Incidental Mutation 'IGL00847:Hace1'
ID12657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hace1
Ensembl Gene ENSMUSG00000038822
Gene NameHECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
SynonymsA730034A22Rik, 1700042J16Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.393) question?
Stock #IGL00847
Quality Score
Status
Chromosome10
Chromosomal Location45577829-45712345 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 45672357 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 14 (Y14*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037044]
Predicted Effect probably null
Transcript: ENSMUST00000037044
AA Change: Y532*
SMART Domains Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: Y532*

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 null
Transcript: ENSMUST00000150511
AA Change: Y14*
SMART Domains Protein: ENSMUSP00000117985
Gene: ENSMUSG00000038822
AA Change: Y14*

DomainStartEndE-ValueType
HECTc 55 329 1.76e-74 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155368
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,152,290 E142G possibly damaging Het
Arid4a C T 12: 71,075,718 P958S probably damaging Het
BC049730 A G 7: 24,714,248 T230A probably benign Het
Cct5 T C 15: 31,590,927 probably benign Het
Cntnap4 C T 8: 112,767,619 probably benign Het
Col4a3 C T 1: 82,717,869 L1597F probably damaging Het
Gla C A X: 134,595,198 V179L probably benign Het
Gm20422 A T 8: 69,742,992 C212* probably null Het
Hcfc2 T A 10: 82,741,278 probably null Het
Helz2 T C 2: 181,232,245 D2152G possibly damaging Het
Mcm8 T G 2: 132,819,674 L74V probably benign Het
Myo18b A G 5: 112,830,389 probably benign Het
Ptprg A T 14: 12,215,265 N1084I probably damaging Het
Rad21l C A 2: 151,660,715 A192S probably benign Het
Scn2a A G 2: 65,670,734 D80G probably damaging Het
Serpinb3c A G 1: 107,276,260 probably null Het
Sgip1 A G 4: 102,928,921 probably benign Het
Slc25a41 G T 17: 57,034,957 probably null Het
Snx14 C A 9: 88,420,329 R140S probably damaging Het
Svs6 A C 2: 164,317,587 K90T possibly damaging Het
Tlcd1 T A 11: 78,180,088 Y168N probably damaging Het
Vps13d A G 4: 145,085,408 I3312T probably benign Het
Zfp11 A G 5: 129,657,914 V161A probably benign Het
Other mutations in Hace1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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 unclassified 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
Posted On2012-12-06