Incidental Mutation 'R5299:Axin1'
ID |
405589 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Axin1
|
Ensembl Gene |
ENSMUSG00000024182 |
Gene Name |
axin 1 |
Synonyms |
|
MMRRC Submission |
042882-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5299 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
26357662-26414785 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26392708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 330
(S330G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132000
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074370]
[ENSMUST00000118904]
[ENSMUST00000163421]
[ENSMUST00000168282]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074370
AA Change: S330G
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000073974 Gene: ENSMUSG00000024182 AA Change: S330G
Domain | Start | End | E-Value | Type |
Pfam:AXIN1_TNKS_BD
|
13 |
85 |
7.5e-27 |
PFAM |
RGS
|
93 |
216 |
3.03e-36 |
SMART |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
coiled coil region
|
394 |
432 |
N/A |
INTRINSIC |
Pfam:Axin_b-cat_bind
|
468 |
523 |
3.2e-13 |
PFAM |
low complexity region
|
533 |
544 |
N/A |
INTRINSIC |
low complexity region
|
699 |
709 |
N/A |
INTRINSIC |
low complexity region
|
713 |
727 |
N/A |
INTRINSIC |
DAX
|
786 |
868 |
5.92e-45 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118904
AA Change: S330G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113756 Gene: ENSMUSG00000024182 AA Change: S330G
Domain | Start | End | E-Value | Type |
RGS
|
93 |
216 |
3.03e-36 |
SMART |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
coiled coil region
|
394 |
432 |
N/A |
INTRINSIC |
Pfam:Axin_b-cat_bind
|
468 |
502 |
1.2e-18 |
PFAM |
low complexity region
|
533 |
544 |
N/A |
INTRINSIC |
low complexity region
|
699 |
709 |
N/A |
INTRINSIC |
coiled coil region
|
712 |
734 |
N/A |
INTRINSIC |
DAX
|
750 |
832 |
5.92e-45 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163421
AA Change: S330G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132000 Gene: ENSMUSG00000024182 AA Change: S330G
Domain | Start | End | E-Value | Type |
RGS
|
93 |
216 |
3.03e-36 |
SMART |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
coiled coil region
|
394 |
432 |
N/A |
INTRINSIC |
Pfam:Axin_b-cat_bind
|
468 |
502 |
1.2e-18 |
PFAM |
low complexity region
|
533 |
544 |
N/A |
INTRINSIC |
low complexity region
|
699 |
709 |
N/A |
INTRINSIC |
coiled coil region
|
712 |
734 |
N/A |
INTRINSIC |
DAX
|
750 |
832 |
5.92e-45 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168282
|
SMART Domains |
Protein: ENSMUSP00000127182 Gene: ENSMUSG00000024182
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
coiled coil region
|
126 |
154 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] PHENOTYPE: Mutant homozygotes die at embryonic day 8-10, exhibiting neuroectodermal defects and axial duplications. Heterozygotes exhibit skeletal, cardiac, and neurological defects including short, bent tails, and deafness with circling behavior. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,381,861 (GRCm39) |
I3838V |
probably damaging |
Het |
Arid1a |
A |
T |
4: 133,414,537 (GRCm39) |
D1231E |
unknown |
Het |
Atxn1 |
A |
T |
13: 45,710,730 (GRCm39) |
I734K |
probably benign |
Het |
Bend3 |
G |
A |
10: 43,369,686 (GRCm39) |
|
probably null |
Het |
Chodl |
C |
T |
16: 78,738,296 (GRCm39) |
T88I |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dst |
A |
G |
1: 34,174,173 (GRCm39) |
I179M |
probably damaging |
Het |
Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
Exoc2 |
A |
T |
13: 31,055,901 (GRCm39) |
|
probably null |
Het |
Grk2 |
T |
C |
19: 4,342,799 (GRCm39) |
E45G |
probably damaging |
Het |
Ift81 |
T |
C |
5: 122,745,119 (GRCm39) |
Y144C |
probably damaging |
Het |
Ighv1-15 |
T |
C |
12: 114,620,998 (GRCm39) |
D109G |
probably damaging |
Het |
Igtp |
T |
C |
11: 58,097,959 (GRCm39) |
W377R |
possibly damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Map2k6 |
A |
G |
11: 110,383,789 (GRCm39) |
D145G |
probably benign |
Het |
Mcph1 |
T |
C |
8: 18,702,596 (GRCm39) |
|
probably benign |
Het |
Mdfi |
A |
G |
17: 48,131,759 (GRCm39) |
V95A |
possibly damaging |
Het |
Mical3 |
A |
G |
6: 120,936,473 (GRCm39) |
L1351P |
possibly damaging |
Het |
Nbas |
C |
T |
12: 13,491,926 (GRCm39) |
Q1506* |
probably null |
Het |
Nelfb |
A |
G |
2: 25,100,757 (GRCm39) |
V128A |
probably benign |
Het |
Otog |
A |
G |
7: 45,938,275 (GRCm39) |
T1995A |
probably benign |
Het |
Ppp1r7 |
A |
T |
1: 93,280,348 (GRCm39) |
I139L |
probably benign |
Het |
Ppp2r1b |
A |
G |
9: 50,768,340 (GRCm39) |
D19G |
probably benign |
Het |
Proca1 |
T |
C |
11: 78,096,078 (GRCm39) |
S150P |
probably damaging |
Het |
Rhof |
A |
G |
5: 123,258,611 (GRCm39) |
V100A |
probably damaging |
Het |
Rsbn1 |
G |
C |
3: 103,821,806 (GRCm39) |
G14R |
probably benign |
Het |
Serinc1 |
A |
G |
10: 57,399,147 (GRCm39) |
I252T |
probably damaging |
Het |
Skint4 |
A |
T |
4: 111,993,203 (GRCm39) |
I309F |
possibly damaging |
Het |
Slc12a3 |
A |
G |
8: 95,078,417 (GRCm39) |
Y815C |
probably damaging |
Het |
Slc25a24 |
A |
G |
3: 109,073,668 (GRCm39) |
S424G |
probably benign |
Het |
Spint2 |
G |
A |
7: 28,963,151 (GRCm39) |
A49V |
probably damaging |
Het |
Traf3ip3 |
T |
A |
1: 192,860,483 (GRCm39) |
K480* |
probably null |
Het |
Ube2g2 |
T |
C |
10: 77,480,379 (GRCm39) |
S162P |
possibly damaging |
Het |
Ubxn8 |
C |
A |
8: 34,131,947 (GRCm39) |
V7L |
possibly damaging |
Het |
Vmn1r200 |
T |
A |
13: 22,579,945 (GRCm39) |
C249* |
probably null |
Het |
Vmn1r38 |
T |
A |
6: 66,753,682 (GRCm39) |
T145S |
probably benign |
Het |
Wapl |
G |
A |
14: 34,455,765 (GRCm39) |
|
probably null |
Het |
Wfdc6a |
T |
C |
2: 164,422,311 (GRCm39) |
N96S |
possibly damaging |
Het |
Zfp503 |
A |
G |
14: 22,035,507 (GRCm39) |
S470P |
probably benign |
Het |
|
Other mutations in Axin1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00159:Axin1
|
APN |
17 |
26,361,779 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00229:Axin1
|
APN |
17 |
26,413,046 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01141:Axin1
|
APN |
17 |
26,409,015 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02088:Axin1
|
APN |
17 |
26,407,669 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02413:Axin1
|
APN |
17 |
26,407,153 (GRCm39) |
missense |
probably benign |
0.00 |
Salvation
|
UTSW |
17 |
26,362,214 (GRCm39) |
missense |
probably damaging |
0.98 |
R0331:Axin1
|
UTSW |
17 |
26,362,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R0454:Axin1
|
UTSW |
17 |
26,392,637 (GRCm39) |
missense |
probably benign |
0.00 |
R0538:Axin1
|
UTSW |
17 |
26,403,215 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0755:Axin1
|
UTSW |
17 |
26,401,480 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0976:Axin1
|
UTSW |
17 |
26,407,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R1634:Axin1
|
UTSW |
17 |
26,406,965 (GRCm39) |
missense |
probably damaging |
0.99 |
R1950:Axin1
|
UTSW |
17 |
26,412,938 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1965:Axin1
|
UTSW |
17 |
26,409,202 (GRCm39) |
missense |
probably damaging |
0.97 |
R1965:Axin1
|
UTSW |
17 |
26,403,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R2180:Axin1
|
UTSW |
17 |
26,362,309 (GRCm39) |
missense |
probably benign |
|
R3051:Axin1
|
UTSW |
17 |
26,409,099 (GRCm39) |
missense |
probably benign |
0.01 |
R3413:Axin1
|
UTSW |
17 |
26,407,012 (GRCm39) |
missense |
probably damaging |
0.99 |
R3849:Axin1
|
UTSW |
17 |
26,406,771 (GRCm39) |
missense |
probably benign |
0.01 |
R4530:Axin1
|
UTSW |
17 |
26,407,146 (GRCm39) |
missense |
probably benign |
0.09 |
R4560:Axin1
|
UTSW |
17 |
26,392,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R4764:Axin1
|
UTSW |
17 |
26,392,730 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4976:Axin1
|
UTSW |
17 |
26,413,045 (GRCm39) |
missense |
probably benign |
0.24 |
R4976:Axin1
|
UTSW |
17 |
26,413,044 (GRCm39) |
missense |
probably benign |
0.42 |
R5682:Axin1
|
UTSW |
17 |
26,406,775 (GRCm39) |
missense |
probably benign |
|
R5690:Axin1
|
UTSW |
17 |
26,413,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R5722:Axin1
|
UTSW |
17 |
26,401,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R5793:Axin1
|
UTSW |
17 |
26,362,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R6108:Axin1
|
UTSW |
17 |
26,362,214 (GRCm39) |
missense |
probably damaging |
0.98 |
R6282:Axin1
|
UTSW |
17 |
26,362,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R6490:Axin1
|
UTSW |
17 |
26,361,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R7153:Axin1
|
UTSW |
17 |
26,406,942 (GRCm39) |
missense |
probably benign |
|
R7181:Axin1
|
UTSW |
17 |
26,392,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R7456:Axin1
|
UTSW |
17 |
26,362,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R8863:Axin1
|
UTSW |
17 |
26,362,375 (GRCm39) |
missense |
probably benign |
|
R8964:Axin1
|
UTSW |
17 |
26,361,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGTACATGCTCTTTCTGCTC -3'
(R):5'- CCACTTACAGGGTAGTCTGTCATC -3'
Sequencing Primer
(F):5'- ACATGCTCTTTCTGCTCTGTTTTTAG -3'
(R):5'- CTCACAAGCATCTGTAGTGGGATC -3'
|
Posted On |
2016-07-22 |