Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02372:Hecw1'

290976

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hecw1

Ensembl Gene

ENSMUSG00000021301

Gene Name

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1

Synonyms

E130207I19Rik, NEDL1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02372

Quality Score

Status

Chromosome

Chromosomal Location

14226438-14523228 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 14264121 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 892 (D892E)

Ref Sequence

ENSEMBL: ENSMUSP00000152215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110516] [ENSMUST00000220718]

Predicted Effect

probably damaging
Transcript: ENSMUST00000110516
AA Change: D1319E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: D1319E

Domain	Start	End	E-Value	Type
Pfam:HECW_N	65	184	6.5e-62	PFAM
C2	206	317	1.02e-12	SMART
low complexity region	463	477	N/A	INTRINSIC
low complexity region	497	512	N/A	INTRINSIC
low complexity region	577	598	N/A	INTRINSIC
low complexity region	677	704	N/A	INTRINSIC
low complexity region	731	745	N/A	INTRINSIC
WW	827	859	8.66e-13	SMART
coiled coil region	873	898	N/A	INTRINSIC
low complexity region	917	930	N/A	INTRINSIC
WW	1017	1049	5.59e-7	SMART
Blast:HECTc	1137	1192	3e-26	BLAST
low complexity region	1193	1208	N/A	INTRINSIC
low complexity region	1212	1223	N/A	INTRINSIC
HECTc	1267	1604	1.36e-185	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000220718
AA Change: D892E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222241

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	T	11: 97,775,699	Y54N	probably damaging	Het
Alyref	A	G	11: 120,594,875		probably benign	Het
Ankrd27	A	G	7: 35,633,036		probably null	Het
Arc	A	G	15: 74,672,105	S90P	probably damaging	Het
Atp6v1e1	T	A	6: 120,801,123	K150N	probably benign	Het
Atrn	T	C	2: 131,002,754		probably benign	Het
Ccnb1	A	G	13: 100,781,316	Y259H	probably damaging	Het
Celsr1	A	G	15: 85,929,907	V1938A	probably benign	Het
Ckmt2	A	G	13: 91,865,224	V37A	probably benign	Het
Dpys	G	T	15: 39,793,271	P467T	probably benign	Het
Ehbp1l1	T	C	19: 5,710,834	T1535A	possibly damaging	Het
Eif4enif1	T	C	11: 3,229,986	L302P	probably benign	Het
Faf1	T	G	4: 109,935,582	F584V	probably benign	Het
Glb1l2	G	A	9: 26,796,476	R72C	probably damaging	Het
Gm9892	T	C	8: 52,196,836		noncoding transcript	Het
Hr	A	G	14: 70,558,350	E474G	possibly damaging	Het
Ltbp1	T	G	17: 75,252,406	F297V	probably damaging	Het
Myc	A	G	15: 61,987,858	N127D	probably damaging	Het
Nbn	T	A	4: 15,986,613	N671K	probably benign	Het
Nup210l	C	A	3: 90,201,971	T1607N	possibly damaging	Het
Olfr281	A	T	15: 98,456,828	T173S	probably damaging	Het
Osbpl1a	T	A	18: 12,841,313	K22*	probably null	Het
Phf20l1	T	C	15: 66,641,801	L942P	probably damaging	Het
Plekhg5	C	T	4: 152,102,080	R40W	probably damaging	Het
Pomt2	C	T	12: 87,122,835		probably benign	Het
Rab3gap1	A	G	1: 127,919,561		probably benign	Het
Sbk1	T	C	7: 126,291,058	L81P	probably damaging	Het
Scrib	G	A	15: 76,048,255	P1524S	probably damaging	Het
Smpdl3a	T	A	10: 57,807,515	N240K	probably benign	Het
Smyd4	A	T	11: 75,390,285	K195*	probably null	Het
Tulp3	A	T	6: 128,327,598	M231K	possibly damaging	Het
Zfp87	A	G	13: 67,520,620		probably benign	Het

Other mutations in Hecw1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Hecw1	APN	13	14265980	missense	possibly damaging	0.71
IGL00813:Hecw1	APN	13	14278376	critical splice acceptor site	probably null
IGL00843:Hecw1	APN	13	14247573	missense	probably benign	0.02
IGL00942:Hecw1	APN	13	14340740	splice site	probably benign
IGL00976:Hecw1	APN	13	14318972	missense	probably damaging	1.00
IGL01289:Hecw1	APN	13	14264134	missense	probably damaging	1.00
IGL01675:Hecw1	APN	13	14234422	missense	probably damaging	1.00
IGL01783:Hecw1	APN	13	14278293	missense	probably damaging	1.00
IGL01941:Hecw1	APN	13	14316310	missense	probably benign	0.01
IGL02170:Hecw1	APN	13	14264158	missense	possibly damaging	0.75
IGL02172:Hecw1	APN	13	14264149	missense	probably damaging	1.00
IGL02214:Hecw1	APN	13	14300393	missense	probably damaging	1.00
IGL02350:Hecw1	APN	13	14248338	splice site	probably null
IGL02357:Hecw1	APN	13	14248338	splice site	probably null
IGL02591:Hecw1	APN	13	14357236	splice site	probably benign
IGL02718:Hecw1	APN	13	14306935	critical splice acceptor site	probably null
IGL02795:Hecw1	APN	13	14322517	missense	probably damaging	1.00
IGL02941:Hecw1	APN	13	14377726	missense	probably damaging	1.00
IGL03256:Hecw1	APN	13	14280484	missense	probably damaging	0.99
IGL03256:Hecw1	APN	13	14280485	missense	probably benign	0.36
IGL03366:Hecw1	APN	13	14377797	missense	probably damaging	1.00
deflated	UTSW	13	14247620	missense	possibly damaging	0.69
Demoralized	UTSW	13	14316818	nonsense	probably null
Letdown	UTSW	13	14316492	missense	probably benign	0.40
BB001:Hecw1	UTSW	13	14322528	missense	probably damaging	1.00
BB011:Hecw1	UTSW	13	14322528	missense	probably damaging	1.00
IGL03014:Hecw1	UTSW	13	14245808	missense	probably damaging	1.00
PIT4378001:Hecw1	UTSW	13	14377783	missense	probably damaging	0.98
R0555:Hecw1	UTSW	13	14236941	missense	probably damaging	1.00
R0617:Hecw1	UTSW	13	14280442	missense	probably benign	0.44
R1476:Hecw1	UTSW	13	14306086	missense	probably damaging	1.00
R1479:Hecw1	UTSW	13	14316492	missense	probably benign	0.40
R1551:Hecw1	UTSW	13	14316943	missense	probably damaging	1.00
R1579:Hecw1	UTSW	13	14377907	missense	probably damaging	1.00
R1584:Hecw1	UTSW	13	14340743	critical splice donor site	probably null
R1735:Hecw1	UTSW	13	14377765	missense	probably null	0.09
R1872:Hecw1	UTSW	13	14280449	nonsense	probably null
R1897:Hecw1	UTSW	13	14377940	missense	probably damaging	1.00
R2054:Hecw1	UTSW	13	14297413	missense	probably damaging	0.97
R2085:Hecw1	UTSW	13	14264087	missense	possibly damaging	0.93
R2134:Hecw1	UTSW	13	14377700	missense	probably damaging	1.00
R2172:Hecw1	UTSW	13	14377706	missense	probably damaging	1.00
R2258:Hecw1	UTSW	13	14316138	missense	probably benign	0.01
R2274:Hecw1	UTSW	13	14346068	missense	probably benign	0.00
R2275:Hecw1	UTSW	13	14346068	missense	probably benign	0.00
R2937:Hecw1	UTSW	13	14245836	missense	possibly damaging	0.93
R3830:Hecw1	UTSW	13	14346058	missense	probably benign	0.13
R3971:Hecw1	UTSW	13	14236929	missense	probably damaging	1.00
R4065:Hecw1	UTSW	13	14316431	missense	probably damaging	1.00
R4066:Hecw1	UTSW	13	14316431	missense	probably damaging	1.00
R4235:Hecw1	UTSW	13	14317139	missense	probably benign	0.42
R4366:Hecw1	UTSW	13	14316164	missense	probably damaging	1.00
R4382:Hecw1	UTSW	13	14316164	missense	probably damaging	1.00
R4385:Hecw1	UTSW	13	14316164	missense	probably damaging	1.00
R4510:Hecw1	UTSW	13	14357191	missense	probably damaging	1.00
R4511:Hecw1	UTSW	13	14357191	missense	probably damaging	1.00
R4558:Hecw1	UTSW	13	14247605	missense	probably damaging	0.99
R4804:Hecw1	UTSW	13	14305985	missense	probably benign	0.00
R4854:Hecw1	UTSW	13	14316892	missense	probably benign	0.00
R5104:Hecw1	UTSW	13	14340792	missense	probably damaging	1.00
R5113:Hecw1	UTSW	13	14346029	missense	possibly damaging	0.94
R5167:Hecw1	UTSW	13	14285657	missense	probably damaging	1.00
R5392:Hecw1	UTSW	13	14245762	missense	probably damaging	1.00
R5394:Hecw1	UTSW	13	14322589	missense	probably damaging	1.00
R5504:Hecw1	UTSW	13	14340902	missense	probably benign	0.04
R5764:Hecw1	UTSW	13	14322509	missense	probably damaging	1.00
R6038:Hecw1	UTSW	13	14346062	missense	probably benign	0.28
R6038:Hecw1	UTSW	13	14346062	missense	probably benign	0.28
R6228:Hecw1	UTSW	13	14346038	missense	probably damaging	1.00
R6247:Hecw1	UTSW	13	14234425	nonsense	probably null
R6252:Hecw1	UTSW	13	14272079	missense	probably damaging	0.98
R6291:Hecw1	UTSW	13	14523007	unclassified	probably benign
R6321:Hecw1	UTSW	13	14522829	missense	probably benign	0.00
R6325:Hecw1	UTSW	13	14316446	missense	probably damaging	1.00
R6328:Hecw1	UTSW	13	14247620	missense	possibly damaging	0.69
R6557:Hecw1	UTSW	13	14316646	missense	possibly damaging	0.78
R6566:Hecw1	UTSW	13	14297283	missense	probably damaging	1.00
R6597:Hecw1	UTSW	13	14316818	nonsense	probably null
R6821:Hecw1	UTSW	13	14264134	missense	probably damaging	1.00
R6914:Hecw1	UTSW	13	14316838	missense	probably damaging	0.99
R7078:Hecw1	UTSW	13	14434459	start codon destroyed	probably null	0.21
R7114:Hecw1	UTSW	13	14311771	missense	probably benign	0.02
R7140:Hecw1	UTSW	13	14316533	missense	probably benign
R7150:Hecw1	UTSW	13	14434460	start codon destroyed	probably benign
R7288:Hecw1	UTSW	13	14316236	missense	probably benign	0.00
R7447:Hecw1	UTSW	13	14357204	missense	probably damaging	1.00
R7479:Hecw1	UTSW	13	14340840	missense	probably damaging	1.00
R7552:Hecw1	UTSW	13	14316250	missense	probably damaging	0.99
R7590:Hecw1	UTSW	13	14264083	missense	probably damaging	1.00
R7787:Hecw1	UTSW	13	14318909	missense	probably damaging	1.00
R7803:Hecw1	UTSW	13	14234342	missense	probably benign	0.25
R7924:Hecw1	UTSW	13	14322528	missense	probably damaging	1.00
R7967:Hecw1	UTSW	13	14377747	missense	probably damaging	1.00
R8176:Hecw1	UTSW	13	14247701	splice site	probably null
R8195:Hecw1	UTSW	13	14306107	missense	probably damaging	0.99
R8252:Hecw1	UTSW	13	14340840	missense	probably damaging	1.00
R8696:Hecw1	UTSW	13	14357158	missense	possibly damaging	0.93
RF001:Hecw1	UTSW	13	14297424	missense	probably damaging	1.00
X0020:Hecw1	UTSW	13	14230723	missense	possibly damaging	0.52
X0066:Hecw1	UTSW	13	14280460	missense	probably benign	0.13
Z1176:Hecw1	UTSW	13	14300333	missense	possibly damaging	0.77

Posted On

2015-04-16