Incidental Mutation 'IGL02088:Axin2'
ID279323
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Axin2
Ensembl Gene ENSMUSG00000000142
Gene Nameaxin 2
SynonymsAxil, Conductin
Accession Numbers

Genbank: NM_015732; MGI: 1270862

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02088
Quality Score
Status
Chromosome11
Chromosomal Location108920349-108950783 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 108923616 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 110 (F110Y)
Ref Sequence ENSEMBL: ENSMUSP00000102322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052915] [ENSMUST00000106711] [ENSMUST00000140821] [ENSMUST00000144511] [ENSMUST00000152909]
Predicted Effect probably damaging
Transcript: ENSMUST00000052915
AA Change: F110Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051331
Gene: ENSMUSG00000000142
AA Change: F110Y

DomainStartEndE-ValueType
Pfam:AXIN1_TNKS_BD 9 73 8.1e-27 PFAM
RGS 81 200 4.7e-33 SMART
low complexity region 302 318 N/A INTRINSIC
coiled coil region 377 405 N/A INTRINSIC
Pfam:Axin_b-cat_bind 432 472 7.6e-13 PFAM
low complexity region 511 520 N/A INTRINSIC
DAX 758 840 1.42e-47 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106711
AA Change: F110Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102322
Gene: ENSMUSG00000000142
AA Change: F110Y

DomainStartEndE-ValueType
low complexity region 22 35 N/A INTRINSIC
RGS 81 200 4.7e-33 SMART
low complexity region 302 318 N/A INTRINSIC
coiled coil region 377 405 N/A INTRINSIC
Pfam:Axin_b-cat_bind 432 469 8.6e-22 PFAM
low complexity region 511 520 N/A INTRINSIC
DAX 693 775 1.42e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140821
SMART Domains Protein: ENSMUSP00000120664
Gene: ENSMUSG00000000142

DomainStartEndE-ValueType
low complexity region 22 35 N/A INTRINSIC
PDB:1DK8|A 67 99 1e-7 PDB
SCOP:d1dk8a_ 67 99 7e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144511
SMART Domains Protein: ENSMUSP00000119915
Gene: ENSMUSG00000000142

DomainStartEndE-ValueType
low complexity region 22 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152909
SMART Domains Protein: ENSMUSP00000116956
Gene: ENSMUSG00000000142

DomainStartEndE-ValueType
low complexity region 22 35 N/A INTRINSIC
PDB:1DK8|A 67 102 1e-8 PDB
SCOP:d1dk8a_ 67 102 8e-8 SMART
Blast:RGS 81 103 2e-8 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit premature fusion of cranial sutures, enhanced expansion of osteoprogenitors, accelerated ossification, and increased osteoblast proliferation and differentiation. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, other(1) Gene trapped(1)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 T C 9: 104,098,881 E289G probably damaging Het
Aldh1l1 A T 6: 90,580,590 probably benign Het
Ampd3 T A 7: 110,793,686 D220E probably benign Het
Ank3 T C 10: 69,999,373 V136A probably damaging Het
Atg14 T C 14: 47,542,859 K486R probably benign Het
Axin1 A G 17: 26,188,695 I637V probably benign Het
Cdh12 A T 15: 21,480,339 K214* probably null Het
Cfap44 A C 16: 44,451,628 E1248A possibly damaging Het
Cryba4 A G 5: 112,251,009 probably benign Het
Cyp2c68 A G 19: 39,703,521 probably benign Het
Dnah5 G T 15: 28,459,118 probably null Het
Dok3 A T 13: 55,524,370 V165E probably damaging Het
Etl4 A T 2: 20,806,548 R1147S probably damaging Het
Fam212a A G 9: 107,984,457 F220S probably damaging Het
Fbxl6 G T 15: 76,535,906 C502* probably null Het
Gp2 A T 7: 119,454,469 Y90N probably damaging Het
H1fnt G T 15: 98,257,178 T30K probably damaging Het
Itfg2 A G 6: 128,411,606 V306A probably benign Het
Lrig2 T C 3: 104,467,108 Y219C probably damaging Het
Mccc1 A T 3: 35,974,202 I485N probably damaging Het
Mettl25 A G 10: 105,823,250 F391L probably damaging Het
Muc19 C T 15: 91,891,168 noncoding transcript Het
Muc2 T C 7: 141,751,504 C182R probably damaging Het
Nlrp4g T C 9: 124,350,453 noncoding transcript Het
Nms A G 1: 38,939,277 probably benign Het
Nr3c1 T C 18: 39,424,391 N503S probably damaging Het
Olfr1495 T C 19: 13,768,666 F108S probably damaging Het
Olfr186 A G 16: 59,027,052 L285P probably damaging Het
Olfr828 C T 9: 18,815,923 V124I probably benign Het
Pcdhb5 G A 18: 37,321,959 S464N probably benign Het
Pcgf6 T C 19: 47,050,804 T6A unknown Het
Rdx A G 9: 52,060,883 probably benign Het
Shmt1 T C 11: 60,789,653 T403A probably damaging Het
Slc35d1 A G 4: 103,211,325 F148L probably benign Het
Tk1 A G 11: 117,824,665 probably benign Het
Tnks T A 8: 34,839,994 I1134F possibly damaging Het
Ttn A G 2: 76,726,691 V29990A probably damaging Het
Zcchc11 A G 4: 108,512,218 probably benign Het
Other mutations in Axin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Axin2 APN 11 108923990 missense probably benign
IGL01094:Axin2 APN 11 108923675 missense probably damaging 0.99
IGL01563:Axin2 APN 11 108923805 missense probably damaging 0.97
IGL02724:Axin2 APN 11 108942946 missense possibly damaging 0.48
PIT4131001:Axin2 UTSW 11 108924003 missense possibly damaging 0.85
R0029:Axin2 UTSW 11 108924047 missense probably benign 0.01
R0052:Axin2 UTSW 11 108949270 missense probably damaging 1.00
R0112:Axin2 UTSW 11 108939397 missense possibly damaging 0.62
R0372:Axin2 UTSW 11 108923333 missense probably damaging 1.00
R0372:Axin2 UTSW 11 108924110 unclassified probably benign
R1200:Axin2 UTSW 11 108931550 missense probably damaging 0.98
R1924:Axin2 UTSW 11 108942968 missense probably benign 0.02
R2025:Axin2 UTSW 11 108943078 missense probably damaging 1.00
R2427:Axin2 UTSW 11 108923974 missense possibly damaging 0.93
R4210:Axin2 UTSW 11 108942576 missense possibly damaging 0.89
R4781:Axin2 UTSW 11 108943856 missense probably damaging 1.00
R4846:Axin2 UTSW 11 108942299 missense probably benign 0.00
R4956:Axin2 UTSW 11 108943078 missense probably damaging 1.00
R7365:Axin2 UTSW 11 108939376 missense possibly damaging 0.93
R7519:Axin2 UTSW 11 108942246 missense probably benign 0.00
R7662:Axin2 UTSW 11 108942456 missense possibly damaging 0.96
R7947:Axin2 UTSW 11 108923703 missense probably damaging 1.00
R8103:Axin2 UTSW 11 108931543 missense probably damaging 0.99
X0054:Axin2 UTSW 11 108923574 missense probably damaging 1.00
Z1177:Axin2 UTSW 11 108923474 missense probably damaging 1.00
Posted On2015-04-16