Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Hace1'

574175

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

Essential gene?

Possibly non essential (E-score: 0.460) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45577829-45712345 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45670626 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 452 (L452P)

Ref Sequence

ENSEMBL: ENSMUSP00000039206 (fasta)

Gene Model

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

AlphaFold

Q3U0D9

Predicted Effect

probably damaging
Transcript: ENSMUST00000037044
AA Change: L452P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: L452P

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 benign
Transcript: ENSMUST00000150511

SMART Domains

Protein: ENSMUSP00000117985
Gene: ENSMUSG00000038822

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

Coding Region Coverage

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

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Adsl	A	G	15: 80,962,782	H263R	probably damaging	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cacna1c	T	C	6: 119,052,708		probably null	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap52	A	T	11: 67,949,633	N157K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Crem	A	G	18: 3,295,329	S80P	probably damaging	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,917,559	V426L	probably benign	Het
Fes	A	G	7: 80,378,776		probably null	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,302,230	E988G	possibly damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Nisch	A	G	14: 31,206,580	V28A	probably benign	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pabpc4l	A	T	3: 46,446,252	I319N	probably damaging	Het
Pabpc4l	T	A	3: 46,446,589	R207W	probably damaging	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Rsph14	T	A	10: 75,029,796	E70V	possibly damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tars	A	T	15: 11,392,009	L239*	probably null	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,509,832	L123S	probably damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	possibly damaging	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
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
R8814:Hace1	UTSW	10	45652701	missense	probably damaging	0.99
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'- GGCACTCATTGGATGAATGGTTAG -3'
(R):5'- CCTAAGACAAATGTGAATAGGACC -3'

Sequencing Primer
(F):5'- TCTATCTTGCTGAAACAAAAAGGCC -3'
(R):5'- AGACAAATGTGAATAGGACCTTTTAG -3'

Posted On

2019-09-13