Mutagenetix > Incidental Mutation

Incidental Mutation 'R4235:Hecw1'

321083

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

041052-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4235 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14401023-14697813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 14491724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 423 (A423P)

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: A423P

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: A423P

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: A10P

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223317

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
5730596B20Rik	G	T	6: 52,155,941 (GRCm39)		probably benign	Het
Akap6	T	A	12: 53,186,454 (GRCm39)	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,891,948 (GRCm39)	V161A	probably damaging	Het
Arhgef18	T	C	8: 3,500,317 (GRCm39)	I541T	possibly damaging	Het
Atp7b	A	G	8: 22,501,039 (GRCm39)	Y955H	possibly damaging	Het
Bnc2	A	G	4: 84,211,751 (GRCm39)	V231A	probably damaging	Het
Bod1l	A	G	5: 41,978,798 (GRCm39)	S839P	probably damaging	Het
Casp8	T	A	1: 58,872,857 (GRCm39)	H264Q	possibly damaging	Het
Cc2d1b	A	T	4: 108,482,549 (GRCm39)		probably benign	Het
Cpne6	A	T	14: 55,751,057 (GRCm39)		probably benign	Het
Ddx1	C	T	12: 13,273,858 (GRCm39)	V590I	possibly damaging	Het
Dgkd	T	A	1: 87,859,704 (GRCm39)	L774*	probably null	Het
Fbxl2	T	A	9: 113,818,231 (GRCm39)	N205I	probably benign	Het
Fcgbpl1	T	A	7: 27,856,073 (GRCm39)	D1953E	probably damaging	Het
Fkbp15	A	T	4: 62,254,693 (GRCm39)	I269K	probably benign	Het
Gm26678	T	C	3: 54,540,504 (GRCm39)		noncoding transcript	Het
Has1	G	T	17: 18,070,298 (GRCm39)	R208S	possibly damaging	Het
Hspa12b	T	C	2: 130,980,932 (GRCm39)	V162A	probably benign	Het
Ifi208	T	G	1: 173,510,477 (GRCm39)	S211A	probably benign	Het
Ighv6-3	T	C	12: 114,355,494 (GRCm39)	E65G	probably damaging	Het
Igkv9-120	A	T	6: 68,027,317 (GRCm39)	D77V	probably benign	Het
Impg1	A	G	9: 80,252,611 (GRCm39)	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kdm2a	A	G	19: 4,372,549 (GRCm39)	I932T	probably damaging	Het
Krt17	T	C	11: 100,148,694 (GRCm39)	T279A	possibly damaging	Het
Lamp1	T	C	8: 13,217,192 (GRCm39)	V67A	possibly damaging	Het
Limk1	T	C	5: 134,699,332 (GRCm39)	I142V	probably benign	Het
Mamdc2	T	C	19: 23,351,381 (GRCm39)	N182D	possibly damaging	Het
Mcpt1	G	A	14: 56,256,017 (GRCm39)		probably null	Het
Med12l	T	G	3: 59,164,644 (GRCm39)		probably null	Het
Mfsd10	G	T	5: 34,792,969 (GRCm39)	T44N	probably damaging	Het
Mrps27	T	C	13: 99,541,549 (GRCm39)	S218P	probably damaging	Het
Mrps30	T	C	13: 118,523,376 (GRCm39)	D132G	probably damaging	Het
Neil2	A	C	14: 63,429,290 (GRCm39)	M1R	probably null	Het
Nelfcd	T	C	2: 174,268,841 (GRCm39)	F587L	probably damaging	Het
Nfil3	T	C	13: 53,122,835 (GRCm39)	D23G	probably benign	Het
Nit2	T	C	16: 56,977,523 (GRCm39)	K169R	probably benign	Het
Nxt1	T	C	2: 148,517,267 (GRCm39)	S3P	probably benign	Het
Ogt	A	G	X: 100,711,131 (GRCm39)	N434D	probably damaging	Het
Or56a3	T	A	7: 104,734,994 (GRCm39)	S24T	possibly damaging	Het
Pcdhga5	A	G	18: 37,829,001 (GRCm39)	D483G	possibly damaging	Het
Pramel25	G	C	4: 143,521,344 (GRCm39)	C320S	probably damaging	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rsl1	T	C	13: 67,325,226 (GRCm39)		probably null	Het
Sobp	G	A	10: 42,898,896 (GRCm39)	H230Y	probably damaging	Het
Sptan1	A	G	2: 29,916,600 (GRCm39)	E2096G	probably damaging	Het
Tie1	G	T	4: 118,335,602 (GRCm39)	S797*	probably null	Het
Tmem266	T	C	9: 55,325,391 (GRCm39)	I186T	probably damaging	Het
Tmem38b	T	C	4: 53,840,710 (GRCm39)	C66R	probably damaging	Het
Tnfaip6	T	C	2: 51,940,876 (GRCm39)	F139S	probably damaging	Het
Tnrc6a	T	C	7: 122,770,903 (GRCm39)	S898P	probably benign	Het
Trim24	A	G	6: 37,941,675 (GRCm39)	D911G	probably damaging	Het
Tyw5	T	C	1: 57,427,647 (GRCm39)		probably benign	Het
Ubr3	C	T	2: 69,846,729 (GRCm39)	Q1651*	probably null	Het
Unc13c	T	A	9: 73,438,234 (GRCm39)	I1943F	possibly damaging	Het
Usp47	T	A	7: 111,709,255 (GRCm39)	S1334T	probably damaging	Het
Vmn1r215	T	A	13: 23,260,101 (GRCm39)	V47E	probably benign	Het
Vmn1r224	T	A	17: 20,639,624 (GRCm39)	M67K	possibly damaging	Het
Wdfy3	T	A	5: 102,070,500 (GRCm39)		probably null	Het
Zfc3h1	T	C	10: 115,254,704 (GRCm39)	Y1433H	probably benign	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
R1735:Hecw1	UTSW	13	14,552,350 (GRCm39)	missense	probably null	0.09
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
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'- AGAGCTGTATTCTCTTCTGGCAAC -3'
(R):5'- TGCCCACAGATGATGAAGAGATC -3'

Sequencing Primer
(F):5'- CAACAGCGAGGATGGCGAATC -3'
(R):5'- AGATCTCTCTGAGTGCTGAGCC -3'

Posted On

2015-06-12