Incidental Mutation 'IGL01094:Axin2'
ID |
52272 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Axin2
|
Ensembl Gene |
ENSMUSG00000000142 |
Gene Name |
axin 2 |
Synonyms |
Axil, Conductin |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01094
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
108811175-108841609 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 108814501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 130
(V130M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052915]
[ENSMUST00000106711]
[ENSMUST00000140821]
[ENSMUST00000144511]
[ENSMUST00000152909]
|
AlphaFold |
O88566 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052915
AA Change: V130M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000051331 Gene: ENSMUSG00000000142 AA Change: V130M
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000106711
AA Change: V130M
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000102322 Gene: ENSMUSG00000000142 AA Change: V130M
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
35 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152909
|
SMART Domains |
Protein: ENSMUSP00000116956 Gene: ENSMUSG00000000142
Domain | Start | End | E-Value | Type |
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adss2 |
A |
T |
1: 177,612,508 (GRCm39) |
H80Q |
probably damaging |
Het |
Ahi1 |
A |
G |
10: 20,847,959 (GRCm39) |
N456D |
probably damaging |
Het |
Alpk2 |
T |
G |
18: 65,439,673 (GRCm39) |
E573D |
probably damaging |
Het |
Cadm4 |
T |
C |
7: 24,202,184 (GRCm39) |
L341P |
possibly damaging |
Het |
Col20a1 |
G |
A |
2: 180,641,559 (GRCm39) |
C625Y |
probably damaging |
Het |
Col6a3 |
T |
G |
1: 90,731,655 (GRCm39) |
I1533L |
possibly damaging |
Het |
Dusp10 |
A |
T |
1: 183,769,697 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
A |
6: 84,171,368 (GRCm39) |
I1837N |
probably damaging |
Het |
Fbxw19 |
A |
G |
9: 109,322,614 (GRCm39) |
S119P |
probably benign |
Het |
Il22ra1 |
C |
A |
4: 135,478,395 (GRCm39) |
P489T |
possibly damaging |
Het |
Il7r |
A |
T |
15: 9,508,085 (GRCm39) |
N412K |
possibly damaging |
Het |
Kdr |
A |
T |
5: 76,122,420 (GRCm39) |
Y502N |
probably benign |
Het |
Med12l |
T |
A |
3: 59,001,076 (GRCm39) |
L713H |
probably damaging |
Het |
Nfxl1 |
A |
G |
5: 72,707,771 (GRCm39) |
|
probably benign |
Het |
Or4a70 |
A |
G |
2: 89,324,182 (GRCm39) |
V158A |
probably benign |
Het |
Piezo1 |
T |
A |
8: 123,208,877 (GRCm39) |
E2495D |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,410,325 (GRCm39) |
F2611L |
probably benign |
Het |
Pld2 |
T |
C |
11: 70,432,132 (GRCm39) |
C84R |
probably damaging |
Het |
Prss3l |
A |
G |
6: 41,420,357 (GRCm39) |
V123A |
possibly damaging |
Het |
Scfd2 |
G |
T |
5: 74,691,707 (GRCm39) |
P192T |
possibly damaging |
Het |
Tm4sf19 |
A |
G |
16: 32,224,772 (GRCm39) |
N40S |
possibly damaging |
Het |
Tmc2 |
T |
C |
2: 130,102,086 (GRCm39) |
|
probably benign |
Het |
Tmem217 |
T |
C |
17: 29,745,566 (GRCm39) |
R55G |
probably benign |
Het |
Unc80 |
A |
G |
1: 66,734,592 (GRCm39) |
D3205G |
possibly damaging |
Het |
Vps13c |
A |
G |
9: 67,793,566 (GRCm39) |
N440D |
probably damaging |
Het |
Wdr35 |
T |
C |
12: 9,055,838 (GRCm39) |
|
probably benign |
Het |
Zfp110 |
T |
A |
7: 12,583,723 (GRCm39) |
H790Q |
probably damaging |
Het |
|
Other mutations in Axin2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00339:Axin2
|
APN |
11 |
108,814,816 (GRCm39) |
missense |
probably benign |
|
IGL01563:Axin2
|
APN |
11 |
108,814,631 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02088:Axin2
|
APN |
11 |
108,814,442 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02724:Axin2
|
APN |
11 |
108,833,772 (GRCm39) |
missense |
possibly damaging |
0.48 |
PIT4131001:Axin2
|
UTSW |
11 |
108,814,829 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0029:Axin2
|
UTSW |
11 |
108,814,873 (GRCm39) |
missense |
probably benign |
0.01 |
R0052:Axin2
|
UTSW |
11 |
108,840,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R0112:Axin2
|
UTSW |
11 |
108,830,223 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0372:Axin2
|
UTSW |
11 |
108,814,936 (GRCm39) |
unclassified |
probably benign |
|
R0372:Axin2
|
UTSW |
11 |
108,814,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R1200:Axin2
|
UTSW |
11 |
108,822,376 (GRCm39) |
missense |
probably damaging |
0.98 |
R1924:Axin2
|
UTSW |
11 |
108,833,794 (GRCm39) |
missense |
probably benign |
0.02 |
R2025:Axin2
|
UTSW |
11 |
108,833,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R2427:Axin2
|
UTSW |
11 |
108,814,800 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4210:Axin2
|
UTSW |
11 |
108,833,402 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4781:Axin2
|
UTSW |
11 |
108,834,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R4846:Axin2
|
UTSW |
11 |
108,833,125 (GRCm39) |
missense |
probably benign |
0.00 |
R4956:Axin2
|
UTSW |
11 |
108,833,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R7365:Axin2
|
UTSW |
11 |
108,830,202 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7519:Axin2
|
UTSW |
11 |
108,833,072 (GRCm39) |
missense |
probably benign |
0.00 |
R7662:Axin2
|
UTSW |
11 |
108,833,282 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7947:Axin2
|
UTSW |
11 |
108,814,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R8103:Axin2
|
UTSW |
11 |
108,822,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R8766:Axin2
|
UTSW |
11 |
108,814,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R8917:Axin2
|
UTSW |
11 |
108,822,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R9043:Axin2
|
UTSW |
11 |
108,833,794 (GRCm39) |
missense |
probably benign |
0.02 |
R9169:Axin2
|
UTSW |
11 |
108,822,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R9279:Axin2
|
UTSW |
11 |
108,833,128 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9358:Axin2
|
UTSW |
11 |
108,814,873 (GRCm39) |
missense |
probably benign |
0.01 |
R9467:Axin2
|
UTSW |
11 |
108,833,782 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9789:Axin2
|
UTSW |
11 |
108,840,180 (GRCm39) |
missense |
probably damaging |
1.00 |
X0054:Axin2
|
UTSW |
11 |
108,814,400 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Axin2
|
UTSW |
11 |
108,814,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |