Mutagenetix > Incidental Mutation

Incidental Mutation 'R3806:Herc3'

274591

Institutional Source

Beutler Lab

Gene Symbol

Herc3

Ensembl Gene

ENSMUSG00000029804

Gene Name

hect domain and RLD 3

Synonyms

5730409F18Rik

MMRRC Submission

040763-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58831465-58920398 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58916850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 970 (H970Q)

Ref Sequence

ENSEMBL: ENSMUSP00000040025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041401]

AlphaFold

A6H6S0

Predicted Effect

probably damaging
Transcript: ENSMUST00000041401
AA Change: H970Q

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

SMART Domains

Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: H970Q

Domain	Start	End	E-Value	Type
Pfam:RCC1_2	36	65	1.7e-11	PFAM
Pfam:RCC1	52	99	1.6e-15	PFAM
Pfam:RCC1_2	86	115	1.1e-10	PFAM
Pfam:RCC1	102	152	7.3e-16	PFAM
Pfam:RCC1_2	139	168	1.3e-9	PFAM
Pfam:RCC1	155	205	1.4e-16	PFAM
Pfam:RCC1_2	193	221	5e-10	PFAM
Pfam:RCC1	208	257	1.4e-16	PFAM
Pfam:RCC1_2	244	273	6.1e-8	PFAM
Pfam:RCC1	260	309	1.7e-14	PFAM
Pfam:RCC1_2	296	326	1.1e-7	PFAM
Pfam:RCC1	313	377	6.6e-11	PFAM
HECTc	721	1050	5.79e-157	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131132

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal hair follicle bulge morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Akap9	A	G	5: 3,954,410	N108S	probably benign	Het
Ankmy1	A	G	1: 92,883,758	I636T	possibly damaging	Het
Bbs9	T	A	9: 22,887,630	D851E	probably damaging	Het
Bicd1	T	A	6: 149,518,991	L780M	probably damaging	Het
Ccdc175	T	C	12: 72,180,824	T62A	possibly damaging	Het
Clcnka	T	C	4: 141,387,290	E615G	probably null	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cpxm2	C	T	7: 132,080,091	M236I	probably benign	Het
Dhrs2	A	T	14: 55,234,748	N32I	probably benign	Het
Fam131a	G	A	16: 20,695,858	V70M	probably benign	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fbxl15	G	C	19: 46,329,452	R191P	possibly damaging	Het
Fcrlb	T	C	1: 170,907,614	T315A	probably benign	Het
Fer1l4	C	T	2: 156,045,683	G531D	probably damaging	Het
Gem	C	T	4: 11,705,965	Q18*	probably null	Het
Gm4788	T	A	1: 139,753,035	K248N	probably damaging	Het
Hemk1	T	A	9: 107,337,030	I68F	probably damaging	Het
Ighv5-17	C	A	12: 113,859,298	A68S	probably benign	Het
Ip6k3	T	C	17: 27,145,000	H358R	probably damaging	Het
Itpr2	T	C	6: 146,232,291		probably null	Het
Kmt2a	C	T	9: 44,820,356		probably benign	Het
Krt16	G	T	11: 100,248,740	R51S	unknown	Het
Lamtor1	G	A	7: 101,911,345	V156I	probably damaging	Het
Lingo4	A	G	3: 94,402,100	D115G	probably damaging	Het
Lrrc7	T	C	3: 158,185,493	I346V	probably benign	Het
Man1c1	A	T	4: 134,703,351	L40Q	probably damaging	Het
Mgat4c	A	G	10: 102,388,360	N145S	probably benign	Het
Morf4l1	A	G	9: 90,095,143	S203P	probably benign	Het
Muc5ac	T	C	7: 141,813,734	I2964T	possibly damaging	Het
Naip2	T	A	13: 100,152,634	Q1196L	possibly damaging	Het
Nbas	G	A	12: 13,482,504	G1738S	probably damaging	Het
Nlrp5	A	G	7: 23,404,846	E44G	probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,081,352		probably benign	Het
Olfr1187-ps1	A	T	2: 88,540,356		noncoding transcript	Het
Olfr73	A	G	2: 88,034,567	S191P	possibly damaging	Het
Otof	T	A	5: 30,386,499		probably null	Het
Pcdha2	G	A	18: 36,939,529	R71H	probably benign	Het
Pcdha2	G	T	18: 36,941,691	E792*	probably null	Het
Pcnx	A	G	12: 81,950,137	T936A	possibly damaging	Het
Pofut2	T	C	10: 77,260,806	Y122H	probably damaging	Het
Psg16	A	G	7: 17,090,684	E131G	probably benign	Het
Psmd12	T	G	11: 107,495,765	D387E	probably benign	Het
Rab6a	A	G	7: 100,608,224	M1V	probably null	Het
Ripk3	T	C	14: 55,786,268	R29G	probably benign	Het
Robo4	A	T	9: 37,404,438	D329V	possibly damaging	Het
Ruvbl2	A	G	7: 45,422,190	V423A	possibly damaging	Het
Scgb2b18	T	G	7: 33,173,138	M81L	probably benign	Het
Slc24a2	A	T	4: 87,227,784	L11H	possibly damaging	Het
Slc4a1	T	C	11: 102,357,193	E325G	probably benign	Het
Syt16	A	G	12: 74,229,398	E212G	possibly damaging	Het
Them6	A	G	15: 74,721,518	D75G	probably damaging	Het
Tmem5	A	T	10: 122,081,609	V333E	possibly damaging	Het
Tmem57	C	T	4: 134,830,580	M207I	probably benign	Het
Tnrc18	G	A	5: 142,787,274	A417V	unknown	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Zbtb22	C	T	17: 33,916,946		probably benign	Het
Zfp235	A	G	7: 24,140,621	D225G	probably benign	Het

Other mutations in Herc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Herc3	APN	6	58874263	missense	probably damaging	1.00
IGL00423:Herc3	APN	6	58868715	missense	probably damaging	0.99
IGL00468:Herc3	APN	6	58918766	missense	probably benign	0.04
IGL01153:Herc3	APN	6	58860336	missense	probably benign	0.21
IGL01468:Herc3	APN	6	58854895	missense	probably benign	0.00
IGL01696:Herc3	APN	6	58860386	missense	possibly damaging	0.58
IGL01975:Herc3	APN	6	58916576	missense	possibly damaging	0.91
IGL02797:Herc3	APN	6	58868694	missense	probably benign
IGL02953:Herc3	APN	6	58857733	nonsense	probably null
aegean	UTSW	6	58855760	nonsense	probably null
PIT4519001:Herc3	UTSW	6	58876811	missense	probably damaging	1.00
R0019:Herc3	UTSW	6	58885065	splice site	probably benign
R0019:Herc3	UTSW	6	58885065	splice site	probably benign
R0025:Herc3	UTSW	6	58874308	missense	probably damaging	1.00
R0025:Herc3	UTSW	6	58874308	missense	probably damaging	1.00
R0268:Herc3	UTSW	6	58868628	splice site	probably benign
R0334:Herc3	UTSW	6	58918817	missense	probably damaging	1.00
R0344:Herc3	UTSW	6	58868628	splice site	probably benign
R0853:Herc3	UTSW	6	58876564	missense	probably damaging	1.00
R0927:Herc3	UTSW	6	58868763	missense	possibly damaging	0.48
R1333:Herc3	UTSW	6	58887493	missense	probably damaging	1.00
R1432:Herc3	UTSW	6	58916842	missense	possibly damaging	0.49
R1450:Herc3	UTSW	6	58876515	nonsense	probably null
R1594:Herc3	UTSW	6	58887584	unclassified	probably benign
R1757:Herc3	UTSW	6	58916470	missense	probably damaging	1.00
R1765:Herc3	UTSW	6	58888660	missense	probably damaging	0.99
R1932:Herc3	UTSW	6	58876793	missense	probably damaging	0.99
R1945:Herc3	UTSW	6	58887439	missense	probably damaging	0.96
R1988:Herc3	UTSW	6	58884975	critical splice donor site	probably null
R2172:Herc3	UTSW	6	58887437	missense	probably damaging	1.00
R3080:Herc3	UTSW	6	58856646	splice site	probably null
R3545:Herc3	UTSW	6	58856685	missense	probably damaging	1.00
R3767:Herc3	UTSW	6	58862988	missense	probably benign
R3767:Herc3	UTSW	6	58876602	missense	probably benign	0.00
R3805:Herc3	UTSW	6	58916850	missense	probably damaging	1.00
R4049:Herc3	UTSW	6	58876837	missense	probably damaging	0.99
R4250:Herc3	UTSW	6	58916516	missense	probably damaging	1.00
R4469:Herc3	UTSW	6	58876809	nonsense	probably null
R4534:Herc3	UTSW	6	58860347	missense	probably benign
R4573:Herc3	UTSW	6	58894113	missense	possibly damaging	0.89
R4887:Herc3	UTSW	6	58887499	missense	probably damaging	1.00
R5047:Herc3	UTSW	6	58855760	nonsense	probably null
R5049:Herc3	UTSW	6	58894539	splice site	probably null
R5062:Herc3	UTSW	6	58855760	nonsense	probably null
R5063:Herc3	UTSW	6	58855760	nonsense	probably null
R5288:Herc3	UTSW	6	58874278	missense	probably damaging	0.99
R5297:Herc3	UTSW	6	58856641	missense	probably damaging	1.00
R5386:Herc3	UTSW	6	58874278	missense	probably damaging	0.99
R5435:Herc3	UTSW	6	58855806	missense	probably damaging	1.00
R5576:Herc3	UTSW	6	58888725	missense	probably benign	0.08
R5605:Herc3	UTSW	6	58857727	missense	probably damaging	1.00
R5719:Herc3	UTSW	6	58894543	missense	possibly damaging	0.67
R5743:Herc3	UTSW	6	58918799	missense	probably benign	0.12
R5870:Herc3	UTSW	6	58916450	missense	probably benign	0.01
R6460:Herc3	UTSW	6	58890123	missense	probably damaging	1.00
R6930:Herc3	UTSW	6	58916459	missense	probably damaging	0.98
R7034:Herc3	UTSW	6	58876855	missense	probably benign	0.00
R7131:Herc3	UTSW	6	58887424	missense	probably damaging	1.00
R7187:Herc3	UTSW	6	58856631	missense	probably benign	0.42
R7212:Herc3	UTSW	6	58918773	missense	probably damaging	1.00
R7335:Herc3	UTSW	6	58876788	missense	possibly damaging	0.95
R7349:Herc3	UTSW	6	58858986	missense	probably benign
R7568:Herc3	UTSW	6	58843810	missense	probably benign	0.01
R7857:Herc3	UTSW	6	58843652	nonsense	probably null
R8321:Herc3	UTSW	6	58843769	missense	possibly damaging	0.93
R8672:Herc3	UTSW	6	58873801	missense	probably damaging	0.96
R8684:Herc3	UTSW	6	58887576	missense	probably damaging	1.00
R8968:Herc3	UTSW	6	58890198	missense	probably damaging	1.00
R8994:Herc3	UTSW	6	58874343	missense	probably benign	0.11
R9219:Herc3	UTSW	6	58894567	missense	probably benign	0.01
R9434:Herc3	UTSW	6	58876861	missense	probably benign	0.00
R9562:Herc3	UTSW	6	58859014	missense	probably null	0.01
R9565:Herc3	UTSW	6	58859014	missense	probably null	0.01
Z1176:Herc3	UTSW	6	58843858	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTGGTCTTCACATGCGTTG -3'
(R):5'- TGTGTACTAACAGCCTCTGATG -3'

Sequencing Primer
(F):5'- AGTAGTTGCTAGAGGTCTCCTGC -3'
(R):5'- CTGGGAATCACATTACCCT -3'

Posted On

2015-04-02