Incidental Mutation 'IGL02217:Hace1'
ID 284966
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hace1
Ensembl Gene ENSMUSG00000038822
Gene Name HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
Synonyms A730034A22Rik, 1700042J16Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.485) question?
Stock # IGL02217
Quality Score
Status
Chromosome 10
Chromosomal Location 45453925-45588441 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to T at 45466471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037044] [ENSMUST00000131568]
AlphaFold Q3U0D9
Predicted Effect probably null
Transcript: ENSMUST00000037044
SMART Domains Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822

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 null
Transcript: ENSMUST00000131568
SMART Domains Protein: ENSMUSP00000121196
Gene: ENSMUSG00000038822

DomainStartEndE-ValueType
Blast:ANK 4 37 2e-15 BLAST
ANK 42 71 3.23e-4 SMART
ANK 75 104 7.76e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142956
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,603,955 (GRCm39) probably benign Het
Actn1 G A 12: 80,220,868 (GRCm39) Q647* probably null Het
Adamts6 T A 13: 104,598,873 (GRCm39) probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cabin1 G A 10: 75,535,881 (GRCm39) T1389I possibly damaging Het
Cenpc1 A G 5: 86,177,059 (GRCm39) probably benign Het
Clca4a T A 3: 144,667,757 (GRCm39) T405S possibly damaging Het
Cntln G A 4: 85,018,495 (GRCm39) V1168M probably damaging Het
Col18a1 A G 10: 76,889,132 (GRCm39) S1494P probably damaging Het
Cps1 A T 1: 67,213,541 (GRCm39) T758S probably benign Het
Cul3 A T 1: 80,261,484 (GRCm39) M247K probably damaging Het
Cyp3a57 A G 5: 145,305,953 (GRCm39) probably null Het
Dennd4c T A 4: 86,732,036 (GRCm39) C917S probably benign Het
Dhrs11 A T 11: 84,713,221 (GRCm39) Y166* probably null Het
Dtl A G 1: 191,300,426 (GRCm39) V146A probably damaging Het
Exosc9 A G 3: 36,606,893 (GRCm39) E20G probably damaging Het
Fer A G 17: 64,445,960 (GRCm39) K437R probably benign Het
Fkbp6 A T 5: 135,366,484 (GRCm39) V284E probably benign Het
Foxq1 A T 13: 31,743,152 (GRCm39) S85C probably damaging Het
Galnt12 T A 4: 47,113,832 (GRCm39) S83R probably damaging Het
Gpr156 A G 16: 37,825,673 (GRCm39) D630G probably benign Het
Hemgn G T 4: 46,396,420 (GRCm39) T272K probably damaging Het
Ifi213 T G 1: 173,422,598 (GRCm39) E89A possibly damaging Het
Jarid2 A G 13: 45,066,677 (GRCm39) E954G probably damaging Het
Kcnu1 A G 8: 26,348,212 (GRCm39) D126G probably damaging Het
Lbh A T 17: 73,228,247 (GRCm39) I31F possibly damaging Het
Lrrc37 T C 11: 103,503,697 (GRCm39) probably benign Het
Mdfic2 T A 6: 98,225,033 (GRCm39) E83D possibly damaging Het
Muc6 T C 7: 141,235,889 (GRCm39) E490G probably damaging Het
Ncoa3 T C 2: 165,897,266 (GRCm39) S686P probably damaging Het
Nme4 A G 17: 26,312,834 (GRCm39) M108T probably damaging Het
Nod1 A C 6: 54,920,404 (GRCm39) V638G possibly damaging Het
Nrip2 A G 6: 128,383,502 (GRCm39) N70S probably damaging Het
Or2bd2 T A 7: 6,443,244 (GRCm39) I115N probably damaging Het
Or5as1 A G 2: 86,980,231 (GRCm39) M258T probably benign Het
Pitrm1 G A 13: 6,617,377 (GRCm39) probably benign Het
Proser1 A G 3: 53,378,912 (GRCm39) K115E probably damaging Het
Ptov1 C T 7: 44,516,900 (GRCm39) G70R probably damaging Het
Qtrt1 T G 9: 21,328,685 (GRCm39) probably null Het
Rbbp8nl A G 2: 179,919,981 (GRCm39) probably benign Het
Rplp1rt A T 19: 12,824,227 (GRCm39) noncoding transcript Het
Rtn3 G A 19: 7,412,449 (GRCm39) T794I probably damaging Het
Setd4 A G 16: 93,390,183 (GRCm39) L82P probably damaging Het
Shank2 C T 7: 143,838,784 (GRCm39) L27F possibly damaging Het
Srpk2 A C 5: 23,750,568 (GRCm39) V45G probably damaging Het
Utrn A G 10: 12,627,303 (GRCm39) F57S probably damaging Het
Vcan T G 13: 89,851,196 (GRCm39) T1255P probably damaging Het
Vmn2r16 A C 5: 109,487,676 (GRCm39) H183P probably damaging Het
Wdr48 T C 9: 119,738,601 (GRCm39) I286T probably benign 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
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
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
Posted On 2015-04-16