Mutagenetix > Incidental Mutation

Incidental Mutation 'R4887:Herc3'

376966

Institutional Source

Beutler Lab

Gene Symbol

Herc3

Ensembl Gene

ENSMUSG00000029804

Gene Name

hect domain and RLD 3

Synonyms

5730409F18Rik

MMRRC Submission

041979-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4887 (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 58887499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 706 (V706A)

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: V706A

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

SMART Domains

Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804
AA Change: V706A

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: V706A

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

SMART Domains

Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: V706A

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,876,324	I22F	possibly damaging	Het
2310009B15Rik	A	C	1: 138,852,165	Y116*	probably null	Het
4930548H24Rik	A	G	5: 31,486,252	I109V	probably benign	Het
Acer3	T	C	7: 98,257,701	T91A	possibly damaging	Het
Adam12	T	C	7: 134,172,821	K20E	possibly damaging	Het
Adamtsl3	T	C	7: 82,574,614	V275A	possibly damaging	Het
Afg1l	C	T	10: 42,454,378	V98I	probably benign	Het
Alpk1	C	T	3: 127,673,475	G1052R	probably damaging	Het
Anln	A	T	9: 22,380,188	S115T	possibly damaging	Het
Apob	T	A	12: 8,013,099	N3827K	probably damaging	Het
Aqr	G	A	2: 114,150,509	L264F	probably damaging	Het
Arhgap33	T	C	7: 30,532,192	S123G	probably damaging	Het
Arvcf	C	T	16: 18,398,113	R333*	probably null	Het
Brca2	T	A	5: 150,556,937	L2724Q	probably damaging	Het
Btbd11	C	T	10: 85,387,378	T17M	unknown	Het
C2cd6	T	A	1: 59,094,734	T43S	probably benign	Het
Cacna1h	A	G	17: 25,377,287	V1920A	possibly damaging	Het
Capsl	A	T	15: 9,457,772	I26F	possibly damaging	Het
Card10	A	T	15: 78,781,524	V673E	possibly damaging	Het
Ccar1	A	G	10: 62,753,218	S829P	unknown	Het
Cdc42bpa	T	C	1: 180,144,635	M1334T	possibly damaging	Het
Ceacam2	C	T	7: 25,520,832	C267Y	probably benign	Het
Cep68	G	A	11: 20,239,239	T591M	probably benign	Het
Chil4	T	C	3: 106,204,144	K218R	probably benign	Het
Cldn14	G	T	16: 93,919,859	T33K	possibly damaging	Het
Copa	T	A	1: 172,092,276	C140S	probably benign	Het
Coq6	T	C	12: 84,372,296	L358P	probably damaging	Het
Cyfip1	C	T	7: 55,872,068	P40L	probably damaging	Het
Dennd2a	A	C	6: 39,497,159	S414A	probably benign	Het
Dpm1	T	C	2: 168,217,759	N139S	probably benign	Het
Dpp7	T	A	2: 25,352,758		probably null	Het
Ednrb	T	C	14: 103,820,011	I372V	possibly damaging	Het
Edrf1	G	T	7: 133,658,610	M83I	probably damaging	Het
Fam135a	G	A	1: 24,024,253	Q1087*	probably null	Het
Fancg	T	C	4: 43,006,866	T275A	probably benign	Het
Fbn1	T	A	2: 125,309,774	H2520L	probably damaging	Het
Fmn2	T	C	1: 174,581,961	S587P	unknown	Het
Foxr2	A	G	X: 153,130,316	Q61R	probably damaging	Het
Frrs1	A	G	3: 116,902,416	*124W	probably null	Het
Gm16432	A	G	1: 178,103,949	Y478C	unknown	Het
Gm7535	T	A	17: 17,911,071		probably benign	Het
Gm884	T	C	11: 103,614,872	H2090R	probably benign	Het
Gm996	G	A	2: 25,579,747	R51C	possibly damaging	Het
Hist1h4a	T	C	13: 23,760,952	D69G	probably damaging	Het
Hivep3	A	G	4: 120,122,934	E1723G	probably damaging	Het
Igsf9b	A	G	9: 27,322,650	I382V	probably benign	Het
Ints1	G	T	5: 139,771,156	T467N	possibly damaging	Het
Iqca	G	A	1: 90,045,701	T783M	probably damaging	Het
Kng1	A	G	16: 23,067,698	K131R	possibly damaging	Het
Krt35	T	C	11: 100,093,130	Y348C	probably damaging	Het
Ldlrad3	A	G	2: 102,113,536	C64R	probably damaging	Het
Lilr4b	C	T	10: 51,484,520	A272V	possibly damaging	Het
Ltn1	A	T	16: 87,398,809	C1276*	probably null	Het
Matn1	G	A	4: 130,952,114	A360T	probably benign	Het
Minpp1	G	A	19: 32,498,384	V306I	probably benign	Het
Mkx	G	A	18: 6,992,904	R127W	probably damaging	Het
Mrpl48	G	T	7: 100,546,409		probably benign	Het
Ms4a2	A	G	19: 11,618,429	L166S	possibly damaging	Het
Mtus2	T	A	5: 148,077,103	Y235*	probably null	Het
Myh4	G	T	11: 67,241,054	W113C	probably damaging	Het
Nav2	T	A	7: 49,548,434	C1270*	probably null	Het
Ncoa5	A	G	2: 165,002,150	L111P	probably damaging	Het
Nup107	T	C	10: 117,770,478	Y453C	probably damaging	Het
Oca2	C	T	7: 56,330,358	Q604*	probably null	Het
Olfr116	A	T	17: 37,623,891	V248D	probably damaging	Het
Olfr1339	A	C	4: 118,734,688	H53P	probably benign	Het
Olfr482	T	A	7: 108,095,096	N158I	probably benign	Het
Olfr525	T	C	7: 140,323,101	M134T	probably benign	Het
Olfr952	T	C	9: 39,426,235	T279A	possibly damaging	Het
Pde3a	G	T	6: 141,470,942	G514V	possibly damaging	Het
Pik3cb	A	T	9: 99,101,328	C76S	probably damaging	Het
Plk1	T	C	7: 122,168,605	V411A	probably damaging	Het
Pole	C	T	5: 110,324,753	P1600L	probably damaging	Het
Prr36	T	C	8: 4,210,881	T979A	probably benign	Het
Rdh7	T	A	10: 127,885,721	T229S	probably benign	Het
Rnpepl1	A	T	1: 92,915,113	T140S	probably damaging	Het
Rps6kc1	A	T	1: 190,798,694	S947T	probably benign	Het
Rtl1	A	G	12: 109,591,704	F1234L	probably damaging	Het
Sdc1	G	A	12: 8,791,708	M279I	probably damaging	Het
Siae	T	C	9: 37,627,800	L169P	possibly damaging	Het
Slc22a22	C	T	15: 57,249,752	V364I	probably benign	Het
Sltm	G	T	9: 70,588,978	V932F	probably damaging	Het
Smad1	A	G	8: 79,349,752	L279P	probably damaging	Het
Spag17	G	T	3: 100,050,831	G935V	probably damaging	Het
Srgap3	A	G	6: 112,746,934	S546P	probably damaging	Het
Stxbp5	T	C	10: 9,809,100	I519V	probably benign	Het
Syt16	A	T	12: 74,129,386	I10F	probably damaging	Het
Trim43b	C	G	9: 89,091,312	G123R	probably damaging	Het
Ubr3	T	C	2: 70,013,131	Y1572H	probably damaging	Het
Umodl1	G	A	17: 31,008,665	R1324H	probably benign	Het
Vmn2r44	A	T	7: 8,377,986	W303R	probably benign	Het
Wdr93	T	C	7: 79,785,774	Y684H	probably damaging	Het
Wnk2	G	A	13: 49,071,002	R268C	probably damaging	Het
Zfp438	C	T	18: 5,213,776	C394Y	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
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'- GTGCTTCTCATTCTGGTAGAGC -3'
(R):5'- TCTGGTGACTGCACAAAAGG -3'

Sequencing Primer
(F):5'- ATTCTGGTAGAGCACACTCCTCAG -3'
(R):5'- CTGCACAAAAGGAGGTGATTAGATTC -3'

Posted On

2016-03-17