Incidental Mutation 'R6233:Hace1'
ID 504761
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 044361-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.485) question?
Stock # R6233 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 45453925-45588441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45546539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 391 (I391N)
Ref Sequence ENSEMBL: ENSMUSP00000039206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037044]
AlphaFold Q3U0D9
Predicted Effect possibly damaging
Transcript: ENSMUST00000037044
AA Change: I391N

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: I391N

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
Meta Mutation Damage Score 0.2441 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 98% (79/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 T A 2: 58,338,411 (GRCm39) N437I probably benign Het
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adgrg7 T A 16: 56,599,005 (GRCm39) T57S possibly damaging Het
Agbl2 T A 2: 90,643,657 (GRCm39) D792E probably benign Het
Ankrd9 A T 12: 110,943,554 (GRCm39) I160N probably damaging Het
Aoc1l2 A G 6: 48,907,899 (GRCm39) T300A probably benign Het
Baz2b T A 2: 59,737,855 (GRCm39) Q1818L possibly damaging Het
Bod1 A G 11: 31,616,740 (GRCm39) *174Q probably null Het
Cacna1a A G 8: 85,315,382 (GRCm39) Y1539C probably damaging Het
Clmn A C 12: 104,751,714 (GRCm39) L247R probably damaging Het
Cyp1b1 G T 17: 80,021,695 (GRCm39) L16M probably damaging Het
Dhrs7l T C 12: 72,666,341 (GRCm39) Y110C probably damaging Het
Dhx29 T A 13: 113,101,071 (GRCm39) S1205T probably benign Het
Dmkn C A 7: 30,479,104 (GRCm39) A280E probably damaging Het
Dnah7b G A 1: 46,243,429 (GRCm39) D1578N probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dsc3 C T 18: 20,098,852 (GRCm39) G776R possibly damaging Het
Eefsec A G 6: 88,335,526 (GRCm39) probably null Het
Efhb A G 17: 53,769,580 (GRCm39) F243S possibly damaging Het
Eif2ak2 A T 17: 79,178,662 (GRCm39) Y137* probably null Het
Eny2 A G 15: 44,297,056 (GRCm39) probably null Het
F2rl3 A G 8: 73,489,513 (GRCm39) T247A probably benign Het
Fan1 A T 7: 64,004,119 (GRCm39) H782Q probably damaging Het
Fbxo28 A G 1: 182,169,073 (GRCm39) S22P unknown Het
Fcgbpl1 T C 7: 27,830,885 (GRCm39) C33R probably damaging Het
Fcrlb A G 1: 170,736,458 (GRCm39) I106T probably damaging Het
Fer1l5 T C 1: 36,414,367 (GRCm39) probably null Het
Fgfbp1 T C 5: 44,136,704 (GRCm39) D196G possibly damaging Het
Gab1 A T 8: 81,606,161 (GRCm39) Y24* probably null Het
Gcc2 T C 10: 58,106,806 (GRCm39) S681P probably damaging Het
Git2 T C 5: 114,905,175 (GRCm39) N94S probably benign Het
Gm5799 T G 14: 43,782,088 (GRCm39) L87V probably damaging Het
Gna12 A G 5: 140,746,447 (GRCm39) F333L possibly damaging Het
Gria2 A G 3: 80,614,510 (GRCm39) I510T probably damaging Het
Il1rap A G 16: 26,529,256 (GRCm39) T310A probably benign Het
Itpr3 T C 17: 27,305,934 (GRCm39) I164T probably damaging Het
Kcnk4 T C 19: 6,905,697 (GRCm39) N90S probably benign Het
Krt40 G A 11: 99,433,920 (GRCm39) A22V possibly damaging Het
Lamc1 A T 1: 153,099,412 (GRCm39) D1520E probably benign Het
Lrrc37 A T 11: 103,504,214 (GRCm39) L2585I probably damaging Het
Mipep T A 14: 61,109,554 (GRCm39) W644R probably damaging Het
Mycl A G 4: 122,893,713 (GRCm39) D171G probably damaging Het
Myh7b C T 2: 155,473,719 (GRCm39) A1584V possibly damaging Het
Nf1 A G 11: 79,456,801 (GRCm39) Y629C probably damaging Het
Obscn T A 11: 58,888,033 (GRCm39) E2164V probably damaging Het
Or52h1 A T 7: 103,828,961 (GRCm39) V218D possibly damaging Het
Or5b118 T C 19: 13,449,104 (GRCm39) Y257H probably damaging Het
Or5w19 T C 2: 87,698,904 (GRCm39) S190P possibly damaging Het
Or6c209 T C 10: 129,483,165 (GRCm39) M56T probably benign Het
Or8k25 T C 2: 86,243,551 (GRCm39) I282V probably damaging Het
Pcdh20 T C 14: 88,705,488 (GRCm39) E604G probably benign Het
Pilra T C 5: 137,821,763 (GRCm39) T291A possibly damaging Het
Ppp1r9a G T 6: 5,077,610 (GRCm39) D630Y probably damaging Het
Pros1 A C 16: 62,719,284 (GRCm39) Q102P possibly damaging Het
Rad21l T C 2: 151,495,462 (GRCm39) D407G probably benign Het
Rapgef5 G A 12: 117,703,453 (GRCm39) probably null Het
Rbm25 G A 12: 83,706,200 (GRCm39) A182T probably benign Het
Rnf13 A G 3: 57,740,391 (GRCm39) E236G possibly damaging Het
Robo3 T G 9: 37,332,225 (GRCm39) Y891S probably damaging Het
Rsrp1 T A 4: 134,654,113 (GRCm39) I255K probably damaging Het
Scn1a T A 2: 66,107,962 (GRCm39) Y1588F possibly damaging Het
Sdr16c6 T A 4: 4,069,984 (GRCm39) I119F probably damaging Het
Shoc1 T A 4: 59,076,245 (GRCm39) D566V possibly damaging Het
Slc12a7 T C 13: 73,953,590 (GRCm39) S767P possibly damaging Het
Slc23a1 A G 18: 35,757,497 (GRCm39) I258T probably damaging Het
Spata13 G A 14: 60,929,456 (GRCm39) R338H probably benign Het
Sufu G A 19: 46,464,071 (GRCm39) G428R probably damaging Het
Sult2a1 T C 7: 13,566,600 (GRCm39) D125G probably damaging Het
Tapbp T C 17: 34,138,956 (GRCm39) L41P probably damaging Het
Tbc1d16 T A 11: 119,101,391 (GRCm39) K40* probably null Het
Tdrd6 A G 17: 43,940,643 (GRCm39) V135A probably damaging Het
Tenm3 A C 8: 48,870,094 (GRCm39) V233G probably damaging Het
Tmem87a A T 2: 120,222,656 (GRCm39) probably null Het
Tspan11 T C 6: 127,915,227 (GRCm39) Y114H probably damaging Het
Ttn T A 2: 76,567,997 (GRCm39) Y27632F probably benign Het
Usp44 G A 10: 93,686,202 (GRCm39) C539Y probably damaging Het
Vmn2r73 G A 7: 85,519,099 (GRCm39) P508S probably benign Het
Zfp831 A G 2: 174,488,490 (GRCm39) D1055G possibly damaging Het
Zfp871 CCACAC CC 17: 32,994,494 (GRCm39) probably null 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
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
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'- CTGTGCACTAAACAGTTTTCTCAG -3'
(R):5'- TCACAGAGATGACGTCTTGACAG -3'

Sequencing Primer
(F):5'- CTCAGATTTTTAGCAATTTTCAGGC -3'
(R):5'- AGATGACGTCTTGACAGTCGGC -3'
Posted On 2018-02-28