Mutagenetix > Incidental Mutation

Incidental Mutation 'R6321:Hecw1'

510362

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

044418-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6321 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14401023-14697813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14697414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 9 (A9T)

Ref Sequence

ENSEMBL: ENSMUSP00000152279 (fasta)

Gene Model

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

AlphaFold

Q8K4P8

Predicted Effect

probably benign
Transcript: ENSMUST00000110516

SMART Domains

Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301

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

noncoding transcript
Transcript: ENSMUST00000220479

Predicted Effect

probably benign
Transcript: ENSMUST00000221274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222904

Predicted Effect

probably benign
Transcript: ENSMUST00000223189
AA Change: A9T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223317

Predicted Effect

probably benign
Transcript: ENSMUST00000223550

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	G	T	13: 111,391,915 (GRCm39)	M83I	probably damaging	Het
Adgra2	T	A	8: 27,604,190 (GRCm39)	M460K	probably benign	Het
Aldh16a1	G	A	7: 44,799,189 (GRCm39)	A31V	probably damaging	Het
Ank2	T	C	3: 126,740,587 (GRCm39)		probably benign	Het
Arrdc4	C	A	7: 68,398,793 (GRCm39)	D8Y	probably benign	Het
Auts2	A	G	5: 131,494,953 (GRCm39)	Y110H	probably damaging	Het
Blnk	A	T	19: 40,922,903 (GRCm39)	Y405N	probably damaging	Het
Capsl	T	C	15: 9,461,855 (GRCm39)	F84L	probably damaging	Het
Cdcp3	T	C	7: 130,858,735 (GRCm39)		probably null	Het
Cenpl	T	C	1: 160,902,465 (GRCm39)	S46P	probably benign	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Chrnd	C	T	1: 87,119,951 (GRCm39)	R90C	probably damaging	Het
Cyfip2	A	T	11: 46,182,347 (GRCm39)	M37K	probably benign	Het
Dnah11	T	C	12: 118,106,027 (GRCm39)	E625G	possibly damaging	Het
Dnah5	T	G	15: 28,372,557 (GRCm39)	V2936G	probably damaging	Het
Dock9	A	G	14: 121,783,433 (GRCm39)	M2055T	probably damaging	Het
Epb41l2	A	T	10: 25,344,026 (GRCm39)	R274S	probably damaging	Het
Erich3	A	T	3: 154,433,139 (GRCm39)	H371L	probably damaging	Het
Evi5l	C	A	8: 4,253,080 (GRCm39)	P454T	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Golgb1	T	A	16: 36,738,559 (GRCm39)	C2299*	probably null	Het
Heca	G	C	10: 17,790,991 (GRCm39)		probably null	Het
Hs3st6	T	A	17: 24,977,542 (GRCm39)	W341R	probably damaging	Het
Kidins220	C	T	12: 25,107,533 (GRCm39)	S1571L	probably benign	Het
Klk1b9	A	G	7: 43,443,732 (GRCm39)	E82G	probably damaging	Het
Ltbp3	C	A	19: 5,795,685 (GRCm39)	H180Q	probably benign	Het
Mecom	A	G	3: 30,034,741 (GRCm39)	Y502H	probably damaging	Het
Mfsd2a	A	G	4: 122,843,165 (GRCm39)	V372A	probably benign	Het
Mrgprd	A	G	7: 144,875,879 (GRCm39)	D250G	probably benign	Het
Muc2	A	G	7: 141,287,397 (GRCm39)	D191G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naip6	C	A	13: 100,436,909 (GRCm39)	S538I	probably benign	Het
Or4f59	A	G	2: 111,873,113 (GRCm39)	V88A	probably benign	Het
Or52w1	A	G	7: 105,018,109 (GRCm39)	Y192C	probably damaging	Het
Pnpla6	T	C	8: 3,594,015 (GRCm39)	V1342A	probably benign	Het
Ppp1r9a	A	G	6: 5,115,151 (GRCm39)	E789G	probably damaging	Het
Prkdc	A	G	16: 15,532,783 (GRCm39)	T1471A	probably benign	Het
Scarb1	T	A	5: 125,381,395 (GRCm39)	S50C	probably damaging	Het
Slc4a8	C	T	15: 100,687,045 (GRCm39)	T283M	probably damaging	Het
Smc2	C	A	4: 52,462,814 (GRCm39)	D601E	probably benign	Het
Snx6	C	A	12: 54,798,798 (GRCm39)	V221F	probably damaging	Het
Spag17	A	C	3: 99,995,743 (GRCm39)	K1794T	probably benign	Het
Tpo	A	G	12: 30,153,107 (GRCm39)	W416R	probably damaging	Het
Ttc13	C	A	8: 125,409,930 (GRCm39)	K427N	probably damaging	Het
Upf3a	A	T	8: 13,837,466 (GRCm39)	N137I	possibly damaging	Het
Ush2a	C	T	1: 188,581,243 (GRCm39)	Q3708*	probably null	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zfp451	A	G	1: 33,852,816 (GRCm39)	F33L	probably damaging	Het
Zfp454	A	G	11: 50,763,876 (GRCm39)	F408L	probably damaging	Het
Zfp639	T	C	3: 32,571,237 (GRCm39)	Y40H	probably damaging	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
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
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'- ATTGAACCTCGCGGGAGAAG -3'
(R):5'- CTTGTTTGAGCCGCAACAC -3'

Sequencing Primer
(F):5'- CCTCGCGGGAGAAGAGAGG -3'
(R):5'- TGACGGTGGCTCTGACAATAG -3'

Posted On

2018-04-02