Incidental Mutation 'R1950:Axin1'
ID 217250
Institutional Source Beutler Lab
Gene Symbol Axin1
Ensembl Gene ENSMUSG00000024182
Gene Name axin 1
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1950 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 26357662-26414785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 26412938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 780 (G780R)
Ref Sequence ENSEMBL: ENSMUSP00000073974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039113] [ENSMUST00000074370] [ENSMUST00000118904] [ENSMUST00000120333] [ENSMUST00000163421] [ENSMUST00000176961]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039113
SMART Domains Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Thioredoxin 46 153 1.5e-26 PFAM
Pfam:Thioredoxin_6 182 369 3.2e-37 PFAM
Pfam:Thioredoxin 392 497 2.4e-27 PFAM
low complexity region 501 515 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000074370
AA Change: G780R

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000073974
Gene: ENSMUSG00000024182
AA Change: G780R

DomainStartEndE-ValueType
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: G744R

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113756
Gene: ENSMUSG00000024182
AA Change: G744R

DomainStartEndE-ValueType
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: ENSMUST00000120333
SMART Domains Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Thioredoxin 46 153 2.6e-27 PFAM
Pfam:Thioredoxin_6 181 366 2e-37 PFAM
Pfam:Thioredoxin 389 494 7.2e-28 PFAM
low complexity region 498 512 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142410
SMART Domains Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184

DomainStartEndE-ValueType
Pfam:Thioredoxin 38 145 3.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148134
SMART Domains Protein: ENSMUSP00000116340
Gene: ENSMUSG00000024184

DomainStartEndE-ValueType
Pfam:Thioredoxin 19 124 2e-28 PFAM
low complexity region 128 142 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163421
AA Change: G744R

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132000
Gene: ENSMUSG00000024182
AA Change: G744R

DomainStartEndE-ValueType
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: ENSMUST00000176961
SMART Domains Protein: ENSMUSP00000135717
Gene: ENSMUSG00000073433

DomainStartEndE-ValueType
Pfam:Rho_GDI 14 222 1.9e-83 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,010,677 (GRCm39) N478S probably damaging Het
Als2 T A 1: 59,224,760 (GRCm39) probably null Het
Ankfy1 A G 11: 72,651,155 (GRCm39) Y1035C probably damaging Het
Ankrd11 T C 8: 123,616,608 (GRCm39) T2394A probably damaging Het
Carm1 A T 9: 21,485,812 (GRCm39) T127S probably benign Het
Ccdc73 T C 2: 104,757,280 (GRCm39) I81T probably benign Het
Cdh12 T C 15: 21,237,965 (GRCm39) Y67H probably damaging Het
Cfap65 C A 1: 74,946,819 (GRCm39) G1297V probably damaging Het
Cfap74 T C 4: 155,511,887 (GRCm39) probably null Het
Chit1 A G 1: 134,078,968 (GRCm39) Y426C probably damaging Het
Clpp A G 17: 57,303,039 (GRCm39) probably benign Het
Clrn3 T G 7: 135,115,813 (GRCm39) Y179S possibly damaging Het
Cntn5 A C 9: 9,781,774 (GRCm39) M635R probably damaging Het
Col12a1 A T 9: 79,537,831 (GRCm39) S2546T possibly damaging Het
Ctla2b T C 13: 61,043,863 (GRCm39) N102S possibly damaging Het
Cwf19l2 A T 9: 3,418,674 (GRCm39) I154F probably benign Het
Dffa C A 4: 149,188,839 (GRCm39) S44R probably benign Het
Ehbp1 T A 11: 22,009,228 (GRCm39) K930M probably damaging Het
Erc2 T A 14: 27,634,857 (GRCm39) S473T probably damaging Het
Fbxw24 A T 9: 109,434,481 (GRCm39) L373H probably benign Het
Fer1l4 T C 2: 155,890,194 (GRCm39) I244V probably damaging Het
Fgfr2 G A 7: 129,800,211 (GRCm39) T245M probably damaging Het
Garin1b C T 6: 29,335,815 (GRCm39) probably null Het
Gbp9 T A 5: 105,229,112 (GRCm39) M512L probably benign Het
Glg1 T A 8: 111,892,271 (GRCm39) K251I possibly damaging Het
Gm10553 A G 1: 85,078,141 (GRCm39) D86G possibly damaging Het
Gm5622 T C 14: 51,893,229 (GRCm39) V52A probably benign Het
Gucy1b1 A G 3: 81,952,716 (GRCm39) V239A probably benign Het
Gzma A G 13: 113,230,463 (GRCm39) L246P probably damaging Het
Hibadh C A 6: 52,533,448 (GRCm39) A223S probably benign Het
Hydin C A 8: 111,336,619 (GRCm39) T5132N possibly damaging Het
Insrr A G 3: 87,721,820 (GRCm39) N1198S probably damaging Het
Ivl T C 3: 92,479,420 (GRCm39) E215G possibly damaging Het
Jmjd1c A G 10: 67,075,701 (GRCm39) D2037G possibly damaging Het
Kcna3 G A 3: 106,944,988 (GRCm39) C417Y probably damaging Het
Klra2 T C 6: 131,207,078 (GRCm39) N177S probably benign Het
Llgl2 T C 11: 115,741,892 (GRCm39) S645P probably damaging Het
Lrrc15 T C 16: 30,092,649 (GRCm39) E230G probably benign Het
Magel2 C A 7: 62,028,163 (GRCm39) Q356K possibly damaging Het
Mcm6 A G 1: 128,273,726 (GRCm39) V368A probably benign Het
Myh8 G A 11: 67,169,830 (GRCm39) V50M possibly damaging Het
Myrf A T 19: 10,195,554 (GRCm39) F419I possibly damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Or10ak16 G A 4: 118,750,537 (GRCm39) V86M probably benign Het
Or52i2 A G 7: 102,319,684 (GRCm39) M186V probably benign Het
Otud4 G A 8: 80,372,961 (GRCm39) R93H probably damaging Het
Pank4 T A 4: 155,056,977 (GRCm39) M390K probably benign Het
Pecam1 A G 11: 106,576,029 (GRCm39) V401A probably damaging Het
Prdm6 C A 18: 53,669,796 (GRCm39) T138K possibly damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Prpf8 A G 11: 75,387,337 (GRCm39) E1206G possibly damaging Het
Prr30 A T 14: 101,435,377 (GRCm39) I395N probably benign Het
Rab27a G A 9: 72,982,751 (GRCm39) G19R probably damaging Het
Ramacl A G 13: 67,055,269 (GRCm39) probably benign Het
Rrp12 A G 19: 41,881,029 (GRCm39) V134A probably damaging Het
Scly A G 1: 91,233,116 (GRCm39) T76A probably benign Het
Scube3 T C 17: 28,383,274 (GRCm39) S439P possibly damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sipa1l1 T C 12: 82,388,233 (GRCm39) F153S probably damaging Het
Slc25a30 T G 14: 76,007,007 (GRCm39) K163T possibly damaging Het
Slc26a8 T A 17: 28,863,614 (GRCm39) D715V probably benign Het
Smr2 AT ATT 5: 88,256,683 (GRCm39) probably null Het
Smr2 C CT 5: 88,256,685 (GRCm39) probably null Het
Sp6 T G 11: 96,912,940 (GRCm39) S218A probably benign Het
Spata21 T C 4: 140,838,716 (GRCm39) V589A probably damaging Het
Sycp2 T C 2: 178,044,593 (GRCm39) I71V probably benign Het
Syne2 G T 12: 75,999,644 (GRCm39) G2347C probably benign Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Thbs4 A T 13: 92,906,079 (GRCm39) N387K probably damaging Het
Tmem184a T C 5: 139,793,381 (GRCm39) D216G probably damaging Het
Tprg1 T A 16: 25,136,098 (GRCm39) S30T possibly damaging Het
Trip12 A T 1: 84,738,522 (GRCm39) W778R probably damaging Het
Ttpa T C 4: 20,008,633 (GRCm39) L65P probably damaging Het
Ush2a A T 1: 188,487,382 (GRCm39) N3050I probably damaging Het
Xpot T C 10: 121,455,053 (GRCm39) I30V probably benign Het
Zfp944 A G 17: 22,558,681 (GRCm39) S189P probably benign Het
Zftraf1 A G 15: 76,543,417 (GRCm39) probably null Het
Other mutations in Axin1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GACAGGTACCTAGACTTTGGGTAG -3'
(R):5'- TGGGACAGAAAGCTTTTCCC -3'

Sequencing Primer
(F):5'- TAGGTGGGTGGCAGGACC -3'
(R):5'- GGGACAGAAAGCTTTTCCCTTCTAAG -3'
Posted On 2014-08-01