Mutagenetix > Incidental Mutation

Incidental Mutation 'R1432:Herc3'

162297

Institutional Source

Beutler Lab

Gene Symbol

Herc3

Ensembl Gene

ENSMUSG00000029804

Gene Name

hect domain and RLD 3

Synonyms

5730409F18Rik

MMRRC Submission

039487-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58808450-58897383 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58893827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 968 (T968S)

Ref Sequence

ENSEMBL: ENSMUSP00000040025 (fasta)

Gene Model

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

AlphaFold

A6H6S0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041401
AA Change: T968S

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804
AA Change: T968S

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: ENSMUST00000131132

Meta Mutation Damage Score

0.3863

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.4%
20x: 86.1%

Validation Efficiency

98% (90/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,217,361 (GRCm39)		probably null	Het
9130401M01Rik	A	T	15: 57,892,256 (GRCm39)	L117Q	probably damaging	Het
Abcb1b	A	G	5: 8,887,771 (GRCm39)	K886E	possibly damaging	Het
Acaa2	A	T	18: 74,920,198 (GRCm39)	I9F	probably damaging	Het
Acap2	A	T	16: 30,929,901 (GRCm39)	S386T	probably damaging	Het
Acsm2	A	T	7: 119,172,798 (GRCm39)	I138F	possibly damaging	Het
Agl	T	C	3: 116,540,342 (GRCm39)	Y1424C	probably damaging	Het
Aoc1l1	T	A	6: 48,952,588 (GRCm39)	F171Y	probably damaging	Het
Apc2	T	C	10: 80,148,183 (GRCm39)	V1079A	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Armc8	C	T	9: 99,405,185 (GRCm39)		probably benign	Het
Catsperb	A	G	12: 101,588,476 (GRCm39)	Y953C	probably damaging	Het
Cdk13	G	A	13: 17,893,001 (GRCm39)	A720V	probably damaging	Het
Chka	T	C	19: 3,924,809 (GRCm39)		probably benign	Het
Clcc1	T	C	3: 108,575,418 (GRCm39)	I165T	probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Dip2c	C	A	13: 9,603,340 (GRCm39)	P297Q	probably damaging	Het
Dnah17	A	T	11: 117,914,153 (GRCm39)	W4429R	probably damaging	Het
Dram2	T	C	3: 106,478,082 (GRCm39)	V138A	possibly damaging	Het
Dus4l	T	C	12: 31,698,770 (GRCm39)	N78S	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Ebf1	T	C	11: 44,895,533 (GRCm39)		probably benign	Het
Epm2a	T	A	10: 11,266,587 (GRCm39)	Y111N	probably damaging	Het
Gm773	T	C	X: 55,247,377 (GRCm39)	T52A	probably benign	Het
Gpam	C	A	19: 55,067,693 (GRCm39)	M483I	probably damaging	Het
Gpr12	T	C	5: 146,520,235 (GRCm39)	H229R	probably damaging	Het
Gpr149	T	C	3: 62,438,439 (GRCm39)	T573A	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hells	T	A	19: 38,945,628 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,372,751 (GRCm39)	N3102K	probably benign	Het
Ift88	A	G	14: 57,674,736 (GRCm39)	Y69C	probably benign	Het
Incenp	G	A	19: 9,862,890 (GRCm39)	T388M	unknown	Het
Jrkl	A	G	9: 13,245,337 (GRCm39)	F108S	probably benign	Het
Khdc1a	A	G	1: 21,420,542 (GRCm39)	E54G	possibly damaging	Het
Kif6	T	A	17: 49,927,728 (GRCm39)	F58L	probably damaging	Het
Klk14	T	C	7: 43,344,342 (GRCm39)	S218P	probably damaging	Het
Kmt2e	T	C	5: 23,655,319 (GRCm39)	M19T	probably benign	Het
Llgl1	G	T	11: 60,599,380 (GRCm39)	G454C	probably damaging	Het
Lyrm4	A	G	13: 36,276,898 (GRCm39)	V33A	probably benign	Het
Mcam	C	T	9: 44,052,588 (GRCm39)	R606C	probably damaging	Het
Mgam	T	A	6: 40,733,301 (GRCm39)	M692K	probably damaging	Het
Mmp28	C	T	11: 83,333,765 (GRCm39)	R392H	probably damaging	Het
Mpdz	G	A	4: 81,210,788 (GRCm39)	T1699M	probably damaging	Het
Mrps11	T	C	7: 78,433,310 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,218,866 (GRCm39)	N504S	probably benign	Het
Msmo1	A	G	8: 65,180,650 (GRCm39)		probably benign	Het
Mst1	A	G	9: 107,961,403 (GRCm39)	E571G	probably benign	Het
Myh14	T	C	7: 44,265,723 (GRCm39)	E1585G	probably damaging	Het
Myrfl	A	G	10: 116,613,332 (GRCm39)	C824R	probably damaging	Het
Ncapd3	C	T	9: 26,981,168 (GRCm39)		probably benign	Het
Nlrp4a	G	GGTTCTTC	7: 26,163,622 (GRCm39)		probably null	Het
Nos1	C	T	5: 118,087,684 (GRCm39)		probably benign	Het
Notch3	T	C	17: 32,383,198 (GRCm39)	S47G	probably benign	Het
Npsr1	A	G	9: 24,221,371 (GRCm39)	Y122C	probably damaging	Het
Or10ak12	T	C	4: 118,666,435 (GRCm39)	M209V	probably benign	Het
Or1j11	C	T	2: 36,311,655 (GRCm39)	L82F	probably damaging	Het
Or5a1	G	T	19: 12,097,603 (GRCm39)	R158S	possibly damaging	Het
Or6c1b	C	T	10: 129,272,807 (GRCm39)	T42I	probably damaging	Het
Or6k2	T	A	1: 173,986,483 (GRCm39)	V48E	possibly damaging	Het
Or8b9	T	A	9: 37,766,548 (GRCm39)	L145M	possibly damaging	Het
Otog	G	T	7: 45,950,007 (GRCm39)	V2490F	probably damaging	Het
Pibf1	T	C	14: 99,350,425 (GRCm39)	V191A	probably benign	Het
Pip	A	G	6: 41,826,852 (GRCm39)	M66V	probably benign	Het
Plxna2	C	T	1: 194,449,771 (GRCm39)	R830C	probably benign	Het
Prkca	A	T	11: 107,830,346 (GRCm39)	V248E	probably benign	Het
Prmt7	T	A	8: 106,963,916 (GRCm39)	L253*	probably null	Het
Prrc2a	G	T	17: 35,372,888 (GRCm39)		probably benign	Het
Rasgrf1	A	G	9: 89,894,853 (GRCm39)	D1091G	probably benign	Het
Rbm7	C	A	9: 48,401,245 (GRCm39)	G161V	probably benign	Het
Scn1a	A	T	2: 66,152,773 (GRCm39)	I736N	probably damaging	Het
Skint6	A	G	4: 112,726,721 (GRCm39)		probably benign	Het
Slc22a2	C	T	17: 12,803,195 (GRCm39)	H10Y	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stam2	A	G	2: 52,604,821 (GRCm39)		probably benign	Het
Stk40	T	C	4: 126,030,626 (GRCm39)	L282P	probably damaging	Het
Tas2r110	A	G	6: 132,845,331 (GRCm39)	N121D	probably damaging	Het
Tbc1d32	A	G	10: 55,893,758 (GRCm39)	Y1272H	probably damaging	Het
Thoc2l	T	C	5: 104,665,970 (GRCm39)	F164S	probably damaging	Het
Tmem131l	T	C	3: 83,836,021 (GRCm39)	D696G	probably damaging	Het
Trdmt1	T	C	2: 13,524,657 (GRCm39)	Y266C	probably damaging	Het
Trim5	G	T	7: 103,928,726 (GRCm39)	H72N	probably benign	Het
Trim5	A	C	7: 103,928,728 (GRCm39)	L71R	probably benign	Het
Twf2	T	A	9: 106,092,012 (GRCm39)		probably benign	Het
Ubap2l	T	C	3: 89,926,635 (GRCm39)	T580A	probably benign	Het
Ugt1a10	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Unc5a	A	G	13: 55,152,285 (GRCm39)		probably benign	Het
Vmn2r85	T	C	10: 130,261,155 (GRCm39)	N394S	possibly damaging	Het
Wrn	A	T	8: 33,809,169 (GRCm39)		probably benign	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
R1333:Herc3	UTSW	6	58,864,478 (GRCm39)	missense	probably damaging	1.00
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'- CTGGTCTTCACATGCGTTGTGC -3'
(R):5'- CCCCTCGGGTTTACACTATGAACAAG -3'

Sequencing Primer
(F):5'- ATCCGGTGTGTGCTGTAATC -3'
(R):5'- caatcctcctgtctcaacctc -3'

Posted On

2014-03-14