Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Hace1'

617466

Institutional Source

Beutler Lab

Gene Symbol

Hace1

Ensembl Gene

ENSMUSG00000038822

Gene Name

HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1

Synonyms

A730034A22Rik, 1700042J16Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.485) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45577829-45712345 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45700970 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 820 (V820A)

Ref Sequence

ENSEMBL: ENSMUSP00000039206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037044]

AlphaFold

Q3U0D9

Predicted Effect

probably damaging
Transcript: ENSMUST00000037044
AA Change: V820A

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

SMART Domains

Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: V820A

Domain	Start	End	E-Value	Type
ANK	64	93	3.23e-4	SMART
ANK	97	126	7.76e-7	SMART
ANK	130	159	8.26e-2	SMART
ANK	163	192	1.94e-7	SMART
ANK	196	227	1.65e-1	SMART
ANK	228	257	5.98e1	SMART
Blast:HECTc	372	522	7e-87	BLAST
HECTc	572	909	1.76e-138	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131406
AA Change: V210A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000118554
Gene: ENSMUSG00000038822
AA Change: V210A

Domain	Start	End	E-Value	Type
HECTc	7	300	2.63e-96	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150511

SMART Domains

Protein: ENSMUSP00000117985
Gene: ENSMUSG00000038822

Domain	Start	End	E-Value	Type
HECTc	55	329	1.76e-74	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit increased spontaneous and induced tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236	S296A	unknown	Het
Ambp	G	T	4: 63,144,197	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149		probably null	Het
Aspa	A	C	11: 73,322,206	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108	S247T	probably benign	Het
Ces1b	A	G	8: 93,069,315		probably null	Het
Chd7	T	A	4: 8,751,605	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,977,668	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446	T122S	probably benign	Het
Igf2r	T	A	17: 12,718,795	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561	H49Y	probably benign	Het
Magi1	T	C	6: 93,697,365	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613	R782Q	probably damaging	Het
Mical2	A	T	7: 112,303,767	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510	I88N	probably damaging	Het
Oas3	A	G	5: 120,756,966	I986T	possibly damaging	Het
Olfr809	A	T	10: 129,776,785	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479	R46G		Het
Rrbp1	C	A	2: 143,956,792	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232	T676S	probably benign	Het
Setdb1	A	T	3: 95,338,599	F672I	probably damaging	Het
Setdb1	T	A	3: 95,347,085	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,625,086	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827	Q57*	probably null	Het
Trio	C	G	15: 27,749,866	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568		probably null	Het

Other mutations in Hace1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00847:Hace1	APN	10	45672357	nonsense	probably null
IGL01456:Hace1	APN	10	45709998	splice site	probably benign
IGL02122:Hace1	APN	10	45618604	missense	probably damaging	1.00
IGL02217:Hace1	APN	10	45590375	splice site	probably null
IGL02493:Hace1	APN	10	45588419	missense	probably damaging	0.98
IGL02596:Hace1	APN	10	45700640	missense	possibly damaging	0.55
IGL02619:Hace1	APN	10	45671434	unclassified	probably benign
IGL03163:Hace1	APN	10	45672605	missense	probably damaging	0.97
R0609:Hace1	UTSW	10	45648869	missense	probably damaging	1.00
R0853:Hace1	UTSW	10	45648683	missense	probably damaging	1.00
R2038:Hace1	UTSW	10	45700625	missense	probably benign	0.03
R2212:Hace1	UTSW	10	45648675	missense	possibly damaging	0.50
R2328:Hace1	UTSW	10	45648945	missense	probably benign	0.43
R2881:Hace1	UTSW	10	45671134	missense	probably benign	0.10
R3005:Hace1	UTSW	10	45648863	missense	probably damaging	0.96
R3414:Hace1	UTSW	10	45648675	missense	possibly damaging	0.50
R3930:Hace1	UTSW	10	45711508	missense	probably benign	0.37
R4014:Hace1	UTSW	10	45588374	splice site	probably benign
R4335:Hace1	UTSW	10	45709961	missense	probably damaging	0.99
R4547:Hace1	UTSW	10	45672555	splice site	probably null
R4812:Hace1	UTSW	10	45686603	missense	probably benign	0.00
R4996:Hace1	UTSW	10	45649950	missense	probably benign	0.17
R5858:Hace1	UTSW	10	45711525	missense	possibly damaging	0.58
R5995:Hace1	UTSW	10	45670391	missense	probably benign	0.00
R6049:Hace1	UTSW	10	45686662	missense	probably damaging	1.00
R6111:Hace1	UTSW	10	45589510	missense	possibly damaging	0.92
R6195:Hace1	UTSW	10	45670443	missense	possibly damaging	0.70
R6216:Hace1	UTSW	10	45618547	missense	probably benign
R6233:Hace1	UTSW	10	45670443	missense	possibly damaging	0.70
R6237:Hace1	UTSW	10	45648890	missense	probably benign
R6467:Hace1	UTSW	10	45590266	critical splice acceptor site	probably null
R6930:Hace1	UTSW	10	45618502	missense	probably damaging	1.00
R7325:Hace1	UTSW	10	45589507	nonsense	probably null
R7401:Hace1	UTSW	10	45670626	missense	probably damaging	1.00
R7426:Hace1	UTSW	10	45605540	missense	probably damaging	1.00
R7471:Hace1	UTSW	10	45700979	missense	probably benign	0.06
R7533:Hace1	UTSW	10	45711474	missense	probably benign	0.03
R7661:Hace1	UTSW	10	45605553	missense	probably damaging	1.00
R7873:Hace1	UTSW	10	45672787	missense	possibly damaging	0.92
R7938:Hace1	UTSW	10	45686696	missense	probably benign	0.11
R7995:Hace1	UTSW	10	45589492	missense	probably damaging	1.00
R8017:Hace1	UTSW	10	45638382	missense	probably damaging	1.00
R8019:Hace1	UTSW	10	45638382	missense	probably damaging	1.00
R8292:Hace1	UTSW	10	45711461	nonsense	probably null
R8717:Hace1	UTSW	10	45605598	missense	unknown
R8757:Hace1	UTSW	10	45670443	missense	possibly damaging	0.70
R8814:Hace1	UTSW	10	45652701	missense	probably damaging	0.99
R8823:Hace1	UTSW	10	45648860	missense	probably damaging	1.00
R8898:Hace1	UTSW	10	45700670	missense	probably benign	0.01
R9143:Hace1	UTSW	10	45686668	missense	probably damaging	0.99
R9297:Hace1	UTSW	10	45652673	missense	probably benign	0.00
R9318:Hace1	UTSW	10	45652673	missense	probably benign	0.00
R9365:Hace1	UTSW	10	45709996	critical splice donor site	probably null
R9492:Hace1	UTSW	10	45671134	missense	probably benign	0.10
Z1176:Hace1	UTSW	10	45686662	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTGGGGATATTGCATATGAAAGC -3'
(R):5'- CTGAGTGGCTTTACTGTTAAACCAAAC -3'

Sequencing Primer
(F):5'- GGGATATTGCATATGAAAGCCTTTTG -3'
(R):5'- GACAGAACAATGACTCTTCA -3'

Posted On

2020-01-23