Mutagenetix > Incidental Mutation

Incidental Mutation 'R0853:Herc3'

82611

Institutional Source

Beutler Lab

Gene Symbol

Herc3

Ensembl Gene

ENSMUSG00000029804

Gene Name

hect domain and RLD 3

Synonyms

5730409F18Rik

MMRRC Submission

039032-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0853 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58831465-58920398 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58876564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 570 (L570P)

Ref Sequence

ENSEMBL: ENSMUSP00000040025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031823] [ENSMUST00000041401]

AlphaFold

A6H6S0

Predicted Effect

probably damaging
Transcript: ENSMUST00000031823
AA Change: L570P

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

SMART Domains

Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: L570P

Domain	Start	End	E-Value	Type
Pfam:RCC1_2	36	65	3.3e-11	PFAM
Pfam:RCC1	52	99	3.6e-15	PFAM
Pfam:RCC1_2	86	115	1.1e-10	PFAM
Pfam:RCC1	102	152	1.4e-16	PFAM
Pfam:RCC1_2	139	168	2.1e-9	PFAM
Pfam:RCC1	155	205	2.6e-16	PFAM
Pfam:RCC1_2	193	221	1.5e-9	PFAM
Pfam:RCC1	208	257	4.7e-17	PFAM
Pfam:RCC1_2	244	273	8e-9	PFAM
Pfam:RCC1	260	309	2.6e-16	PFAM
Pfam:RCC1_2	296	326	2.3e-7	PFAM
Pfam:RCC1	313	377	3.8e-9	PFAM
HECTc	721	913	2.08e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000041401
AA Change: L570P

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

SMART Domains

Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: L570P

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: ENSMUST00000122908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204196

Meta Mutation Damage Score

0.6110

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.9%

Validation Efficiency

93% (42/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	G	T	9: 14,592,778	P378Q	probably damaging	Het
Angpt4	A	G	2: 151,938,927	E365G	probably damaging	Het
Asb6	G	A	2: 30,827,030	P61L	possibly damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Atxn7	C	A	14: 14,089,465		probably benign	Het
Cacul1	A	T	19: 60,534,226	I290N	probably damaging	Het
Ccser2	A	C	14: 36,940,410	S272R	probably benign	Het
Cfh	T	A	1: 140,105,490	H772L	probably damaging	Het
Cldn6	T	G	17: 23,681,464	I134S	probably damaging	Het
Col3a1	T	A	1: 45,343,324		probably benign	Het
Fam118a	T	C	15: 85,048,525	F156S	possibly damaging	Het
Fgd4	T	A	16: 16,474,387		probably benign	Het
Gckr	G	C	5: 31,305,048	A242P	probably damaging	Het
Gcnt4	A	G	13: 96,946,835	D213G	probably damaging	Het
Gm21994	A	T	2: 150,255,478	S38R	probably benign	Het
Hace1	T	A	10: 45,648,683	V237E	probably damaging	Het
Hk1	T	A	10: 62,271,716	K827*	probably null	Het
Hyal6	T	C	6: 24,734,073	F2L	probably benign	Het
Jak2	C	A	19: 29,284,926	Y382*	probably null	Het
Kat8	C	T	7: 127,925,224	H425Y	probably benign	Het
Kcnj3	T	C	2: 55,437,223	F8S	possibly damaging	Het
Klk1	T	A	7: 44,221,498		probably benign	Het
Klra8	T	C	6: 130,119,014	Y205C	probably damaging	Het
Kpnb1	T	C	11: 97,187,411	E26G	probably damaging	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Nphp3	T	C	9: 104,031,933	S781P	probably benign	Het
Nqo2	A	T	13: 33,979,577	H73L	probably benign	Het
P3h3	G	T	6: 124,854,933	D296E	probably benign	Het
Pah	G	A	10: 87,576,218		probably null	Het
Pcdhb4	T	G	18: 37,309,885	Y749*	probably null	Het
Pdgfrb	C	A	18: 61,080,327	N914K	probably damaging	Het
Ralyl	A	G	3: 13,946,506	Y4C	probably damaging	Het
Rapgef6	T	A	11: 54,668,677	I1052N	probably damaging	Het
Sdk2	G	A	11: 113,821,415	T1642I	probably benign	Het
Siglec1	G	A	2: 131,085,022	T207M	probably damaging	Het
Taf1b	T	C	12: 24,514,828	L148P	probably benign	Het
Tbx20	A	G	9: 24,725,612	M393T	probably benign	Het
Tdp1	G	A	12: 99,935,067	R536H	probably damaging	Het
Tubgcp5	T	A	7: 55,814,851		probably benign	Het
Vezf1	A	T	11: 88,068,435		probably benign	Het
Vmn1r58	G	T	7: 5,410,325	T302K	probably damaging	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
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
R3806: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'- TGCAGTAGGTGCATTCTGCATCC -3'
(R):5'- TTGGAAAATCTCCGAGAGAAAGCCC -3'

Sequencing Primer
(F):5'- aggggagagagagggagag -3'
(R):5'- CCGGCAGAATCCTGCATC -3'

Posted On

2013-11-08