Incidental Mutation 'R2881:Hace1'
ID 260322
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 040469-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.485) question?
Stock # R2881 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 45453925-45588441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45547230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 471 (M471K)
Ref Sequence ENSEMBL: ENSMUSP00000039206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037044]
AlphaFold Q3U0D9
Predicted Effect probably benign
Transcript: ENSMUST00000037044
AA Change: M471K

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: M471K

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
HECTc 7 300 2.63e-96 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150511
SMART Domains Protein: ENSMUSP00000117985
Gene: ENSMUSG00000038822

DomainStartEndE-ValueType
HECTc 55 329 1.76e-74 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Atp9a T C 2: 168,548,134 (GRCm39) Y7C probably damaging Het
Bsn C T 9: 107,990,266 (GRCm39) A1829T possibly damaging Het
Camta2 A T 11: 70,570,490 (GRCm39) probably null Het
Ces1d C A 8: 93,921,659 (GRCm39) G35W probably damaging Het
Chd3 T C 11: 69,242,946 (GRCm39) D1425G probably damaging Het
Coasy G A 11: 100,976,675 (GRCm39) V482I possibly damaging Het
Cyp2j9 A T 4: 96,462,249 (GRCm39) V344E probably damaging Het
Dhx30 A T 9: 109,927,913 (GRCm39) Y73* probably null Het
Ewsr1 C A 11: 5,028,523 (GRCm39) probably benign Het
Faap100 T C 11: 120,265,185 (GRCm39) T564A probably damaging Het
Galc A G 12: 98,179,355 (GRCm39) M518T probably benign Het
Gpatch8 A G 11: 102,370,743 (GRCm39) Y932H unknown Het
Irf2bpl T A 12: 86,929,551 (GRCm39) D374V probably damaging Het
Lcor A G 19: 41,571,488 (GRCm39) E227G probably damaging Het
Nbea A G 3: 55,554,779 (GRCm39) V2623A probably benign Het
Or4a47 T C 2: 89,675,328 (GRCm39) probably null Het
Or5ac24 A T 16: 59,165,215 (GRCm39) L283Q probably damaging Het
Pex5l T A 3: 33,047,152 (GRCm39) probably null Het
Pira13 T A 7: 3,828,640 (GRCm39) M1L probably null Het
Plxnb1 T A 9: 108,943,480 (GRCm39) S1908T probably damaging Het
Sgo2b T C 8: 64,380,570 (GRCm39) Y754C probably damaging Het
She T A 3: 89,739,231 (GRCm39) C141S probably benign Het
Tex15 T A 8: 34,064,935 (GRCm39) L1455* probably null Het
Tfec T A 6: 16,835,232 (GRCm39) H182L probably benign Het
Tgm6 T C 2: 129,979,359 (GRCm39) V163A probably benign Het
Vmn2r88 G T 14: 51,656,146 (GRCm39) C794F probably damaging Het
Zfp871 T C 17: 32,994,407 (GRCm39) K256R probably damaging Het
Zfp998 A T 13: 66,579,329 (GRCm39) C385S probably damaging Het
Other mutations in Hace1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGTGAATGCTACTTCATAAAGAACTGC -3'
(R):5'- GCATGAATCTTGACATCAATTCAGGAC -3'

Sequencing Primer
(F):5'- TCCTTCCTGTCTAGAAGC -3'
(R):5'- CTTGACATCAATTCAGGACATTCAAG -3'
Posted On 2015-01-23