Mutagenetix > Incidental Mutation

Incidental Mutation 'R4996:Hace1'

385268

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

042590-MU

Accession Numbers

Essential gene?

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

Stock #

R4996 (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 45526046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 296 (A296T)

Ref Sequence

ENSEMBL: ENSMUSP00000039206 (fasta)

Gene Model

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

AlphaFold

Q3U0D9

Predicted Effect

probably benign
Transcript: ENSMUST00000037044
AA Change: A296T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: A296T

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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Actl11	A	G	9: 107,808,934 (GRCm39)	I1086V	possibly damaging	Het
Adgrv1	T	C	13: 81,726,853 (GRCm39)	S500G	probably benign	Het
Ahcyl1	A	T	3: 107,575,603 (GRCm39)	V394E	probably damaging	Het
Alg9	T	C	9: 50,720,005 (GRCm39)	F494L	probably damaging	Het
Ankrd55	C	A	13: 112,492,622 (GRCm39)	D264E	possibly damaging	Het
Asb14	A	G	14: 26,634,073 (GRCm39)	N426S	possibly damaging	Het
Atm	A	T	9: 53,435,807 (GRCm39)	F168I	probably benign	Het
Atp13a4	A	T	16: 29,290,822 (GRCm39)	I209N	probably damaging	Het
BB014433	A	T	8: 15,092,166 (GRCm39)	L229Q	probably benign	Het
Calml3	T	C	13: 3,854,142 (GRCm39)	D21G	probably damaging	Het
Capn10	A	G	1: 92,872,858 (GRCm39)	N528S	probably damaging	Het
Ccnl2	T	A	4: 155,897,981 (GRCm39)	D141E	possibly damaging	Het
Cd163	A	G	6: 124,296,106 (GRCm39)	I817V	probably benign	Het
Cgnl1	CTTGCCCAGGTT	CTT	9: 71,632,108 (GRCm39)		probably benign	Het
Cln6	T	A	9: 62,757,937 (GRCm39)	I232N	probably damaging	Het
Col22a1	A	C	15: 71,879,010 (GRCm39)	V49G	probably damaging	Het
Csmd1	A	T	8: 15,960,452 (GRCm39)	M3321K	probably damaging	Het
Cyp2u1	T	A	3: 131,091,933 (GRCm39)	M196L	probably benign	Het
Dlec1	T	G	9: 118,975,118 (GRCm39)	L1566R	probably damaging	Het
Dnajc3	A	G	14: 119,209,839 (GRCm39)	T305A	probably benign	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Efhd1	G	T	1: 87,192,280 (GRCm39)	G37W	possibly damaging	Het
Exph5	G	C	9: 53,286,910 (GRCm39)	E1330D	possibly damaging	Het
Fbln2	A	T	6: 91,242,992 (GRCm39)	Y913F	probably benign	Het
Fmnl1	G	A	11: 103,073,482 (GRCm39)	S167N	possibly damaging	Het
Frs3	A	G	17: 48,012,635 (GRCm39)	E114G	probably damaging	Het
Gmpr2	T	C	14: 55,914,252 (GRCm39)	I169T	probably damaging	Het
Gria2	A	G	3: 80,614,448 (GRCm39)	S531P	probably damaging	Het
Ift70a1	C	T	2: 75,810,266 (GRCm39)	G606S	probably benign	Het
Inhbb	A	C	1: 119,348,548 (GRCm39)	L90R	probably damaging	Het
Insr	C	T	8: 3,242,665 (GRCm39)	R18Q	probably null	Het
Kdm6b	G	T	11: 69,296,557 (GRCm39)	P570Q	probably damaging	Het
Lama3	T	C	18: 12,651,800 (GRCm39)	V1803A	probably benign	Het
Lpin3	T	A	2: 160,747,207 (GRCm39)	L811Q	probably damaging	Het
Lrrc8e	C	T	8: 4,285,166 (GRCm39)	L464F	probably damaging	Het
Micall2	A	G	5: 139,696,344 (GRCm39)	S729P	probably benign	Het
Naca	C	T	10: 127,878,298 (GRCm39)		probably benign	Het
Nav1	A	T	1: 135,393,709 (GRCm39)	S1010T	probably damaging	Het
Nefm	T	C	14: 68,358,570 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,085,172 (GRCm39)	F136I	possibly damaging	Het
Nup210	A	T	6: 91,030,418 (GRCm39)	F137Y	probably benign	Het
Or1o3	A	G	17: 37,573,758 (GRCm39)	S266P	probably benign	Het
Or3a1c	A	G	11: 74,046,157 (GRCm39)	H59R	probably damaging	Het
Or8k32	T	C	2: 86,368,615 (GRCm39)	I215V	probably benign	Het
Otog	C	A	7: 45,948,030 (GRCm39)	H2344N	possibly damaging	Het
Otog	C	A	7: 45,954,934 (GRCm39)	C517*	probably null	Het
Pcdhac1	C	T	18: 37,225,580 (GRCm39)	Q798*	probably null	Het
Pdhx	T	C	2: 102,860,657 (GRCm39)	D330G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Pgr	C	A	9: 8,900,914 (GRCm39)	P149Q	probably damaging	Het
Plaat1	G	A	16: 29,036,456 (GRCm39)	W31*	probably null	Het
Ppm1h	A	T	10: 122,777,245 (GRCm39)	I504F	probably damaging	Het
Ppp6r3	A	G	19: 3,523,833 (GRCm39)	S556P	probably damaging	Het
Ranbp9	G	A	13: 43,578,570 (GRCm39)	Q168*	probably null	Het
Relb	A	T	7: 19,349,528 (GRCm39)	L259Q	probably benign	Het
Rfx5	G	A	3: 94,863,126 (GRCm39)	V73I	probably benign	Het
Rgcc	T	C	14: 79,527,716 (GRCm39)	D125G	possibly damaging	Het
Rmnd5b	A	G	11: 51,518,735 (GRCm39)	V86A	probably damaging	Het
Slc15a5	G	A	6: 138,020,583 (GRCm39)	T250M	probably damaging	Het
Slc7a2	A	T	8: 41,365,599 (GRCm39)	K477*	probably null	Het
Slx9	A	T	10: 77,351,367 (GRCm39)	W14R	probably null	Het
Smc2	T	A	4: 52,461,042 (GRCm39)		probably null	Het
Sox5	A	T	6: 143,974,070 (GRCm39)	L226*	probably null	Het
Sp140l2	G	T	1: 85,224,815 (GRCm39)	A240E	probably benign	Het
Syne2	A	G	12: 75,990,724 (GRCm39)	E1903G	possibly damaging	Het
Tenm3	A	T	8: 48,688,861 (GRCm39)	I2226N	probably damaging	Het
Tmtc3	A	T	10: 100,283,086 (GRCm39)	I823N	probably damaging	Het
Top6bl	T	A	19: 4,676,112 (GRCm39)	K673N	probably benign	Het
Tor3a	T	C	1: 156,483,342 (GRCm39)	Y360C	probably damaging	Het
Trpc3	T	C	3: 36,716,967 (GRCm39)	E357G	probably benign	Het
Tubgcp6	A	T	15: 88,987,693 (GRCm39)	N1093K	possibly damaging	Het
Vmn1r64	T	A	7: 5,887,052 (GRCm39)	T164S	probably benign	Het
Vmn2r40	T	A	7: 8,911,166 (GRCm39)	Q709L	probably damaging	Het
Vmn2r81	A	T	10: 79,129,247 (GRCm39)	I713L	probably benign	Het
Washc5	T	C	15: 59,205,484 (GRCm39)	T686A	probably benign	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,270,418 (GRCm39)		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
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
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'- CTTGATTTTAGTTGACTGCCTTTAAGG -3'
(R):5'- GCCAAAATTCACATTAGTATGTTCTAG -3'

Sequencing Primer
(F):5'- CCTTTAAGGCATTTATTAAGCATGTG -3'
(R):5'- TGGTTTCAATGAGAAGGCCCTAC -3'

Posted On

2016-05-10