Incidental Mutation 'R8823:Hace1'
ID 673283
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 068656-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.485) question?
Stock # R8823 (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 C at 45524956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 241 (Y241H)
Ref Sequence ENSEMBL: ENSMUSP00000039206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037044]
AlphaFold Q3U0D9
Predicted Effect probably damaging
Transcript: ENSMUST00000037044
AA Change: Y241H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: Y241H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (46/46)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 T A 8: 41,133,228 (GRCm39) I232K probably benign Het
Ap5z1 T C 5: 142,460,191 (GRCm39) L506P probably benign Het
Atg5lrt A T 10: 95,972,633 (GRCm39) I57F possibly damaging Het
Ceacam20 A T 7: 19,705,429 (GRCm39) Y140F probably damaging Het
Chfr G A 5: 110,300,258 (GRCm39) R334H probably damaging Het
Emx2 A G 19: 59,447,880 (GRCm39) H78R probably damaging Het
Etnppl G A 3: 130,420,195 (GRCm39) G204R probably damaging Het
Fah A G 7: 84,254,925 (GRCm39) F3L possibly damaging Het
Galnt12 G T 4: 47,091,928 (GRCm39) probably benign Het
Gbx1 A G 5: 24,710,051 (GRCm39) S265P probably damaging Het
Gm17087 A G 17: 8,785,233 (GRCm39) *157R probably null Het
Grin2a T A 16: 9,487,758 (GRCm39) N380I possibly damaging Het
Grip1 C T 10: 119,811,856 (GRCm39) T269I Het
Hrc A G 7: 44,985,722 (GRCm39) D291G possibly damaging Het
Ifi208 A G 1: 173,511,102 (GRCm39) Y419C probably damaging Het
Ighv8-5 A G 12: 115,031,267 (GRCm39) S91P probably damaging Het
Igkv15-103 T C 6: 68,414,855 (GRCm39) L98P probably damaging Het
Igsf5 C T 16: 96,222,939 (GRCm39) S61L possibly damaging Het
Ipo9 A G 1: 135,347,077 (GRCm39) W138R probably damaging Het
Kank4 A T 4: 98,668,240 (GRCm39) L69Q probably damaging Het
Kcnd3 T C 3: 105,574,330 (GRCm39) I505T probably benign Het
Lrtm2 T A 6: 119,294,193 (GRCm39) I313F probably damaging Het
Mug2 A T 6: 122,040,648 (GRCm39) I733F possibly damaging Het
Myh2 A T 11: 67,076,300 (GRCm39) R800S probably damaging Het
Myo1d A T 11: 80,492,571 (GRCm39) I728N possibly damaging Het
Or10a3n A G 7: 108,493,155 (GRCm39) I158T probably benign Het
Pdcd1 T C 1: 93,969,220 (GRCm39) R33G probably benign Het
Polr1b T C 2: 128,967,457 (GRCm39) F950S probably damaging Het
Prpf8 T A 11: 75,384,282 (GRCm39) M697K probably benign Het
Psmc2 T A 5: 22,005,574 (GRCm39) D218E probably damaging Het
Ptpn12 A G 5: 21,203,621 (GRCm39) Y386H probably damaging Het
Rilpl2 C T 5: 124,606,716 (GRCm39) R166K possibly damaging Het
Rtn4 T A 11: 29,656,609 (GRCm39) N254K probably benign Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Sesn3 T A 9: 14,221,536 (GRCm39) probably benign Het
Slc35b2 T A 17: 45,877,894 (GRCm39) H291Q probably damaging Het
Slc38a3 A C 9: 107,533,150 (GRCm39) Y308D probably damaging Het
Snrpd2 T C 7: 18,886,535 (GRCm39) V106A probably benign Het
Sybu C A 15: 44,540,998 (GRCm39) A355S possibly damaging Het
Tes3-ps A T 13: 49,647,692 (GRCm39) R189S probably benign Het
Trmo T C 4: 46,382,604 (GRCm39) D164G probably damaging Het
Vmn1r225 A G 17: 20,722,823 (GRCm39) Q88R probably benign Het
Xkr9 T C 1: 13,742,832 (GRCm39) V39A probably benign Het
Xpo1 A T 11: 23,217,752 (GRCm39) M73L probably benign Het
Zbtb21 G A 16: 97,752,516 (GRCm39) T589I probably damaging Het
Zbtb41 A G 1: 139,350,892 (GRCm39) K2E probably damaging Het
Zfp105 A G 9: 122,759,568 (GRCm39) K413R possibly 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
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
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'- TCTAGATCTATGTGTACAGGTATGC -3'
(R):5'- TAGAATCCCCATATATCAAGGGC -3'

Sequencing Primer
(F):5'- TGCTTTTAATATATAATTCCAAGCGC -3'
(R):5'- TAACTCATATAATGCACAACCAACTC -3'
Posted On 2021-07-15