Mutagenetix > Incidental Mutation

Incidental Mutation 'R9126:Hecw1'

693272

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 #

R9126 (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 T at 14546608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 132 (R132H)

Ref Sequence

ENSEMBL: ENSMUSP00000152279 (fasta)

Gene Model

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

AlphaFold

Q8K4P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000110516
AA Change: R131H

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

SMART Domains

Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: R131H

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: ENSMUST00000223189
AA Change: R132H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	G	T	3: 98,068,307 (GRCm39)	V47L	probably benign	Het
Atm	T	C	9: 53,370,134 (GRCm39)	K2323R	probably benign	Het
Bbx	A	G	16: 50,020,813 (GRCm39)	L865P	probably damaging	Het
C2cd3	T	A	7: 100,081,430 (GRCm39)	I1024N		Het
Cacna1e	A	T	1: 154,343,510 (GRCm39)	C1161S	probably benign	Het
Caskin2	A	T	11: 115,702,730 (GRCm39)	V26E	possibly damaging	Het
Ccnb3	T	G	X: 6,874,413 (GRCm39)	D722A	probably damaging	Het
Cep135	C	A	5: 76,781,550 (GRCm39)	Q846K	probably benign	Het
Cfap44	A	T	16: 44,295,619 (GRCm39)	D1639V	possibly damaging	Het
Cfh	G	T	1: 140,014,111 (GRCm39)	R1238S	probably damaging	Het
Dctn1	A	T	6: 83,169,835 (GRCm39)	D712V	probably damaging	Het
Ddx21	T	C	10: 62,424,479 (GRCm39)	D574G	probably damaging	Het
Dele1	A	G	18: 38,384,210 (GRCm39)	T35A	probably benign	Het
Dipk1b	A	G	2: 26,525,989 (GRCm39)	T308A	probably benign	Het
Dlgap5	A	G	14: 47,638,989 (GRCm39)	I443T	probably damaging	Het
Dusp7	G	A	9: 106,250,966 (GRCm39)	V364I		Het
Entpd1	G	T	19: 40,714,608 (GRCm39)	R268L	possibly damaging	Het
Fermt3	C	T	19: 6,979,745 (GRCm39)	A463T	probably benign	Het
Frat2	T	C	19: 41,836,106 (GRCm39)	D82G	probably damaging	Het
Git1	T	A	11: 77,390,380 (GRCm39)	I75N	probably damaging	Het
Gpr171	T	A	3: 59,005,488 (GRCm39)	I96F	probably damaging	Het
Gzmb	G	T	14: 56,497,845 (GRCm39)	R132S	probably benign	Het
Hey1	T	G	3: 8,729,651 (GRCm39)	S269R	probably benign	Het
Hgf	T	A	5: 16,765,979 (GRCm39)	N38K	possibly damaging	Het
Lag3	T	C	6: 124,881,809 (GRCm39)	R467G	probably damaging	Het
Lama3	A	T	18: 12,583,527 (GRCm39)	H705L	probably damaging	Het
Lce3f	T	G	3: 92,900,327 (GRCm39)	S49R	unknown	Het
Lrrc49	T	C	9: 60,578,594 (GRCm39)	D250G	probably damaging	Het
Lzts3	T	C	2: 130,477,248 (GRCm39)	K400R	possibly damaging	Het
Macc1	T	C	12: 119,409,711 (GRCm39)	S160P	probably benign	Het
Macf1	T	C	4: 123,276,193 (GRCm39)	T6155A	possibly damaging	Het
Mboat4	C	T	8: 34,582,348 (GRCm39)	T34I	probably benign	Het
Nav3	T	A	10: 109,541,524 (GRCm39)	Q1913L	probably benign	Het
Notch4	T	C	17: 34,800,080 (GRCm39)	S1014P	probably benign	Het
Or1o4	T	C	17: 37,590,745 (GRCm39)	T189A	probably benign	Het
Or2h1b	T	C	17: 37,462,123 (GRCm39)	T247A	possibly damaging	Het
Or52z1	T	G	7: 103,437,002 (GRCm39)	I161L	probably benign	Het
Orc2	A	C	1: 58,515,628 (GRCm39)	H293Q	probably benign	Het
Otoa	A	G	7: 120,693,845 (GRCm39)	Y75C	probably damaging	Het
Pate2	T	A	9: 35,581,908 (GRCm39)		probably null	Het
Phldb3	G	A	7: 24,326,726 (GRCm39)	V585I	probably damaging	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Pou2f1	A	T	1: 165,722,603 (GRCm39)	N443K	unknown	Het
Prkci	T	A	3: 31,072,793 (GRCm39)	F66I	probably damaging	Het
Ptprz1	C	T	6: 23,002,334 (GRCm39)	Q1475*	probably null	Het
Qars1	C	T	9: 108,386,399 (GRCm39)	R143C	probably damaging	Het
Reln	T	C	5: 22,160,194 (GRCm39)	D2125G	probably damaging	Het
Rp1	A	T	1: 4,417,136 (GRCm39)	D1325E	probably damaging	Het
Rpl36a-ps1	A	T	14: 99,231,694 (GRCm39)	C15S	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,314,744 (GRCm39)	I1658T	probably damaging	Het
Serinc1	C	T	10: 57,395,577 (GRCm39)	G370S	probably benign	Het
Spef1	G	T	2: 131,013,829 (GRCm39)	T197K	probably damaging	Het
Spmap2l	A	G	5: 77,164,453 (GRCm39)	Y152C	probably damaging	Het
Sptan1	G	A	2: 29,920,597 (GRCm39)	V2363I	probably damaging	Het
Ssh2	T	A	11: 77,346,102 (GRCm39)	C1362*	probably null	Het
Star	T	C	8: 26,302,832 (GRCm39)	V258A	probably benign	Het
Sympk	T	C	7: 18,778,873 (GRCm39)	I588T	possibly damaging	Het
Tas2r136	T	C	6: 132,754,584 (GRCm39)	N181S	probably damaging	Het
Tbc1d4	A	T	14: 101,724,952 (GRCm39)	V555E	probably benign	Het
Topaz1	G	A	9: 122,625,228 (GRCm39)	V1438I	probably benign	Het
Trmt112	T	A	19: 6,887,786 (GRCm39)	M45K		Het
Tshr	G	A	12: 91,503,992 (GRCm39)	R310H	probably damaging	Het
Ulk4	G	T	9: 121,090,988 (GRCm39)	P238Q	probably damaging	Het
Unc5a	T	C	13: 55,145,774 (GRCm39)	L312P	possibly damaging	Het
Urb1	T	C	16: 90,566,290 (GRCm39)	D1499G	possibly damaging	Het
Ushbp1	A	G	8: 71,843,653 (GRCm39)	S262P	probably damaging	Het
Vmn1r173	G	A	7: 23,402,008 (GRCm39)	R81K	probably benign	Het
Vmn2r5	G	A	3: 64,399,159 (GRCm39)	P607S	probably benign	Het
Vtn	G	T	11: 78,391,256 (GRCm39)	G223V	probably damaging	Het
Zfhx4	T	C	3: 5,394,589 (GRCm39)	V1061A	probably damaging	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp616	T	A	11: 73,976,280 (GRCm39)	C850S	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
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
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'- GCACCTTTCTAAGTGGATTCACC -3'
(R):5'- ATTCCTCTGCCACGTGTTGAG -3'

Sequencing Primer
(F):5'- TCTAAGTGGATTCACCCCAATAG -3'
(R):5'- GGTGGTATCTTTGAATAGTTCCAAC -3'

Posted On

2022-01-20