Incidental Mutation 'R3051:Axin1'
| ID |
264965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axin1
|
| Ensembl Gene |
ENSMUSG00000024182 |
| Gene Name |
axin 1 |
| Synonyms |
|
| MMRRC Submission |
040560-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3051 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26357662-26414785 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26409099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 700
(T700A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074370]
[ENSMUST00000118904]
[ENSMUST00000163421]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074370
AA Change: T700A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000073974
Gene: ENSMUSG00000024182
AA Change: T700A
| 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: T700A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000113756
Gene: ENSMUSG00000024182
AA Change: T700A
| 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: T700A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000132000
Gene: ENSMUSG00000024182
AA Change: T700A
| 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 |
noncoding transcript
Transcript: ENSMUST00000169268
|
| Meta Mutation Damage Score |
0.0601 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
G |
A |
8: 46,974,374 (GRCm39) |
V330I |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,933,816 (GRCm39) |
L436P |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,268,188 (GRCm39) |
M100L |
probably benign |
Het |
| Ceacam20 |
T |
A |
7: 19,710,110 (GRCm39) |
V378E |
probably benign |
Het |
| Cwf19l2 |
G |
A |
9: 3,410,006 (GRCm39) |
R45H |
probably benign |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Ddr2 |
T |
C |
1: 169,816,024 (GRCm39) |
K561R |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Ltf |
A |
G |
9: 110,853,590 (GRCm39) |
D280G |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,203,343 (GRCm39) |
E481G |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,060 (GRCm39) |
T99A |
probably benign |
Het |
| Pald1 |
G |
A |
10: 61,182,542 (GRCm39) |
Q412* |
probably null |
Het |
| Ppp4r3c2 |
G |
A |
X: 88,797,709 (GRCm39) |
V514I |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,018,867 (GRCm39) |
Y649H |
probably damaging |
Het |
| R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
| Rbfox3 |
G |
T |
11: 118,393,714 (GRCm39) |
A37D |
probably damaging |
Het |
| Rpa2 |
A |
G |
4: 132,502,437 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc6a7 |
G |
A |
18: 61,142,589 (GRCm39) |
T41M |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Ten1 |
T |
C |
11: 116,096,556 (GRCm39) |
F70S |
possibly damaging |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tktl1 |
A |
G |
X: 73,221,010 (GRCm39) |
T39A |
probably benign |
Het |
| Tmem51 |
A |
T |
4: 141,759,335 (GRCm39) |
Y138N |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 63,918,849 (GRCm39) |
E730K |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
| Zfp345 |
T |
C |
2: 150,316,772 (GRCm39) |
N12D |
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 |
|
|
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'- CGTGGCTCCTTTAGTAGAGC -3'
(R):5'- ACATGGCTATCTTCCCTGAAGG -3'
Sequencing Primer
(F):5'- TCCTTTAGTAGAGCGTGGACACAC -3'
(R):5'- TGAAGGACCCTCTCTAGGCCTTAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation