Mutagenetix > Incidental Mutation

Incidental Mutation 'R5910:Hectd3'

460908

Institutional Source

Beutler Lab

Gene Symbol

Hectd3

Ensembl Gene

ENSMUSG00000046861

Gene Name

HECT domain E3 ubiquitin protein ligase 3

Synonyms

1700064K09Rik

MMRRC Submission

044107-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5910 (G1)

Quality Score

134

Status

Validated

Chromosome

Chromosomal Location

116995317-117005277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117002134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 652 (M652V)

Ref Sequence

ENSEMBL: ENSMUSP00000051922 (fasta)

Gene Model

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

AlphaFold

Q3U487

Predicted Effect

probably benign
Transcript: ENSMUST00000050067
AA Change: M652V

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: M652V

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

0.0788

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

95% (93/98)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,668,117	N976D	probably damaging	Het
Adamts1	G	A	16: 85,802,149	R188W	probably benign	Het
Adcy4	A	T	14: 55,779,013	V327D	probably damaging	Het
Alg8	T	C	7: 97,390,286	I408T	possibly damaging	Het
Ankib1	T	C	5: 3,693,217	S933G	probably benign	Het
Ap2a2	A	G	7: 141,598,778	D106G	probably damaging	Het
Arhgap22	A	T	14: 33,366,615	H351L	probably damaging	Het
Arhgef2	A	G	3: 88,635,020	Y310C	probably damaging	Het
Atm	A	T	9: 53,448,080	S2804R	probably damaging	Het
Baz2b	A	G	2: 59,977,426	L163P	possibly damaging	Het
Bcl2l12	C	T	7: 44,996,543		probably null	Het
Cdh23	A	G	10: 60,377,821	V1495A	possibly damaging	Het
Cep78	A	G	19: 15,969,128	S447P	possibly damaging	Het
Cfap43	G	A	19: 47,780,271	T778I	possibly damaging	Het
Cfap54	A	T	10: 93,065,181	N170K	probably damaging	Het
Cmya5	A	T	13: 93,092,643	L1979Q	probably damaging	Het
Col15a1	A	T	4: 47,289,514	E846D	probably damaging	Het
Col5a1	A	G	2: 28,036,888	K308E	possibly damaging	Het
Dcst1	T	A	3: 89,350,424	T680S	possibly damaging	Het
Dsp	T	C	13: 38,192,469	L1410P	possibly damaging	Het
Edem3	T	A	1: 151,770,827		probably null	Het
Eif4e2	T	A	1: 87,220,974	Y64N	probably damaging	Het
Fcgbp	C	T	7: 28,085,503		probably benign	Het
Gm11639	A	T	11: 104,690,934	E34V	probably benign	Het
Gm7275	A	T	16: 48,073,463		noncoding transcript	Het
Grin3b	G	T	10: 79,973,021	V202L	probably benign	Het
Gsdmc4	G	A	15: 63,895,252	S223F	possibly damaging	Het
Hbp1	T	C	12: 31,937,652	H183R	probably benign	Het
Hist1h2bm	A	G	13: 21,722,300	N68S	probably benign	Het
Hmgxb4	T	C	8: 74,999,565	F13L	probably benign	Het
Hnrnpab	T	C	11: 51,601,454	K271R	probably benign	Het
Ilvbl	A	T	10: 78,577,113	K156N	probably benign	Het
Iqce	A	T	5: 140,702,218		probably benign	Het
Itpr2	C	A	6: 146,329,571	V1194L	probably benign	Het
Kif18b	A	G	11: 102,913,544	F384L	probably benign	Het
Klf14	A	G	6: 30,957,839	Y287H	probably benign	Het
Klhl6	A	G	16: 19,957,094	M238T	probably benign	Het
Lbp	G	A	2: 158,324,557	V344I	probably benign	Het
Lrp12	T	C	15: 39,876,043		probably null	Het
Mapk7	T	A	11: 61,493,621	M1L	probably benign	Het
Muc5b	A	G	7: 141,861,311	T2665A	possibly damaging	Het
Ncln	A	T	10: 81,496,078		probably null	Het
Nfxl1	T	C	5: 72,540,365	R347G	probably benign	Het
Npnt	C	A	3: 132,906,418	C231F	probably damaging	Het
Nrap	T	A	19: 56,342,311	H1070L	probably benign	Het
Nrxn1	G	T	17: 90,704,318	Y294*	probably null	Het
Olfr1261	A	G	2: 89,993,438	D15G	probably benign	Het
Olfr1412	T	C	1: 92,588,707	Y126H	probably damaging	Het
Otog	A	G	7: 46,298,598	H2341R	possibly damaging	Het
Paqr3	T	C	5: 97,096,028		probably null	Het
Pcdhb11	T	C	18: 37,423,743	F709L	probably benign	Het
Phf12	G	A	11: 78,027,398	R812Q	probably damaging	Het
Polr2a	A	T	11: 69,746,870	L216Q	probably damaging	Het
Polrmt	A	G	10: 79,743,497	L140P	probably benign	Het
Pou2f3	C	T	9: 43,134,474		probably null	Het
Prkcd	A	T	14: 30,595,981	N548K	probably benign	Het
Pygb	A	G	2: 150,815,700	D361G	probably benign	Het
Rpl9	A	T	5: 65,388,701		probably benign	Het
Rubcnl	A	T	14: 75,035,472	T211S	probably benign	Het
Rusc1	C	T	3: 89,091,720	G252S	probably benign	Het
Scnn1g	A	G	7: 121,738,095	T60A	probably damaging	Het
Sipa1l2	T	G	8: 125,491,684	T305P	probably benign	Het
Slc18b1	T	A	10: 23,824,667		probably benign	Het
Sp100	G	A	1: 85,681,140		probably null	Het
Tekt5	A	T	16: 10,387,153		probably null	Het
Tlnrd1	T	A	7: 83,884,485		probably benign	Het
Tpcn1	A	G	5: 120,547,397		probably benign	Het
Tpcn2	T	C	7: 145,260,982	I461V	probably benign	Het
Traf3ip1	A	G	1: 91,527,745	K643E	probably damaging	Het
Trim33	T	C	3: 103,344,576	C914R	probably damaging	Het
Trip11	G	A	12: 101,883,479	T1442I	probably damaging	Het
Ttll6	A	G	11: 96,135,589	M107V	possibly damaging	Het
Uap1l1	A	G	2: 25,363,433		probably benign	Het
Ube3b	T	A	5: 114,415,309	I914N	possibly damaging	Het
Usp24	A	G	4: 106,380,468	T1107A	probably damaging	Het
Usp40	A	T	1: 87,968,400	C811*	probably null	Het
Vps11	T	C	9: 44,359,135		probably null	Het
Wdr91	A	T	6: 34,891,487	I433N	possibly damaging	Het
Zfp770	G	C	2: 114,196,232	S452*	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
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
R9520:Hectd3	UTSW	4	117000685	missense	probably damaging	0.99
R9746:Hectd3	UTSW	4	116995754	missense	probably damaging	1.00
Z1177:Hectd3	UTSW	4	116998760	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAGATGTTCTGTCTCCCAAC -3'
(R):5'- TCATGGAAGCCAGCATCAGG -3'

Sequencing Primer
(F):5'- AACTTCCCTTGCGGCCAAG -3'
(R):5'- CAGCATCAGGGTGGATATTGGTC -3'

Posted On

2017-02-28