Incidental Mutation 'IGL00339:Axin2'
| ID |
4477 |
| 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 # |
IGL00339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
108811175-108841609 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108814816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 235
(T235A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052915]
[ENSMUST00000106711]
[ENSMUST00000140821]
[ENSMUST00000144511]
[ENSMUST00000152909]
|
| AlphaFold |
O88566 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052915
AA Change: T235A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000051331
Gene: ENSMUSG00000000142
AA Change: T235A
| 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 |
probably benign
Transcript: ENSMUST00000106711
AA Change: T235A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102322
Gene: ENSMUSG00000000142
AA Change: T235A
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,213,893 (GRCm39) |
M707V |
probably benign |
Het |
| Amz2 |
A |
T |
11: 109,324,847 (GRCm39) |
I244F |
probably damaging |
Het |
| Atp4a |
T |
C |
7: 30,412,629 (GRCm39) |
C112R |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brd8 |
C |
A |
18: 34,742,936 (GRCm39) |
G310* |
probably null |
Het |
| Capn11 |
A |
T |
17: 45,954,693 (GRCm39) |
I148N |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,694,425 (GRCm39) |
L392P |
probably benign |
Het |
| Cep72 |
C |
T |
13: 74,210,387 (GRCm39) |
|
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,467 (GRCm39) |
Y298C |
possibly damaging |
Het |
| Cyp21a1 |
C |
T |
17: 35,023,108 (GRCm39) |
|
probably null |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,449 (GRCm39) |
D381G |
probably damaging |
Het |
| Fnip2 |
T |
G |
3: 79,422,462 (GRCm39) |
H106P |
probably benign |
Het |
| Fosl1 |
T |
A |
19: 5,500,330 (GRCm39) |
I83K |
probably damaging |
Het |
| Foxk2 |
C |
T |
11: 121,190,560 (GRCm39) |
T567M |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,599,525 (GRCm39) |
N208S |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Heatr5a |
A |
T |
12: 51,935,684 (GRCm39) |
I1634N |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,266,506 (GRCm39) |
T1889M |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,909,845 (GRCm39) |
P457S |
probably damaging |
Het |
| Kcnk18 |
G |
T |
19: 59,223,502 (GRCm39) |
A216S |
probably benign |
Het |
| Klhl42 |
A |
G |
6: 147,003,231 (GRCm39) |
Y335C |
probably damaging |
Het |
| Lrguk |
C |
T |
6: 34,020,364 (GRCm39) |
P36L |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,368,304 (GRCm39) |
R443S |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,963,649 (GRCm39) |
S501P |
probably benign |
Het |
| Neurl4 |
C |
T |
11: 69,795,413 (GRCm39) |
R422W |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 22,956,469 (GRCm39) |
S311G |
probably benign |
Het |
| Oaf |
T |
C |
9: 43,135,313 (GRCm39) |
D155G |
probably damaging |
Het |
| Oas1g |
T |
A |
5: 121,024,109 (GRCm39) |
K67* |
probably null |
Het |
| Or1l4 |
T |
C |
2: 37,091,609 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2a20 |
T |
G |
6: 43,194,782 (GRCm39) |
L312V |
probably benign |
Het |
| Rims2 |
C |
A |
15: 39,323,011 (GRCm39) |
T735K |
probably benign |
Het |
| Sema4f |
T |
C |
6: 82,914,155 (GRCm39) |
T68A |
probably benign |
Het |
| Snx19 |
T |
G |
9: 30,340,380 (GRCm39) |
V506G |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,569,543 (GRCm39) |
C107* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,460,680 (GRCm39) |
|
probably benign |
Het |
| Syce1l |
T |
G |
8: 114,376,134 (GRCm39) |
L28R |
probably damaging |
Het |
| Tgm3 |
G |
A |
2: 129,880,333 (GRCm39) |
V380M |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,143,628 (GRCm39) |
V104D |
possibly damaging |
Het |
|
| Other mutations in Axin2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01094:Axin2
|
APN |
11 |
108,814,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2012-04-20 |
Incidental Mutation