Mutagenetix > Incidental Mutation

Incidental Mutation 'R5288:Herc3'

424477

Institutional Source

Beutler Lab

Gene Symbol

Herc3

Ensembl Gene

ENSMUSG00000029804

Gene Name

hect domain and RLD 3

Synonyms

5730409F18Rik

MMRRC Submission

042842-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5288 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58831465-58920398 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58874278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 504 (M504K)

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: M504K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: M504K

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: M504K

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

SMART Domains

Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: M504K

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110001I22Rik	T	G	16: 13,677,758	N240K	probably benign	Het
Abcc12	A	T	8: 86,566,539	Y7N	probably damaging	Het
Adcy1	A	C	11: 7,161,351	I881L	probably benign	Het
Aftph	T	C	11: 20,726,994	D205G	probably damaging	Het
Aldh7a1	T	A	18: 56,534,253	N316Y	possibly damaging	Het
Ankrd36	A	G	11: 5,689,340		probably benign	Het
C87414	C	T	5: 93,637,748	M224I	possibly damaging	Het
Ccdc88a	T	G	11: 29,498,416	N1465K	possibly damaging	Het
Ccpg1	G	A	9: 73,013,044	S647N	probably benign	Het
Cep70	T	A	9: 99,281,075	L325Q	probably damaging	Het
Cfap46	A	G	7: 139,613,507		probably null	Het
Cftr	C	T	6: 18,226,129	Q359*	probably null	Het
Chrne	A	T	11: 70,615,087	N457K	possibly damaging	Het
Cntn2	A	G	1: 132,523,677	I438T	probably benign	Het
Cntn4	T	C	6: 106,181,804	L10P	possibly damaging	Het
Copg1	G	T	6: 87,890,207	M87I	possibly damaging	Het
Cyfip1	A	T	7: 55,925,135	M1045L	possibly damaging	Het
Cyp2c29	C	T	19: 39,330,372	P432L	probably damaging	Het
Dcaf11	T	A	14: 55,563,376	D96E	probably damaging	Het
Dmxl2	A	G	9: 54,378,757	S2715P	probably benign	Het
Dnhd1	G	A	7: 105,714,437	E4069K	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,721	N330I	probably damaging	Het
Dpy19l4	G	T	4: 11,304,014	A132D	probably damaging	Het
Duox2	A	G	2: 122,295,136	V330A	probably benign	Het
Dusp11	T	C	6: 85,947,605	*322W	probably null	Het
Dusp8	T	A	7: 142,089,993	Q61L	possibly damaging	Het
Eml3	G	A	19: 8,939,274	G720S	probably damaging	Het
F11	A	G	8: 45,246,796	S418P	probably damaging	Het
Fam91a1	G	A	15: 58,448,394	S645N	probably benign	Het
Fat2	G	A	11: 55,267,656	T3412I	probably benign	Het
Fbxo38	A	G	18: 62,540,971	M13T	probably benign	Het
Fbxo48	G	T	11: 16,954,329	L160F	possibly damaging	Het
Gm10134	T	A	2: 28,506,360		probably benign	Het
Gm11787	T	C	4: 3,511,795		noncoding transcript	Het
Gm14085	C	A	2: 122,522,778	L480I	probably benign	Het
Gpatch8	A	T	11: 102,508,227		probably null	Het
Gucy2g	G	A	19: 55,215,116	A750V	probably damaging	Het
Hephl1	T	C	9: 15,076,854	T653A	possibly damaging	Het
Hmcn2	A	G	2: 31,460,321	T5077A	probably benign	Het
Ifitm3	T	C	7: 141,010,641	N2S	probably benign	Het
Ighe	T	C	12: 113,271,472	H356R	probably benign	Het
Ighv10-3	T	A	12: 114,523,505	M99L	probably benign	Het
Izumo4	C	A	10: 80,702,805	C30*	probably null	Het
Jag1	A	T	2: 137,095,544	H303Q	possibly damaging	Het
Kif24	T	C	4: 41,395,373	E500G	probably benign	Het
Kng1	A	T	16: 23,079,092	D414V	probably damaging	Het
Loxhd1	A	C	18: 77,363,612	D410A	probably damaging	Het
Ltn1	T	C	16: 87,416,011	K554R	possibly damaging	Het
Ly75	A	G	2: 60,303,641	C1547R	probably damaging	Het
Ms4a6d	A	T	19: 11,587,136	S124T	possibly damaging	Het
Mtfr2	A	G	10: 20,357,702	D339G	probably damaging	Het
Myh10	T	A	11: 68,801,608	L1369Q	probably damaging	Het
Myh11	A	T	16: 14,208,008	V1366D	possibly damaging	Het
Nadsyn1	A	G	7: 143,803,286	V491A	possibly damaging	Het
Nav3	T	C	10: 109,853,105	N437S	probably benign	Het
Ncf1	A	G	5: 134,221,805	L373P	probably damaging	Het
Neb	A	T	2: 52,189,861	I85N	probably damaging	Het
Nktr	A	G	9: 121,748,593	K576E	probably benign	Het
Nmur2	T	A	11: 56,040,214	I224F	probably damaging	Het
Oas3	A	G	5: 120,756,990	F978S	probably damaging	Het
Olfr1115	C	T	2: 87,252,483	P182L	probably benign	Het
Olfr1331	T	C	4: 118,869,575	S264P	probably damaging	Het
Olfr330	A	T	11: 58,529,482	M168K	probably damaging	Het
Olfr457	T	A	6: 42,471,252	I309F	probably benign	Het
Olfr484	T	C	7: 108,125,168	T32A	probably benign	Het
Pcyox1	A	T	6: 86,392,354		probably null	Het
Pdcd7	G	A	9: 65,358,692	W477*	probably null	Het
Pitpnm1	T	C	19: 4,103,435	F197S	probably damaging	Het
Plce1	C	A	19: 38,760,091	N1755K	probably damaging	Het
Pnpla7	C	A	2: 25,041,019	P882Q	probably damaging	Het
Pold2	A	G	11: 5,876,760	L58P	probably damaging	Het
Pomt1	C	G	2: 32,244,299	Y277*	probably null	Het
Pou4f2	A	G	8: 78,436,329	Y26H	unknown	Het
Ppm1e	A	T	11: 87,358,551	L118Q	possibly damaging	Het
Prdx2	T	A	8: 84,971,673	Y164*	probably null	Het
Prkra	T	G	2: 76,639,278	T146P	probably damaging	Het
Prpf8	A	G	11: 75,495,799	D1038G	probably damaging	Het
Rab4a	A	T	8: 123,827,374	I16L	probably benign	Het
Rai2	A	G	X: 161,778,640	N363S	probably benign	Het
Ranbp17	A	T	11: 33,219,241	V991D	possibly damaging	Het
Rimbp2	G	A	5: 128,788,592	T557M	probably benign	Het
Rmi1	G	A	13: 58,409,466	G510R	probably damaging	Het
Sdad1	A	G	5: 92,286,825	*687Q	probably null	Het
Sema6d	T	C	2: 124,664,246	L720P	probably damaging	Het
Setx	T	G	2: 29,134,033		probably null	Het
Sgsm3	T	C	15: 81,007,999	V256A	probably benign	Het
Soga3	A	G	10: 29,196,770	D686G	probably benign	Het
Sppl2c	T	A	11: 104,187,301	I309K	possibly damaging	Het
Stard9	A	G	2: 120,700,630	E2456G	probably damaging	Het
Strn3	C	G	12: 51,648,020	R320P	probably damaging	Het
Supv3l1	A	T	10: 62,430,596	N600K	possibly damaging	Het
Syne2	T	A	12: 76,099,338	S6377T	possibly damaging	Het
Tas2r123	A	T	6: 132,847,227	H29L	probably benign	Het
Tbl3	C	T	17: 24,705,970	V52M	possibly damaging	Het
Tbp	A	G	17: 15,507,347	I145V	probably benign	Het
Tcf20	A	T	15: 82,855,709	S514T	possibly damaging	Het
Tgm4	A	G	9: 123,056,494	Y367C	probably damaging	Het
Tle1	C	T	4: 72,141,844	V258M	probably damaging	Het
Tln1	C	T	4: 43,540,661	V1447I	probably benign	Het
Tnfrsf11b	C	T	15: 54,278,226	A8T	probably benign	Het
Trim80	A	T	11: 115,448,017	T558S	probably benign	Het
Trmt6	C	A	2: 132,808,783	A302S	probably benign	Het
Tsen15	C	T	1: 152,383,380	V76I	probably damaging	Het
Ttc17	A	T	2: 94,303,640	W1067R	probably damaging	Het
Ucn3	A	T	13: 3,941,474	F59L	probably benign	Het
Ulk3	T	A	9: 57,590,740	I108N	possibly damaging	Het
Vmn2r94	A	C	17: 18,244,466	Y521D	probably damaging	Het
Vps45	T	C	3: 96,057,774	M1V	probably null	Het
Vta1	C	A	10: 14,705,399	L21F	probably damaging	Het
Zdhhc21	C	T	4: 82,847,692	G2D	probably damaging	Het
Zfp169	A	T	13: 48,490,275	C459S	possibly damaging	Het
Zfp90	C	T	8: 106,425,368	T571M	probably damaging	Het
Zswim8	A	T	14: 20,718,871	N1119I	possibly 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
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'- TACTGGGTGTCTGAACCAGC -3'
(R):5'- GTTAGATCCCAGTCCACAAGAGC -3'

Sequencing Primer
(F):5'- GCTCAGTGCACACCGAATG -3'
(R):5'- GTCCACAAGAGCCAGCTG -3'

Posted On

2016-08-04