Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02397:Hectd3'

291717

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hectd3

Ensembl Gene

ENSMUSG00000046861

Gene Name

HECT domain E3 ubiquitin protein ligase 3

Synonyms

1700064K09Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02397

Quality Score

Status

Chromosome

Chromosomal Location

116995317-117005277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 117003136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 816 (A816D)

Ref Sequence

ENSEMBL: ENSMUSP00000051922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050067]

AlphaFold

Q3U487

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050067
AA Change: A816D

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: A816D

Domain	Start	End	E-Value	Type
low complexity region	26	41	N/A	INTRINSIC
low complexity region	68	81	N/A	INTRINSIC
APC10	237	391	6.75e-23	SMART
HECTc	514	857	1.27e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155267

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene transfers ubiquitin from an E2 ubiquitin-conjugating enzyme to targeted substrates, leading to the degradation of those substrates. The encoded protein has been shown to transfer ubiquitin to TRIOBP to facilitate cell cycle progression, and to STX8. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,646,875	N400S	probably benign	Het
Adam12	T	A	7: 133,909,819		probably benign	Het
Adam5	T	C	8: 24,744,133		probably benign	Het
Amn	A	T	12: 111,274,479	Y139F	possibly damaging	Het
Ano10	C	A	9: 122,261,392	R285L	probably damaging	Het
Atad2b	A	G	12: 4,974,046	Y57C	probably damaging	Het
Brd8	T	C	18: 34,604,873	K786R	probably damaging	Het
Cacna2d1	T	C	5: 16,320,164		probably benign	Het
Card9	C	T	2: 26,352,329	D532N	probably damaging	Het
Cd22	T	C	7: 30,877,625	T86A	probably benign	Het
Cebpz	A	T	17: 78,923,261	D842E	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cspp1	A	G	1: 10,108,465	N713S	possibly damaging	Het
Eml5	T	C	12: 98,790,674	T1899A	probably benign	Het
Fpgs	T	C	2: 32,685,789	T381A	probably damaging	Het
Frmd7	G	A	X: 50,895,898	T465I	possibly damaging	Het
Gm9837	A	T	11: 53,470,160		probably benign	Het
Itpripl2	A	G	7: 118,490,296	W347R	probably damaging	Het
Kcnc3	A	G	7: 44,595,794	T503A	probably damaging	Het
Mmadhc	T	C	2: 50,288,980	E142G	possibly damaging	Het
Nabp2	T	A	10: 128,408,323	N138I	possibly damaging	Het
Obscn	A	G	11: 59,076,899	V2902A	possibly damaging	Het
Rbm8a2	T	C	1: 175,978,638	D91G	probably damaging	Het
Samd3	A	T	10: 26,233,576	Y134F	possibly damaging	Het
Slc11a2	A	G	15: 100,401,649	F58S	probably damaging	Het
Slitrk4	T	C	X: 64,272,684	T126A	probably damaging	Het
Sspo	C	A	6: 48,461,638	P1547T	probably benign	Het
Tecta	T	C	9: 42,394,998	S45G	probably damaging	Het
Tenm3	T	C	8: 48,236,694	T1937A	possibly damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Trmt1l	T	A	1: 151,439,531	I156N	probably damaging	Het
Vmn1r71	C	T	7: 10,748,272	R163Q	probably benign	Het
Ythdf2	C	T	4: 132,211,446	G13D	probably damaging	Het
Zbtb7c	A	T	18: 76,136,976	Y45F	possibly damaging	Het
Zfc3h1	G	A	10: 115,407,985	M740I	probably damaging	Het

Other mutations in Hectd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Hectd3	APN	4	117000588	splice site	probably benign
IGL00227:Hectd3	APN	4	117000587	splice site	probably benign
IGL00227:Hectd3	APN	4	117000589	splice site	probably benign
IGL00987:Hectd3	APN	4	116999643	missense	probably damaging	0.98
IGL01402:Hectd3	APN	4	116996065	missense	probably damaging	0.96
IGL01660:Hectd3	APN	4	116996372	missense	possibly damaging	0.91
IGL03029:Hectd3	APN	4	116996965	nonsense	probably null
chopstix2	UTSW	4	116996396	missense	probably benign	0.08
R0147:Hectd3	UTSW	4	116997040	unclassified	probably benign
R0240:Hectd3	UTSW	4	117002613	missense	probably damaging	0.97
R0240:Hectd3	UTSW	4	117002613	missense	probably damaging	0.97
R0611:Hectd3	UTSW	4	116996044	missense	possibly damaging	0.67
R1367:Hectd3	UTSW	4	116997170	missense	probably null	0.48
R1401:Hectd3	UTSW	4	117002269	missense	possibly damaging	0.52
R1444:Hectd3	UTSW	4	116996396	missense	probably benign	0.08
R1466:Hectd3	UTSW	4	116996566	missense	probably damaging	0.98
R1466:Hectd3	UTSW	4	116996566	missense	probably damaging	0.98
R1517:Hectd3	UTSW	4	117002994	missense	probably damaging	0.96
R1584:Hectd3	UTSW	4	116996566	missense	probably damaging	0.98
R1593:Hectd3	UTSW	4	116997020	missense	possibly damaging	0.86
R1628:Hectd3	UTSW	4	116997392	missense	probably damaging	1.00
R1669:Hectd3	UTSW	4	116999643	missense	probably damaging	0.98
R1731:Hectd3	UTSW	4	116996455	critical splice donor site	probably null
R1918:Hectd3	UTSW	4	117000343	missense	possibly damaging	0.68
R2029:Hectd3	UTSW	4	117000685	missense	probably damaging	0.99
R2174:Hectd3	UTSW	4	116999701	missense	probably benign	0.04
R2184:Hectd3	UTSW	4	117000903	missense	possibly damaging	0.93
R2226:Hectd3	UTSW	4	116995689	missense	possibly damaging	0.67
R3721:Hectd3	UTSW	4	116999745	missense	probably benign	0.08
R3895:Hectd3	UTSW	4	116996089	missense	probably damaging	1.00
R3937:Hectd3	UTSW	4	116998530	missense	probably benign	0.28
R4291:Hectd3	UTSW	4	116995692	missense	probably damaging	1.00
R4729:Hectd3	UTSW	4	116997218	missense	probably damaging	0.98
R4837:Hectd3	UTSW	4	117002597	missense	probably null	0.32
R5059:Hectd3	UTSW	4	116997164	missense	possibly damaging	0.93
R5090:Hectd3	UTSW	4	117000238	splice site	probably benign
R5910:Hectd3	UTSW	4	117002134	missense	probably benign	0.09
R5932:Hectd3	UTSW	4	117002273	missense	possibly damaging	0.79
R6182:Hectd3	UTSW	4	117000279	missense	probably damaging	1.00
R6292:Hectd3	UTSW	4	116998808	missense	probably damaging	1.00
R6405:Hectd3	UTSW	4	117000624	missense	probably benign	0.04
R6478:Hectd3	UTSW	4	116999586	missense	probably damaging	1.00
R7444:Hectd3	UTSW	4	116996927	missense	possibly damaging	0.48
R7471:Hectd3	UTSW	4	116996588	missense	probably benign	0.01
R8053:Hectd3	UTSW	4	117000858	missense	possibly damaging	0.65
R8671:Hectd3	UTSW	4	116996581	missense	possibly damaging	0.67
R8840:Hectd3	UTSW	4	116998407	missense	probably benign	0.14
Z1177:Hectd3	UTSW	4	116998760	missense	probably damaging	1.00

Posted On

2015-04-16