Incidental Mutation 'R8863:Axin1'
| ID |
675790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axin1
|
| Ensembl Gene |
ENSMUSG00000024182 |
| Gene Name |
axin 1 |
| Synonyms |
|
| MMRRC Submission |
068679-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8863 (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 C
at 26362375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 240
(S240P)
|
| 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: S240P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073974
Gene: ENSMUSG00000024182
AA Change: S240P
| 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: S240P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113756
Gene: ENSMUSG00000024182
AA Change: S240P
| 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: S240P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132000
Gene: ENSMUSG00000024182
AA Change: S240P
| 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 |
possibly damaging
Transcript: ENSMUST00000168282
AA Change: S19P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127182
Gene: ENSMUSG00000024182
AA Change: S19P
| 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 |
0.0597 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
G |
7: 127,836,123 (GRCm39) |
S157P |
possibly damaging |
Het |
| Aasdhppt |
C |
A |
9: 4,309,424 (GRCm39) |
A5S |
possibly damaging |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,042 (GRCm39) |
L14P |
probably benign |
Het |
| Asb16 |
T |
C |
11: 102,168,058 (GRCm39) |
Y373H |
probably damaging |
Het |
| C2cd5 |
T |
C |
6: 142,987,088 (GRCm39) |
I505V |
possibly damaging |
Het |
| Camk2g |
A |
G |
14: 20,810,244 (GRCm39) |
L305P |
probably damaging |
Het |
| Ccm2 |
A |
G |
11: 6,535,211 (GRCm39) |
K156E |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,212,613 (GRCm39) |
Y1600* |
probably null |
Het |
| Cyp2c29 |
A |
G |
19: 39,261,810 (GRCm39) |
Q16R |
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,774,666 (GRCm39) |
V221E |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,831,006 (GRCm39) |
D73G |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,591,262 (GRCm39) |
E125G |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igfbp3 |
A |
G |
11: 7,163,568 (GRCm39) |
C75R |
probably damaging |
Het |
| Itgb4 |
T |
A |
11: 115,875,898 (GRCm39) |
C478* |
probably null |
Het |
| L3mbtl4 |
T |
A |
17: 68,986,419 (GRCm39) |
C488S |
probably benign |
Het |
| Lysmd4 |
T |
C |
7: 66,873,493 (GRCm39) |
S43P |
probably damaging |
Het |
| Mocs2 |
A |
G |
13: 114,962,815 (GRCm39) |
K167E |
probably damaging |
Het |
| Mpl |
C |
A |
4: 118,314,602 (GRCm39) |
V23F |
|
Het |
| Muc4 |
A |
T |
16: 32,570,280 (GRCm39) |
I447F |
possibly damaging |
Het |
| Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
| Ncf2 |
A |
G |
1: 152,711,864 (GRCm39) |
*526W |
probably null |
Het |
| Oas1a |
C |
T |
5: 121,043,943 (GRCm39) |
G63D |
probably damaging |
Het |
| Or2q1 |
A |
T |
6: 42,794,780 (GRCm39) |
Y125F |
probably damaging |
Het |
| Or5ac15 |
G |
T |
16: 58,939,712 (GRCm39) |
C240* |
probably null |
Het |
| Or8c17 |
T |
C |
9: 38,180,655 (GRCm39) |
V274A |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,631,383 (GRCm39) |
N409S |
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,433,382 (GRCm39) |
Q3421* |
probably null |
Het |
| Plekha7 |
T |
A |
7: 115,753,875 (GRCm39) |
D664V |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,437,233 (GRCm39) |
M66T |
possibly damaging |
Het |
| Pon2 |
C |
T |
6: 5,265,480 (GRCm39) |
|
probably null |
Het |
| Pop4 |
G |
A |
7: 37,962,649 (GRCm39) |
A205V |
possibly damaging |
Het |
| Ppp6r3 |
T |
A |
19: 3,521,030 (GRCm39) |
E590D |
probably damaging |
Het |
| Ptpn6 |
T |
A |
6: 124,709,309 (GRCm39) |
I96F |
probably damaging |
Het |
| Rfk |
T |
A |
19: 17,372,590 (GRCm39) |
N37K |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,049,527 (GRCm39) |
Q7535K |
probably damaging |
Het |
| Tcf15 |
A |
T |
2: 151,986,023 (GRCm39) |
I160F |
probably damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmem160 |
T |
C |
7: 16,186,889 (GRCm39) |
M1T |
probably null |
Het |
| Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
| Trnt1 |
T |
C |
6: 106,751,443 (GRCm39) |
F140S |
probably damaging |
Het |
| Ttf1 |
T |
C |
2: 28,969,492 (GRCm39) |
|
probably null |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,210 (GRCm39) |
I32F |
probably benign |
Het |
| Vwc2l |
T |
A |
1: 70,768,063 (GRCm39) |
N42K |
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 |
|
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 |
|
R8964:Axin1
|
UTSW |
17 |
26,361,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTGTGTCATGAAGCAGC -3'
(R):5'- GAAAATGGACACCCTGTGCC -3'
Sequencing Primer
(F):5'- GCAGATAGATCCTGCCATGTTTGAC -3'
(R):5'- GAACTCACCTGAGCTCTCTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation