C	T	6: 51,884,894 (GRCm39)	D249N	probably benign	Het
Slc22a29	A	T	19: 8,184,542 (GRCm39)		probably benign	Het
Slc4a1ap	C	A	5: 31,685,571 (GRCm39)	T283K	possibly damaging	Het
Slc6a21	T	G	7: 44,937,220 (GRCm39)	I575S	probably damaging	Het
Smpd1	T	G	7: 105,203,982 (GRCm39)	W82G	probably benign	Het
Snx14	T	A	9: 88,263,553 (GRCm39)	M897L	probably damaging	Het
Tjp1	A	G	7: 64,972,406 (GRCm39)	V586A	probably damaging	Het
Tmc8	T	C	11: 117,682,910 (GRCm39)		probably benign	Het
Trim34a	A	G	7: 103,909,706 (GRCm39)	Y298C	probably damaging	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
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: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

Posted On

2013-12-03