Mutagenetix > Incidental Mutations

Incidental Mutation 'R1669:Hectd3'

187434

Institutional Source

Beutler Lab

Gene Symbol

Hectd3

Ensembl Gene

ENSMUSG00000046861

Gene Name

HECT domain E3 ubiquitin protein ligase 3

Synonyms

1700064K09Rik

MMRRC Submission

039705-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1669 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116995317-117005277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116999643 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 462 (D462E)

Ref Sequence

ENSEMBL: ENSMUSP00000051922 (fasta)

Gene Model

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

AlphaFold

Q3U487

Predicted Effect

probably damaging
Transcript: ENSMUST00000050067
AA Change: D462E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: D462E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (85/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	C	9: 122,257,183	L258R	possibly damaging	Het
Ap3d1	A	G	10: 80,710,836		probably benign	Het
Aplp2	G	T	9: 31,167,733		probably benign	Het
Arhgap11a	T	C	2: 113,841,912	D237G	possibly damaging	Het
Arhgef4	A	T	1: 34,732,158	H1182L	possibly damaging	Het
Ash1l	G	A	3: 89,067,242		probably null	Het
Bicdl1	C	A	5: 115,656,016	V224L	possibly damaging	Het
Cacna1h	C	A	17: 25,383,471	V1422L	probably damaging	Het
Card10	T	C	15: 78,793,953	E365G	probably benign	Het
Cd180	C	T	13: 102,705,490	T348I	probably damaging	Het
Cds2	T	A	2: 132,295,519		probably null	Het
Chaf1a	C	A	17: 56,063,339	D601E	probably benign	Het
Coprs	C	T	8: 13,885,704	W12*	probably null	Het
Cpsf3	T	A	12: 21,305,331	M424K	probably damaging	Het
Cxcl13	T	A	5: 95,958,741	N57K	probably damaging	Het
Dact1	C	T	12: 71,318,773	T776M	probably damaging	Het
Depdc1a	A	G	3: 159,522,924	K438E	probably benign	Het
Dopey2	T	A	16: 93,769,660	S992T	probably damaging	Het
Dusp11	A	T	6: 85,950,026	H202Q	probably benign	Het
Ezr	T	C	17: 6,739,313	E584G	probably damaging	Het
F830104G03Rik	A	G	3: 56,890,577	V6A	unknown	Het
Fam227a	G	A	15: 79,620,677		probably null	Het
Gapvd1	T	G	2: 34,730,682		probably null	Het
Gm10267	T	C	18: 44,157,300	R47G	probably damaging	Het
Gm13088	T	G	4: 143,654,346	E369A	possibly damaging	Het
Gm6614	T	A	6: 141,987,689	I457F	probably benign	Het
Hfe	A	T	13: 23,706,127	L133*	probably null	Het
Hpcal4	T	C	4: 123,189,076	F72L	probably damaging	Het
Itgb4	G	A	11: 115,991,330	R825H	probably benign	Het
Kcnh8	T	A	17: 52,893,968	Y477N	probably damaging	Het
Kctd1	T	C	18: 15,062,460	N369D	possibly damaging	Het
Kdm1b	C	T	13: 47,068,548	R488C	probably damaging	Het
Kif1c	C	T	11: 70,728,397	L953F	probably damaging	Het
Klra8	A	T	6: 130,115,629	C236*	probably null	Het
Lca5l	T	C	16: 96,159,808	R485G	possibly damaging	Het
Lrrc2	A	G	9: 110,981,650	T363A	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Lyst	G	A	13: 13,644,087	G1314D	possibly damaging	Het
Mmp10	A	T	9: 7,505,525		probably null	Het
Mmp13	A	G	9: 7,277,926	D273G	probably benign	Het
Morc2a	G	A	11: 3,675,885	V162M	probably benign	Het
Msh4	C	T	3: 153,876,720	R417Q	possibly damaging	Het
Nedd9	A	T	13: 41,311,794	V790E	probably damaging	Het
Nlgn1	C	A	3: 25,436,134	L476F	probably damaging	Het
Nox4	C	A	7: 87,295,889	Q118K	probably benign	Het
Nxf1	A	G	19: 8,772,131	T131A	possibly damaging	Het
Olfr1261	T	A	2: 89,993,800		probably null	Het
Olfr13	T	A	6: 43,174,821	S278R	probably damaging	Het
Olfr1361	A	T	13: 21,659,286	S12R	possibly damaging	Het
Olfr1447	A	T	19: 12,901,288	I164K	possibly damaging	Het
Olfr518	T	A	7: 108,880,713	T298S	probably benign	Het
Olfr643	A	T	7: 104,059,309	S98T	probably benign	Het
Oog3	C	A	4: 144,158,438	R309S	probably benign	Het
Oosp3	C	T	19: 11,701,014		probably benign	Het
P2ry6	A	G	7: 100,938,423	V243A	probably damaging	Het
Pgc	C	A	17: 47,733,790	P321T	probably damaging	Het
Prkd1	G	A	12: 50,394,926	H277Y	probably damaging	Het
Prkdc	T	A	16: 15,734,058	S2043T	probably damaging	Het
Rasal3	T	C	17: 32,403,098	N96D	possibly damaging	Het
Rnf4	T	C	5: 34,351,280	F162S	probably damaging	Het
Ros1	A	T	10: 52,161,811	N421K	probably damaging	Het
Rtn4rl1	A	G	11: 75,265,927	D395G	probably benign	Het
Scn8a	T	G	15: 101,011,120	V823G	probably damaging	Het
Sema3d	T	A	5: 12,508,084		probably benign	Het
Slc12a2	T	C	18: 57,904,235	I501T	probably damaging	Het
Slc12a7	C	T	13: 73,795,113	T382I	probably benign	Het
Slc16a12	T	A	19: 34,680,381	I41L	probably benign	Het
Slc1a1	C	A	19: 28,911,794	T489K	probably benign	Het
Slc24a3	C	T	2: 145,613,592	P467L	probably damaging	Het
Snai2	A	T	16: 14,707,044	Y138F	possibly damaging	Het
Sorcs1	A	C	19: 50,475,422	Y197D	probably damaging	Het
Sppl2a	T	A	2: 126,917,794		probably benign	Het
Srgap3	G	A	6: 112,722,904	P1038S	probably benign	Het
Ttn	T	C	2: 76,724,463	E30699G	probably damaging	Het
Vmn2r124	T	A	17: 18,062,944	M300K	possibly damaging	Het
Vwf	T	C	6: 125,647,906	S1873P	possibly damaging	Het
Wrap73	A	G	4: 154,156,131	D360G	probably damaging	Het
Zfp366	T	C	13: 99,229,561	M410T	probably damaging	Het
Zfp608	C	T	18: 54,987,739	V259I	probably benign	Het
Zfp69	C	T	4: 120,947,498		probably benign	Het
Zfp995	T	C	17: 21,879,964	T430A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGGGAAGCACAGTCTCTTCTCAAG -3'
(R):5'- AAGCCTGCGATAAAGAGCTGTCC -3'

Sequencing Primer
(F):5'- CTCAAGAGATTTGTGTAGCAGGC -3'
(R):5'- GCGATAAAGAGCTGTCCCTATTC -3'

Posted On

2014-05-09