Incidental Mutation 'R1924:Axin2'
| ID |
213299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axin2
|
| Ensembl Gene |
ENSMUSG00000000142 |
| Gene Name |
axin 2 |
| Synonyms |
Axil, Conductin |
| MMRRC Submission |
039942-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1924 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
108811175-108841609 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108833794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 580
(N580K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052915]
[ENSMUST00000106711]
|
| AlphaFold |
O88566 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052915
AA Change: N580K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000051331
Gene: ENSMUSG00000000142
AA Change: N580K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102322
Gene: ENSMUSG00000000142
| 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 |
noncoding transcript
Transcript: ENSMUST00000139682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143435
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144130
|
| Meta Mutation Damage Score |
0.0590 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
94% (63/67) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
G |
A |
5: 114,368,781 (GRCm39) |
M1666I |
possibly damaging |
Het |
| Adamts13 |
A |
T |
2: 26,874,153 (GRCm39) |
Q434L |
probably damaging |
Het |
| Adgrg3 |
G |
A |
8: 95,762,562 (GRCm39) |
R204H |
probably benign |
Het |
| Arhgef28 |
A |
C |
13: 98,073,324 (GRCm39) |
|
probably benign |
Het |
| AU041133 |
T |
A |
10: 81,987,101 (GRCm39) |
C251* |
probably null |
Het |
| C4b |
A |
G |
17: 34,948,631 (GRCm39) |
C1560R |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,334,880 (GRCm39) |
I809T |
possibly damaging |
Het |
| Cacna1s |
C |
A |
1: 136,016,755 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,688,857 (GRCm39) |
S151G |
probably damaging |
Het |
| Capn1 |
T |
C |
19: 6,040,086 (GRCm39) |
|
probably null |
Het |
| Capn9 |
A |
G |
8: 125,302,965 (GRCm39) |
S28G |
probably benign |
Het |
| Ccdc73 |
A |
G |
2: 104,822,637 (GRCm39) |
D862G |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,061,979 (GRCm39) |
L237P |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,440,802 (GRCm39) |
I1120V |
possibly damaging |
Het |
| Chad |
A |
C |
11: 94,456,384 (GRCm39) |
N154T |
possibly damaging |
Het |
| Cog1 |
C |
T |
11: 113,547,038 (GRCm39) |
T544I |
probably benign |
Het |
| Cracd |
A |
T |
5: 77,006,470 (GRCm39) |
T944S |
unknown |
Het |
| Ctnna2 |
T |
C |
6: 76,931,830 (GRCm39) |
E590G |
possibly damaging |
Het |
| Dapk2 |
T |
A |
9: 66,072,642 (GRCm39) |
M6K |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,421,487 (GRCm39) |
E311G |
possibly damaging |
Het |
| Ddr2 |
T |
A |
1: 169,809,641 (GRCm39) |
T779S |
probably benign |
Het |
| Dhtkd1 |
A |
G |
2: 5,916,744 (GRCm39) |
V644A |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,414,934 (GRCm39) |
V147A |
possibly damaging |
Het |
| Ear10 |
A |
T |
14: 44,160,357 (GRCm39) |
*157K |
probably null |
Het |
| Gm10801 |
T |
C |
2: 98,494,197 (GRCm39) |
I113T |
probably damaging |
Het |
| Gmps |
T |
G |
3: 63,906,049 (GRCm39) |
C449G |
probably damaging |
Het |
| Grin3a |
A |
G |
4: 49,844,988 (GRCm39) |
S32P |
possibly damaging |
Het |
| Igkv1-115 |
A |
T |
6: 68,138,592 (GRCm39) |
D65V |
probably damaging |
Het |
| Klk1b4 |
A |
G |
7: 43,859,105 (GRCm39) |
N41S |
probably benign |
Het |
| Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
T |
A |
2: 30,145,262 (GRCm39) |
D25E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,421,960 (GRCm39) |
R4426G |
possibly damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myo5a |
G |
T |
9: 75,023,489 (GRCm39) |
D17Y |
probably damaging |
Het |
| Nat1 |
C |
G |
8: 67,944,076 (GRCm39) |
L154V |
probably benign |
Het |
| Nek3 |
T |
A |
8: 22,647,047 (GRCm39) |
T163S |
probably damaging |
Het |
| Or2w25 |
G |
T |
11: 59,503,949 (GRCm39) |
R53L |
possibly damaging |
Het |
| Or5p80 |
A |
G |
7: 108,229,562 (GRCm39) |
D121G |
probably damaging |
Het |
| Or6c204 |
A |
G |
10: 129,023,044 (GRCm39) |
I82T |
possibly damaging |
Het |
| Or8d2b |
T |
A |
9: 38,789,147 (GRCm39) |
I225N |
probably damaging |
Het |
| Or8g32 |
A |
T |
9: 39,305,163 (GRCm39) |
E22D |
possibly damaging |
Het |
| Or9s13 |
T |
C |
1: 92,548,525 (GRCm39) |
L299P |
probably damaging |
Het |
| Osr1 |
T |
G |
12: 9,629,268 (GRCm39) |
L47R |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,291,053 (GRCm39) |
N493I |
possibly damaging |
Het |
| Polr3e |
T |
A |
7: 120,539,820 (GRCm39) |
N522K |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,385,771 (GRCm39) |
|
probably null |
Het |
| Rp1l1 |
C |
A |
14: 64,268,992 (GRCm39) |
A1526E |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,291,878 (GRCm39) |
I1623F |
probably damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,437,428 (GRCm39) |
T104A |
probably benign |
Het |
| Sh3rf3 |
T |
C |
10: 58,939,989 (GRCm39) |
|
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,245,748 (GRCm39) |
Y213H |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,106,563 (GRCm39) |
R955H |
probably damaging |
Het |
| Tfb1m |
A |
T |
17: 3,569,946 (GRCm39) |
Y307N |
probably damaging |
Het |
| Tnrc6b |
G |
T |
15: 80,768,407 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,938,936 (GRCm39) |
Y501H |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,191,914 (GRCm39) |
H315R |
probably damaging |
Het |
| Zeb2 |
A |
G |
2: 44,892,624 (GRCm39) |
Y142H |
probably damaging |
Het |
| Zfr |
T |
C |
15: 12,160,715 (GRCm39) |
S763P |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGCGGAAGTTGCAGTAC -3'
(R):5'- TTTCCACAGACGGCAGAAATAGC -3'
Sequencing Primer
(F):5'- AAGTTGCAGTACGGGCTG -3'
(R):5'- GGCAGAAATAGCCGTCTCC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation