Incidental Mutation 'R0976:Axin1'
| ID |
81201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axin1
|
| Ensembl Gene |
ENSMUSG00000024182 |
| Gene Name |
axin 1 |
| Synonyms |
|
| MMRRC Submission |
039105-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0976 (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 26407060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 551
(E551G)
|
| 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 |
probably damaging
Transcript: ENSMUST00000074370
AA Change: E551G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073974
Gene: ENSMUSG00000024182
AA Change: E551G
| 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: E551G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113756
Gene: ENSMUSG00000024182
AA Change: E551G
| 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: E551G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132000
Gene: ENSMUSG00000024182
AA Change: E551G
| 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 |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.6%
- 20x: 95.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,807,227 (GRCm39) |
I1147F |
probably damaging |
Het |
| Arl10 |
T |
C |
13: 54,723,621 (GRCm39) |
|
probably benign |
Het |
| Ccr6 |
T |
A |
17: 8,475,254 (GRCm39) |
L153Q |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 47,248,164 (GRCm39) |
P1190L |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,342,144 (GRCm39) |
D416V |
probably damaging |
Het |
| Cyp2c67 |
G |
T |
19: 39,631,818 (GRCm39) |
F126L |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,327,278 (GRCm39) |
I490V |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,228,098 (GRCm39) |
|
probably null |
Het |
| Fam83f |
T |
A |
15: 80,576,285 (GRCm39) |
V312E |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,828,375 (GRCm39) |
D6724G |
possibly damaging |
Het |
| Gabrr3 |
G |
T |
16: 59,281,887 (GRCm39) |
C414F |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| H2bc18 |
T |
A |
3: 96,177,402 (GRCm39) |
V112E |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,347,160 (GRCm39) |
K2005M |
possibly damaging |
Het |
| Isyna1 |
C |
A |
8: 71,048,936 (GRCm39) |
N338K |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,205,760 (GRCm39) |
D39G |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,690,411 (GRCm39) |
R306S |
possibly damaging |
Het |
| Nek2 |
A |
G |
1: 191,559,349 (GRCm39) |
R285G |
probably benign |
Het |
| Nrg2 |
A |
G |
18: 36,154,144 (GRCm39) |
I591T |
probably benign |
Het |
| Or8u8 |
A |
G |
2: 86,012,152 (GRCm39) |
L101S |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,335,236 (GRCm39) |
S517P |
probably damaging |
Het |
| Pdcd2l |
G |
T |
7: 33,895,771 (GRCm39) |
D67E |
probably benign |
Het |
| Pex1 |
C |
A |
5: 3,683,943 (GRCm39) |
D1146E |
probably benign |
Het |
| Pid1 |
A |
T |
1: 84,136,946 (GRCm39) |
Y62N |
probably benign |
Het |
| Ppp4r1 |
T |
C |
17: 66,148,013 (GRCm39) |
*935R |
probably null |
Het |
| Stag1 |
T |
C |
9: 100,658,877 (GRCm39) |
F155L |
probably damaging |
Het |
| Stag1 |
G |
A |
9: 100,812,069 (GRCm39) |
|
probably null |
Het |
| Taok2 |
C |
T |
7: 126,474,323 (GRCm39) |
R302Q |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,445,882 (GRCm39) |
V103A |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,349 (GRCm39) |
I79N |
probably damaging |
Het |
| Tgfb3 |
G |
A |
12: 86,116,606 (GRCm39) |
T144I |
probably damaging |
Het |
| Top1 |
A |
G |
2: 160,559,343 (GRCm39) |
N622S |
possibly damaging |
Het |
| Trappc9 |
T |
A |
15: 72,871,823 (GRCm39) |
Q489L |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,056,108 (GRCm39) |
T677A |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,036,104 (GRCm39) |
F292L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGAGAATCCTGAGAGCATCCTG -3'
(R):5'- GGCTGGATCAAGACTCACCCAAAG -3'
Sequencing Primer
(F):5'- CCTGAGAGCATCCTGGATGAG -3'
(R):5'- GACTCACCCAAAGGCCAAATC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation