Mutagenetix > Incidental Mutation

Incidental Mutation 'R4837:Hectd3'

374329

Institutional Source

Beutler Lab

Gene Symbol

Hectd3

Ensembl Gene

ENSMUSG00000046861

Gene Name

HECT domain E3 ubiquitin protein ligase 3

Synonyms

1700064K09Rik

MMRRC Submission

042452-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116852514-116862474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116859794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 744 (C744S)

Ref Sequence

ENSEMBL: ENSMUSP00000051922 (fasta)

Gene Model

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

AlphaFold

Q3U487

Predicted Effect

probably null
Transcript: ENSMUST00000050067
AA Change: C744S

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: C744S

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

0.5941

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,846,203 (GRCm39)	H618L	probably benign	Het
Adgrl3	A	G	5: 81,914,081 (GRCm39)	T1230A	probably benign	Het
Ahnak2	A	G	12: 112,749,359 (GRCm39)	S203P	probably benign	Het
Allc	A	G	12: 28,609,308 (GRCm39)	V244A	probably benign	Het
Ap3m1	G	A	14: 21,087,225 (GRCm39)	P157L	probably damaging	Het
Arhgef2	T	G	3: 88,540,250 (GRCm39)	I97S	probably damaging	Het
Btaf1	C	A	19: 36,944,185 (GRCm39)	T398K	probably benign	Het
Cabp1	T	C	5: 115,311,212 (GRCm39)	M158V	probably damaging	Het
Ccdc162	G	A	10: 41,549,863 (GRCm39)	P340L	probably benign	Het
Ccdc168	G	A	1: 44,100,594 (GRCm39)	T168I	possibly damaging	Het
Clip4	A	G	17: 72,141,217 (GRCm39)	K524E	probably damaging	Het
Cltc	A	G	11: 86,586,474 (GRCm39)	V189A	probably benign	Het
Cmc2	A	G	8: 117,620,879 (GRCm39)	F34S	probably damaging	Het
Ctcfl	G	T	2: 172,955,449 (GRCm39)	T271N	probably benign	Het
Cyp4f16	T	A	17: 32,761,738 (GRCm39)	F124I	possibly damaging	Het
Ddx41	C	A	13: 55,679,461 (GRCm39)	R479L	possibly damaging	Het
Dgcr6	C	A	16: 17,884,710 (GRCm39)	N87K	possibly damaging	Het
Dll1	A	G	17: 15,589,121 (GRCm39)	L518P	probably damaging	Het
Dnaja4	G	T	9: 54,617,928 (GRCm39)	M263I	probably benign	Het
Dusp13b	T	A	14: 21,793,593 (GRCm39)		probably benign	Het
Fam185a	T	A	5: 21,685,375 (GRCm39)	I357N	probably benign	Het
Fam186a	T	C	15: 99,838,678 (GRCm39)	Y2522C	unknown	Het
Fam222a	T	A	5: 114,732,458 (GRCm39)	C4*	probably null	Het
Filip1	T	C	9: 79,726,741 (GRCm39)	D626G	probably damaging	Het
Ghrhr	C	T	6: 55,365,172 (GRCm39)	R389C	probably damaging	Het
Gstm3	T	A	3: 107,871,531 (GRCm39)	T217S	probably benign	Het
Gucy2g	T	C	19: 55,214,485 (GRCm39)	T548A	probably benign	Het
Hnrnpl	T	C	7: 28,516,762 (GRCm39)	S184P	probably benign	Het
Il3	G	A	11: 54,158,083 (GRCm39)		probably benign	Het
Itga5	C	T	15: 103,262,511 (GRCm39)	G330S	probably damaging	Het
Kl	A	G	5: 150,904,312 (GRCm39)	T355A	possibly damaging	Het
Lipk	A	C	19: 34,009,720 (GRCm39)	S208R	probably damaging	Het
Mrs2	T	A	13: 25,183,040 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,674,887 (GRCm39)	E372G	probably damaging	Het
Myh4	C	A	11: 67,149,818 (GRCm39)	A1821D	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nlrp12	T	C	7: 3,279,693 (GRCm39)	E881G	probably damaging	Het
Nol9	T	C	4: 152,136,552 (GRCm39)		probably benign	Het
Nwd1	A	G	8: 73,383,759 (GRCm39)	E52G	probably damaging	Het
Opn4	A	G	14: 34,318,261 (GRCm39)	V242A	probably damaging	Het
Or4e1	A	T	14: 52,701,103 (GRCm39)	M121K	probably damaging	Het
Or4k44	T	A	2: 111,368,319 (GRCm39)	H105L	probably damaging	Het
Or5m13	A	G	2: 85,748,748 (GRCm39)	T160A	probably benign	Het
Or6b1	T	G	6: 42,814,783 (GRCm39)		probably null	Het
Or6b2b	A	G	1: 92,418,697 (GRCm39)	V260A	probably benign	Het
Paxbp1	G	A	16: 90,831,866 (GRCm39)	Q341*	probably null	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pcdhb18	G	A	18: 37,622,867 (GRCm39)	V66M	probably damaging	Het
Pikfyve	A	G	1: 65,285,749 (GRCm39)	E951G	possibly damaging	Het
Plcg1	A	G	2: 160,592,906 (GRCm39)	N179S	probably benign	Het
Prr11	A	C	11: 86,989,517 (GRCm39)	S285A	probably benign	Het
Ranbp17	A	G	11: 33,278,451 (GRCm39)	S139P	probably damaging	Het
Rasa4	G	A	5: 136,120,664 (GRCm39)		probably null	Het
Rnf213	G	C	11: 119,333,589 (GRCm39)	G2934R	probably benign	Het
Rpap1	A	G	2: 119,608,732 (GRCm39)	V210A	probably benign	Het
Rpn1	T	A	6: 88,067,187 (GRCm39)	N182K	probably benign	Het
Rps24	C	T	14: 24,541,855 (GRCm39)	T14I	possibly damaging	Het
Rrp12	C	T	19: 41,865,944 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,108,539 (GRCm39)		probably null	Het
Rufy1	A	G	11: 50,292,320 (GRCm39)	S490P	probably damaging	Het
Sec62	T	A	3: 30,864,018 (GRCm39)	M100K	unknown	Het
Spata16	A	G	3: 26,787,081 (GRCm39)	H253R	possibly damaging	Het
Srcap	T	C	7: 127,158,134 (GRCm39)		probably benign	Het
Srrm1	A	G	4: 135,072,823 (GRCm39)		probably benign	Het
Tbcd	G	A	11: 121,473,611 (GRCm39)		probably null	Het
Tedc2	C	A	17: 24,439,567 (GRCm39)	A25S	probably damaging	Het
Tnr	A	T	1: 159,512,358 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,936,981 (GRCm39)	D3730A	probably damaging	Het
Tor2a	G	A	2: 32,650,609 (GRCm39)	G201D	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Vmn1r211	G	T	13: 23,036,296 (GRCm39)	Q124K	probably benign	Het
Wasf3	T	C	5: 146,397,788 (GRCm39)	V185A	probably benign	Het
Zbtb12	A	G	17: 35,114,985 (GRCm39)	T257A	probably benign	Het

Other mutations in Hectd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Hectd3	APN	4	116,857,786 (GRCm39)	splice site	probably benign
IGL00227:Hectd3	APN	4	116,857,785 (GRCm39)	splice site	probably benign
IGL00227:Hectd3	APN	4	116,857,784 (GRCm39)	splice site	probably benign
IGL00987:Hectd3	APN	4	116,856,840 (GRCm39)	missense	probably damaging	0.98
IGL01402:Hectd3	APN	4	116,853,262 (GRCm39)	missense	probably damaging	0.96
IGL01660:Hectd3	APN	4	116,853,569 (GRCm39)	missense	possibly damaging	0.91
IGL02397:Hectd3	APN	4	116,860,333 (GRCm39)	missense	possibly damaging	0.94
IGL03029:Hectd3	APN	4	116,854,162 (GRCm39)	nonsense	probably null
chopstix2	UTSW	4	116,853,593 (GRCm39)	missense	probably benign	0.08
R0147:Hectd3	UTSW	4	116,854,237 (GRCm39)	unclassified	probably benign
R0240:Hectd3	UTSW	4	116,859,810 (GRCm39)	missense	probably damaging	0.97
R0240:Hectd3	UTSW	4	116,859,810 (GRCm39)	missense	probably damaging	0.97
R0611:Hectd3	UTSW	4	116,853,241 (GRCm39)	missense	possibly damaging	0.67
R1367:Hectd3	UTSW	4	116,854,367 (GRCm39)	missense	probably null	0.48
R1401:Hectd3	UTSW	4	116,859,466 (GRCm39)	missense	possibly damaging	0.52
R1444:Hectd3	UTSW	4	116,853,593 (GRCm39)	missense	probably benign	0.08
R1466:Hectd3	UTSW	4	116,853,763 (GRCm39)	missense	probably damaging	0.98
R1466:Hectd3	UTSW	4	116,853,763 (GRCm39)	missense	probably damaging	0.98
R1517:Hectd3	UTSW	4	116,860,191 (GRCm39)	missense	probably damaging	0.96
R1584:Hectd3	UTSW	4	116,853,763 (GRCm39)	missense	probably damaging	0.98
R1593:Hectd3	UTSW	4	116,854,217 (GRCm39)	missense	possibly damaging	0.86
R1628:Hectd3	UTSW	4	116,854,589 (GRCm39)	missense	probably damaging	1.00
R1669:Hectd3	UTSW	4	116,856,840 (GRCm39)	missense	probably damaging	0.98
R1731:Hectd3	UTSW	4	116,853,652 (GRCm39)	critical splice donor site	probably null
R1918:Hectd3	UTSW	4	116,857,540 (GRCm39)	missense	possibly damaging	0.68
R2029:Hectd3	UTSW	4	116,857,882 (GRCm39)	missense	probably damaging	0.99
R2174:Hectd3	UTSW	4	116,856,898 (GRCm39)	missense	probably benign	0.04
R2184:Hectd3	UTSW	4	116,858,100 (GRCm39)	missense	possibly damaging	0.93
R2226:Hectd3	UTSW	4	116,852,886 (GRCm39)	missense	possibly damaging	0.67
R3721:Hectd3	UTSW	4	116,856,942 (GRCm39)	missense	probably benign	0.08
R3895:Hectd3	UTSW	4	116,853,286 (GRCm39)	missense	probably damaging	1.00
R3937:Hectd3	UTSW	4	116,855,727 (GRCm39)	missense	probably benign	0.28
R4291:Hectd3	UTSW	4	116,852,889 (GRCm39)	missense	probably damaging	1.00
R4729:Hectd3	UTSW	4	116,854,415 (GRCm39)	missense	probably damaging	0.98
R5059:Hectd3	UTSW	4	116,854,361 (GRCm39)	missense	possibly damaging	0.93
R5090:Hectd3	UTSW	4	116,857,435 (GRCm39)	splice site	probably benign
R5910:Hectd3	UTSW	4	116,859,331 (GRCm39)	missense	probably benign	0.09
R5932:Hectd3	UTSW	4	116,859,470 (GRCm39)	missense	possibly damaging	0.79
R6182:Hectd3	UTSW	4	116,857,476 (GRCm39)	missense	probably damaging	1.00
R6292:Hectd3	UTSW	4	116,856,005 (GRCm39)	missense	probably damaging	1.00
R6405:Hectd3	UTSW	4	116,857,821 (GRCm39)	missense	probably benign	0.04
R6478:Hectd3	UTSW	4	116,856,783 (GRCm39)	missense	probably damaging	1.00
R7444:Hectd3	UTSW	4	116,854,124 (GRCm39)	missense	possibly damaging	0.48
R7471:Hectd3	UTSW	4	116,853,785 (GRCm39)	missense	probably benign	0.01
R8053:Hectd3	UTSW	4	116,858,055 (GRCm39)	missense	possibly damaging	0.65
R8671:Hectd3	UTSW	4	116,853,778 (GRCm39)	missense	possibly damaging	0.67
R8840:Hectd3	UTSW	4	116,855,604 (GRCm39)	missense	probably benign	0.14
R9520:Hectd3	UTSW	4	116,857,882 (GRCm39)	missense	probably damaging	0.99
R9746:Hectd3	UTSW	4	116,852,951 (GRCm39)	missense	probably damaging	1.00
Z1177:Hectd3	UTSW	4	116,855,957 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACTGCACCCCATTCCTG -3'
(R):5'- GTGAAATTGTTCAGAGCCTCCC -3'

Sequencing Primer
(F):5'- CCTGCTGGTCAGTGAGTACAGAG -3'
(R):5'- TGTTCAGAGCCTCCCAAAAGTACTG -3'

Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.

PCR Primers

R48370017_PCR_F: 5’- ATGACTGCACCCCATTCCTG-3’

R48370017_PCR_R: 5’- GTGAAATTGTTCAGAGCCTCCC-3’

Sequencing Primers

R48370017_SEQ_F: 5’- CCTGCTGGTCAGTGAGTACAGAG-3’ 

R48370017_SEQ_R: 5’- TGTTCAGAGCCTCCCAAAAGTACTG-3’ 

PCR program

1) 94°C 2:00

2) 94°C 0:30

3) 55°C 0:30

4) 72°C 1:00

5) repeat steps (2-4) 40X

6) 72°C 10:00

7) 4°C hold

The following sequence of 400 nucleotides is amplified (NCBI RefSeq: NC_000070):

7114 atgactg caccccattc ctgctggtca

7141 gtgagtacag agatgcccca gtgtacgctg aaagtagtgt ccaactttcc caggcaggct

7201 tcttcctcct ccctaggtgg cagccatgca ggcaggtctg ctgaaggtgg taccacaggc

7261 tgtgctggac ttgctgacct ggcaagagtt ggaaaagaag gtgtgtgggg acccagaggt

7321 cactgtggat gctctgcgca agctcagtga gttctaggcg atagggcagt gaagccgaag

7381 gggcggggct taaggactag cccagtgaga gctaagcatg aactcctgcc ttggcccctc

7441 cagctcggtt tgaggacttc gaaccatctg acacacgcgt gcagtacttt tgggaggctc

7501 tgaacaattt cac

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = T>A).

Posted On

2016-03-01