Mutagenetix > Incidental Mutation

Incidental Mutation 'R3005:Hace1'

257421

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

Accession Numbers

Essential gene?

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

Stock #

R3005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45453925-45588441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45524959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 242 (G242R)

Ref Sequence

ENSEMBL: ENSMUSP00000039206 (fasta)

Gene Model

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

AlphaFold

Q3U0D9

Predicted Effect

probably damaging
Transcript: ENSMUST00000037044
AA Change: G242R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: G242R

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

noncoding transcript
Transcript: ENSMUST00000142956

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cep162	C	A	9: 87,114,113 (GRCm39)	V320L	probably benign	Het
Cnga1	T	A	5: 72,762,450 (GRCm39)	I355F	probably damaging	Het
Csnk1e	T	C	15: 79,323,005 (GRCm39)	I15V	probably benign	Het
Dele1	T	A	18: 38,393,012 (GRCm39)	N405K	possibly damaging	Het
Exosc8	T	C	3: 54,639,568 (GRCm39)		probably null	Het
Garre1	T	C	7: 33,984,209 (GRCm39)	E138G	probably damaging	Het
Gstm3	G	T	3: 107,874,923 (GRCm39)	Q110K	probably benign	Het
Lcn6	T	A	2: 25,567,261 (GRCm39)		probably null	Het
Msh6	A	G	17: 88,295,713 (GRCm39)	E1088G	probably benign	Het
Nlrp4c	G	A	7: 6,068,524 (GRCm39)	V142M	probably benign	Het
Nup50	G	A	15: 84,813,661 (GRCm39)		probably null	Het
Or51g2	C	T	7: 102,622,465 (GRCm39)	V245I	possibly damaging	Het
Ppp2r5a	A	T	1: 191,091,173 (GRCm39)	F218Y	probably damaging	Het
Ptov1	T	C	7: 44,513,886 (GRCm39)	N52S	probably damaging	Het
Rif1	G	A	2: 51,972,776 (GRCm39)	A303T	probably damaging	Het
Ror1	T	A	4: 100,298,961 (GRCm39)	V778E	probably damaging	Het
Tcaf3	A	T	6: 42,570,978 (GRCm39)	L258H	probably damaging	Het
Utp20	C	A	10: 88,613,317 (GRCm39)	K1321N	probably damaging	Het
Vmn2r54	T	A	7: 12,349,221 (GRCm39)	Q787L	probably benign	Het

Other mutations in Hace1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00847:Hace1	APN	10	45,548,453 (GRCm39)	nonsense	probably null
IGL01456:Hace1	APN	10	45,586,094 (GRCm39)	splice site	probably benign
IGL02122:Hace1	APN	10	45,494,700 (GRCm39)	missense	probably damaging	1.00
IGL02217:Hace1	APN	10	45,466,471 (GRCm39)	splice site	probably null
IGL02493:Hace1	APN	10	45,464,515 (GRCm39)	missense	probably damaging	0.98
IGL02596:Hace1	APN	10	45,576,736 (GRCm39)	missense	possibly damaging	0.55
IGL02619:Hace1	APN	10	45,547,530 (GRCm39)	unclassified	probably benign
IGL03163:Hace1	APN	10	45,548,701 (GRCm39)	missense	probably damaging	0.97
R0609:Hace1	UTSW	10	45,524,965 (GRCm39)	missense	probably damaging	1.00
R0853:Hace1	UTSW	10	45,524,779 (GRCm39)	missense	probably damaging	1.00
R2038:Hace1	UTSW	10	45,576,721 (GRCm39)	missense	probably benign	0.03
R2212:Hace1	UTSW	10	45,524,771 (GRCm39)	missense	possibly damaging	0.50
R2328:Hace1	UTSW	10	45,525,041 (GRCm39)	missense	probably benign	0.43
R2881:Hace1	UTSW	10	45,547,230 (GRCm39)	missense	probably benign	0.10
R3414:Hace1	UTSW	10	45,524,771 (GRCm39)	missense	possibly damaging	0.50
R3930:Hace1	UTSW	10	45,587,604 (GRCm39)	missense	probably benign	0.37
R4014:Hace1	UTSW	10	45,464,470 (GRCm39)	splice site	probably benign
R4335:Hace1	UTSW	10	45,586,057 (GRCm39)	missense	probably damaging	0.99
R4547:Hace1	UTSW	10	45,548,651 (GRCm39)	splice site	probably null
R4812:Hace1	UTSW	10	45,562,699 (GRCm39)	missense	probably benign	0.00
R4996:Hace1	UTSW	10	45,526,046 (GRCm39)	missense	probably benign	0.17
R5858:Hace1	UTSW	10	45,587,621 (GRCm39)	missense	possibly damaging	0.58
R5995:Hace1	UTSW	10	45,546,487 (GRCm39)	missense	probably benign	0.00
R6049:Hace1	UTSW	10	45,562,758 (GRCm39)	missense	probably damaging	1.00
R6111:Hace1	UTSW	10	45,465,606 (GRCm39)	missense	possibly damaging	0.92
R6195:Hace1	UTSW	10	45,546,539 (GRCm39)	missense	possibly damaging	0.70
R6216:Hace1	UTSW	10	45,494,643 (GRCm39)	missense	probably benign
R6233:Hace1	UTSW	10	45,546,539 (GRCm39)	missense	possibly damaging	0.70
R6237:Hace1	UTSW	10	45,524,986 (GRCm39)	missense	probably benign
R6467:Hace1	UTSW	10	45,466,362 (GRCm39)	critical splice acceptor site	probably null
R6930:Hace1	UTSW	10	45,494,598 (GRCm39)	missense	probably damaging	1.00
R7325:Hace1	UTSW	10	45,465,603 (GRCm39)	nonsense	probably null
R7401:Hace1	UTSW	10	45,546,722 (GRCm39)	missense	probably damaging	1.00
R7426:Hace1	UTSW	10	45,481,636 (GRCm39)	missense	probably damaging	1.00
R7471:Hace1	UTSW	10	45,577,075 (GRCm39)	missense	probably benign	0.06
R7533:Hace1	UTSW	10	45,587,570 (GRCm39)	missense	probably benign	0.03
R7661:Hace1	UTSW	10	45,481,649 (GRCm39)	missense	probably damaging	1.00
R7873:Hace1	UTSW	10	45,548,883 (GRCm39)	missense	possibly damaging	0.92
R7938:Hace1	UTSW	10	45,562,792 (GRCm39)	missense	probably benign	0.11
R7995:Hace1	UTSW	10	45,465,588 (GRCm39)	missense	probably damaging	1.00
R8017:Hace1	UTSW	10	45,514,478 (GRCm39)	missense	probably damaging	1.00
R8019:Hace1	UTSW	10	45,514,478 (GRCm39)	missense	probably damaging	1.00
R8022:Hace1	UTSW	10	45,577,066 (GRCm39)	missense	probably damaging	1.00
R8292:Hace1	UTSW	10	45,587,557 (GRCm39)	nonsense	probably null
R8717:Hace1	UTSW	10	45,481,694 (GRCm39)	missense	unknown
R8757:Hace1	UTSW	10	45,546,539 (GRCm39)	missense	possibly damaging	0.70
R8814:Hace1	UTSW	10	45,528,797 (GRCm39)	missense	probably damaging	0.99
R8823:Hace1	UTSW	10	45,524,956 (GRCm39)	missense	probably damaging	1.00
R8898:Hace1	UTSW	10	45,576,766 (GRCm39)	missense	probably benign	0.01
R9143:Hace1	UTSW	10	45,562,764 (GRCm39)	missense	probably damaging	0.99
R9297:Hace1	UTSW	10	45,528,769 (GRCm39)	missense	probably benign	0.00
R9318:Hace1	UTSW	10	45,528,769 (GRCm39)	missense	probably benign	0.00
R9365:Hace1	UTSW	10	45,586,092 (GRCm39)	critical splice donor site	probably null
R9492:Hace1	UTSW	10	45,547,230 (GRCm39)	missense	probably benign	0.10
R9644:Hace1	UTSW	10	45,526,001 (GRCm39)	missense	probably benign	0.01
R9656:Hace1	UTSW	10	45,547,545 (GRCm39)	missense	probably benign	0.00
R9762:Hace1	UTSW	10	45,525,014 (GRCm39)	missense	probably benign	0.03
Z1176:Hace1	UTSW	10	45,562,758 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTAGATCTATGTGTACAGGTATGC -3'
(R):5'- TAGAATCCCCATATATCAAGGGC -3'

Sequencing Primer
(F):5'- TGCTTTTAATATATAATTCCAAGCGC -3'
(R):5'- TAACTCATATAATGCACAACCAACTC -3'

Posted On

2015-01-11