Mutagenetix > Incidental Mutation

Incidental Mutation 'R1735:Hecw1'

199663

Institutional Source

Beutler Lab

Gene Symbol

Hecw1

Ensembl Gene

ENSMUSG00000021301

Gene Name

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

Synonyms

NEDL1, E130207I19Rik

MMRRC Submission

039767-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14401023-14697813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14552350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 61 (M61K)

Ref Sequence

ENSEMBL: ENSMUSP00000152351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110516] [ENSMUST00000221274] [ENSMUST00000223189] [ENSMUST00000223550]

AlphaFold

Q8K4P8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110516
AA Change: M82K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: M82K

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 null
Transcript: ENSMUST00000221274
AA Change: M61K

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222904

Predicted Effect

probably benign
Transcript: ENSMUST00000223189
AA Change: M83K

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223317

Predicted Effect

probably null
Transcript: ENSMUST00000223550

Coding Region Coverage

1x: 97.6%
3x: 97.0%
10x: 95.3%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	T	12: 84,122,261 (GRCm39)	I282F	probably benign	Het
Adam19	C	A	11: 46,029,744 (GRCm39)	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,636,066 (GRCm39)	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,537,207 (GRCm39)	D316G	probably benign	Het
Ap3b1	G	A	13: 94,630,225 (GRCm39)	V827I	unknown	Het
Aph1a	T	A	3: 95,802,821 (GRCm39)	D140E	probably damaging	Het
Arhgef19	G	T	4: 140,976,929 (GRCm39)	V502L	possibly damaging	Het
Arl9	T	C	5: 77,154,473 (GRCm39)	F67S	probably damaging	Het
B430305J03Rik	G	A	3: 61,271,361 (GRCm39)		probably benign	Het
B4galnt2	A	G	11: 95,781,809 (GRCm39)	F119L	probably damaging	Het
Bcap29	T	A	12: 31,680,839 (GRCm39)	N49I	probably damaging	Het
Capn11	T	A	17: 45,943,327 (GRCm39)	K616*	probably null	Het
Cdh12	T	A	15: 21,520,452 (GRCm39)	Y306N	probably damaging	Het
Cep350	T	A	1: 155,828,960 (GRCm39)	N315Y	probably damaging	Het
Cfap300	A	C	9: 8,027,266 (GRCm39)	S91A	probably benign	Het
Cited2	C	A	10: 17,599,794 (GRCm39)	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,226,297 (GRCm39)	D2930E	probably benign	Het
Cog3	T	A	14: 75,966,761 (GRCm39)	K470*	probably null	Het
Commd10	A	G	18: 47,123,552 (GRCm39)	T136A	probably benign	Het
Csf2ra	C	A	19: 61,214,782 (GRCm39)	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,982,610 (GRCm39)	I2686F	probably damaging	Het
Dhx29	T	C	13: 113,081,620 (GRCm39)	S415P	probably benign	Het
Dsel	A	T	1: 111,788,645 (GRCm39)	F630Y	probably damaging	Het
Ell	T	A	8: 71,031,590 (GRCm39)	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,325,752 (GRCm39)	I358L	probably benign	Het
Fam162b	A	G	10: 51,463,307 (GRCm39)	I120T	probably damaging	Het
Fam187a	T	C	11: 102,776,606 (GRCm39)	Y137H	probably damaging	Het
Fastk	T	C	5: 24,646,801 (GRCm39)	E403G	probably damaging	Het
Fcrlb	C	A	1: 170,734,901 (GRCm39)	V409F	probably benign	Het
Flot2	G	T	11: 77,948,831 (GRCm39)	A269S	probably benign	Het
Gpd2	T	A	2: 57,245,563 (GRCm39)	N419K	probably damaging	Het
Htr2a	T	C	14: 74,943,568 (GRCm39)	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253 (GRCm38)	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,421,189 (GRCm39)	T125A	probably benign	Het
Klhl40	T	C	9: 121,609,004 (GRCm39)	S390P	probably benign	Het
Lonp1	G	A	17: 56,921,956 (GRCm39)	T808I	probably damaging	Het
Loxhd1	A	C	18: 77,492,585 (GRCm39)	D1342A	probably damaging	Het
Lrat	T	C	3: 82,804,417 (GRCm39)	I187V	probably benign	Het
Lrif1	T	C	3: 106,643,162 (GRCm39)	*238Q	probably null	Het
Lrp2bp	T	C	8: 46,465,025 (GRCm39)	F48S	probably benign	Het
Mafg	A	G	11: 120,520,504 (GRCm39)	M32T	possibly damaging	Het
Map4	C	T	9: 109,864,023 (GRCm39)	T416I	probably benign	Het
N4bp2	T	C	5: 65,965,659 (GRCm39)	F1236S	probably damaging	Het
Nfatc3	A	G	8: 106,810,466 (GRCm39)	D414G	probably damaging	Het
Nhsl3	G	T	4: 129,117,370 (GRCm39)	S476R	probably damaging	Het
Nrip2	T	G	6: 128,382,037 (GRCm39)	V50G	probably damaging	Het
Or10aa3	A	T	1: 173,878,365 (GRCm39)	K142I	probably benign	Het
Or10j5	A	G	1: 172,784,374 (GRCm39)	N4S	probably benign	Het
Or52ae7	T	A	7: 103,119,353 (GRCm39)	F36I	possibly damaging	Het
Or5b24	T	A	19: 12,912,207 (GRCm39)	I35N	probably damaging	Het
Pcdhb18	A	T	18: 37,623,822 (GRCm39)	H384L	probably benign	Het
Pik3r1	A	T	13: 101,822,882 (GRCm39)	Y607N	probably damaging	Het
Plagl2	G	A	2: 153,074,397 (GRCm39)	T168I	probably damaging	Het
Polr2a	A	G	11: 69,633,222 (GRCm39)	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,603,415 (GRCm39)	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,388,822 (GRCm39)	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,043,712 (GRCm39)	R470G	probably damaging	Het
Rasal2	T	C	1: 157,001,730 (GRCm39)	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 79,232,711 (GRCm39)	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,720,454 (GRCm39)	Y306C	probably benign	Het
Rtn3	T	C	19: 7,435,276 (GRCm39)	I220V	probably damaging	Het
Scn8a	A	G	15: 100,913,742 (GRCm39)	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,491,638 (GRCm39)	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,039,811 (GRCm39)	I690T	probably damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint5	A	G	4: 113,420,656 (GRCm39)	I1108T	unknown	Het
Snip1	A	G	4: 124,964,994 (GRCm39)	D133G	probably benign	Het
St3gal3	T	C	4: 117,871,971 (GRCm39)	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,982,880 (GRCm39)	V112A	probably benign	Het
Tnxb	C	T	17: 34,936,944 (GRCm39)	P3718S	probably damaging	Het
Ttc24	A	T	3: 87,980,401 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,839,473 (GRCm39)	E1529V	probably damaging	Het
Utrn	T	A	10: 12,585,882 (GRCm39)	H965L	probably benign	Het
Xrn2	T	A	2: 146,903,343 (GRCm39)	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,811,045 (GRCm39)	I401T	probably benign	Het
Zc3h14	C	T	12: 98,724,839 (GRCm39)	P167L	probably damaging	Het
Zfp609	G	T	9: 65,610,374 (GRCm39)	S863*	probably null	Het

Other mutations in Hecw1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Hecw1	APN	13	14,440,565 (GRCm39)	missense	possibly damaging	0.71
IGL00813:Hecw1	APN	13	14,452,961 (GRCm39)	critical splice acceptor site	probably null
IGL00843:Hecw1	APN	13	14,422,158 (GRCm39)	missense	probably benign	0.02
IGL00942:Hecw1	APN	13	14,515,325 (GRCm39)	splice site	probably benign
IGL00976:Hecw1	APN	13	14,493,557 (GRCm39)	missense	probably damaging	1.00
IGL01289:Hecw1	APN	13	14,438,719 (GRCm39)	missense	probably damaging	1.00
IGL01675:Hecw1	APN	13	14,409,007 (GRCm39)	missense	probably damaging	1.00
IGL01783:Hecw1	APN	13	14,452,878 (GRCm39)	missense	probably damaging	1.00
IGL01941:Hecw1	APN	13	14,490,895 (GRCm39)	missense	probably benign	0.01
IGL02170:Hecw1	APN	13	14,438,743 (GRCm39)	missense	possibly damaging	0.75
IGL02172:Hecw1	APN	13	14,438,734 (GRCm39)	missense	probably damaging	1.00
IGL02214:Hecw1	APN	13	14,474,978 (GRCm39)	missense	probably damaging	1.00
IGL02350:Hecw1	APN	13	14,422,923 (GRCm39)	splice site	probably null
IGL02357:Hecw1	APN	13	14,422,923 (GRCm39)	splice site	probably null
IGL02372:Hecw1	APN	13	14,438,706 (GRCm39)	missense	probably damaging	1.00
IGL02591:Hecw1	APN	13	14,531,821 (GRCm39)	splice site	probably benign
IGL02718:Hecw1	APN	13	14,481,520 (GRCm39)	critical splice acceptor site	probably null
IGL02795:Hecw1	APN	13	14,497,102 (GRCm39)	missense	probably damaging	1.00
IGL02941:Hecw1	APN	13	14,552,311 (GRCm39)	missense	probably damaging	1.00
IGL03256:Hecw1	APN	13	14,455,070 (GRCm39)	missense	probably benign	0.36
IGL03256:Hecw1	APN	13	14,455,069 (GRCm39)	missense	probably damaging	0.99
IGL03366:Hecw1	APN	13	14,552,382 (GRCm39)	missense	probably damaging	1.00
deflated	UTSW	13	14,422,205 (GRCm39)	missense	possibly damaging	0.69
Demoralized	UTSW	13	14,491,403 (GRCm39)	nonsense	probably null
Letdown	UTSW	13	14,491,077 (GRCm39)	missense	probably benign	0.40
BB001:Hecw1	UTSW	13	14,497,113 (GRCm39)	missense	probably damaging	1.00
BB011:Hecw1	UTSW	13	14,497,113 (GRCm39)	missense	probably damaging	1.00
IGL03014:Hecw1	UTSW	13	14,420,393 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Hecw1	UTSW	13	14,552,368 (GRCm39)	missense	probably damaging	0.98
R0555:Hecw1	UTSW	13	14,411,526 (GRCm39)	missense	probably damaging	1.00
R0617:Hecw1	UTSW	13	14,455,027 (GRCm39)	missense	probably benign	0.44
R1476:Hecw1	UTSW	13	14,480,671 (GRCm39)	missense	probably damaging	1.00
R1479:Hecw1	UTSW	13	14,491,077 (GRCm39)	missense	probably benign	0.40
R1551:Hecw1	UTSW	13	14,491,528 (GRCm39)	missense	probably damaging	1.00
R1579:Hecw1	UTSW	13	14,552,492 (GRCm39)	missense	probably damaging	1.00
R1584:Hecw1	UTSW	13	14,515,328 (GRCm39)	critical splice donor site	probably null
R1872:Hecw1	UTSW	13	14,455,034 (GRCm39)	nonsense	probably null
R1897:Hecw1	UTSW	13	14,552,525 (GRCm39)	missense	probably damaging	1.00
R2054:Hecw1	UTSW	13	14,471,998 (GRCm39)	missense	probably damaging	0.97
R2085:Hecw1	UTSW	13	14,438,672 (GRCm39)	missense	possibly damaging	0.93
R2134:Hecw1	UTSW	13	14,552,285 (GRCm39)	missense	probably damaging	1.00
R2172:Hecw1	UTSW	13	14,552,291 (GRCm39)	missense	probably damaging	1.00
R2258:Hecw1	UTSW	13	14,490,723 (GRCm39)	missense	probably benign	0.01
R2274:Hecw1	UTSW	13	14,520,653 (GRCm39)	missense	probably benign	0.00
R2275:Hecw1	UTSW	13	14,520,653 (GRCm39)	missense	probably benign	0.00
R2937:Hecw1	UTSW	13	14,420,421 (GRCm39)	missense	possibly damaging	0.93
R3830:Hecw1	UTSW	13	14,520,643 (GRCm39)	missense	probably benign	0.13
R3971:Hecw1	UTSW	13	14,411,514 (GRCm39)	missense	probably damaging	1.00
R4065:Hecw1	UTSW	13	14,491,016 (GRCm39)	missense	probably damaging	1.00
R4066:Hecw1	UTSW	13	14,491,016 (GRCm39)	missense	probably damaging	1.00
R4235:Hecw1	UTSW	13	14,491,724 (GRCm39)	missense	probably benign	0.42
R4366:Hecw1	UTSW	13	14,490,749 (GRCm39)	missense	probably damaging	1.00
R4382:Hecw1	UTSW	13	14,490,749 (GRCm39)	missense	probably damaging	1.00
R4385:Hecw1	UTSW	13	14,490,749 (GRCm39)	missense	probably damaging	1.00
R4510:Hecw1	UTSW	13	14,531,776 (GRCm39)	missense	probably damaging	1.00
R4511:Hecw1	UTSW	13	14,531,776 (GRCm39)	missense	probably damaging	1.00
R4558:Hecw1	UTSW	13	14,422,190 (GRCm39)	missense	probably damaging	0.99
R4804:Hecw1	UTSW	13	14,480,570 (GRCm39)	missense	probably benign	0.00
R4854:Hecw1	UTSW	13	14,491,477 (GRCm39)	missense	probably benign	0.00
R5104:Hecw1	UTSW	13	14,515,377 (GRCm39)	missense	probably damaging	1.00
R5113:Hecw1	UTSW	13	14,520,614 (GRCm39)	missense	possibly damaging	0.94
R5167:Hecw1	UTSW	13	14,460,242 (GRCm39)	missense	probably damaging	1.00
R5392:Hecw1	UTSW	13	14,420,347 (GRCm39)	missense	probably damaging	1.00
R5394:Hecw1	UTSW	13	14,497,174 (GRCm39)	missense	probably damaging	1.00
R5504:Hecw1	UTSW	13	14,515,487 (GRCm39)	missense	probably benign	0.04
R5764:Hecw1	UTSW	13	14,497,094 (GRCm39)	missense	probably damaging	1.00
R6038:Hecw1	UTSW	13	14,520,647 (GRCm39)	missense	probably benign	0.28
R6038:Hecw1	UTSW	13	14,520,647 (GRCm39)	missense	probably benign	0.28
R6228:Hecw1	UTSW	13	14,520,623 (GRCm39)	missense	probably damaging	1.00
R6247:Hecw1	UTSW	13	14,409,010 (GRCm39)	nonsense	probably null
R6252:Hecw1	UTSW	13	14,446,664 (GRCm39)	missense	probably damaging	0.98
R6291:Hecw1	UTSW	13	14,697,592 (GRCm39)	unclassified	probably benign
R6321:Hecw1	UTSW	13	14,697,414 (GRCm39)	missense	probably benign	0.00
R6325:Hecw1	UTSW	13	14,491,031 (GRCm39)	missense	probably damaging	1.00
R6328:Hecw1	UTSW	13	14,422,205 (GRCm39)	missense	possibly damaging	0.69
R6557:Hecw1	UTSW	13	14,491,231 (GRCm39)	missense	possibly damaging	0.78
R6566:Hecw1	UTSW	13	14,471,868 (GRCm39)	missense	probably damaging	1.00
R6597:Hecw1	UTSW	13	14,491,403 (GRCm39)	nonsense	probably null
R6821:Hecw1	UTSW	13	14,438,719 (GRCm39)	missense	probably damaging	1.00
R6914:Hecw1	UTSW	13	14,491,423 (GRCm39)	missense	probably damaging	0.99
R7078:Hecw1	UTSW	13	14,609,044 (GRCm39)	start codon destroyed	probably null	0.21
R7114:Hecw1	UTSW	13	14,486,356 (GRCm39)	missense	probably benign	0.02
R7140:Hecw1	UTSW	13	14,491,118 (GRCm39)	missense	probably benign
R7150:Hecw1	UTSW	13	14,609,045 (GRCm39)	start codon destroyed	probably benign
R7288:Hecw1	UTSW	13	14,490,821 (GRCm39)	missense	probably benign	0.00
R7447:Hecw1	UTSW	13	14,531,789 (GRCm39)	missense	probably damaging	1.00
R7479:Hecw1	UTSW	13	14,515,425 (GRCm39)	missense	probably damaging	1.00
R7552:Hecw1	UTSW	13	14,490,835 (GRCm39)	missense	probably damaging	0.99
R7590:Hecw1	UTSW	13	14,438,668 (GRCm39)	missense	probably damaging	1.00
R7787:Hecw1	UTSW	13	14,493,494 (GRCm39)	missense	probably damaging	1.00
R7803:Hecw1	UTSW	13	14,408,927 (GRCm39)	missense	probably benign	0.25
R7924:Hecw1	UTSW	13	14,497,113 (GRCm39)	missense	probably damaging	1.00
R7967:Hecw1	UTSW	13	14,552,332 (GRCm39)	missense	probably damaging	1.00
R8176:Hecw1	UTSW	13	14,422,286 (GRCm39)	splice site	probably null
R8195:Hecw1	UTSW	13	14,480,692 (GRCm39)	missense	probably damaging	0.99
R8252:Hecw1	UTSW	13	14,515,425 (GRCm39)	missense	probably damaging	1.00
R8696:Hecw1	UTSW	13	14,531,743 (GRCm39)	missense	possibly damaging	0.93
R8827:Hecw1	UTSW	13	14,438,720 (GRCm39)	missense	probably damaging	1.00
R8867:Hecw1	UTSW	13	14,422,275 (GRCm39)	critical splice acceptor site	probably null
R8914:Hecw1	UTSW	13	14,422,188 (GRCm39)	missense	probably damaging	1.00
R8942:Hecw1	UTSW	13	14,481,395 (GRCm39)	missense	probably benign	0.28
R9126:Hecw1	UTSW	13	14,546,608 (GRCm39)	missense	probably damaging	1.00
R9185:Hecw1	UTSW	13	14,491,628 (GRCm39)	missense	probably damaging	0.99
R9203:Hecw1	UTSW	13	14,491,243 (GRCm39)	missense	probably benign	0.00
R9236:Hecw1	UTSW	13	14,490,643 (GRCm39)	missense	possibly damaging	0.61
R9291:Hecw1	UTSW	13	14,491,522 (GRCm39)	missense	probably benign
R9312:Hecw1	UTSW	13	14,546,567 (GRCm39)	missense	probably damaging	0.99
R9438:Hecw1	UTSW	13	14,481,414 (GRCm39)	missense	probably benign	0.00
R9502:Hecw1	UTSW	13	14,546,567 (GRCm39)	missense	probably damaging	0.97
R9642:Hecw1	UTSW	13	14,515,394 (GRCm39)	missense	probably damaging	1.00
RF001:Hecw1	UTSW	13	14,472,009 (GRCm39)	missense	probably damaging	1.00
X0020:Hecw1	UTSW	13	14,405,308 (GRCm39)	missense	possibly damaging	0.52
X0066:Hecw1	UTSW	13	14,455,045 (GRCm39)	missense	probably benign	0.13
Z1176:Hecw1	UTSW	13	14,474,918 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- TTCACAGCACACCGTCAGACTATTC -3'
(R):5'- GTTTCACATCTCTCTGAAGGGCAGC -3'

Sequencing Primer
(F):5'- CCGTCAGACTATTCAGATGAATCAG -3'
(R):5'- CTGTACCAGAACAGGTTTTTAGGC -3'

Posted On

2014-05-23