Mutagenetix > Incidental Mutation

Incidental Mutation 'R5046:Hectd1'

394389

Institutional Source

Beutler Lab

Gene Symbol

Hectd1

Ensembl Gene

ENSMUSG00000035247

Gene Name

HECT domain E3 ubiquitin protein ligase 1

Synonyms

b2b327Clo, opm, A630086P08Rik

MMRRC Submission

042636-MU

Accession Numbers

Genbank: NM_144788; MGI: 2384768

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51743722-51829536 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51750388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2184 (E2184G)

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: E2184G

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

SMART Domains

Protein: ENSMUSP00000046766
Gene: ENSMUSG00000035247
AA Change: E2184G

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: E2189G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136449
Gene: ENSMUSG00000035247
AA Change: E2189G

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

Meta Mutation Damage Score

0.8813

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (52/52)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,620,354 (GRCm38)	M182R	probably benign	Het
Acsm4	C	A	7: 119,703,374 (GRCm38)	H241N	probably damaging	Het
Arhgap32	G	A	9: 32,256,799 (GRCm38)	A693T	probably damaging	Het
B4galnt3	G	T	6: 120,214,798 (GRCm38)	A658D	probably damaging	Het
Car12	G	A	9: 66,746,613 (GRCm38)	E84K	probably benign	Het
Crocc2	T	A	1: 93,205,902 (GRCm38)	S969T	probably damaging	Het
Crym	A	G	7: 120,195,444 (GRCm38)	V184A	possibly damaging	Het
Cryzl2	T	C	1: 157,465,013 (GRCm38)	C122R	probably damaging	Het
Defb30	T	C	14: 63,036,014 (GRCm38)	E49G	probably benign	Het
Dnah3	A	G	7: 119,951,580 (GRCm38)	L3161P	probably damaging	Het
Dnajc5g	A	G	5: 31,109,692 (GRCm38)	N104S	probably benign	Het
Fcgr1	T	G	3: 96,286,986 (GRCm38)	K195T	probably damaging	Het
Gal	C	T	19: 3,411,167 (GRCm38)	R89H	probably damaging	Het
Gcfc2	C	T	6: 81,948,335 (GRCm38)	A577V	probably benign	Het
Gm5116	A	C	7: 32,495,954 (GRCm38)		noncoding transcript	Het
Golga3	A	T	5: 110,192,940 (GRCm38)	Q540L	probably damaging	Het
Hspa12a	T	C	19: 58,799,545 (GRCm38)	D615G	probably damaging	Het
Igkv14-130	A	T	6: 67,791,481 (GRCm38)	Y107F	probably damaging	Het
Ldlr	T	A	9: 21,745,907 (GRCm38)		probably null	Het
Lin9	T	A	1: 180,669,198 (GRCm38)	L351I	probably benign	Het
Lrrc37a	A	T	11: 103,498,240 (GRCm38)	S2120T	unknown	Het
Mtfmt	G	T	9: 65,439,615 (GRCm38)	V164F	probably damaging	Het
Nampt	T	C	12: 32,833,038 (GRCm38)	V74A	probably damaging	Het
Ndufc2	G	T	7: 97,407,664 (GRCm38)	R120L	probably damaging	Het
Neo1	A	T	9: 58,893,911 (GRCm38)	V1156D	possibly damaging	Het
Nlrp1b	G	A	11: 71,160,072 (GRCm38)	P1065S	possibly damaging	Het
Nop9	A	G	14: 55,745,940 (GRCm38)	H56R	possibly damaging	Het
Olfr1287	A	T	2: 111,449,589 (GRCm38)	T150S	probably benign	Het
Olfr790	A	T	10: 129,501,309 (GRCm38)	M142L	possibly damaging	Het
Pign	A	T	1: 105,522,073 (GRCm38)	N909K	possibly damaging	Het
Prex1	A	G	2: 166,572,963 (GRCm38)	V304A	probably benign	Het
Racgap1	G	A	15: 99,628,762 (GRCm38)	R307W	probably damaging	Het
Rap1gds1	C	A	3: 138,955,420 (GRCm38)	E399*	probably null	Het
Rwdd4a	G	A	8: 47,542,802 (GRCm38)		probably null	Het
Scp2	T	C	4: 108,071,291 (GRCm38)	T401A	probably benign	Het
Sdha	A	G	13: 74,327,333 (GRCm38)	F526S	probably damaging	Het
Shroom1	T	A	11: 53,464,045 (GRCm38)	L264Q	probably benign	Het
Sorl1	T	C	9: 41,996,294 (GRCm38)	T1466A	probably benign	Het
Trpm2	C	T	10: 77,966,018 (GRCm38)	C71Y	probably damaging	Het
Ugt2b34	G	A	5: 86,904,387 (GRCm38)	S250L	probably benign	Het
Vmn2r88	A	G	14: 51,413,181 (GRCm38)	D117G	probably benign	Het
Wdr73	A	T	7: 80,892,425 (GRCm38)		probably benign	Het

Other mutations in Hectd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Hectd1	APN	12	51,759,432 (GRCm38)	missense	probably benign
IGL00402:Hectd1	APN	12	51,769,108 (GRCm38)	missense	possibly damaging	0.94
IGL00419:Hectd1	APN	12	51,764,035 (GRCm38)	missense	probably damaging	0.99
IGL00518:Hectd1	APN	12	51,776,489 (GRCm38)	splice site	probably benign
IGL00565:Hectd1	APN	12	51,790,398 (GRCm38)	missense	probably damaging	0.97
IGL00574:Hectd1	APN	12	51,774,004 (GRCm38)	missense	probably benign	0.17
IGL00576:Hectd1	APN	12	51,759,309 (GRCm38)	missense	probably damaging	0.99
IGL00788:Hectd1	APN	12	51,748,788 (GRCm38)	missense	probably damaging	0.99
IGL00978:Hectd1	APN	12	51,791,390 (GRCm38)	missense	possibly damaging	0.95
IGL01328:Hectd1	APN	12	51,761,121 (GRCm38)	missense	probably damaging	1.00
IGL01337:Hectd1	APN	12	51,802,274 (GRCm38)	missense	possibly damaging	0.95
IGL01634:Hectd1	APN	12	51,803,779 (GRCm38)	missense	probably damaging	0.98
IGL01731:Hectd1	APN	12	51,802,810 (GRCm38)	missense	possibly damaging	0.59
IGL01920:Hectd1	APN	12	51,782,554 (GRCm38)	missense	probably damaging	0.99
IGL01951:Hectd1	APN	12	51,794,497 (GRCm38)	nonsense	probably null
IGL01994:Hectd1	APN	12	51,797,942 (GRCm38)	missense	probably damaging	0.99
IGL02140:Hectd1	APN	12	51,774,137 (GRCm38)	missense	probably damaging	0.99
IGL02150:Hectd1	APN	12	51,769,191 (GRCm38)	missense	probably damaging	0.97
IGL02156:Hectd1	APN	12	51,754,133 (GRCm38)	splice site	probably benign
IGL02177:Hectd1	APN	12	51,772,320 (GRCm38)	missense	probably damaging	0.99
IGL02502:Hectd1	APN	12	51,797,852 (GRCm38)	missense	possibly damaging	0.77
IGL02505:Hectd1	APN	12	51,800,713 (GRCm38)	critical splice donor site	probably null
IGL02519:Hectd1	APN	12	51,769,111 (GRCm38)	missense	probably damaging	0.99
IGL02624:Hectd1	APN	12	51,762,450 (GRCm38)	missense	possibly damaging	0.61
IGL02833:Hectd1	APN	12	51,764,081 (GRCm38)	missense	probably damaging	0.96
IGL02851:Hectd1	APN	12	51,767,640 (GRCm38)	missense	possibly damaging	0.94
IGL02866:Hectd1	APN	12	51,790,613 (GRCm38)	missense	probably damaging	1.00
IGL02981:Hectd1	APN	12	51,768,887 (GRCm38)	missense	possibly damaging	0.70
IGL02987:Hectd1	APN	12	51,744,767 (GRCm38)	missense	probably damaging	1.00
IGL02999:Hectd1	APN	12	51,827,422 (GRCm38)	missense	possibly damaging	0.77
IGL03071:Hectd1	APN	12	51,769,174 (GRCm38)	missense	probably benign	0.00
IGL03078:Hectd1	APN	12	51,802,236 (GRCm38)	missense	probably damaging	0.98
IGL03299:Hectd1	APN	12	51,800,888 (GRCm38)	splice site	probably benign
3-1:Hectd1	UTSW	12	51,753,807 (GRCm38)	missense	probably damaging	0.99
R0039:Hectd1	UTSW	12	51,753,825 (GRCm38)	missense	possibly damaging	0.83
R0238:Hectd1	UTSW	12	51,769,318 (GRCm38)	missense	possibly damaging	0.72
R0238:Hectd1	UTSW	12	51,769,318 (GRCm38)	missense	possibly damaging	0.72
R0239:Hectd1	UTSW	12	51,769,318 (GRCm38)	missense	possibly damaging	0.72
R0239:Hectd1	UTSW	12	51,769,318 (GRCm38)	missense	possibly damaging	0.72
R0268:Hectd1	UTSW	12	51,769,108 (GRCm38)	missense	possibly damaging	0.94
R0268:Hectd1	UTSW	12	51,769,107 (GRCm38)	missense	probably damaging	0.99
R0409:Hectd1	UTSW	12	51,782,556 (GRCm38)	missense	possibly damaging	0.59
R1019:Hectd1	UTSW	12	51,748,657 (GRCm38)	missense	probably damaging	0.99
R1072:Hectd1	UTSW	12	51,761,072 (GRCm38)	missense	probably benign	0.11
R1087:Hectd1	UTSW	12	51,776,572 (GRCm38)	missense	probably damaging	0.99
R1165:Hectd1	UTSW	12	51,764,164 (GRCm38)	splice site	probably benign
R1350:Hectd1	UTSW	12	51,762,434 (GRCm38)	missense	probably benign
R1553:Hectd1	UTSW	12	51,773,878 (GRCm38)	missense	probably damaging	0.98
R1666:Hectd1	UTSW	12	51,753,824 (GRCm38)	missense	possibly damaging	0.91
R1676:Hectd1	UTSW	12	51,744,788 (GRCm38)	missense	probably damaging	1.00
R1694:Hectd1	UTSW	12	51,744,592 (GRCm38)	missense	probably damaging	1.00
R1778:Hectd1	UTSW	12	51,753,807 (GRCm38)	missense	probably damaging	0.99
R1856:Hectd1	UTSW	12	51,744,794 (GRCm38)	missense	probably damaging	1.00
R1859:Hectd1	UTSW	12	51,806,567 (GRCm38)	missense	probably damaging	1.00
R1884:Hectd1	UTSW	12	51,800,955 (GRCm38)	missense	probably benign	0.00
R1982:Hectd1	UTSW	12	51,785,841 (GRCm38)	missense	probably damaging	0.97
R2034:Hectd1	UTSW	12	51,757,116 (GRCm38)	splice site	probably null
R2061:Hectd1	UTSW	12	51,794,444 (GRCm38)	missense	probably damaging	0.99
R2078:Hectd1	UTSW	12	51,748,542 (GRCm38)	missense	probably damaging	0.99
R2176:Hectd1	UTSW	12	51,745,494 (GRCm38)	missense	probably damaging	1.00
R2210:Hectd1	UTSW	12	51,806,462 (GRCm38)	missense	probably damaging	0.99
R2248:Hectd1	UTSW	12	51,806,471 (GRCm38)	missense	probably damaging	0.99
R2282:Hectd1	UTSW	12	51,769,008 (GRCm38)	missense	possibly damaging	0.95
R2402:Hectd1	UTSW	12	51,745,534 (GRCm38)	missense	probably benign	0.01
R3876:Hectd1	UTSW	12	51,768,730 (GRCm38)	missense	probably damaging	0.98
R4027:Hectd1	UTSW	12	51,802,436 (GRCm38)	critical splice acceptor site	probably null
R4085:Hectd1	UTSW	12	51,774,750 (GRCm38)	missense	possibly damaging	0.93
R4115:Hectd1	UTSW	12	51,768,723 (GRCm38)	nonsense	probably null
R4116:Hectd1	UTSW	12	51,768,723 (GRCm38)	nonsense	probably null
R4169:Hectd1	UTSW	12	51,790,225 (GRCm38)	missense	probably damaging	0.97
R4434:Hectd1	UTSW	12	51,752,052 (GRCm38)	missense	probably damaging	1.00
R4507:Hectd1	UTSW	12	51,790,493 (GRCm38)	missense	probably damaging	0.97
R4578:Hectd1	UTSW	12	51,751,932 (GRCm38)	missense	probably damaging	1.00
R4579:Hectd1	UTSW	12	51,744,573 (GRCm38)	missense	probably damaging	0.97
R4709:Hectd1	UTSW	12	51,787,912 (GRCm38)	missense	possibly damaging	0.94
R4812:Hectd1	UTSW	12	51,827,351 (GRCm38)	critical splice donor site	probably null
R4883:Hectd1	UTSW	12	51,784,247 (GRCm38)	nonsense	probably null
R4885:Hectd1	UTSW	12	51,800,722 (GRCm38)	missense	probably damaging	0.97
R4975:Hectd1	UTSW	12	51,762,497 (GRCm38)	missense	probably benign	0.02
R4983:Hectd1	UTSW	12	51,784,262 (GRCm38)	missense	probably benign	0.01
R5007:Hectd1	UTSW	12	51,802,660 (GRCm38)	missense	possibly damaging	0.95
R5062:Hectd1	UTSW	12	51,744,879 (GRCm38)	missense	probably damaging	0.98
R5164:Hectd1	UTSW	12	51,827,489 (GRCm38)	start codon destroyed	probably null	0.60
R5213:Hectd1	UTSW	12	51,802,533 (GRCm38)	critical splice donor site	probably null
R5535:Hectd1	UTSW	12	51,802,326 (GRCm38)	missense	probably damaging	0.98
R5776:Hectd1	UTSW	12	51,764,114 (GRCm38)	missense	possibly damaging	0.91
R5846:Hectd1	UTSW	12	51,773,835 (GRCm38)	missense	probably damaging	0.99
R5907:Hectd1	UTSW	12	51,798,754 (GRCm38)	missense	probably damaging	0.98
R5911:Hectd1	UTSW	12	51,802,252 (GRCm38)	missense	probably damaging	0.99
R5919:Hectd1	UTSW	12	51,769,072 (GRCm38)	missense	probably damaging	0.98
R6051:Hectd1	UTSW	12	51,754,104 (GRCm38)	missense	probably benign
R6141:Hectd1	UTSW	12	51,746,092 (GRCm38)	critical splice donor site	probably null
R6172:Hectd1	UTSW	12	51,769,282 (GRCm38)	missense	probably damaging	1.00
R6194:Hectd1	UTSW	12	51,748,445 (GRCm38)	missense	probably damaging	0.99
R6356:Hectd1	UTSW	12	51,744,619 (GRCm38)	missense	probably damaging	1.00
R6795:Hectd1	UTSW	12	51,794,487 (GRCm38)	missense	possibly damaging	0.94
R6909:Hectd1	UTSW	12	51,764,162 (GRCm38)	splice site	probably null
R6971:Hectd1	UTSW	12	51,748,743 (GRCm38)	nonsense	probably null
R7079:Hectd1	UTSW	12	51,787,855 (GRCm38)	missense	possibly damaging	0.96
R7104:Hectd1	UTSW	12	51,827,351 (GRCm38)	critical splice donor site	probably null
R7171:Hectd1	UTSW	12	51,759,297 (GRCm38)	missense	probably damaging	0.99
R7296:Hectd1	UTSW	12	51,785,852 (GRCm38)	missense	possibly damaging	0.73
R7346:Hectd1	UTSW	12	51,750,321 (GRCm38)	missense	probably benign
R7355:Hectd1	UTSW	12	51,791,298 (GRCm38)	missense	possibly damaging	0.72
R7468:Hectd1	UTSW	12	51,744,805 (GRCm38)	splice site	probably null
R7531:Hectd1	UTSW	12	51,806,367 (GRCm38)	missense	probably benign	0.33
R7532:Hectd1	UTSW	12	51,790,450 (GRCm38)	missense	probably damaging	0.98
R7755:Hectd1	UTSW	12	51,802,220 (GRCm38)	missense	possibly damaging	0.86
R7807:Hectd1	UTSW	12	51,745,388 (GRCm38)	missense	probably damaging	1.00
R7842:Hectd1	UTSW	12	51,772,560 (GRCm38)	missense	probably damaging	0.99
R7922:Hectd1	UTSW	12	51,790,195 (GRCm38)	nonsense	probably null
R8059:Hectd1	UTSW	12	51,790,378 (GRCm38)	missense	possibly damaging	0.53
R8085:Hectd1	UTSW	12	51,748,896 (GRCm38)	missense	probably damaging	0.97
R8145:Hectd1	UTSW	12	51,784,233 (GRCm38)	missense	possibly damaging	0.72
R8157:Hectd1	UTSW	12	51,791,290 (GRCm38)	missense	possibly damaging	0.53
R8405:Hectd1	UTSW	12	51,827,395 (GRCm38)	missense	probably benign	0.01
R8505:Hectd1	UTSW	12	51,750,362 (GRCm38)	missense	probably damaging	1.00
R8511:Hectd1	UTSW	12	51,787,871 (GRCm38)	missense	probably benign	0.01
R8697:Hectd1	UTSW	12	51,772,537 (GRCm38)	critical splice donor site	probably benign
R8725:Hectd1	UTSW	12	51,802,217 (GRCm38)	missense	possibly damaging	0.92
R8727:Hectd1	UTSW	12	51,802,217 (GRCm38)	missense	possibly damaging	0.92
R8911:Hectd1	UTSW	12	51,748,833 (GRCm38)	missense	probably damaging	0.99
R8983:Hectd1	UTSW	12	51,744,627 (GRCm38)	missense	probably damaging	0.97
R9037:Hectd1	UTSW	12	51,785,882 (GRCm38)	missense	possibly damaging	0.85
R9219:Hectd1	UTSW	12	51,753,829 (GRCm38)	missense	probably damaging	0.99
R9413:Hectd1	UTSW	12	51,746,097 (GRCm38)	nonsense	probably null
R9456:Hectd1	UTSW	12	51,785,801 (GRCm38)	missense	probably benign
R9513:Hectd1	UTSW	12	51,769,296 (GRCm38)	missense	possibly damaging	0.92
R9640:Hectd1	UTSW	12	51,748,414 (GRCm38)	nonsense	probably null
R9641:Hectd1	UTSW	12	51,769,264 (GRCm38)	missense	probably benign	0.00
R9713:Hectd1	UTSW	12	51,776,545 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACAAGCCAGCAAGTATAGGC -3'
(R):5'- GGCCCAAGAATGTCAGATGAC -3'

Sequencing Primer
(F):5'- AGGCAAAAAACCTGGCTC -3'
(R):5'- CCAGCCTGGTCTAAAGAGAGTTC -3'

Posted On

2016-06-15