Mutagenetix > Incidental Mutation

Incidental Mutation 'RF001:Hecw1'

602521

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14401023-14697813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 14472009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 553 (C553F)

Ref Sequence

ENSEMBL: ENSMUSP00000152215 (fasta)

Gene Model

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

AlphaFold

Q8K4P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000110516
AA Change: C980F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: C980F

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 damaging
Transcript: ENSMUST00000220718
AA Change: C553F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	G	GTGGCTGCTA	1: 82,891,311 (GRCm39)		probably benign	Het
Acer1	A	G	17: 57,265,909 (GRCm39)	V122A	probably benign	Het
Adam34l	T	G	8: 44,079,942 (GRCm39)	D94A	possibly damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,974 (GRCm39)		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,479,405 (GRCm39)		probably benign	Het
Atp13a1	C	A	8: 70,252,720 (GRCm39)	A680D	probably damaging	Het
Blm	CGCCTCCTCCTC	CGCCTCCTCCTCAGCCTCCTCCTC	7: 80,162,651 (GRCm39)		probably benign	Het
Blm	CTCCTCC	CTCCTCCTCCTCGTCCTCC	7: 80,162,675 (GRCm39)		probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC	7: 80,162,654 (GRCm39)		probably benign	Het
Cad	GT	G	5: 31,217,556 (GRCm39)		probably benign	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,129,715 (GRCm39)		probably benign	Het
Casz1	CACA	C	4: 149,036,761 (GRCm39)		probably benign	Het
Cherp	GACCTGGA	G	8: 73,215,893 (GRCm39)		probably null	Het
Chga	AGC	AGCTGC	12: 102,527,682 (GRCm39)		probably benign	Het
Coq7	A	G	7: 118,132,405 (GRCm39)	S24P	probably benign	Het
Cul1	T	C	6: 47,501,515 (GRCm39)	V734A	possibly damaging	Het
Cyb5r4	GCCCAGGGATGTGACAGACACACT	GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT	9: 86,922,469 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,770,286 (GRCm39)	F521I	possibly damaging	Het
Fam171b	GCAGCA	GCAGCATCAGCA	2: 83,643,230 (GRCm39)		probably benign	Het
Fat1	T	G	8: 45,442,003 (GRCm39)	S1102A	probably benign	Het
Gab3	CTT	CTTTTT	X: 74,043,624 (GRCm39)		probably benign	Het
Gm14412	T	C	2: 177,008,894 (GRCm39)	I52V	probably benign	Het
Gm5414	T	C	15: 101,536,388 (GRCm39)	E79G	probably benign	Het
Gpc5	G	A	14: 115,654,590 (GRCm39)	S470N	probably benign	Het
Grin2b	A	G	6: 136,021,238 (GRCm39)	V21A	probably benign	Het
Hsd3b6	T	A	3: 98,713,756 (GRCm39)	H181L	probably benign	Het
Il2	CCAGGTGCTGCTGC	CC	3: 37,179,911 (GRCm39)		probably benign	Het
Inpp5f	G	A	7: 128,296,807 (GRCm39)	G1053R	probably damaging	Het
Kcnma1	T	G	14: 23,361,765 (GRCm39)	Y1142S	probably damaging	Het
Kctd8	T	C	5: 69,267,775 (GRCm39)	K445R	possibly damaging	Het
Kmt2b	CC	CCTCCTTC	7: 30,285,807 (GRCm39)		probably benign	Het
Kmt2c	TG	TGTTGCGG	5: 25,520,773 (GRCm39)		probably benign	Het
Krtap28-10	CACCAC	CACCACCGCCACCGCAACCAC	1: 83,020,003 (GRCm39)		probably benign	Het
Krtap28-10	CACAGCCACAGCCACCACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC	1: 83,019,976 (GRCm39)		probably benign	Het
Krtap28-10	GCCACCACAGC	GCCACCACAGCCACATCCACCACAGC	1: 83,020,001 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,059,897 (GRCm39)	D662G		Het
Lce1m	AC	ACTGCTGCTGCCCC	3: 92,925,459 (GRCm39)		probably benign	Het
Lce1m	GCTGCCACC	GCTGCCACCACTCCTGCCACC	3: 92,925,576 (GRCm39)		probably benign	Het
Lmo4	A	C	3: 143,907,623 (GRCm39)	S63A	possibly damaging	Het
Lrrk2	T	C	15: 91,620,836 (GRCm39)	I952T	probably benign	Het
Lyst	T	C	13: 13,810,426 (GRCm39)	F699L	probably benign	Het
Matn3	T	A	12: 9,008,797 (GRCm39)	D303E	probably benign	Het
Me1	A	G	9: 86,464,876 (GRCm39)	Y545H	probably damaging	Het
Mettl3	A	T	14: 52,537,756 (GRCm39)	V68E	probably benign	Het
Mptx2	T	C	1: 173,102,536 (GRCm39)	N51S	probably benign	Het
Mylk	A	G	16: 34,699,741 (GRCm39)	D368G	probably benign	Het
Myom2	T	C	8: 15,131,418 (GRCm39)	V372A	possibly damaging	Het
Neb	T	C	2: 52,085,433 (GRCm39)	D5569G	probably damaging	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,030 (GRCm39)		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,001,061 (GRCm39)		probably benign	Het
Pop1	G	A	15: 34,502,583 (GRCm39)	G90D	probably damaging	Het
Rbm12	CC	CCGGGTATTGTGGGACCAGTTATTGCGGGAGC	2: 155,937,995 (GRCm39)		probably benign	Het
Sertad4	T	C	1: 192,529,486 (GRCm39)	Y110C	probably damaging	Het
Setd1a	GGTAGTGGT	GGTAGTGGTAGTAGTGGT	7: 127,384,486 (GRCm39)		probably benign	Het
Smarca2	AGC	AGCCCCGGC	19: 26,608,421 (GRCm39)		probably benign	Het
Smarca2	ACA	ACAACAGCA	19: 26,608,386 (GRCm39)		probably benign	Het
Supt20	AGCA	AGCACCCGCA	3: 54,635,083 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,968,811 (GRCm39)		probably benign	Het
Tecpr1	A	G	5: 144,154,204 (GRCm39)	F83S	probably damaging	Het
Triobp	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	15: 78,851,227 (GRCm39)		probably benign	Het
Vmn1r48	A	T	6: 90,013,186 (GRCm39)	M213K	probably benign	Het
Zc3h4	CCC	CCCTGACATGCATCC	7: 16,163,612 (GRCm39)		probably benign	Het
Zscan29	T	C	2: 120,994,477 (GRCm39)	N503D	possibly 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
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
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'- TGGTGACAGCCCCACATATTG -3'
(R):5'- CGACTATGCCTAGAGGAGTTG -3'

Sequencing Primer
(F):5'- GTGACAGCCCCACATATTGATTATTC -3'
(R):5'- CCTTGTTGAGCACTGCTTCTAAAG -3'

Posted On

2019-12-04