Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4378001:Hecw1'

555018

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 #

PIT4378001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14401023-14697813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14552368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 77 (D77G)

Ref Sequence

ENSEMBL: ENSMUSP00000152279 (fasta)

Gene Model

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

AlphaFold

Q8K4P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000110516
AA Change: D76G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: D76G

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: ENSMUST00000221274
AA Change: D55G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223189
AA Change: D77G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000223550

Coding Region Coverage

1x: 93.1%
3x: 90.8%
10x: 85.0%
20x: 72.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	T	C	11: 59,099,802 (GRCm39)	V100A	probably benign	Het
Adamtsl1	T	C	4: 86,117,601 (GRCm39)	V188A	possibly damaging	Het
Aldh6a1	T	C	12: 84,488,646 (GRCm39)	D80G	probably benign	Het
Ankrd50	T	C	3: 38,509,412 (GRCm39)	Q62R	possibly damaging	Het
Aopep	T	C	13: 63,163,021 (GRCm39)	L14P	probably damaging	Het
Arrdc1	T	A	2: 24,816,645 (GRCm39)	Y177F	probably damaging	Het
Asap1	C	T	15: 64,007,697 (GRCm39)	R384Q	probably damaging	Het
Atxn2l	A	T	7: 126,096,443 (GRCm39)	V433D	probably benign	Het
Bbs1	G	A	19: 4,941,703 (GRCm39)	A529V	probably benign	Het
Bbx	G	A	16: 50,100,836 (GRCm39)	R20*	probably null	Het
Bend5	T	C	4: 111,288,304 (GRCm39)	V106A	probably benign	Het
C1galt1	A	G	6: 7,863,944 (GRCm39)	N8S	probably benign	Het
Cdc42ep1	G	A	15: 78,733,880 (GRCm39)	D327N	possibly damaging	Het
Cep162	A	G	9: 87,099,198 (GRCm39)	S767P	probably benign	Het
Cep43	T	C	17: 8,401,105 (GRCm39)	S209P	probably damaging	Het
Csmd1	T	C	8: 15,945,728 (GRCm39)	T3562A	probably damaging	Het
Dnah7a	A	G	1: 53,570,362 (GRCm39)	S1815P	probably damaging	Het
Ei24	A	T	9: 36,697,320 (GRCm39)	L136Q	probably damaging	Het
Extl2	T	G	3: 115,804,339 (GRCm39)	M1R	probably null	Het
Fat3	T	C	9: 16,288,104 (GRCm39)	E473G	probably benign	Het
Fcgbpl1	G	A	7: 27,853,889 (GRCm39)	D1618N	possibly damaging	Het
Fhip1a	A	G	3: 85,637,858 (GRCm39)	L147P	probably damaging	Het
G6pc3	T	A	11: 102,080,827 (GRCm39)	W26R	probably damaging	Het
Hc	T	A	2: 34,921,876 (GRCm39)	Y610F	probably benign	Het
Hgf	T	C	5: 16,816,860 (GRCm39)	V497A	probably damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hyou1	A	C	9: 44,302,148 (GRCm39)	D968A	probably benign	Het
Jmjd1c	T	A	10: 67,065,692 (GRCm39)	S1525T	probably damaging	Het
Kcnc4	G	A	3: 107,354,879 (GRCm39)	T523I	probably benign	Het
Kcng1	C	T	2: 168,104,604 (GRCm39)	C414Y	probably damaging	Het
Klhdc10	T	C	6: 30,447,411 (GRCm39)	I204T	probably damaging	Het
Krt18	A	T	15: 101,938,358 (GRCm39)	T194S	probably benign	Het
Krt76	A	C	15: 101,800,842 (GRCm39)	N151K	probably damaging	Het
Krtap31-2	A	G	11: 99,827,542 (GRCm39)	T125A	possibly damaging	Het
Lama5	A	G	2: 179,831,238 (GRCm39)	V1807A	possibly damaging	Het
Lats1	T	G	10: 7,581,369 (GRCm39)	V718G	probably damaging	Het
Mef2b	A	G	8: 70,616,910 (GRCm39)	K4E	probably damaging	Het
Mertk	T	C	2: 128,624,537 (GRCm39)		probably null	Het
Mroh8	A	G	2: 157,070,620 (GRCm39)	V577A	possibly damaging	Het
Mtcl1	T	G	17: 66,745,274 (GRCm39)	N381T	probably damaging	Het
Nfyc	T	A	4: 120,647,688 (GRCm39)		probably null	Het
Nol4	C	A	18: 23,172,933 (GRCm39)	W56L	probably damaging	Het
Notch2	A	T	3: 98,050,272 (GRCm39)	D1849V	probably damaging	Het
Or10ad1	G	A	15: 98,105,452 (GRCm39)	T271I	probably damaging	Het
Or10j7	T	C	1: 173,011,381 (GRCm39)	T207A	probably benign	Het
Or14c45	A	T	7: 86,176,306 (GRCm39)	T114S	possibly damaging	Het
Or4n4b	T	C	14: 50,536,355 (GRCm39)	N137S	probably benign	Het
Or5an10	A	G	19: 12,276,076 (GRCm39)	M140T	probably damaging	Het
Or7g28	T	A	9: 19,272,471 (GRCm39)	Y60F	probably damaging	Het
Or8s5	A	G	15: 98,238,153 (GRCm39)	V239A	possibly damaging	Het
Oxr1	G	A	15: 41,664,978 (GRCm39)	V138I	probably benign	Het
Pars2	A	G	4: 106,511,490 (GRCm39)	E424G	possibly damaging	Het
Peli2	C	A	14: 48,405,726 (GRCm39)	Y50*	probably null	Het
Plag1	T	A	4: 3,905,492 (GRCm39)	H66L	probably benign	Het
Psme4	T	C	11: 30,771,079 (GRCm39)		probably benign	Het
Robo1	A	T	16: 72,801,423 (GRCm39)	S1016C	probably damaging	Het
Rrbp1	A	G	2: 143,816,460 (GRCm39)	V723A	probably benign	Het
Sgip1	C	A	4: 102,778,280 (GRCm39)	D292E	unknown	Het
Skint4	T	A	4: 111,944,232 (GRCm39)	C23S	probably benign	Het
Slc22a28	A	C	19: 8,049,279 (GRCm39)	S323R	probably damaging	Het
Slc41a3	A	G	6: 90,617,891 (GRCm39)	T306A	probably benign	Het
Spata13	A	G	14: 60,987,445 (GRCm39)	M868V	probably damaging	Het
Spata6	T	G	4: 111,603,378 (GRCm39)	I31S	possibly damaging	Het
Sycp3	A	T	10: 88,302,366 (GRCm39)	K119*	probably null	Het
Tlk2	T	A	11: 105,172,046 (GRCm39)	S739T	unknown	Het
Trim10	T	C	17: 37,188,020 (GRCm39)	V412A	probably damaging	Het
Ttc3	T	A	16: 94,211,765 (GRCm39)	F377I	probably benign	Het
Uck1	T	A	2: 32,146,046 (GRCm39)	H283L	probably damaging	Het
Unc5a	T	C	13: 55,143,681 (GRCm39)	Y122H	possibly damaging	Het
Uncx	C	T	5: 139,530,377 (GRCm39)	R152*	probably null	Het
Usp44	A	G	10: 93,681,517 (GRCm39)		probably benign	Het
Vamp2	A	C	11: 68,980,564 (GRCm39)	D44A	probably benign	Het
Vmn2r83	A	G	10: 79,304,849 (GRCm39)	T20A	probably benign	Het
Vmn2r84	A	T	10: 130,221,784 (GRCm39)	I812N	probably damaging	Het
Vrtn	T	G	12: 84,695,943 (GRCm39)	L231R	probably damaging	Het
Wdr75	A	G	1: 45,859,333 (GRCm39)	T677A	probably damaging	Het
Xylt1	C	A	7: 117,148,100 (GRCm39)	S221R	possibly damaging	Het
Zscan22	A	G	7: 12,637,983 (GRCm39)	E125G	possibly damaging	Het
Zxdc	A	T	6: 90,350,698 (GRCm39)	H383L	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
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
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'- AGCACACCGTCAGACTATTCAG -3'
(R):5'- ACAGAATCTGTACCAGAACAGG -3'

Sequencing Primer
(F):5'- CCGTCAGACTATTCAGATGAATCAG -3'
(R):5'- CTGTACCAGAACAGGTTTTTAGGCC -3'

Posted On

2019-06-07