Incidental Mutation 'R0029:Axin2'
| ID |
44585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axin2
|
| Ensembl Gene |
ENSMUSG00000000142 |
| Gene Name |
axin 2 |
| Synonyms |
Axil, Conductin |
| MMRRC Submission |
038323-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
108811175-108841609 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108814873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 254
(T254A)
|
| 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: T254A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000051331
Gene: ENSMUSG00000000142
AA Change: T254A
| 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: T254A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000102322
Gene: ENSMUSG00000000142
AA Change: T254A
| 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 |
|
| Meta Mutation Damage Score |
0.0606 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
94% (48/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,945,225 (GRCm39) |
F434L |
probably benign |
Het |
| Abt1 |
A |
T |
13: 23,606,678 (GRCm39) |
F141Y |
possibly damaging |
Het |
| Anapc15-ps |
A |
G |
10: 95,508,857 (GRCm39) |
I141T |
probably damaging |
Het |
| Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
| Ccn4 |
C |
T |
15: 66,784,713 (GRCm39) |
R129C |
probably damaging |
Het |
| Ciz1 |
A |
G |
2: 32,261,431 (GRCm39) |
|
probably benign |
Het |
| Cpa4 |
A |
G |
6: 30,585,044 (GRCm39) |
Y276C |
probably damaging |
Het |
| Cpt1a |
A |
G |
19: 3,431,674 (GRCm39) |
D698G |
probably benign |
Het |
| Crebbp |
T |
C |
16: 3,935,307 (GRCm39) |
T861A |
probably damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,469,397 (GRCm39) |
D753V |
probably damaging |
Het |
| Exosc7 |
A |
T |
9: 122,948,302 (GRCm39) |
|
probably benign |
Het |
| Fbxw28 |
T |
A |
9: 109,157,357 (GRCm39) |
D244V |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 92,044,539 (GRCm39) |
D1260G |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,568,153 (GRCm39) |
I1404F |
probably damaging |
Het |
| Gas7 |
A |
G |
11: 67,534,163 (GRCm39) |
S88G |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,151,173 (GRCm39) |
D57G |
probably damaging |
Het |
| Il23r |
A |
C |
6: 67,455,929 (GRCm39) |
|
probably null |
Het |
| Impg1 |
T |
C |
9: 80,305,653 (GRCm39) |
D138G |
probably damaging |
Het |
| Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
| Kirrel2 |
A |
G |
7: 30,152,590 (GRCm39) |
|
probably benign |
Het |
| Lipm |
T |
C |
19: 34,093,948 (GRCm39) |
|
probably benign |
Het |
| Lrpap1 |
T |
C |
5: 35,255,021 (GRCm39) |
N205S |
possibly damaging |
Het |
| Mboat4 |
T |
G |
8: 34,587,363 (GRCm39) |
F87V |
probably damaging |
Het |
| Nadsyn1 |
G |
C |
7: 143,359,815 (GRCm39) |
Q386E |
probably benign |
Het |
| Nell1 |
G |
A |
7: 49,770,463 (GRCm39) |
|
probably benign |
Het |
| Or5ac25 |
T |
C |
16: 59,181,904 (GRCm39) |
R226G |
probably benign |
Het |
| Or8g35 |
T |
A |
9: 39,381,956 (GRCm39) |
E22V |
probably benign |
Het |
| Pard3 |
G |
T |
8: 128,153,239 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
A |
1: 91,351,434 (GRCm39) |
R1024L |
possibly damaging |
Het |
| Phf11c |
T |
C |
14: 59,622,364 (GRCm39) |
D216G |
probably benign |
Het |
| Polk |
G |
A |
13: 96,653,178 (GRCm39) |
T74I |
probably damaging |
Het |
| Prmt6 |
T |
C |
3: 110,157,214 (GRCm39) |
I358M |
probably benign |
Het |
| Psmb7 |
T |
A |
2: 38,523,919 (GRCm39) |
H152L |
probably damaging |
Het |
| Ralgps1 |
A |
T |
2: 33,031,031 (GRCm39) |
D498E |
probably benign |
Het |
| Slc26a2 |
G |
A |
18: 61,335,382 (GRCm39) |
P24S |
possibly damaging |
Het |
| Slc4a11 |
A |
G |
2: 130,529,974 (GRCm39) |
F268S |
probably damaging |
Het |
| Spmip11 |
T |
C |
15: 98,483,190 (GRCm39) |
|
probably null |
Het |
| Stk38 |
T |
C |
17: 29,201,112 (GRCm39) |
E188G |
probably benign |
Het |
| Sulf2 |
T |
C |
2: 165,958,893 (GRCm39) |
N105S |
possibly damaging |
Het |
| Sult2a3 |
T |
A |
7: 13,806,999 (GRCm39) |
M228L |
probably benign |
Het |
| Svil |
C |
A |
18: 5,063,286 (GRCm39) |
D852E |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,607,093 (GRCm39) |
L287* |
probably null |
Het |
| Tmem132e |
A |
T |
11: 82,335,587 (GRCm39) |
I890F |
probably damaging |
Het |
| Tmem63a |
A |
G |
1: 180,790,031 (GRCm39) |
Y401C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,596,850 (GRCm39) |
E20021G |
probably damaging |
Het |
| Ubac1 |
G |
T |
2: 25,911,455 (GRCm39) |
T31N |
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,964,580 (GRCm39) |
L141P |
probably damaging |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,740,588 (GRCm39) |
Y73C |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,365 (GRCm39) |
I739V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTGATGGAGGAAAATGCCTACC -3'
(R):5'- AGCTATGTCTGCATTGCAACTCCC -3'
Sequencing Primer
(F):5'- GAAAATGCCTACCAGGTGTTC -3'
(R):5'- CATGAGATCAAAGGGTTCCTAGC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation