Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00847:Hace1'

12657

Institutional Source

Australian Phenomics Network (link to record)

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 essential (E-score: 0.545) question?

Stock #

IGL00847

Quality Score

Status

Chromosome

Chromosomal Location

45453925-45588441 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 45548453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 14 (Y14*)

Gene Model

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

AlphaFold

Q3U0D9

Predicted Effect

probably null
Transcript: ENSMUST00000037044
AA Change: Y532*

SMART Domains

Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: Y532*

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

SMART Domains

Protein: ENSMUSP00000118554
Gene: ENSMUSG00000038822

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

Predicted Effect

probably null
Transcript: ENSMUST00000150511
AA Change: Y14*

SMART Domains

Protein: ENSMUSP00000117985
Gene: ENSMUSG00000038822
AA Change: Y14*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155368

Coding Region Coverage

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,140,722 (GRCm39)	E142G	possibly damaging	Het
Arid4a	C	T	12: 71,122,492 (GRCm39)	P958S	probably damaging	Het
Cct5	T	C	15: 31,591,073 (GRCm39)		probably benign	Het
Cntnap4	C	T	8: 113,494,251 (GRCm39)		probably benign	Het
Col4a3	C	T	1: 82,695,590 (GRCm39)	L1597F	probably damaging	Het
Gla	C	A	X: 133,495,947 (GRCm39)	V179L	probably benign	Het
Gm20422	A	T	8: 70,195,642 (GRCm39)	C212*	probably null	Het
Hcfc2	T	A	10: 82,577,112 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,874,038 (GRCm39)	D2152G	possibly damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Mcm8	T	G	2: 132,661,594 (GRCm39)	L74V	probably benign	Het
Myo18b	A	G	5: 112,978,255 (GRCm39)		probably benign	Het
Ptprg	A	T	14: 12,215,265 (GRCm38)	N1084I	probably damaging	Het
Rad21l	C	A	2: 151,502,635 (GRCm39)	A192S	probably benign	Het
Scn2a	A	G	2: 65,501,078 (GRCm39)	D80G	probably damaging	Het
Serpinb3c	A	G	1: 107,203,990 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,786,118 (GRCm39)		probably benign	Het
Slc25a41	G	T	17: 57,341,957 (GRCm39)		probably null	Het
Snx14	C	A	9: 88,302,382 (GRCm39)	R140S	probably damaging	Het
Svs6	A	C	2: 164,159,507 (GRCm39)	K90T	possibly damaging	Het
Tlcd1	T	A	11: 78,070,914 (GRCm39)	Y168N	probably damaging	Het
Vps13d	A	G	4: 144,811,978 (GRCm39)	I3312T	probably benign	Het
Zfp11	A	G	5: 129,734,978 (GRCm39)	V161A	probably benign	Het

Other mutations in Hace1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06