Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01941:Hecw1'

181167

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01941

Quality Score

Status

Chromosome

Chromosomal Location

14226438-14523228 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14316310 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 699 (Y699C)

Ref Sequence

ENSEMBL: ENSMUSP00000106145 (fasta)

Gene Model

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

AlphaFold

Q8K4P8

Predicted Effect

probably benign
Transcript: ENSMUST00000110516
AA Change: Y699C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: Y699C

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 benign
Transcript: ENSMUST00000220718
AA Change: Y286C

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222241

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,044,801	L123Q	probably benign	Het
Abca2	C	T	2: 25,443,095	S1602F	probably benign	Het
Abcc9	C	A	6: 142,605,904	C1191F	probably damaging	Het
Adam3	G	T	8: 24,681,446		probably benign	Het
Aldh1l1	G	T	6: 90,562,695	G202V	probably damaging	Het
Ankrd46	T	C	15: 36,485,937	N57D	possibly damaging	Het
Asic1	A	T	15: 99,699,101	H548L	possibly damaging	Het
Atpaf2	A	G	11: 60,403,898	I233T	probably benign	Het
Ccdc129	A	G	6: 55,968,045	R584G	probably benign	Het
Ccdc185	G	T	1: 182,748,204	Q307K	probably benign	Het
Cep120	T	C	18: 53,723,148	D399G	probably benign	Het
Cnn2	G	A	10: 79,992,554	V122M	probably benign	Het
Dgkd	T	C	1: 87,924,559	S472P	probably damaging	Het
Dock5	A	C	14: 67,812,232	I701S	probably damaging	Het
Efl1	A	G	7: 82,697,976	E570G	probably benign	Het
Eln	G	A	5: 134,718,170		probably benign	Het
Fat2	A	G	11: 55,312,005	V81A	probably benign	Het
Fbxw21	T	G	9: 109,148,156	I162L	probably benign	Het
Fhl2	G	A	1: 43,131,672	Q161*	probably null	Het
Gabrg2	A	G	11: 41,971,721	Y179H	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm7714	A	G	5: 88,282,442	S66G	probably benign	Het
Grik5	A	T	7: 25,065,182	I152N	probably damaging	Het
H2-Ab1	A	T	17: 34,267,434	K156*	probably null	Het
Ipo9	A	C	1: 135,408,073	V202G	possibly damaging	Het
Jmjd6	A	T	11: 116,841,358		probably null	Het
Lama5	A	G	2: 180,192,392	I1416T	possibly damaging	Het
Matn1	T	C	4: 130,952,261		probably benign	Het
Mavs	T	C	2: 131,246,605	V443A	probably damaging	Het
Mpdz	A	T	4: 81,286,387	S1798R	possibly damaging	Het
Muc6	A	C	7: 141,638,584	S2059A	probably benign	Het
Olfr1251	A	T	2: 89,667,468	C139*	probably null	Het
Otud7b	G	T	3: 96,155,459	G672C	probably benign	Het
Palld	T	A	8: 61,535,700	T572S	probably benign	Het
Pde6b	T	A	5: 108,423,036	V379E	probably benign	Het
Peak1	A	G	9: 56,258,775	V623A	probably damaging	Het
Prr12	C	T	7: 45,048,659		probably benign	Het
Rxra	T	C	2: 27,754,241	I315T	probably damaging	Het
Slc11a1	C	T	1: 74,377,179	A55V	probably damaging	Het
Slitrk3	T	C	3: 73,051,071	N123D	possibly damaging	Het
Spcs1	A	G	14: 31,000,872	M82T	probably damaging	Het
Sspo	A	G	6: 48,495,182	E113G	probably benign	Het
Syne2	A	G	12: 75,967,220	K3062E	probably benign	Het
Traf3ip2	T	C	10: 39,634,660	S310P	probably benign	Het
Ubp1	T	C	9: 113,956,758	L167S	probably damaging	Het
Vmn1r196	T	A	13: 22,293,699	C169*	probably null	Het
Vmn1r223	T	A	13: 23,250,237	F334I	possibly damaging	Het
Vmn2r10	A	T	5: 108,995,954	I710N	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wdr26	A	G	1: 181,211,070		probably benign	Het
Wnt7a	A	G	6: 91,394,663	F106L	probably benign	Het
Zfp940	C	T	7: 29,846,870	V34M	probably damaging	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
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
IGL02372:Hecw1	APN	13	14264121	missense	probably damaging	1.00
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
R8827:Hecw1	UTSW	13	14264135	missense	probably damaging	1.00
R8867:Hecw1	UTSW	13	14247690	critical splice acceptor site	probably null
R8914:Hecw1	UTSW	13	14247603	missense	probably damaging	1.00
R8942:Hecw1	UTSW	13	14306810	missense	probably benign	0.28
R9126:Hecw1	UTSW	13	14372023	missense	probably damaging	1.00
R9185:Hecw1	UTSW	13	14317043	missense	probably damaging	0.99
R9203:Hecw1	UTSW	13	14316658	missense	probably benign	0.00
R9236:Hecw1	UTSW	13	14316058	missense	possibly damaging	0.61
R9291:Hecw1	UTSW	13	14316937	missense	probably benign
R9312:Hecw1	UTSW	13	14371982	missense	probably damaging	0.99
R9438:Hecw1	UTSW	13	14306829	missense	probably benign	0.00
R9502:Hecw1	UTSW	13	14371982	missense	probably damaging	0.97
R9642:Hecw1	UTSW	13	14340809	missense	probably damaging	1.00
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

2014-05-07