Mutagenetix > Incidental Mutation

Incidental Mutation 'R1333:Herc3'

156773

Institutional Source

Beutler Lab

Gene Symbol

Herc3

Ensembl Gene

ENSMUSG00000029804

Gene Name

hect domain and RLD 3

Synonyms

5730409F18Rik

MMRRC Submission

039398-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1333 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58808450-58897383 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58864478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 704 (L704P)

Ref Sequence

ENSEMBL: ENSMUSP00000040025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031823] [ENSMUST00000041401] [ENSMUST00000204629]

AlphaFold

A6H6S0

Predicted Effect

probably damaging
Transcript: ENSMUST00000031823
AA Change: L704P

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

SMART Domains

Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: L704P

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: L704P

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

SMART Domains

Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: L704P

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

probably benign
Transcript: ENSMUST00000204629

SMART Domains

Protein: ENSMUSP00000145319
Gene: ENSMUSG00000029804

Domain	Start	End	E-Value	Type
Pfam:HECT	1	97	1.9e-16	PFAM

Meta Mutation Damage Score

0.9460

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 90.3%

Validation Efficiency

98% (41/42)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	G	8: 114,431,805 (GRCm39)		probably benign	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Amt	A	G	9: 108,178,296 (GRCm39)	D301G	probably benign	Het
Arhgef26	T	C	3: 62,247,744 (GRCm39)	V276A	probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Ccdc63	T	C	5: 122,246,224 (GRCm39)	T566A	probably benign	Het
Cdk5rap1	A	G	2: 154,202,574 (GRCm39)	S219P	probably damaging	Het
Col1a2	T	A	6: 4,515,684 (GRCm39)		probably null	Het
Ctns	G	A	11: 73,075,823 (GRCm39)	T342I	probably benign	Het
Dst	G	A	1: 34,267,428 (GRCm39)	E4957K	probably damaging	Het
Elp1	C	T	4: 56,770,969 (GRCm39)		probably benign	Het
Fam163b	A	G	2: 27,003,659 (GRCm39)		probably benign	Het
Frem2	T	C	3: 53,457,152 (GRCm39)	T2067A	probably benign	Het
Gm7353	C	T	7: 3,159,066 (GRCm39)		noncoding transcript	Het
Gm9791	T	C	3: 34,059,225 (GRCm39)		noncoding transcript	Het
Grik2	G	T	10: 49,404,087 (GRCm39)	T258N	probably damaging	Het
Hjurp	A	C	1: 88,193,768 (GRCm39)	V380G	probably damaging	Het
Lrrc56	A	G	7: 140,778,177 (GRCm39)		probably benign	Het
Mast3	G	A	8: 71,233,938 (GRCm39)	P187S	probably damaging	Het
Mier2	A	G	10: 79,380,991 (GRCm39)	V231A	probably benign	Het
Muc5b	A	G	7: 141,422,144 (GRCm39)	T4427A	possibly damaging	Het
Nox4	A	G	7: 86,896,072 (GRCm39)	S7G	possibly damaging	Het
Obscn	G	C	11: 58,971,143 (GRCm39)	Q2457E	probably damaging	Het
Sh3bgrl2	C	T	9: 83,459,684 (GRCm39)		probably benign	Het
Slc1a1	A	G	19: 28,812,611 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stat6	G	C	10: 127,487,094 (GRCm39)	R200S	possibly damaging	Het
Stxbp5l	C	A	16: 37,068,231 (GRCm39)		probably null	Het
Tanc1	A	G	2: 59,673,835 (GRCm39)	S1647G	probably benign	Het
Tmem132d	T	A	5: 127,861,923 (GRCm39)	M733L	probably benign	Het
Unc13d	A	G	11: 115,964,381 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,199,550 (GRCm39)	S165P	possibly damaging	Het
Vmn1r9	T	C	6: 57,048,615 (GRCm39)	I230T	probably damaging	Het
Zscan20	T	C	4: 128,481,889 (GRCm39)	D591G	possibly damaging	Het

Other mutations in Herc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Herc3	APN	6	58,851,248 (GRCm39)	missense	probably damaging	1.00
IGL00423:Herc3	APN	6	58,845,700 (GRCm39)	missense	probably damaging	0.99
IGL00468:Herc3	APN	6	58,895,751 (GRCm39)	missense	probably benign	0.04
IGL01153:Herc3	APN	6	58,837,321 (GRCm39)	missense	probably benign	0.21
IGL01468:Herc3	APN	6	58,831,880 (GRCm39)	missense	probably benign	0.00
IGL01696:Herc3	APN	6	58,837,371 (GRCm39)	missense	possibly damaging	0.58
IGL01975:Herc3	APN	6	58,893,561 (GRCm39)	missense	possibly damaging	0.91
IGL02797:Herc3	APN	6	58,845,679 (GRCm39)	missense	probably benign
IGL02953:Herc3	APN	6	58,834,718 (GRCm39)	nonsense	probably null
aegean	UTSW	6	58,832,745 (GRCm39)	nonsense	probably null
PIT4519001:Herc3	UTSW	6	58,853,796 (GRCm39)	missense	probably damaging	1.00
R0019:Herc3	UTSW	6	58,862,050 (GRCm39)	splice site	probably benign
R0019:Herc3	UTSW	6	58,862,050 (GRCm39)	splice site	probably benign
R0025:Herc3	UTSW	6	58,851,293 (GRCm39)	missense	probably damaging	1.00
R0025:Herc3	UTSW	6	58,851,293 (GRCm39)	missense	probably damaging	1.00
R0268:Herc3	UTSW	6	58,845,613 (GRCm39)	splice site	probably benign
R0334:Herc3	UTSW	6	58,895,802 (GRCm39)	missense	probably damaging	1.00
R0344:Herc3	UTSW	6	58,845,613 (GRCm39)	splice site	probably benign
R0853:Herc3	UTSW	6	58,853,549 (GRCm39)	missense	probably damaging	1.00
R0927:Herc3	UTSW	6	58,845,748 (GRCm39)	missense	possibly damaging	0.48
R1432:Herc3	UTSW	6	58,893,827 (GRCm39)	missense	possibly damaging	0.49
R1450:Herc3	UTSW	6	58,853,500 (GRCm39)	nonsense	probably null
R1594:Herc3	UTSW	6	58,864,569 (GRCm39)	unclassified	probably benign
R1757:Herc3	UTSW	6	58,893,455 (GRCm39)	missense	probably damaging	1.00
R1765:Herc3	UTSW	6	58,865,645 (GRCm39)	missense	probably damaging	0.99
R1932:Herc3	UTSW	6	58,853,778 (GRCm39)	missense	probably damaging	0.99
R1945:Herc3	UTSW	6	58,864,424 (GRCm39)	missense	probably damaging	0.96
R1988:Herc3	UTSW	6	58,861,960 (GRCm39)	critical splice donor site	probably null
R2172:Herc3	UTSW	6	58,864,422 (GRCm39)	missense	probably damaging	1.00
R3080:Herc3	UTSW	6	58,833,631 (GRCm39)	splice site	probably null
R3545:Herc3	UTSW	6	58,833,670 (GRCm39)	missense	probably damaging	1.00
R3767:Herc3	UTSW	6	58,853,587 (GRCm39)	missense	probably benign	0.00
R3767:Herc3	UTSW	6	58,839,973 (GRCm39)	missense	probably benign
R3805:Herc3	UTSW	6	58,893,835 (GRCm39)	missense	probably damaging	1.00
R3806:Herc3	UTSW	6	58,893,835 (GRCm39)	missense	probably damaging	1.00
R4049:Herc3	UTSW	6	58,853,822 (GRCm39)	missense	probably damaging	0.99
R4250:Herc3	UTSW	6	58,893,501 (GRCm39)	missense	probably damaging	1.00
R4469:Herc3	UTSW	6	58,853,794 (GRCm39)	nonsense	probably null
R4534:Herc3	UTSW	6	58,837,332 (GRCm39)	missense	probably benign
R4573:Herc3	UTSW	6	58,871,098 (GRCm39)	missense	possibly damaging	0.89
R4887:Herc3	UTSW	6	58,864,484 (GRCm39)	missense	probably damaging	1.00
R5047:Herc3	UTSW	6	58,832,745 (GRCm39)	nonsense	probably null
R5049:Herc3	UTSW	6	58,871,524 (GRCm39)	splice site	probably null
R5062:Herc3	UTSW	6	58,832,745 (GRCm39)	nonsense	probably null
R5063:Herc3	UTSW	6	58,832,745 (GRCm39)	nonsense	probably null
R5288:Herc3	UTSW	6	58,851,263 (GRCm39)	missense	probably damaging	0.99
R5297:Herc3	UTSW	6	58,833,626 (GRCm39)	missense	probably damaging	1.00
R5386:Herc3	UTSW	6	58,851,263 (GRCm39)	missense	probably damaging	0.99
R5435:Herc3	UTSW	6	58,832,791 (GRCm39)	missense	probably damaging	1.00
R5576:Herc3	UTSW	6	58,865,710 (GRCm39)	missense	probably benign	0.08
R5605:Herc3	UTSW	6	58,834,712 (GRCm39)	missense	probably damaging	1.00
R5719:Herc3	UTSW	6	58,871,528 (GRCm39)	missense	possibly damaging	0.67
R5743:Herc3	UTSW	6	58,895,784 (GRCm39)	missense	probably benign	0.12
R5870:Herc3	UTSW	6	58,893,435 (GRCm39)	missense	probably benign	0.01
R6460:Herc3	UTSW	6	58,867,108 (GRCm39)	missense	probably damaging	1.00
R6930:Herc3	UTSW	6	58,893,444 (GRCm39)	missense	probably damaging	0.98
R7034:Herc3	UTSW	6	58,853,840 (GRCm39)	missense	probably benign	0.00
R7131:Herc3	UTSW	6	58,864,409 (GRCm39)	missense	probably damaging	1.00
R7187:Herc3	UTSW	6	58,833,616 (GRCm39)	missense	probably benign	0.42
R7212:Herc3	UTSW	6	58,895,758 (GRCm39)	missense	probably damaging	1.00
R7335:Herc3	UTSW	6	58,853,773 (GRCm39)	missense	possibly damaging	0.95
R7349:Herc3	UTSW	6	58,835,971 (GRCm39)	missense	probably benign
R7568:Herc3	UTSW	6	58,820,795 (GRCm39)	missense	probably benign	0.01
R7857:Herc3	UTSW	6	58,820,637 (GRCm39)	nonsense	probably null
R8321:Herc3	UTSW	6	58,820,754 (GRCm39)	missense	possibly damaging	0.93
R8672:Herc3	UTSW	6	58,850,786 (GRCm39)	missense	probably damaging	0.96
R8684:Herc3	UTSW	6	58,864,561 (GRCm39)	missense	probably damaging	1.00
R8968:Herc3	UTSW	6	58,867,183 (GRCm39)	missense	probably damaging	1.00
R8994:Herc3	UTSW	6	58,851,328 (GRCm39)	missense	probably benign	0.11
R9219:Herc3	UTSW	6	58,871,552 (GRCm39)	missense	probably benign	0.01
R9434:Herc3	UTSW	6	58,853,846 (GRCm39)	missense	probably benign	0.00
R9562:Herc3	UTSW	6	58,835,999 (GRCm39)	missense	probably null	0.01
R9565:Herc3	UTSW	6	58,835,999 (GRCm39)	missense	probably null	0.01
Z1176:Herc3	UTSW	6	58,820,843 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAAGTGGACACTTTCCACACTGAC -3'
(R):5'- GGCAAGATAAGATATGGCTGCCCTC -3'

Sequencing Primer
(F):5'- CCACACTGACTGTTTTGAGAATCG -3'
(R):5'- GCTGCCCTCCATATCTTAGTAAGAG -3'

Posted On

2014-02-11