Incidental Mutation 'IGL01563:Axin2'
| ID |
90901 |
| 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 # |
IGL01563
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
108811175-108841609 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108814631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 173
(Q173R)
|
| 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: Q173R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000051331
Gene: ENSMUSG00000000142
AA Change: Q173R
| 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: Q173R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102322
Gene: ENSMUSG00000000142
AA Change: Q173R
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,604,965 (GRCm39) |
E2205G |
probably damaging |
Het |
| Arid2 |
G |
A |
15: 96,270,278 (GRCm39) |
V1464I |
probably damaging |
Het |
| Best1 |
A |
G |
19: 9,964,099 (GRCm39) |
F454L |
probably benign |
Het |
| CK137956 |
T |
G |
4: 127,864,428 (GRCm39) |
K67T |
possibly damaging |
Het |
| Col14a1 |
G |
A |
15: 55,351,337 (GRCm39) |
G1555R |
unknown |
Het |
| Csad |
G |
A |
15: 102,095,598 (GRCm39) |
S153F |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,892,930 (GRCm39) |
D315V |
probably damaging |
Het |
| Galnt3 |
G |
A |
2: 65,928,101 (GRCm39) |
A265V |
probably damaging |
Het |
| Gm5901 |
C |
A |
7: 105,026,722 (GRCm39) |
Y163* |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,356,074 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,469,399 (GRCm39) |
D138G |
probably damaging |
Het |
| Has1 |
A |
T |
17: 18,063,924 (GRCm39) |
|
probably benign |
Het |
| Ighv1-42 |
A |
G |
12: 114,900,804 (GRCm39) |
S94P |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,824,787 (GRCm39) |
L569Q |
probably damaging |
Het |
| Nedd1 |
C |
T |
10: 92,534,031 (GRCm39) |
|
probably null |
Het |
| Or2b2 |
A |
G |
13: 21,887,243 (GRCm39) |
E24G |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,997 (GRCm39) |
I214N |
probably damaging |
Het |
| Pdcd4 |
G |
A |
19: 53,917,552 (GRCm39) |
R463H |
probably benign |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,637,120 (GRCm39) |
V364A |
probably benign |
Het |
| Rps19bp1 |
A |
G |
15: 80,145,532 (GRCm39) |
M84T |
probably benign |
Het |
| Sass6 |
A |
T |
3: 116,398,847 (GRCm39) |
D43V |
probably damaging |
Het |
| Senp6 |
G |
A |
9: 80,029,290 (GRCm39) |
S551N |
probably benign |
Het |
| Sh2d2a |
A |
G |
3: 87,759,432 (GRCm39) |
E273G |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,889,908 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
C |
T |
11: 60,674,671 (GRCm39) |
R816C |
possibly damaging |
Het |
| Trappc8 |
A |
T |
18: 20,970,103 (GRCm39) |
N962K |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,656,604 (GRCm39) |
E677G |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,195,998 (GRCm39) |
P961T |
probably damaging |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,061 (GRCm39) |
V239A |
possibly damaging |
Het |
| Vps41 |
T |
C |
13: 18,966,897 (GRCm39) |
|
probably benign |
Het |
| Vwf |
A |
T |
6: 125,568,128 (GRCm39) |
D341V |
probably damaging |
Het |
| Zfp618 |
C |
T |
4: 62,998,133 (GRCm39) |
P45L |
probably benign |
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 |
|
|
IGL01094:Axin2
|
APN |
11 |
108,814,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2013-12-09 |
Incidental Mutation