Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03400:Ube3c'

421382

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 #

IGL03400

Quality Score

Status

Chromosome

Chromosomal Location

29774240-29881075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29806345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 329 (Y329C)

Ref Sequence

ENSEMBL: ENSMUSP00000142474 (fasta)

Gene Model

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

AlphaFold

Q80U95

Predicted Effect

probably benign
Transcript: ENSMUST00000049453
AA Change: Y329C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045998
Gene: ENSMUSG00000039000
AA Change: Y329C

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

noncoding transcript
Transcript: ENSMUST00000197193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197953

Predicted Effect

probably benign
Transcript: ENSMUST00000199032
AA Change: Y329C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000142474
Gene: ENSMUSG00000039000
AA Change: Y329C

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Bmp3	T	C	5: 99,019,957 (GRCm39)	S127P	probably damaging	Het
Cemip	A	G	7: 83,607,724 (GRCm39)	S761P	probably damaging	Het
Cenatac	A	G	9: 44,324,486 (GRCm39)	V185A	probably benign	Het
Ces3b	A	G	8: 105,819,568 (GRCm39)	T495A	probably damaging	Het
Cops3	A	T	11: 59,708,914 (GRCm39)	D413E	probably benign	Het
Cyp4f16	A	G	17: 32,769,327 (GRCm39)	I406V	probably benign	Het
Efcab6	A	T	15: 83,751,246 (GRCm39)		probably benign	Het
Emsy	A	G	7: 98,251,933 (GRCm39)	V703A	possibly damaging	Het
Fancb	T	C	X: 163,778,587 (GRCm39)	S587P	possibly damaging	Het
Farp1	A	G	14: 121,444,733 (GRCm39)	Y80C	probably damaging	Het
Fgf10	T	C	13: 118,918,151 (GRCm39)		probably null	Het
Fgf13	A	G	X: 58,171,248 (GRCm39)		probably benign	Het
Filip1	T	C	9: 79,727,755 (GRCm39)	K288R	probably benign	Het
L3mbtl3	T	C	10: 26,191,424 (GRCm39)	N458S	unknown	Het
Nek11	C	T	9: 105,082,065 (GRCm39)	A513T	probably benign	Het
Or10a3m	A	C	7: 108,312,733 (GRCm39)	I46L	probably benign	Het
Or11q2	T	A	X: 48,772,781 (GRCm39)	L134Q	probably damaging	Het
Or2ah1	T	C	2: 85,654,094 (GRCm39)	Y260H	probably damaging	Het
Palld	G	T	8: 61,966,489 (GRCm39)	A630E	probably damaging	Het
Pdk1	T	C	2: 71,726,091 (GRCm39)	M333T	probably benign	Het
Rab9	T	C	X: 165,240,744 (GRCm39)	N189S	probably benign	Het
Shtn1	C	T	19: 59,020,690 (GRCm39)		probably benign	Het
Sntg1	T	C	1: 8,533,638 (GRCm39)	I339V	probably damaging	Het
Spns3	A	G	11: 72,390,501 (GRCm39)	V418A	possibly damaging	Het
St14	T	A	9: 31,008,267 (GRCm39)		probably benign	Het
Tedc2	T	C	17: 24,438,777 (GRCm39)	D180G	probably benign	Het
Trim33	T	C	3: 103,236,459 (GRCm39)	I523T	probably damaging	Het
Ttn	T	A	2: 76,551,208 (GRCm39)	M23068L	probably benign	Het
Ttn	T	C	2: 76,579,266 (GRCm39)	M15549V	probably damaging	Het
Tubgcp6	A	G	15: 88,992,302 (GRCm39)		probably benign	Het
Zmym4	G	T	4: 126,816,920 (GRCm39)	D259E	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
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

2016-08-02