Mutagenetix > Incidental Mutations

Incidental Mutation 'R5297:Herc3'

405473

Institutional Source

Beutler Lab

Gene Symbol

Herc3

Ensembl Gene

ENSMUSG00000029804

Gene Name

hect domain and RLD 3

Synonyms

5730409F18Rik

MMRRC Submission

042880-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5297 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58831465-58920398 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58856641 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 171 (L171P)

Ref Sequence

ENSEMBL: ENSMUSP00000040025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031823] [ENSMUST00000041401] [ENSMUST00000126292] [ENSMUST00000203714]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031823
AA Change: L171P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: L171P

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: L171P

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

SMART Domains

Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: L171P

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: ENSMUST00000126292

SMART Domains

Protein: ENSMUSP00000122401
Gene: ENSMUSG00000029804

Domain	Start	End	E-Value	Type
Pfam:RCC1_2	36	65	1.5e-12	PFAM
Pfam:RCC1	52	77	1e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203714

SMART Domains

Protein: ENSMUSP00000145273
Gene: ENSMUSG00000029804

Domain	Start	End	E-Value	Type
Pfam:RCC1	1	49	1.2e-4	PFAM
Pfam:RCC1_2	36	65	1.8e-10	PFAM
Pfam:RCC1	52	76	7.2e-6	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
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
Acbd6	G	T	1: 155,587,458	A135S	probably benign	Het
Agbl4	A	G	4: 111,566,698	K307R	possibly damaging	Het
AI481877	A	G	4: 59,047,543	W1359R	probably benign	Het
Akna	T	C	4: 63,381,846	E653G	possibly damaging	Het
Arhgap26	T	C	18: 39,121,888	Y273H	probably damaging	Het
Atg14	G	A	14: 47,568,199	R70C	probably damaging	Het
Atp1a1	C	T	3: 101,591,127	V250M	possibly damaging	Het
Cacna1c	T	G	6: 118,742,361	D215A	probably damaging	Het
Cadps	T	A	14: 12,822,345	N132Y	probably damaging	Het
Casp6	T	C	3: 129,910,555	F97L	possibly damaging	Het
Ckap2l	T	C	2: 129,285,370	N296S	possibly damaging	Het
Col6a4	T	C	9: 106,074,867	K611E	probably benign	Het
Copa	A	G	1: 172,113,108	H696R	probably damaging	Het
Cyp2a4	T	A	7: 26,312,204	N283K	probably benign	Het
Dcc	C	T	18: 71,378,738	V869I	probably benign	Het
Efemp1	G	T	11: 28,867,868	G116C	probably damaging	Het
F830045P16Rik	T	C	2: 129,460,553	E373G	probably benign	Het
Fbxo9	T	C	9: 78,086,279	T318A	probably benign	Het
Gipr	A	G	7: 19,157,544	W403R	probably damaging	Het
Gm10093	A	G	17: 78,492,758	S393G	probably benign	Het
Gm12794	T	A	4: 101,941,151	D106E	possibly damaging	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Golgb1	G	A	16: 36,875,616		probably benign	Het
Il5ra	A	G	6: 106,738,134	I221T	probably benign	Het
Itgb2	A	G	10: 77,564,667	I705V	probably damaging	Het
Map4k4	G	T	1: 39,962,217	V55F	probably damaging	Het
Mast1	A	G	8: 84,913,318		probably null	Het
Mitf	G	T	6: 97,994,430	G186V	probably benign	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Nrcam	T	C	12: 44,544,784	F204L	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1111	T	C	2: 87,150,449	I71V	probably benign	Het
Olfr1510	A	G	14: 52,410,218	L218P	probably damaging	Het
Olfr248	A	G	1: 174,391,200	M44V	probably benign	Het
Olfr381	A	T	11: 73,486,389	V145E	probably damaging	Het
Olfr446	T	C	6: 42,927,437	S69P	probably benign	Het
Olfr503	A	T	7: 108,545,404	N291I	probably damaging	Het
Pclo	A	T	5: 14,676,249		probably benign	Het
Pik3ca	T	A	3: 32,450,053	Y631N	probably damaging	Het
Ptk2b	T	C	14: 66,172,517	D462G	probably benign	Het
Rnf19a	A	G	15: 36,247,778	S427P	probably damaging	Het
Scn3a	T	A	2: 65,469,034	Y1376F	possibly damaging	Het
Spem1	A	G	11: 69,820,927	Y304H	probably damaging	Het
Stk38l	C	A	6: 146,775,655	Y450*	probably null	Het
Stx19	A	G	16: 62,821,974	E51G	probably damaging	Het
Ttc41	C	G	10: 86,776,579	Q1239E	probably benign	Het
Tuba3a	C	T	6: 125,281,340	R229H	probably damaging	Het
Utp18	A	T	11: 93,876,089	V264D	probably damaging	Het
V1rd19	T	C	7: 24,003,289	V60A	probably damaging	Het
Virma	T	G	4: 11,494,819	V40G	probably damaging	Het
Vmn1r160	C	T	7: 22,871,290	Q23*	probably null	Het
Vmn2r13	T	C	5: 109,191,939	I57V	probably benign	Het
Vmn2r26	T	A	6: 124,061,873	F802L	probably damaging	Het
Vmn2r61	A	G	7: 42,260,222	D57G	probably benign	Het
Vps13c	A	G	9: 67,878,131	N260S	probably damaging	Het
Xirp1	C	A	9: 120,019,602	A72S	probably damaging	Het
Zfp212	T	C	6: 47,929,077	V190A	probably benign	Het
Zfp703	C	T	8: 26,979,205	P299L	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
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
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
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
Z1176:Herc3	UTSW	6	58843858	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTTTACTTCTCTCTGGTCAAATGC -3'
(R):5'- TTTCATCACTGAGCCCTAGC -3'

Sequencing Primer
(F):5'- CTCTCTGGTCAAATGCTAATTTAGGC -3'
(R):5'- AGCTGCCCTGCATTATTCATTC -3'

Posted On

2016-07-22