Mutagenetix > Incidental Mutation

Incidental Mutation 'R8814:Hace1'

672618

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: 0.448) question?

Stock #

R8814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45577829-45712345 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45652701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 346 (Y346C)

Ref Sequence

ENSEMBL: ENSMUSP00000039206 (fasta)

Gene Model

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

AlphaFold

Q3U0D9

Predicted Effect

probably damaging
Transcript: ENSMUST00000037044
AA Change: Y346C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: Y346C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	C	6: 129,325,604		probably benign	Het
Brd7	A	G	8: 88,345,154	V361A	probably benign	Het
C6	A	T	15: 4,792,784	Q595L	probably benign	Het
Cacna2d3	T	A	14: 29,097,815	Y532F	probably damaging	Het
Cep85l	A	T	10: 53,348,969	Y175N	probably benign	Het
Clca3a2	G	T	3: 144,797,764	N808K	probably benign	Het
Cpsf4	T	G	5: 145,178,868	S201R	probably benign	Het
Crispld2	A	G	8: 120,015,345	H144R	possibly damaging	Het
Cyp1b1	T	C	17: 79,713,359	E318G	probably benign	Het
Fam109a	G	T	5: 121,853,045	V157L	probably benign	Het
Fer1l4	A	G	2: 156,052,243	F47L	probably benign	Het
Flnb	A	G	14: 7,927,409	D1873G	probably damaging	Het
Gm47995	A	G	1: 151,198,988	M181V	probably benign	Het
Hemgn	G	T	4: 46,400,717	Q48K	possibly damaging	Het
Hhip	T	C	8: 80,051,472	D143G	probably damaging	Het
Ift74	C	T	4: 94,662,636	Q342*	probably null	Het
Kng2	A	T	16: 23,004,011	I197N	probably benign	Het
Lcat	G	A	8: 105,941,970	P167S	probably damaging	Het
Lmntd2	G	A	7: 141,210,084	R672W	probably damaging	Het
Mroh2b	G	T	15: 4,941,625	L1037F	possibly damaging	Het
Msh4	A	G	3: 153,872,320	S640P	probably damaging	Het
Mterf1b	T	C	5: 4,197,456	S366P	probably damaging	Het
Nrxn1	A	T	17: 90,630,101	C643S	probably damaging	Het
Olfr1164	T	A	2: 88,092,971	I322F	probably benign	Het
Olfr1496	T	A	19: 13,781,533	I305N	possibly damaging	Het
Olfr485	T	A	7: 108,159,065	K269N	probably benign	Het
Olfr605	A	G	7: 103,442,913	V70A	probably benign	Het
Olfr709-ps1	T	A	7: 106,926,818	I214F	probably damaging	Het
Pask	C	A	1: 93,320,585	R998L	probably benign	Het
Pcdh8	A	G	14: 79,768,897	L742P	probably benign	Het
Psma3	A	G	12: 70,978,806	E32G	probably benign	Het
Samd11	T	C	4: 156,247,884	E500G	probably benign	Het
Scarb1	A	T	5: 125,294,092	D305E	probably benign	Het
Serpinb6b	A	G	13: 32,978,304	H362R	possibly damaging	Het
Siglec1	G	A	2: 131,072,744	T1484M	probably damaging	Het
Slfn8	A	G	11: 83,016,679	V346A	possibly damaging	Het
Slitrk6	G	C	14: 110,749,938	A779G	probably benign	Het
Soga1	C	T	2: 157,030,531	W965*	probably null	Het
Sub1	A	C	15: 11,984,231	V124G	probably damaging	Het
Tbc1d32	A	G	10: 56,196,592	I277T	possibly damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trappc10	A	G	10: 78,202,919	Y780H	probably damaging	Het
Trim28	T	A	7: 13,028,527	N359K	probably damaging	Het
Tspan15	G	A	10: 62,188,056	T281M	probably benign	Het
Uaca	A	G	9: 60,866,398	N396D	possibly damaging	Het
Vmn1r84	A	G	7: 12,362,458	S103P	probably damaging	Het
Vmn2r22	C	G	6: 123,637,830	R267T	probably damaging	Het
Vmn2r7	A	G	3: 64,716,563	I112T	probably benign	Het
Vmn2r70	T	A	7: 85,565,961	I122F	probably benign	Het
Vmn2r79	C	G	7: 87,002,506	T371S	probably benign	Het
Vps8	T	C	16: 21,576,650	L1230P	probably damaging	Het
Zfp26	A	T	9: 20,438,434	V278D	probably benign	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
R8022:Hace1	UTSW	10	45700970	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
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
R9644:Hace1	UTSW	10	45649905	missense	probably benign	0.01
R9656:Hace1	UTSW	10	45671449	missense	probably benign	0.00
R9762:Hace1	UTSW	10	45648918	missense	probably benign	0.03
Z1176:Hace1	UTSW	10	45686662	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGAGACAGTTGGTTAGTGAAC -3'
(R):5'- AGCACGAATGGGATTGATTTATGTG -3'

Sequencing Primer
(F):5'- GGTTCCACCTAATGTGTTC -3'
(R):5'- TGTAAGAAAAACTTGAAAAGCTTACC -3'

Posted On

2021-04-30