Incidental Mutation 'R6108:Axin1'
| ID |
485628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axin1
|
| Ensembl Gene |
ENSMUSG00000024182 |
| Gene Name |
axin 1 |
| Synonyms |
|
| MMRRC Submission |
044258-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6108 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26357662-26414785 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26362214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 186
(M186K)
|
| 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: M186K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000073974
Gene: ENSMUSG00000024182
AA Change: M186K
| 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: M186K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113756
Gene: ENSMUSG00000024182
AA Change: M186K
| 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: M186K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132000
Gene: ENSMUSG00000024182
AA Change: M186K
| 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 |
|
| Meta Mutation Damage Score |
0.9544 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
96% (53/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,539,814 (GRCm39) |
F5702L |
probably damaging |
Het |
| Aptx |
G |
A |
4: 40,694,986 (GRCm39) |
Q117* |
probably null |
Het |
| Btbd2 |
A |
T |
10: 80,481,365 (GRCm39) |
L249Q |
probably damaging |
Het |
| Caprin1 |
C |
T |
2: 103,606,362 (GRCm39) |
V293I |
possibly damaging |
Het |
| Ccdc136 |
C |
A |
6: 29,412,449 (GRCm39) |
H334Q |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,911,389 (GRCm39) |
N568S |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,394,210 (GRCm39) |
F515L |
probably benign |
Het |
| Chrm2 |
T |
A |
6: 36,500,230 (GRCm39) |
V29E |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,457,048 (GRCm39) |
L1956P |
probably damaging |
Het |
| Cyp2d22 |
T |
C |
15: 82,256,106 (GRCm39) |
K176R |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,496,004 (GRCm39) |
I3151N |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,304 (GRCm39) |
D792E |
probably benign |
Het |
| Fam167b |
A |
T |
4: 129,472,101 (GRCm39) |
L23* |
probably null |
Het |
| Fermt3 |
C |
A |
19: 6,991,782 (GRCm39) |
R143L |
probably benign |
Het |
| Gfm2 |
A |
G |
13: 97,285,930 (GRCm39) |
I140V |
possibly damaging |
Het |
| Gna14 |
A |
G |
19: 16,580,707 (GRCm39) |
T182A |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,506,978 (GRCm39) |
V3738A |
possibly damaging |
Het |
| Hspa4 |
C |
T |
11: 53,152,539 (GRCm39) |
G810D |
probably damaging |
Het |
| Igf2bp3 |
A |
G |
6: 49,094,308 (GRCm39) |
I154T |
probably damaging |
Het |
| Il1rap |
G |
A |
16: 26,541,457 (GRCm39) |
S566N |
probably damaging |
Het |
| Kcnb1 |
G |
A |
2: 166,947,060 (GRCm39) |
T596M |
probably damaging |
Het |
| Kcnn1 |
A |
C |
8: 71,307,800 (GRCm39) |
S81A |
probably benign |
Het |
| Lmod1 |
G |
A |
1: 135,291,849 (GRCm39) |
G235R |
probably benign |
Het |
| Mei1 |
A |
T |
15: 81,959,389 (GRCm39) |
R185S |
possibly damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,952,960 (GRCm39) |
V414M |
possibly damaging |
Het |
| Mon2 |
C |
A |
10: 122,868,600 (GRCm39) |
M484I |
probably benign |
Het |
| Nae1 |
A |
T |
8: 105,254,034 (GRCm39) |
D99E |
probably benign |
Het |
| Nsun7 |
T |
A |
5: 66,453,142 (GRCm39) |
I619N |
probably damaging |
Het |
| Nudt12 |
C |
A |
17: 59,314,744 (GRCm39) |
R280L |
probably damaging |
Het |
| Or1l4 |
T |
C |
2: 37,091,778 (GRCm39) |
V175A |
possibly damaging |
Het |
| P2ry1 |
T |
A |
3: 60,911,596 (GRCm39) |
I245N |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Plek |
T |
A |
11: 16,940,058 (GRCm39) |
Y217F |
probably damaging |
Het |
| Plpp1 |
A |
T |
13: 113,003,399 (GRCm39) |
I208F |
possibly damaging |
Het |
| Ptges3-ps |
C |
T |
6: 85,821,537 (GRCm39) |
|
noncoding transcript |
Het |
| Ptprf |
A |
G |
4: 118,080,453 (GRCm39) |
L1267P |
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 23,045,658 (GRCm39) |
S2143C |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,393 (GRCm39) |
D1764G |
probably damaging |
Het |
| Serpinb5 |
T |
A |
1: 106,809,458 (GRCm39) |
L288Q |
probably damaging |
Het |
| Slc6a20b |
T |
G |
9: 123,425,251 (GRCm39) |
M539L |
probably benign |
Het |
| Slfnl1 |
A |
G |
4: 120,390,558 (GRCm39) |
T70A |
probably benign |
Het |
| Smtn |
C |
A |
11: 3,479,608 (GRCm39) |
L486F |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,781,420 (GRCm39) |
|
probably null |
Het |
| Tas2r144 |
C |
A |
6: 42,192,691 (GRCm39) |
L144I |
possibly damaging |
Het |
| Tjp3 |
C |
T |
10: 81,116,980 (GRCm39) |
R183K |
probably benign |
Het |
| Tnip3 |
A |
G |
6: 65,502,395 (GRCm39) |
|
probably null |
Het |
| Tspan12 |
T |
A |
6: 21,772,770 (GRCm39) |
M212L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,708,385 (GRCm39) |
|
probably benign |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,545 (GRCm39) |
M48V |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,143,667 (GRCm39) |
F761S |
probably damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
| Wdr72 |
A |
G |
9: 74,058,950 (GRCm39) |
T348A |
probably damaging |
Het |
| Xrn1 |
A |
T |
9: 95,856,480 (GRCm39) |
L333F |
possibly damaging |
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 |
|
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 |
|
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'- CAGCCTGTTCAGGACTTTCC -3'
(R):5'- GTATCCAGACATGCCCTTCC -3'
Sequencing Primer
(F):5'- CTGCAGTGGCTTCAGGAAG -3'
(R):5'- CCTGTTCCAGACCCTGAGC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation