Mutagenetix > Incidental Mutation

Incidental Mutation 'R2328:Hace1'

245764

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

040319-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.545) question?

Stock #

R2328 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45453925-45588441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45525041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 269 (R269L)

Ref Sequence

ENSEMBL: ENSMUSP00000039206 (fasta)

Gene Model

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

AlphaFold

Q3U0D9

Predicted Effect

probably benign
Transcript: ENSMUST00000037044
AA Change: R269L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: R269L

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	A	4: 144,182,502 (GRCm39)	Y322F	probably benign	Het
Abca5	T	C	11: 110,167,347 (GRCm39)	T1490A	probably damaging	Het
Akap1	A	G	11: 88,735,870 (GRCm39)	V264A	possibly damaging	Het
Cggbp1	A	G	16: 64,676,366 (GRCm39)	D144G	probably benign	Het
Cubn	C	A	2: 13,408,891 (GRCm39)	G1352*	probably null	Het
Cyfip1	T	A	7: 55,544,739 (GRCm39)	M457K	possibly damaging	Het
Dag1	T	C	9: 108,086,451 (GRCm39)	N230S	probably damaging	Het
Dbh	T	C	2: 27,055,742 (GRCm39)	V72A	probably benign	Het
Dnah11	A	G	12: 117,850,421 (GRCm39)	S4218P	probably damaging	Het
Dnah8	A	T	17: 31,013,718 (GRCm39)	I3820F	probably damaging	Het
Erbb3	C	T	10: 128,419,562 (GRCm39)	C186Y	probably damaging	Het
Foxd1	T	C	13: 98,491,660 (GRCm39)	I178T	probably damaging	Het
Gpc5	C	T	14: 116,025,591 (GRCm39)	R470W	probably damaging	Het
Inpp5a	A	T	7: 139,058,010 (GRCm39)	K73*	probably null	Het
Or10d5j	A	G	9: 39,868,196 (GRCm39)	F24L	possibly damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Pzp	T	C	6: 128,487,353 (GRCm39)	I504V	possibly damaging	Het
Scgb1b19	T	A	7: 32,987,911 (GRCm39)	C93S	probably damaging	Het
Setx	TGTGG	T	2: 29,044,072 (GRCm39)		probably null	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slamf6	G	A	1: 171,761,818 (GRCm39)	V80I	probably benign	Het
Snapc3	T	A	4: 83,353,514 (GRCm39)	Y184*	probably null	Het
Spg21	T	C	9: 65,394,155 (GRCm39)	I284T	possibly damaging	Het
Tas2r123	A	T	6: 132,824,279 (GRCm39)	T59S	probably benign	Het
Trip11	T	G	12: 101,845,086 (GRCm39)	*139C	probably null	Het
Trp53inp1	T	C	4: 11,164,495 (GRCm39)	V13A	probably benign	Het
Wtap	C	T	17: 13,186,425 (GRCm39)	R374Q	possibly damaging	Het
Ydjc	A	G	16: 16,964,986 (GRCm39)	E47G	possibly damaging	Het
Zc3h6	A	G	2: 128,835,122 (GRCm39)	D86G	possibly damaging	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
R2881:Hace1	UTSW	10	45,547,230 (GRCm39)	missense	probably benign	0.10
R3005:Hace1	UTSW	10	45,524,959 (GRCm39)	missense	probably damaging	0.96
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'- CCCCTCTAGATCTATGTGTACAGG -3'
(R):5'- AGGTGATTCAGAGGGCTAATGTC -3'

Sequencing Primer
(F):5'- CTCTAGATCTATGTGTACAGGTATGC -3'
(R):5'- TGATTCAGAGGGCTAATGTCAATAAG -3'

Posted On

2014-10-30