Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01402:Hectd3'

79679

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 #

IGL01402

Quality Score

Status

Chromosome

Chromosomal Location

116995317-117005277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116996065 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 163 (R163L)

Ref Sequence

ENSEMBL: ENSMUSP00000051922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030446] [ENSMUST00000050067] [ENSMUST00000130273]

AlphaFold

Q3U487

Predicted Effect

probably benign
Transcript: ENSMUST00000030446

SMART Domains

Protein: ENSMUSP00000030446
Gene: ENSMUSG00000028684

Domain	Start	End	E-Value	Type
Pfam:URO-D	14	360	2.4e-135	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000050067
AA Change: R163L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: R163L

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: ENSMUST00000123079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127635

Predicted Effect

probably benign
Transcript: ENSMUST00000130273

SMART Domains

Protein: ENSMUSP00000116154
Gene: ENSMUSG00000028684

Domain	Start	End	E-Value	Type
Pfam:URO-D	1	64	1.2e-18	PFAM
Pfam:URO-D	60	120	4e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153629

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,653	S351P	possibly damaging	Het
Abca2	T	C	2: 25,442,003	S1376P	probably damaging	Het
Ablim3	A	G	18: 61,871,683	Y12H	probably damaging	Het
Akr1b7	A	G	6: 34,421,117	R294G	possibly damaging	Het
Aldh3b1	A	C	19: 3,921,205	V153G	probably benign	Het
Alk	A	T	17: 71,874,178	H1372Q	probably damaging	Het
Ano9	A	C	7: 141,102,042	Y731*	probably null	Het
Apol11b	G	A	15: 77,638,019	T26M	probably damaging	Het
Asl	T	C	5: 130,019,804	E43G	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Cfap43	T	C	19: 47,795,666	D476G	probably benign	Het
Cpa1	A	G	6: 30,645,276	H417R	possibly damaging	Het
Cpeb3	T	C	19: 37,088,548	D407G	probably benign	Het
Dcaf15	A	T	8: 84,098,397	C469S	probably damaging	Het
Dpy19l4	C	A	4: 11,273,006		probably null	Het
E4f1	A	T	17: 24,444,234	L699Q	probably damaging	Het
Eif4g2	A	G	7: 111,077,027	F349S	possibly damaging	Het
Ermap	T	C	4: 119,187,158	Y147C	probably damaging	Het
Frk	A	C	10: 34,547,385	E153A	probably damaging	Het
Fubp3	G	A	2: 31,604,721		probably null	Het
Gdi2	A	G	13: 3,564,611	T319A	probably benign	Het
Gjc3	A	G	5: 137,957,858	F55S	probably damaging	Het
Gm10762	C	T	2: 128,967,085		probably benign	Het
Got1	A	G	19: 43,504,609	I291T	possibly damaging	Het
Gpr179	C	A	11: 97,338,186	G1048*	probably null	Het
Hectd4	T	C	5: 121,339,417		probably benign	Het
Ifnb1	T	C	4: 88,522,243	R178G	probably benign	Het
Ino80	T	A	2: 119,456,718	D56V	possibly damaging	Het
Kctd1	T	A	18: 14,969,553	Q857L	probably damaging	Het
Kdm5a	T	A	6: 120,390,679	L445*	probably null	Het
Lins1	G	A	7: 66,713,928	V524I	probably damaging	Het
Lrp1	A	T	10: 127,595,032	Y383N	probably damaging	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Mgam	A	C	6: 40,644,945	K84Q	probably benign	Het
Mlh3	A	T	12: 85,267,929	F494L	probably benign	Het
Mpped1	T	C	15: 83,792,213	F60S	possibly damaging	Het
Myo1e	A	G	9: 70,337,766	Y382C	probably benign	Het
Ncor1	C	A	11: 62,340,474	V836F	probably damaging	Het
Nktr	G	A	9: 121,741,152		probably null	Het
Olfr120	A	G	17: 37,726,302	T93A	probably benign	Het
Olfr175-ps1	G	A	16: 58,824,595	T38I	probably damaging	Het
Olfr984	A	G	9: 40,101,262	I76T	probably benign	Het
Rnf144a	T	A	12: 26,327,301	Y93F	probably benign	Het
Rubcn	G	A	16: 32,827,296	T636M	probably damaging	Het
Scn5a	A	C	9: 119,486,470	L1724R	probably damaging	Het
Sel1l	A	G	12: 91,841,833	S45P	possibly damaging	Het
Serpina3k	A	G	12: 104,340,623	D38G	probably benign	Het
Sh3bgr	A	C	16: 96,206,490	K18N	probably damaging	Het
Slc28a2	T	G	2: 122,452,057	I287M	probably damaging	Het
St8sia6	T	C	2: 13,665,507	N214S	probably damaging	Het
Syt11	A	G	3: 88,762,216	I123T	probably benign	Het
Tcerg1l	A	T	7: 138,259,839	I387N	probably damaging	Het
Tfg	C	A	16: 56,694,493		probably benign	Het
Tgm4	A	G	9: 123,051,454	K307E	possibly damaging	Het
Tmem177	T	C	1: 119,910,061	D296G	probably damaging	Het
Tmem270	C	T	5: 134,901,909		probably benign	Het
Tnrc6b	G	T	15: 80,880,544	G749V	possibly damaging	Het
Trp63	C	A	16: 25,820,385		probably benign	Het
Ugt1a8	T	C	1: 88,087,895	L10P	probably benign	Het
Vmn2r107	A	T	17: 20,375,747	K854M	probably damaging	Het
Vmn2r45	T	C	7: 8,481,468	N446S	probably damaging	Het
Vps13c	A	T	9: 67,913,204		probably null	Het
Wdr91	G	A	6: 34,889,063	P518L	probably benign	Het
Yap1	G	A	9: 7,934,741		probably benign	Het
Zfp282	A	C	6: 47,897,836	D325A	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
IGL01660:Hectd3	APN	4	116996372	missense	possibly damaging	0.91
IGL02397:Hectd3	APN	4	117003136	missense	possibly damaging	0.94
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

2013-11-05