Incidental Mutation 'IGL02088:Axin1'
ID |
279320 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Axin1
|
Ensembl Gene |
ENSMUSG00000024182 |
Gene Name |
axin 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02088
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
26357662-26414785 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26407669 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 637
(I637V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073974
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074370]
[ENSMUST00000118904]
[ENSMUST00000163421]
[ENSMUST00000168282]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074370
AA Change: I637V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000073974 Gene: ENSMUSG00000024182 AA Change: I637V
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 benign
Transcript: ENSMUST00000118904
AA Change: I637V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000113756 Gene: ENSMUSG00000024182 AA Change: I637V
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: ENSMUST00000163421
AA Change: I637V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000132000 Gene: ENSMUSG00000024182 AA Change: I637V
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169268
|
Coding Region Coverage |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr4 |
T |
C |
9: 103,976,080 (GRCm39) |
E289G |
probably damaging |
Het |
Aldh1l1 |
A |
T |
6: 90,557,572 (GRCm39) |
|
probably benign |
Het |
Ampd3 |
T |
A |
7: 110,392,893 (GRCm39) |
D220E |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,835,203 (GRCm39) |
V136A |
probably damaging |
Het |
Atg14 |
T |
C |
14: 47,780,316 (GRCm39) |
K486R |
probably benign |
Het |
Axin2 |
T |
A |
11: 108,814,442 (GRCm39) |
F110Y |
probably damaging |
Het |
Cdh12 |
A |
T |
15: 21,480,425 (GRCm39) |
K214* |
probably null |
Het |
Cfap44 |
A |
C |
16: 44,271,991 (GRCm39) |
E1248A |
possibly damaging |
Het |
Cryba4 |
A |
G |
5: 112,398,875 (GRCm39) |
|
probably benign |
Het |
Cyp2c68 |
A |
G |
19: 39,691,965 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,459,264 (GRCm39) |
|
probably null |
Het |
Dok3 |
A |
T |
13: 55,672,183 (GRCm39) |
V165E |
probably damaging |
Het |
Etl4 |
A |
T |
2: 20,811,359 (GRCm39) |
R1147S |
probably damaging |
Het |
Fbxl6 |
G |
T |
15: 76,420,106 (GRCm39) |
C502* |
probably null |
Het |
Gp2 |
A |
T |
7: 119,053,692 (GRCm39) |
Y90N |
probably damaging |
Het |
H1f7 |
G |
T |
15: 98,155,059 (GRCm39) |
T30K |
probably damaging |
Het |
Inka1 |
A |
G |
9: 107,861,656 (GRCm39) |
F220S |
probably damaging |
Het |
Itfg2 |
A |
G |
6: 128,388,569 (GRCm39) |
V306A |
probably benign |
Het |
Lrig2 |
T |
C |
3: 104,374,424 (GRCm39) |
Y219C |
probably damaging |
Het |
Mccc1 |
A |
T |
3: 36,028,351 (GRCm39) |
I485N |
probably damaging |
Het |
Mettl25 |
A |
G |
10: 105,659,111 (GRCm39) |
F391L |
probably damaging |
Het |
Muc19 |
C |
T |
15: 91,775,362 (GRCm39) |
|
noncoding transcript |
Het |
Muc2 |
T |
C |
7: 141,305,241 (GRCm39) |
C182R |
probably damaging |
Het |
Nlrp4g |
T |
C |
9: 124,350,453 (GRCm38) |
|
noncoding transcript |
Het |
Nms |
A |
G |
1: 38,978,358 (GRCm39) |
|
probably benign |
Het |
Nr3c1 |
T |
C |
18: 39,557,444 (GRCm39) |
N503S |
probably damaging |
Het |
Or10q12 |
T |
C |
19: 13,746,030 (GRCm39) |
F108S |
probably damaging |
Het |
Or5h18 |
A |
G |
16: 58,847,415 (GRCm39) |
L285P |
probably damaging |
Het |
Or7g16 |
C |
T |
9: 18,727,219 (GRCm39) |
V124I |
probably benign |
Het |
Pcdhb5 |
G |
A |
18: 37,455,012 (GRCm39) |
S464N |
probably benign |
Het |
Pcgf6 |
T |
C |
19: 47,039,243 (GRCm39) |
T6A |
unknown |
Het |
Rdx |
A |
G |
9: 51,972,183 (GRCm39) |
|
probably benign |
Het |
Shmt1 |
T |
C |
11: 60,680,479 (GRCm39) |
T403A |
probably damaging |
Het |
Slc35d1 |
A |
G |
4: 103,068,522 (GRCm39) |
F148L |
probably benign |
Het |
Tk1 |
A |
G |
11: 117,715,491 (GRCm39) |
|
probably benign |
Het |
Tnks |
T |
A |
8: 35,307,148 (GRCm39) |
I1134F |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,557,035 (GRCm39) |
V29990A |
probably damaging |
Het |
Tut4 |
A |
G |
4: 108,369,415 (GRCm39) |
|
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 |
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 |
R5299:Axin1
|
UTSW |
17 |
26,392,708 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
Posted On |
2015-04-16 |