Mutagenetix > Incidental Mutation

Incidental Mutation 'R7150:Hecw1'

554082

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

045252-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14401023-14697813 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 14609045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000152688 (fasta)

Gene Model

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

AlphaFold

Q8K4P8

Predicted Effect

probably benign
Transcript: ENSMUST00000110516
AA Change: M1L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: M1L

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: ENSMUST00000221274

Predicted Effect

probably benign
Transcript: ENSMUST00000223189

Predicted Effect

probably benign
Transcript: ENSMUST00000223550
AA Change: M1L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	T	C	8: 125,589,653 (GRCm39)	D20G	possibly damaging	Het
5430401F13Rik	T	C	6: 131,529,630 (GRCm39)	S75P	probably benign	Het
Acad8	A	T	9: 26,889,750 (GRCm39)	F315I	probably damaging	Het
Adcy5	A	G	16: 35,118,904 (GRCm39)	Y1085C	probably damaging	Het
Aldh1a7	T	C	19: 20,693,382 (GRCm39)	K179R	probably damaging	Het
Arhgap10	C	T	8: 77,977,583 (GRCm39)	G776R	probably damaging	Het
Arhgap35	A	C	7: 16,296,491 (GRCm39)	F858C	probably damaging	Het
Ash1l	C	T	3: 88,984,381 (GRCm39)	R2957W	probably damaging	Het
Atp6ap1l	G	T	13: 91,031,848 (GRCm39)	A278E	probably damaging	Het
Btn1a1	A	T	13: 23,643,521 (GRCm39)	D309E	probably damaging	Het
Casd1	C	T	6: 4,624,211 (GRCm39)	R335C	probably benign	Het
Ceacam3	A	G	7: 16,885,487 (GRCm39)	Q30R		Het
Cfap20	C	T	8: 96,148,795 (GRCm39)	C119Y	probably damaging	Het
Cntrl	A	T	2: 35,055,457 (GRCm39)		probably null	Het
Crot	A	G	5: 9,037,878 (GRCm39)	V146A	probably damaging	Het
Cx3cl1	A	G	8: 95,506,591 (GRCm39)	S199G	probably damaging	Het
Ddhd1	A	T	14: 45,895,263 (GRCm39)	L69Q	probably damaging	Het
Dnah12	T	C	14: 26,583,689 (GRCm39)	F3195L	probably damaging	Het
Dpy19l3	A	T	7: 35,408,055 (GRCm39)	D450E	probably benign	Het
Ercc3	A	T	18: 32,390,325 (GRCm39)	N538I	probably damaging	Het
Fzd1	A	T	5: 4,806,145 (GRCm39)	V479E	probably benign	Het
Gart	T	C	16: 91,425,351 (GRCm39)	Y638C	possibly damaging	Het
Gm2381	C	A	7: 42,469,888 (GRCm39)	V79L	probably benign	Het
Gucy1b1	T	C	3: 81,950,469 (GRCm39)	Y312C	probably damaging	Het
Ip6k2	A	G	9: 108,673,930 (GRCm39)	I99V	unknown	Het
Itgb5	C	T	16: 33,761,013 (GRCm39)	T616I	probably benign	Het
Kmt2c	A	C	5: 25,505,360 (GRCm39)	V3316G	possibly damaging	Het
Lama3	C	T	18: 12,601,346 (GRCm39)	R1008C	probably damaging	Het
Lin54	T	C	5: 100,633,159 (GRCm39)	D175G	possibly damaging	Het
Lrp2	A	G	2: 69,318,395 (GRCm39)	S2019P	probably damaging	Het
Lrrc9	A	G	12: 72,513,726 (GRCm39)	E528G	probably benign	Het
Lyz3	T	C	10: 117,073,647 (GRCm39)	N62S	probably benign	Het
Mto1	A	G	9: 78,364,565 (GRCm39)	H299R	probably damaging	Het
Myo19	G	A	11: 84,796,439 (GRCm39)	G684R	probably benign	Het
Or14c45	A	C	7: 86,176,322 (GRCm39)	D119A	probably damaging	Het
Or7g32	A	T	9: 19,408,145 (GRCm39)	M34L	probably benign	Het
Pcdh18	C	A	3: 49,709,143 (GRCm39)	C724F	probably benign	Het
Pcdha3	A	T	18: 37,080,165 (GRCm39)	K302N	probably benign	Het
Pcdhgb2	T	C	18: 37,825,300 (GRCm39)	F764L	possibly damaging	Het
Pik3cb	C	A	9: 98,975,143 (GRCm39)	G246W	probably damaging	Het
Polr2m	A	T	9: 71,390,626 (GRCm39)	I192N	probably damaging	Het
Polr2m	G	T	9: 71,390,815 (GRCm39)	T129K	probably benign	Het
Pramel48	A	G	5: 95,630,680 (GRCm39)	I186V	possibly damaging	Het
Ptpn4	C	T	1: 119,619,475 (GRCm39)		probably null	Het
Scgb1b19	A	T	7: 32,986,940 (GRCm39)	K30N	possibly damaging	Het
Shpk	A	G	11: 73,104,315 (GRCm39)	T155A	probably damaging	Het
Slit3	T	C	11: 35,461,546 (GRCm39)	Y261H	probably damaging	Het
Sox13	A	G	1: 133,313,243 (GRCm39)	F438L	possibly damaging	Het
Sphk1	A	T	11: 116,425,907 (GRCm39)	E61D	probably benign	Het
St18	A	G	1: 6,873,243 (GRCm39)	D326G	probably damaging	Het
Syde1	G	A	10: 78,422,032 (GRCm39)	Q566*	probably null	Het
Tacc2	A	G	7: 130,330,807 (GRCm39)	T254A	probably benign	Het
Tbc1d1	A	G	5: 64,330,827 (GRCm39)	E2G	probably damaging	Het
Trim5	A	T	7: 103,926,017 (GRCm39)	N181K	probably damaging	Het
Trpc7	A	T	13: 56,931,509 (GRCm39)	I730K	probably benign	Het
Uqcrc1	T	A	9: 108,776,926 (GRCm39)	M377K	probably benign	Het
Vmn2r4	T	C	3: 64,305,898 (GRCm39)	N508S	probably benign	Het
Vmp1	A	T	11: 86,477,402 (GRCm39)	S333T	probably benign	Het
Vps50	T	A	6: 3,578,854 (GRCm39)	M639K	possibly damaging	Het
Zfp874b	A	T	13: 67,622,622 (GRCm39)	C225*	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
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
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
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'- AAGGATCACAGTGGGGTTCTTG -3'
(R):5'- CAATTACAATTGCTCTGTGGCTG -3'

Sequencing Primer
(F):5'- GGTGAGTGATGGATCTCAAATATTG -3'
(R):5'- GTTTTCCCTTCTGGTCTAAGCAAAGG -3'

Posted On

2019-05-15