Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01901:Ube3c'

179515

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube3c

Ensembl Gene

ENSMUSG00000039000

Gene Name

ubiquitin protein ligase E3C

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

IGL01901

Quality Score

Status

Chromosome

Chromosomal Location

29569242-29676092 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29668007 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1015 (V1015E)

Ref Sequence

ENSEMBL: ENSMUSP00000045998 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000049453
AA Change: V1015E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045998
Gene: ENSMUSG00000039000
AA Change: V1015E

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	G	1: 26,682,584	F1172L	probably benign	Het
Adam2	A	G	14: 66,035,229		probably benign	Het
Aldh1a7	T	G	19: 20,717,739	Y154S	probably damaging	Het
BC117090	C	A	16: 36,334,263	A11S	probably damaging	Het
Casc3	A	G	11: 98,823,121	D393G	probably damaging	Het
Cd180	A	G	13: 102,706,428	I661V	probably benign	Het
Cdh1	T	C	8: 106,657,760	S287P	probably damaging	Het
Clnk	T	C	5: 38,794,978	N6S	probably damaging	Het
Cyp17a1	C	T	19: 46,671,092	V100M	possibly damaging	Het
Ddhd2	A	G	8: 25,748,594	V53A	probably damaging	Het
Elovl7	T	A	13: 108,274,393		probably null	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14180	A	G	11: 99,734,227	S22P	unknown	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Golga5	G	A	12: 102,479,802		probably null	Het
Gpr162	A	T	6: 124,861,407	F93L	possibly damaging	Het
Kcnh8	G	A	17: 52,894,120		probably benign	Het
Lamp3	A	T	16: 19,673,419	F358L	probably damaging	Het
Mdn1	T	G	4: 32,669,591	D409E	probably damaging	Het
Ms4a10	T	C	19: 10,963,010	D211G	probably benign	Het
Ms4a3	T	C	19: 11,639,266	E4G	possibly damaging	Het
Myo15	A	G	11: 60,527,434		probably benign	Het
Olfr1257	A	G	2: 89,881,482	I219V	probably damaging	Het
Olfr1448	T	C	19: 12,919,583	H242R	probably damaging	Het
Olfr612	A	T	7: 103,538,970	L88Q	probably damaging	Het
Olfr638	A	G	7: 104,004,067	H264R	probably damaging	Het
Olfr698	A	G	7: 106,752,545	V281A	possibly damaging	Het
Olfr815	A	G	10: 129,901,853	F286L	probably benign	Het
Penk	T	C	4: 4,134,465	I61V	probably benign	Het
Pkhd1	T	A	1: 20,220,083	K2860N	probably benign	Het
Prtg	C	T	9: 72,855,066	P492S	probably damaging	Het
Tdrd7	T	C	4: 45,989,225		probably benign	Het
Terf2ip	A	G	8: 112,012,068	N196S	probably benign	Het
Tgtp1	T	C	11: 48,987,555	N108D	possibly damaging	Het
Thumpd3	A	G	6: 113,059,971	H277R	probably benign	Het
Tshz2	T	A	2: 169,885,536	L215Q	possibly damaging	Het
Utrn	T	A	10: 12,640,928	K2307N	probably damaging	Het
Vmn1r75	A	G	7: 11,880,812	Y157C	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Ube3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Ube3c	APN	5	29619229	missense	probably damaging	1.00
IGL01526:Ube3c	APN	5	29667962	missense	probably damaging	0.99
IGL02029:Ube3c	APN	5	29619328	missense	probably damaging	1.00
IGL02893:Ube3c	APN	5	29632763	missense	probably damaging	1.00
IGL03400:Ube3c	APN	5	29601347	missense	probably benign	0.00
lord_business	UTSW	5	29637586	splice site	probably benign
R0067:Ube3c	UTSW	5	29598938	missense	possibly damaging	0.94
R0067:Ube3c	UTSW	5	29598938	missense	possibly damaging	0.94
R0099:Ube3c	UTSW	5	29607064	missense	probably damaging	1.00
R0606:Ube3c	UTSW	5	29590928	missense	probably damaging	1.00
R0755:Ube3c	UTSW	5	29637742	missense	probably damaging	1.00
R0900:Ube3c	UTSW	5	29601346	missense	probably benign	0.00
R1624:Ube3c	UTSW	5	29646619	missense	probably benign	0.00
R1701:Ube3c	UTSW	5	29601202	missense	probably benign
R1918:Ube3c	UTSW	5	29587317	missense	probably damaging	1.00
R1933:Ube3c	UTSW	5	29619659	missense	probably damaging	0.97
R2072:Ube3c	UTSW	5	29635640	missense	probably benign	0.02
R2095:Ube3c	UTSW	5	29668040	missense	probably damaging	1.00
R2122:Ube3c	UTSW	5	29619606	missense	probably benign	0.14
R2962:Ube3c	UTSW	5	29658418	missense	possibly damaging	0.81
R3605:Ube3c	UTSW	5	29598938	missense	possibly damaging	0.94
R3606:Ube3c	UTSW	5	29598938	missense	possibly damaging	0.94
R3764:Ube3c	UTSW	5	29637586	splice site	probably benign
R3940:Ube3c	UTSW	5	29619360	missense	probably benign	0.31
R4776:Ube3c	UTSW	5	29632838	critical splice donor site	probably null
R4794:Ube3c	UTSW	5	29597085	missense	probably benign	0.06
R4924:Ube3c	UTSW	5	29631271	missense	possibly damaging	0.56
R5059:Ube3c	UTSW	5	29631295	missense	probably null	0.11
R5068:Ube3c	UTSW	5	29601354	critical splice donor site	probably null
R5140:Ube3c	UTSW	5	29635711	missense	probably damaging	1.00
R5849:Ube3c	UTSW	5	29658409	missense	probably damaging	1.00
R5890:Ube3c	UTSW	5	29658292	missense	possibly damaging	0.77
R5956:Ube3c	UTSW	5	29599056	intron	probably benign
R6035:Ube3c	UTSW	5	29601163	missense	probably benign	0.00
R6035:Ube3c	UTSW	5	29601163	missense	probably benign	0.00
R6264:Ube3c	UTSW	5	29590831	missense	probably damaging	1.00
R6354:Ube3c	UTSW	5	29663583	missense	probably damaging	0.99
R6658:Ube3c	UTSW	5	29602217	missense	probably damaging	1.00
R6877:Ube3c	UTSW	5	29587318	missense	probably benign	0.22

Posted On

2014-05-07