Mutagenetix > Incidental Mutations

Incidental Mutation 'R1628:Hectd3'

172595

Institutional Source

Beutler Lab

Gene Symbol

Hectd3

Ensembl Gene

ENSMUSG00000046861

Gene Name

HECT domain E3 ubiquitin protein ligase 3

Synonyms

1700064K09Rik

MMRRC Submission

039665-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1628 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116995317-117005277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116997392 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 345 (H345R)

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: H345R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: H345R

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: ENSMUST00000135164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155267

Meta Mutation Damage Score

0.6393

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.7%

Validation Efficiency

99% (75/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	T	17: 84,691,991	Q172*	probably null	Het
AI467606	G	A	7: 127,092,583	G110D	probably benign	Het
Arhgef15	A	C	11: 68,944,814	L805R	possibly damaging	Het
B3galnt1	G	A	3: 69,575,628	T100I	probably damaging	Het
Bod1l	T	A	5: 41,816,982	M2330L	probably benign	Het
Calcr	A	T	6: 3,700,251	H280Q	possibly damaging	Het
Camk1d	T	C	2: 5,311,037	D263G	probably damaging	Het
Cd48	T	A	1: 171,704,852	I233N	probably damaging	Het
Cyp3a25	A	T	5: 146,001,463	Y68*	probably null	Het
Dapk3	C	A	10: 81,191,809	T227K	possibly damaging	Het
Dnajc22	A	G	15: 99,100,936	M1V	probably null	Het
Etv5	C	T	16: 22,401,671		probably null	Het
Gabrr1	A	G	4: 33,152,432	Y124C	probably damaging	Het
Gba2	C	T	4: 43,570,118	R392Q	probably benign	Het
Gli3	C	G	13: 15,726,312	A1428G	probably benign	Het
Gls	G	A	1: 52,232,676	A106V	probably benign	Het
Gm1966	A	T	7: 106,603,269	L256*	probably null	Het
Gm21370	A	G	13: 120,026,878	V45A	possibly damaging	Het
Gm8765	T	C	13: 50,702,288	L654P	probably benign	Het
Gpr4	A	G	7: 19,223,199	T349A	probably benign	Het
Gpr6	C	T	10: 41,071,548	V13M	possibly damaging	Het
Igfl3	A	T	7: 18,180,307	K135N	probably benign	Het
Il23r	A	G	6: 67,423,609	L579S	probably damaging	Het
Itsn2	A	C	12: 4,629,652	M154L	probably benign	Het
Junb	T	A	8: 84,978,410	Q7L	possibly damaging	Het
Kif21b	T	A	1: 136,171,220	H1415Q	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klhdc10	T	G	6: 30,444,462	F79L	probably damaging	Het
Klk1b8	A	G	7: 43,954,141		probably null	Het
Lmbrd2	T	A	15: 9,182,506	N509K	probably damaging	Het
Mctp2	A	G	7: 72,211,589		probably null	Het
Myo3b	A	G	2: 70,286,962	N913S	probably benign	Het
N4bp2	G	A	5: 65,803,572		probably null	Het
Nt5c1a	A	G	4: 123,208,491	E70G	possibly damaging	Het
Olfr358	A	G	2: 37,004,726	V296A	probably damaging	Het
Papln	A	G	12: 83,784,406		probably benign	Het
Pcnx3	G	T	19: 5,686,065	S244R	probably damaging	Het
Pecam1	A	T	11: 106,682,960		probably null	Het
Plppr4	A	T	3: 117,328,272	L219Q	probably damaging	Het
Ppp2r5b	A	G	19: 6,230,905		probably null	Het
Ralgapb	A	G	2: 158,430,463	R146G	probably benign	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Rfpl4b	T	G	10: 38,821,534	I24L	probably benign	Het
Serpinb1b	G	A	13: 33,093,654	C290Y	probably benign	Het
Slc25a17	A	G	15: 81,360,724	S3P	possibly damaging	Het
Slc4a11	A	C	2: 130,687,127		probably null	Het
Sptb	A	G	12: 76,583,848	Y2231H	probably damaging	Het
Srgap1	T	G	10: 121,870,339	M221L	probably benign	Het
Srgap3	A	G	6: 112,739,370	L599P	probably damaging	Het
Svep1	C	T	4: 58,107,561	V1177M	probably benign	Het
Tarbp1	A	G	8: 126,430,860	F1303L	possibly damaging	Het
Tbxa2r	T	C	10: 81,334,507	S276P	possibly damaging	Het
Try10	A	T	6: 41,357,456	D194V	probably damaging	Het
Ttc37	A	G	13: 76,111,791	E70G	possibly damaging	Het
Ttc39c	T	C	18: 12,734,879		probably benign	Het
Ttc8	G	A	12: 98,982,521	V489M	probably benign	Het
Unc13b	G	T	4: 43,263,371	R1912L	probably damaging	Het
Unc45b	T	A	11: 82,929,380		probably null	Het
Usp17lb	T	C	7: 104,840,841	Y292C	probably damaging	Het
Usp34	A	G	11: 23,488,725	D3429G	probably damaging	Het
Usp42	A	G	5: 143,717,367	S500P	probably damaging	Het
Vmn2r14	T	C	5: 109,219,972	M385V	probably benign	Het
Vmn2r60	G	A	7: 42,136,406	W211*	probably null	Het
Vwf	A	T	6: 125,647,738		probably benign	Het
Wdfy4	A	T	14: 32,959,961	F3018I	probably damaging	Het
Wwox	A	G	8: 114,448,233	T102A	probably benign	Het
Zfp142	A	C	1: 74,571,888	L813R	possibly damaging	Het
Zfp407	G	A	18: 84,354,533	T1670M	probably damaging	Het
Zfp93	A	G	7: 24,274,857	E89G	probably benign	Het
Zwint	C	T	10: 72,656,295	Q18*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGAAGAAGCTGAGTGACGTGA -3'
(R):5'- TGAGCCCAACCACCTCTACGG -3'

Sequencing Primer
(F):5'- GCTGAGTGACGTGAACATTG -3'
(R):5'- aaaccctttcctccccaac -3'

Posted On

2014-04-24