Mutagenetix > Incidental Mutation

Incidental Mutation 'R4434:Hectd1'

328760

Institutional Source

Beutler Lab

Gene Symbol

Hectd1

Ensembl Gene

ENSMUSG00000035247

Gene Name

HECT domain E3 ubiquitin protein ligase 1

Synonyms

A630086P08Rik, b2b327Clo, opm

MMRRC Submission

041148-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4434 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51790505-51876319 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51798835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 2095 (I2095K)

Ref Sequence

ENSEMBL: ENSMUSP00000046766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042052] [ENSMUST00000179265]

AlphaFold

Q69ZR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000042052
AA Change: I2095K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046766
Gene: ENSMUSG00000035247
AA Change: I2095K

Domain	Start	End	E-Value	Type
low complexity region	317	331	N/A	INTRINSIC
ANK	395	424	1.44e-1	SMART
ANK	426	455	2.81e-4	SMART
ANK	459	488	1.55e2	SMART
low complexity region	490	509	N/A	INTRINSIC
low complexity region	630	654	N/A	INTRINSIC
low complexity region	707	723	N/A	INTRINSIC
low complexity region	821	832	N/A	INTRINSIC
Pfam:Sad1_UNC	1107	1240	9.2e-27	PFAM
low complexity region	1259	1271	N/A	INTRINSIC
Pfam:MIB_HERC2	1277	1338	7.6e-27	PFAM
low complexity region	1373	1401	N/A	INTRINSIC
low complexity region	1441	1458	N/A	INTRINSIC
low complexity region	1484	1495	N/A	INTRINSIC
low complexity region	1508	1524	N/A	INTRINSIC
low complexity region	1600	1630	N/A	INTRINSIC
low complexity region	1633	1651	N/A	INTRINSIC
low complexity region	1674	1703	N/A	INTRINSIC
low complexity region	1745	1752	N/A	INTRINSIC
PDB:2LC3\|A	1879	1966	4e-57	PDB
low complexity region	2101	2117	N/A	INTRINSIC
HECTc	2143	2610	8.32e-76	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000179265
AA Change: I2100K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136449
Gene: ENSMUSG00000035247
AA Change: I2100K

Domain	Start	End	E-Value	Type
low complexity region	317	331	N/A	INTRINSIC
ANK	396	425	1.44e-1	SMART
ANK	427	456	2.81e-4	SMART
ANK	460	489	1.55e2	SMART
low complexity region	491	510	N/A	INTRINSIC
low complexity region	631	655	N/A	INTRINSIC
low complexity region	708	724	N/A	INTRINSIC
low complexity region	822	833	N/A	INTRINSIC
Pfam:Sad1_UNC	1112	1245	1.3e-26	PFAM
low complexity region	1264	1276	N/A	INTRINSIC
Pfam:MIB_HERC2	1282	1341	5.3e-26	PFAM
low complexity region	1378	1406	N/A	INTRINSIC
low complexity region	1446	1463	N/A	INTRINSIC
low complexity region	1489	1500	N/A	INTRINSIC
low complexity region	1513	1529	N/A	INTRINSIC
low complexity region	1605	1635	N/A	INTRINSIC
low complexity region	1638	1656	N/A	INTRINSIC
low complexity region	1679	1708	N/A	INTRINSIC
low complexity region	1750	1757	N/A	INTRINSIC
PDB:2LC3\|A	1884	1971	3e-57	PDB
low complexity region	2106	2122	N/A	INTRINSIC
HECTc	2148	2618	4.5e-72	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice that are homozygous for either a gene trapped or an ENU-induced allele exhibit exencephaly associated with impaired head mesenchyme development and neural tube closure, and show eye and cranial vault dysplasia. Homozygotes for another ENU-induced allele show congenital cardiovascular defects. [provided by MGI curators]

Allele List at MGI

All alleles(30) : Gene trapped(29) Chemically induced(1)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	T	8: 111,781,253 (GRCm39)	Q907L	probably null	Het
Adam6b	A	C	12: 113,454,281 (GRCm39)	Q366P	probably damaging	Het
AI597479	C	T	1: 43,139,959 (GRCm39)	Q62*	probably null	Het
Akap9	T	A	5: 4,082,708 (GRCm39)	M1944K	probably damaging	Het
Akr1c19	T	C	13: 4,292,615 (GRCm39)	V212A	probably benign	Het
Ank3	C	T	10: 69,822,900 (GRCm39)	S523L	probably damaging	Het
Antxrl	G	A	14: 33,793,574 (GRCm39)		probably benign	Het
Arhgap21	A	G	2: 20,972,146 (GRCm39)	C26R	probably benign	Het
Cdc37l1	T	C	19: 28,985,021 (GRCm39)	F224L	probably damaging	Het
Csmd3	G	A	15: 47,763,191 (GRCm39)	T1215I	possibly damaging	Het
Dnah7c	G	A	1: 46,705,442 (GRCm39)	R2485H	probably damaging	Het
Dnah9	T	A	11: 65,998,901 (GRCm39)	N1049I	possibly damaging	Het
Dnaja3	T	G	16: 4,507,859 (GRCm39)	Y120*	probably null	Het
Ehbp1l1	G	T	19: 5,766,276 (GRCm39)	R412S	possibly damaging	Het
Fam169a	A	G	13: 97,263,248 (GRCm39)	D567G	probably damaging	Het
Gcnt4	T	A	13: 97,082,850 (GRCm39)	Y49N	probably benign	Het
Gm5849	T	A	3: 90,685,182 (GRCm39)	K1M	probably null	Het
Gngt1	A	G	6: 3,994,282 (GRCm39)	D20G	probably benign	Het
Gnptab	A	G	10: 88,248,484 (GRCm39)	N104S	probably damaging	Het
Gpn3	A	G	5: 122,520,115 (GRCm39)	D223G	probably benign	Het
Hephl1	C	T	9: 14,988,092 (GRCm39)	R672H	probably damaging	Het
Hpse2	A	G	19: 43,282,708 (GRCm39)	S182P	probably benign	Het
Itgb4	T	A	11: 115,890,640 (GRCm39)	S1109R	probably benign	Het
Itgbl1	A	T	14: 124,209,611 (GRCm39)	D330V	probably damaging	Het
Krt77	A	T	15: 101,773,904 (GRCm39)	V250E	probably damaging	Het
Mycbp2	T	A	14: 103,371,225 (GRCm39)	N4108Y	probably damaging	Het
Nampt	T	C	12: 32,888,362 (GRCm39)	I171T	probably damaging	Het
Nckap5l	A	C	15: 99,320,744 (GRCm39)	S1270A	probably benign	Het
Opa1	A	G	16: 29,430,801 (GRCm39)	I500M	probably damaging	Het
Or10j5	C	T	1: 172,785,111 (GRCm39)	H250Y	probably damaging	Het
Pax8	G	A	2: 24,319,621 (GRCm39)	P350L	possibly damaging	Het
Plxnb2	A	G	15: 89,047,006 (GRCm39)	C772R	probably damaging	Het
Prh1	A	T	6: 132,548,841 (GRCm39)	H116L	unknown	Het
Rgsl1	C	T	1: 153,678,087 (GRCm39)	A114T	possibly damaging	Het
Rln1	A	T	19: 29,311,962 (GRCm39)	F12Y	possibly damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Scube1	A	T	15: 83,606,125 (GRCm39)	I49N	probably damaging	Het
Shank3	C	A	15: 89,387,562 (GRCm39)	L244I	probably damaging	Het
Shc3	T	C	13: 51,603,302 (GRCm39)	T268A	probably benign	Het
Sp7	A	G	15: 102,267,536 (GRCm39)	L90P	probably damaging	Het
Tacc2	G	A	7: 130,225,271 (GRCm39)	S652N	probably damaging	Het
Tacstd2	A	G	6: 67,512,128 (GRCm39)	V188A	possibly damaging	Het
Tasor	G	A	14: 27,171,818 (GRCm39)		probably null	Het
Tex26	T	C	5: 149,376,820 (GRCm39)	S70P	probably benign	Het
Tmc4	C	T	7: 3,675,006 (GRCm39)	V222M	probably benign	Het
Tnc	T	C	4: 63,926,066 (GRCm39)	T905A	possibly damaging	Het
Trim65	G	A	11: 116,018,435 (GRCm39)	Q253*	probably null	Het
Tuba3a	A	T	6: 125,258,506 (GRCm39)	Y161*	probably null	Het
Zfand2b	A	G	1: 75,147,330 (GRCm39)	S197G	possibly damaging	Het
Zfp109	T	A	7: 23,928,771 (GRCm39)	T213S	probably benign	Het
Zfp985	A	C	4: 147,668,368 (GRCm39)	D412A	probably benign	Het
Zswim3	T	A	2: 164,662,563 (GRCm39)	C348S	probably benign	Het

Other mutations in Hectd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Hectd1	APN	12	51,806,215 (GRCm39)	missense	probably benign
IGL00402:Hectd1	APN	12	51,815,891 (GRCm39)	missense	possibly damaging	0.94
IGL00419:Hectd1	APN	12	51,810,818 (GRCm39)	missense	probably damaging	0.99
IGL00518:Hectd1	APN	12	51,823,272 (GRCm39)	splice site	probably benign
IGL00565:Hectd1	APN	12	51,837,181 (GRCm39)	missense	probably damaging	0.97
IGL00574:Hectd1	APN	12	51,820,787 (GRCm39)	missense	probably benign	0.17
IGL00576:Hectd1	APN	12	51,806,092 (GRCm39)	missense	probably damaging	0.99
IGL00788:Hectd1	APN	12	51,795,571 (GRCm39)	missense	probably damaging	0.99
IGL00978:Hectd1	APN	12	51,838,173 (GRCm39)	missense	possibly damaging	0.95
IGL01328:Hectd1	APN	12	51,807,904 (GRCm39)	missense	probably damaging	1.00
IGL01337:Hectd1	APN	12	51,849,057 (GRCm39)	missense	possibly damaging	0.95
IGL01634:Hectd1	APN	12	51,850,562 (GRCm39)	missense	probably damaging	0.98
IGL01731:Hectd1	APN	12	51,849,593 (GRCm39)	missense	possibly damaging	0.59
IGL01920:Hectd1	APN	12	51,829,337 (GRCm39)	missense	probably damaging	0.99
IGL01951:Hectd1	APN	12	51,841,280 (GRCm39)	nonsense	probably null
IGL01994:Hectd1	APN	12	51,844,725 (GRCm39)	missense	probably damaging	0.99
IGL02140:Hectd1	APN	12	51,820,920 (GRCm39)	missense	probably damaging	0.99
IGL02150:Hectd1	APN	12	51,815,974 (GRCm39)	missense	probably damaging	0.97
IGL02156:Hectd1	APN	12	51,800,916 (GRCm39)	splice site	probably benign
IGL02177:Hectd1	APN	12	51,819,103 (GRCm39)	missense	probably damaging	0.99
IGL02502:Hectd1	APN	12	51,844,635 (GRCm39)	missense	possibly damaging	0.77
IGL02505:Hectd1	APN	12	51,847,496 (GRCm39)	critical splice donor site	probably null
IGL02519:Hectd1	APN	12	51,815,894 (GRCm39)	missense	probably damaging	0.99
IGL02624:Hectd1	APN	12	51,809,233 (GRCm39)	missense	possibly damaging	0.61
IGL02833:Hectd1	APN	12	51,810,864 (GRCm39)	missense	probably damaging	0.96
IGL02851:Hectd1	APN	12	51,814,423 (GRCm39)	missense	possibly damaging	0.94
IGL02866:Hectd1	APN	12	51,837,396 (GRCm39)	missense	probably damaging	1.00
IGL02981:Hectd1	APN	12	51,815,670 (GRCm39)	missense	possibly damaging	0.70
IGL02987:Hectd1	APN	12	51,791,550 (GRCm39)	missense	probably damaging	1.00
IGL02999:Hectd1	APN	12	51,874,205 (GRCm39)	missense	possibly damaging	0.77
IGL03071:Hectd1	APN	12	51,815,957 (GRCm39)	missense	probably benign	0.00
IGL03078:Hectd1	APN	12	51,849,019 (GRCm39)	missense	probably damaging	0.98
IGL03299:Hectd1	APN	12	51,847,671 (GRCm39)	splice site	probably benign
3-1:Hectd1	UTSW	12	51,800,590 (GRCm39)	missense	probably damaging	0.99
R0039:Hectd1	UTSW	12	51,800,608 (GRCm39)	missense	possibly damaging	0.83
R0238:Hectd1	UTSW	12	51,816,101 (GRCm39)	missense	possibly damaging	0.72
R0238:Hectd1	UTSW	12	51,816,101 (GRCm39)	missense	possibly damaging	0.72
R0239:Hectd1	UTSW	12	51,816,101 (GRCm39)	missense	possibly damaging	0.72
R0239:Hectd1	UTSW	12	51,816,101 (GRCm39)	missense	possibly damaging	0.72
R0268:Hectd1	UTSW	12	51,815,891 (GRCm39)	missense	possibly damaging	0.94
R0268:Hectd1	UTSW	12	51,815,890 (GRCm39)	missense	probably damaging	0.99
R0409:Hectd1	UTSW	12	51,829,339 (GRCm39)	missense	possibly damaging	0.59
R1019:Hectd1	UTSW	12	51,795,440 (GRCm39)	missense	probably damaging	0.99
R1072:Hectd1	UTSW	12	51,807,855 (GRCm39)	missense	probably benign	0.11
R1087:Hectd1	UTSW	12	51,823,355 (GRCm39)	missense	probably damaging	0.99
R1165:Hectd1	UTSW	12	51,810,947 (GRCm39)	splice site	probably benign
R1350:Hectd1	UTSW	12	51,809,217 (GRCm39)	missense	probably benign
R1553:Hectd1	UTSW	12	51,820,661 (GRCm39)	missense	probably damaging	0.98
R1666:Hectd1	UTSW	12	51,800,607 (GRCm39)	missense	possibly damaging	0.91
R1676:Hectd1	UTSW	12	51,791,571 (GRCm39)	missense	probably damaging	1.00
R1694:Hectd1	UTSW	12	51,791,375 (GRCm39)	missense	probably damaging	1.00
R1778:Hectd1	UTSW	12	51,800,590 (GRCm39)	missense	probably damaging	0.99
R1856:Hectd1	UTSW	12	51,791,577 (GRCm39)	missense	probably damaging	1.00
R1859:Hectd1	UTSW	12	51,853,350 (GRCm39)	missense	probably damaging	1.00
R1884:Hectd1	UTSW	12	51,847,738 (GRCm39)	missense	probably benign	0.00
R1982:Hectd1	UTSW	12	51,832,624 (GRCm39)	missense	probably damaging	0.97
R2034:Hectd1	UTSW	12	51,803,899 (GRCm39)	splice site	probably null
R2061:Hectd1	UTSW	12	51,841,227 (GRCm39)	missense	probably damaging	0.99
R2078:Hectd1	UTSW	12	51,795,325 (GRCm39)	missense	probably damaging	0.99
R2176:Hectd1	UTSW	12	51,792,277 (GRCm39)	missense	probably damaging	1.00
R2210:Hectd1	UTSW	12	51,853,245 (GRCm39)	missense	probably damaging	0.99
R2248:Hectd1	UTSW	12	51,853,254 (GRCm39)	missense	probably damaging	0.99
R2282:Hectd1	UTSW	12	51,815,791 (GRCm39)	missense	possibly damaging	0.95
R2402:Hectd1	UTSW	12	51,792,317 (GRCm39)	missense	probably benign	0.01
R3876:Hectd1	UTSW	12	51,815,513 (GRCm39)	missense	probably damaging	0.98
R4027:Hectd1	UTSW	12	51,849,219 (GRCm39)	critical splice acceptor site	probably null
R4085:Hectd1	UTSW	12	51,821,533 (GRCm39)	missense	possibly damaging	0.93
R4115:Hectd1	UTSW	12	51,815,506 (GRCm39)	nonsense	probably null
R4116:Hectd1	UTSW	12	51,815,506 (GRCm39)	nonsense	probably null
R4169:Hectd1	UTSW	12	51,837,008 (GRCm39)	missense	probably damaging	0.97
R4507:Hectd1	UTSW	12	51,837,276 (GRCm39)	missense	probably damaging	0.97
R4578:Hectd1	UTSW	12	51,798,715 (GRCm39)	missense	probably damaging	1.00
R4579:Hectd1	UTSW	12	51,791,356 (GRCm39)	missense	probably damaging	0.97
R4709:Hectd1	UTSW	12	51,834,695 (GRCm39)	missense	possibly damaging	0.94
R4812:Hectd1	UTSW	12	51,874,134 (GRCm39)	critical splice donor site	probably null
R4883:Hectd1	UTSW	12	51,831,030 (GRCm39)	nonsense	probably null
R4885:Hectd1	UTSW	12	51,847,505 (GRCm39)	missense	probably damaging	0.97
R4975:Hectd1	UTSW	12	51,809,280 (GRCm39)	missense	probably benign	0.02
R4983:Hectd1	UTSW	12	51,831,045 (GRCm39)	missense	probably benign	0.01
R5007:Hectd1	UTSW	12	51,849,443 (GRCm39)	missense	possibly damaging	0.95
R5046:Hectd1	UTSW	12	51,797,171 (GRCm39)	missense	probably damaging	1.00
R5062:Hectd1	UTSW	12	51,791,662 (GRCm39)	missense	probably damaging	0.98
R5164:Hectd1	UTSW	12	51,874,272 (GRCm39)	start codon destroyed	probably null	0.60
R5213:Hectd1	UTSW	12	51,849,316 (GRCm39)	critical splice donor site	probably null
R5535:Hectd1	UTSW	12	51,849,109 (GRCm39)	missense	probably damaging	0.98
R5776:Hectd1	UTSW	12	51,810,897 (GRCm39)	missense	possibly damaging	0.91
R5846:Hectd1	UTSW	12	51,820,618 (GRCm39)	missense	probably damaging	0.99
R5907:Hectd1	UTSW	12	51,845,537 (GRCm39)	missense	probably damaging	0.98
R5911:Hectd1	UTSW	12	51,849,035 (GRCm39)	missense	probably damaging	0.99
R5919:Hectd1	UTSW	12	51,815,855 (GRCm39)	missense	probably damaging	0.98
R6051:Hectd1	UTSW	12	51,800,887 (GRCm39)	missense	probably benign
R6141:Hectd1	UTSW	12	51,792,875 (GRCm39)	critical splice donor site	probably null
R6172:Hectd1	UTSW	12	51,816,065 (GRCm39)	missense	probably damaging	1.00
R6194:Hectd1	UTSW	12	51,795,228 (GRCm39)	missense	probably damaging	0.99
R6356:Hectd1	UTSW	12	51,791,402 (GRCm39)	missense	probably damaging	1.00
R6795:Hectd1	UTSW	12	51,841,270 (GRCm39)	missense	possibly damaging	0.94
R6909:Hectd1	UTSW	12	51,810,945 (GRCm39)	splice site	probably null
R6971:Hectd1	UTSW	12	51,795,526 (GRCm39)	nonsense	probably null
R7079:Hectd1	UTSW	12	51,834,638 (GRCm39)	missense	possibly damaging	0.96
R7104:Hectd1	UTSW	12	51,874,134 (GRCm39)	critical splice donor site	probably null
R7171:Hectd1	UTSW	12	51,806,080 (GRCm39)	missense	probably damaging	0.99
R7296:Hectd1	UTSW	12	51,832,635 (GRCm39)	missense	possibly damaging	0.73
R7346:Hectd1	UTSW	12	51,797,104 (GRCm39)	missense	probably benign
R7355:Hectd1	UTSW	12	51,838,081 (GRCm39)	missense	possibly damaging	0.72
R7468:Hectd1	UTSW	12	51,791,588 (GRCm39)	splice site	probably null
R7531:Hectd1	UTSW	12	51,853,150 (GRCm39)	missense	probably benign	0.33
R7532:Hectd1	UTSW	12	51,837,233 (GRCm39)	missense	probably damaging	0.98
R7755:Hectd1	UTSW	12	51,849,003 (GRCm39)	missense	possibly damaging	0.86
R7807:Hectd1	UTSW	12	51,792,171 (GRCm39)	missense	probably damaging	1.00
R7842:Hectd1	UTSW	12	51,819,343 (GRCm39)	missense	probably damaging	0.99
R7922:Hectd1	UTSW	12	51,836,978 (GRCm39)	nonsense	probably null
R8059:Hectd1	UTSW	12	51,837,161 (GRCm39)	missense	possibly damaging	0.53
R8085:Hectd1	UTSW	12	51,795,679 (GRCm39)	missense	probably damaging	0.97
R8145:Hectd1	UTSW	12	51,831,016 (GRCm39)	missense	possibly damaging	0.72
R8157:Hectd1	UTSW	12	51,838,073 (GRCm39)	missense	possibly damaging	0.53
R8405:Hectd1	UTSW	12	51,874,178 (GRCm39)	missense	probably benign	0.01
R8505:Hectd1	UTSW	12	51,797,145 (GRCm39)	missense	probably damaging	1.00
R8511:Hectd1	UTSW	12	51,834,654 (GRCm39)	missense	probably benign	0.01
R8697:Hectd1	UTSW	12	51,819,320 (GRCm39)	critical splice donor site	probably benign
R8725:Hectd1	UTSW	12	51,849,000 (GRCm39)	missense	possibly damaging	0.92
R8727:Hectd1	UTSW	12	51,849,000 (GRCm39)	missense	possibly damaging	0.92
R8911:Hectd1	UTSW	12	51,795,616 (GRCm39)	missense	probably damaging	0.99
R8983:Hectd1	UTSW	12	51,791,410 (GRCm39)	missense	probably damaging	0.97
R9037:Hectd1	UTSW	12	51,832,665 (GRCm39)	missense	possibly damaging	0.85
R9219:Hectd1	UTSW	12	51,800,612 (GRCm39)	missense	probably damaging	0.99
R9413:Hectd1	UTSW	12	51,792,880 (GRCm39)	nonsense	probably null
R9456:Hectd1	UTSW	12	51,832,584 (GRCm39)	missense	probably benign
R9513:Hectd1	UTSW	12	51,816,079 (GRCm39)	missense	possibly damaging	0.92
R9640:Hectd1	UTSW	12	51,795,197 (GRCm39)	nonsense	probably null
R9641:Hectd1	UTSW	12	51,816,047 (GRCm39)	missense	probably benign	0.00
R9713:Hectd1	UTSW	12	51,823,328 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CCAGAACCCCTGCTTTATAGGC -3'
(R):5'- CAGCATTGTGTATCCATGATCCTG -3'

Sequencing Primer
(F):5'- AGAACTGACTTCCGATCTGCGTG -3'
(R):5'- TATCCATGATCCTGGGAACTAGG -3'

Posted On

2015-07-21