Mutagenetix > Incidental Mutation

Incidental Mutation 'R5113:Hecw1'

394037

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

042701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5113 (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 14520614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 208 (S208T)

Ref Sequence

ENSEMBL: ENSMUSP00000106145 (fasta)

Gene Model

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

AlphaFold

Q8K4P8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110516
AA Change: S208T

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: S208T

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: ENSMUST00000221863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223317

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,206,821 (GRCm39)	V622A	possibly damaging	Het
Ankef1	A	G	2: 136,394,361 (GRCm39)	N590S	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano3	A	T	2: 110,491,825 (GRCm39)	N867K	possibly damaging	Het
Ash1l	T	C	3: 88,973,582 (GRCm39)	V2547A	probably damaging	Het
Chil5	A	T	3: 105,925,294 (GRCm39)	V209E	possibly damaging	Het
Cltc	A	T	11: 86,613,147 (GRCm39)	C459S	probably damaging	Het
Col6a4	T	A	9: 105,944,159 (GRCm39)	D1105V	possibly damaging	Het
Cyp2c66	A	G	19: 39,151,882 (GRCm39)	D199G	probably benign	Het
Cyp4f18	A	G	8: 72,742,902 (GRCm39)		probably null	Het
Cysrt1	A	T	2: 25,129,363 (GRCm39)	C50S	possibly damaging	Het
Dapk1	A	G	13: 60,869,592 (GRCm39)	K278R	probably benign	Het
Eefsec	C	A	6: 88,258,557 (GRCm39)	S512I	probably damaging	Het
Emilin1	T	C	5: 31,077,964 (GRCm39)	F908L	possibly damaging	Het
Eml1	T	C	12: 108,503,596 (GRCm39)	V731A	possibly damaging	Het
Erc2	T	C	14: 27,374,829 (GRCm39)	S16P	probably benign	Het
Gfpt2	A	G	11: 49,714,626 (GRCm39)	R342G	probably damaging	Het
Gpr142	A	T	11: 114,695,143 (GRCm39)	Q36L	probably benign	Het
Grik5	A	G	7: 24,714,952 (GRCm39)	S681P	probably damaging	Het
Hmgcr	G	A	13: 96,793,240 (GRCm39)	A464V	probably benign	Het
Igkv2-109	A	G	6: 68,280,069 (GRCm39)	T97A	possibly damaging	Het
Ino80	G	T	2: 119,262,426 (GRCm39)	Q687K	probably damaging	Het
Kdm4d	T	C	9: 14,375,409 (GRCm39)	N150D	probably damaging	Het
Klf4	A	G	4: 55,530,481 (GRCm39)	I210T	possibly damaging	Het
Klkb1	C	A	8: 45,723,734 (GRCm39)	Q560H	probably benign	Het
Lce1a2	A	T	3: 92,576,442 (GRCm39)	V40E	unknown	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Mipol1	C	T	12: 57,543,285 (GRCm39)	T393I	probably benign	Het
Mst1	A	G	9: 107,959,446 (GRCm39)	D244G	probably damaging	Het
Nexn	G	A	3: 151,949,525 (GRCm39)	R258C	probably damaging	Het
Optc	T	C	1: 133,828,715 (GRCm39)		probably benign	Het
Or10d5	T	C	9: 39,861,221 (GRCm39)	N282S	probably damaging	Het
Or11h23	A	C	14: 50,948,371 (GRCm39)	I195L	probably benign	Het
Or6c207	A	G	10: 129,104,535 (GRCm39)	I219T	probably damaging	Het
Or7a37	A	G	10: 78,806,037 (GRCm39)	I185V	probably benign	Het
Pabpc2	C	A	18: 39,908,436 (GRCm39)	P567Q	probably benign	Het
Pierce2	T	A	9: 72,887,175 (GRCm39)	R111*	probably null	Het
Ppm1j	A	G	3: 104,691,990 (GRCm39)	H324R	possibly damaging	Het
Reg3g	A	T	6: 78,443,544 (GRCm39)		probably null	Het
Sipa1l1	C	T	12: 82,487,682 (GRCm39)	A1652V	probably benign	Het
Ski	T	C	4: 155,243,849 (GRCm39)	T554A	probably benign	Het
Slfn5	G	A	11: 82,852,522 (GRCm39)	V883M	probably benign	Het
Stradb	T	C	1: 59,030,333 (GRCm39)		probably benign	Het
Tex19.1	A	G	11: 121,038,625 (GRCm39)	T328A	probably benign	Het
Tpsab1	T	C	17: 25,564,373 (GRCm39)	N27S	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	A	T	2: 76,643,244 (GRCm39)	L13225Q	probably damaging	Het
Vmn1r28	A	G	6: 58,242,843 (GRCm39)	T229A	probably benign	Het
Wapl	A	G	14: 34,446,711 (GRCm39)	K600E	probably damaging	Het
Zfp217	T	C	2: 169,955,978 (GRCm39)		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
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'- TTCAAAGGCAATCGATCAGATGC -3'
(R):5'- TGACCAGCTTGTTGCAGATCTTTC -3'

Sequencing Primer
(F):5'- CACATCAGCTGAGGCATTTG -3'
(R):5'- GCAGATCTTTCCTGTTAACATCTCAG -3'

Posted On

2016-06-15