Mutagenetix > Incidental Mutations

Incidental Mutation 'R7471:Hectd3'

579179

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 #

R7471 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116995317-117005277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116996588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 227 (Y227F)

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 benign
Transcript: ENSMUST00000050067
AA Change: Y227F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
AA Change: Y227F

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	C	19: 29,729,739		probably null	Het
Acaca	T	A	11: 84,277,782		probably null	Het
Ace	T	C	11: 105,973,482	V483A	probably damaging	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Angptl2	A	T	2: 33,243,739	T358S	possibly damaging	Het
Apoh	C	T	11: 108,407,305	P144S	probably damaging	Het
Arid1a	A	G	4: 133,681,044	W1666R	unknown	Het
Asap3	A	G	4: 136,233,646	H223R	possibly damaging	Het
Bcl2l12	A	G	7: 44,996,553	S81P	possibly damaging	Het
C8a	A	G	4: 104,817,625	S550P	probably benign	Het
Cacna2d1	C	G	5: 15,934,975		probably benign	Het
Ccdc170	A	G	10: 4,520,803	T216A	probably benign	Het
Chd7	A	T	4: 8,859,197	K2429I	probably damaging	Het
Chd8	T	C	14: 52,204,112	N2181S	probably benign	Het
Clip3	T	C	7: 30,301,952	V342A	possibly damaging	Het
Cst10	C	T	2: 149,405,576	L71F	probably benign	Het
Cyp20a1	T	C	1: 60,354,640	F139S	probably damaging	Het
Dclre1b	T	A	3: 103,803,114	R494W	probably benign	Het
Dicer1	A	G	12: 104,694,710	I1695T	probably damaging	Het
Dnah7a	A	G	1: 53,419,699	L3760P	probably damaging	Het
Dock1	A	G	7: 135,163,343	D1688G	possibly damaging	Het
Drosha	G	A	15: 12,889,656	R870Q	probably damaging	Het
Dsg2	G	T	18: 20,580,618	M215I	probably benign	Het
Dst	A	T	1: 34,194,570	D3453V	possibly damaging	Het
Epha10	A	T	4: 124,902,572	Y358F		Het
Ermp1	A	T	19: 29,612,654	M853K	probably benign	Het
Hace1	T	G	10: 45,700,979	I823S	probably benign	Het
Hells	A	G	19: 38,957,057	N580S	probably benign	Het
Igkv12-44	A	G	6: 69,814,734	F82L	probably damaging	Het
Inpp5d	A	G	1: 87,695,400	D405G	probably damaging	Het
Itsn2	G	A	12: 4,708,198	R1508H	probably benign	Het
Limk1	A	T	5: 134,657,971		probably null	Het
Lingo1	T	A	9: 56,620,883	K147*	probably null	Het
Ltn1	T	C	16: 87,397,899	S1371G	probably benign	Het
Mab21l1	A	G	3: 55,783,886	D298G	possibly damaging	Het
Macf1	A	T	4: 123,472,289	V2893E	probably benign	Het
Mapk8ip1	T	C	2: 92,389,144	D114G	probably benign	Het
Med15	A	T	16: 17,722,865	W6R	probably benign	Het
Mrps34	T	C	17: 24,895,457	L97P	probably damaging	Het
Myrfl	A	T	10: 116,861,512	F36I	possibly damaging	Het
Nifk	G	A	1: 118,332,474	S253N	probably damaging	Het
Nmnat1	T	A	4: 149,473,301	T95S	probably damaging	Het
Oasl1	T	A	5: 114,935,926	I298N	probably damaging	Het
Odf3l1	C	T	9: 56,852,499		probably null	Het
Olfr570	A	G	7: 102,900,553	Y62C	probably benign	Het
Olfr689	T	G	7: 105,314,505	L167R	probably damaging	Het
Olfr970	A	T	9: 39,820,127	M163L	probably benign	Het
Polr2b	C	T	5: 77,321,066	R230*	probably null	Het
Prkra	T	A	2: 76,647,201	E53D	probably benign	Het
Rasgrp4	T	A	7: 29,145,980	L376Q	probably damaging	Het
Rwdd3	A	G	3: 121,171,312	S65P	probably benign	Het
Satb1	G	A	17: 51,783,001	P273S	probably damaging	Het
Scg3	T	C	9: 75,682,092	E93G	probably damaging	Het
Sf3a1	T	C	11: 4,167,724	F162S	possibly damaging	Het
Sorcs1	A	G	19: 50,262,263	Y377H	probably damaging	Het
Sptbn4	G	A	7: 27,409,014	A661V	possibly damaging	Het
Stk36	A	G	1: 74,634,320	N996S	unknown	Het
Tbca	A	T	13: 94,832,415	I37F	probably damaging	Het
Tc2n	A	T	12: 101,706,457	V75E	probably damaging	Het
Tdrkh	A	T	3: 94,425,956	S243C	probably damaging	Het
Tjp1	T	C	7: 65,314,690	D911G	probably damaging	Het
Tmbim6	A	G	15: 99,401,443		probably benign	Het
Tob1	T	A	11: 94,213,882	D81E	probably benign	Het
Ttpal	T	A	2: 163,607,025		probably null	Het
Usp37	A	T	1: 74,495,628		probably null	Het
Vmn1r235	A	G	17: 21,262,396	I328V	probably benign	Het
Vmn1r28	T	A	6: 58,265,865	L231*	probably null	Het
Xirp1	G	A	9: 120,019,110	Q236*	probably null	Het
Zc3h7b	A	G	15: 81,780,481	T514A	probably damaging	Het
Zfp524	A	G	7: 5,018,201	I243V	probably benign	Het
Zfp655	T	A	5: 145,244,732	Y467N	possibly damaging	Het
Zfp985	A	T	4: 147,582,931	K85N	possibly damaging	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
R7444:Hectd3	UTSW	4	116996927	missense	possibly damaging	0.48
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'- ACCTATTCACATCGCCTGGG -3'
(R):5'- GGACTAAGTATGGTCTATGGGGAC -3'

Sequencing Primer
(F):5'- TGGGATCCAGGCCTCAG -3'
(R):5'- GGGACATGGGTTTGGCC -3'

Posted On

2019-10-07