Mutagenetix > Incidental Mutations

Incidental Mutation 'R7444:Hectd3'

577153

Institutional Source

Beutler Lab

Gene Symbol

Hectd3

Ensembl Gene

ENSMUSG00000046861

Gene Name

HECT domain E3 ubiquitin protein ligase 3

Synonyms

1700064K09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116995317-117005277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116996927 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 258 (V258E)

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

possibly damaging
Transcript: ENSMUST00000050067
AA Change: V258E

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: V258E

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 9,007,423	M2024V	probably benign	Het
Ahnak2	T	A	12: 112,781,208	Q1673L		Het
Atic	G	T	1: 71,563,787	V107L	probably benign	Het
B2m	A	G	2: 122,150,935	N44D	probably damaging	Het
Bud13	A	G	9: 46,298,501	D636G	probably damaging	Het
Cenpk	T	C	13: 104,249,517	*307Q	probably null	Het
Cep68	A	G	11: 20,239,438	S525P	probably benign	Het
Clca1	A	G	3: 145,027,432	L105P	probably damaging	Het
Cntnap5a	A	T	1: 116,292,349	M630L	probably benign	Het
Cpb2	A	G	14: 75,283,342	Y399C	probably damaging	Het
Dars2	G	T	1: 161,046,884	P412T	possibly damaging	Het
E2f8	A	T	7: 48,868,179	I665N	probably damaging	Het
Epha4	A	T	1: 77,387,916	I652N	probably damaging	Het
Ermn	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	2: 58,048,067		probably benign	Het
Flrt3	T	C	2: 140,660,467	T414A	probably benign	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Fosb	T	C	7: 19,307,274	D98G	possibly damaging	Het
Gm5773	T	C	3: 93,773,543	L174S	probably damaging	Het
Inf2	T	A	12: 112,605,387	W617R	unknown	Het
Irf7	T	A	7: 141,263,686	I358F	probably damaging	Het
Lipo3	A	G	19: 33,558,263		probably null	Het
Lrig2	A	T	3: 104,497,513	L93*	probably null	Het
Lzts1	C	T	8: 69,135,679	V542M	probably damaging	Het
Mefv	T	A	16: 3,715,522	H295L	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Nat8f6	G	C	6: 85,809,130	S12R	probably benign	Het
Nipal4	G	T	11: 46,166,235	N14K	probably benign	Het
Nlrp4c	T	A	7: 6,092,596	C824*	probably null	Het
Npat	T	C	9: 53,548,910	S53P	probably damaging	Het
Nrxn3	A	G	12: 89,510,694	E549G	probably damaging	Het
Olfr1120	T	A	2: 87,358,100	L219I	possibly damaging	Het
Olfr1253	T	C	2: 89,752,759	K23R	probably benign	Het
Olfr1318	A	T	2: 112,156,715	I255F	probably damaging	Het
Olfr1347	C	A	7: 6,487,920	W311L	probably benign	Het
Olfr398	T	C	11: 73,983,750	N286S	probably damaging	Het
Olfr476	T	A	7: 107,967,604	V69E	probably damaging	Het
Olfr713	T	C	7: 107,036,347	L64P	probably damaging	Het
Olfr779	T	C	10: 129,311,690	M61T	probably benign	Het
Pcdhb11	T	A	18: 37,422,619	I334K	probably damaging	Het
Pcdhb4	T	C	18: 37,309,452	L605P	probably damaging	Het
Pced1a	G	T	2: 130,422,059	H224Q	probably damaging	Het
Pde6b	C	A	5: 108,427,142	S623*	probably null	Het
Pgr	T	C	9: 8,946,882	L708P	probably damaging	Het
Pnpla1	T	C	17: 28,878,481	I207T	possibly damaging	Het
Prkag3	A	T	1: 74,747,266	D173E	probably benign	Het
Prrt4	A	G	6: 29,176,517	F270L	probably benign	Het
Ptdss2	C	A	7: 141,153,084	P260Q	possibly damaging	Het
Rftn1	T	A	17: 50,047,407	N309I	probably damaging	Het
Rgs12	T	C	5: 35,025,943	V978A	possibly damaging	Het
Rnf111	T	C	9: 70,440,843	Y816C	probably damaging	Het
Rnf208	C	T	2: 25,243,314	P7S	probably damaging	Het
Rnf24	T	C	2: 131,313,295	D4G	probably damaging	Het
Ryr2	T	A	13: 11,555,463	I4925L	probably benign	Het
S1pr5	A	T	9: 21,245,082	V16D	possibly damaging	Het
Scgb1b24	A	G	7: 33,744,141	D75G	possibly damaging	Het
Setdb2	A	T	14: 59,423,345	C116*	probably null	Het
Sh3rf2	G	A	18: 42,101,539	R129Q	probably damaging	Het
Spata31d1d	C	T	13: 59,727,193	V843I	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Tecrl	T	A	5: 83,355,068		probably benign	Het
Tex15	T	A	8: 33,576,562	S2007T	possibly damaging	Het
Tomm7	C	A	5: 23,844,157		probably benign	Het
Trpv1	A	C	11: 73,244,204	N409T	possibly damaging	Het
Try5	T	A	6: 41,311,365	Y218F	probably benign	Het
Tspan5	A	T	3: 138,898,122	I196F	possibly damaging	Het
Wdhd1	A	T	14: 47,251,948	C709*	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
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
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'- AATGCTAGGTCCAGAACTCCC -3'
(R):5'- TCCTGAGGACCCAGAGTATG -3'

Sequencing Primer
(F):5'- GCTAGGTCCAGAACTCCCATCAC -3'
(R):5'- GTATCTGAATGAGTCTCTAGGCACC -3'

Posted On

2019-10-07