Incidental Mutation 'IGL01486:Alx3'
ID 88742
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alx3
Ensembl Gene ENSMUSG00000014603
Gene Name aristaless-like homeobox 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01486
Quality Score
Status
Chromosome 3
Chromosomal Location 107502347-107513092 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 107512139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 259 (C259F)
Ref Sequence ENSEMBL: ENSMUSP00000014747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014747]
AlphaFold O70137
Predicted Effect probably damaging
Transcript: ENSMUST00000014747
AA Change: C259F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000014747
Gene: ENSMUSG00000014603
AA Change: C259F

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
low complexity region 32 48 N/A INTRINSIC
low complexity region 90 102 N/A INTRINSIC
HOX 153 215 1.06e-25 SMART
low complexity region 248 258 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to Group 1 of aristaless-like genes, which are characterized by the presence of an aristaless domain and a conserved paired-like homeodomain. The encoded protein acts as a transcriptional regulator. The protein plays a role in the development of craniofacial and appendicular skeleton and may have a role in pancreatic function. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous mutation of this gene results in defects in glucose metabolism. Mice homozygous for a reporter allele exhibit partial preweaning lethality, open neural tube and craniofacial defects in some mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ampd3 G T 7: 110,409,123 (GRCm39) probably benign Het
Atm T C 9: 53,421,513 (GRCm39) I733V probably benign Het
Chrd A G 16: 20,552,890 (GRCm39) probably null Het
Ckm G A 7: 19,155,156 (GRCm39) G262S probably damaging Het
Fbn1 A G 2: 125,231,898 (GRCm39) V412A probably benign Het
Fbxw22 G T 9: 109,207,941 (GRCm39) S443R probably damaging Het
Hdgfl2 G T 17: 56,405,733 (GRCm39) A481S possibly damaging Het
Hmcn2 G A 2: 31,226,633 (GRCm39) V203M probably damaging Het
Kdelr3 T A 15: 79,407,048 (GRCm39) V43D probably damaging Het
Klk1b8 A G 7: 43,453,113 (GRCm39) K235E probably benign Het
Macir A T 1: 97,573,731 (GRCm39) S111R probably damaging Het
Mapk1 A T 16: 16,836,144 (GRCm39) probably benign Het
Nfic T C 10: 81,243,478 (GRCm39) probably null Het
Pkd1l2 T C 8: 117,786,331 (GRCm39) T625A probably benign Het
Psd2 A G 18: 36,113,388 (GRCm39) S287G probably benign Het
Smap2 A T 4: 120,830,395 (GRCm39) F247I probably damaging Het
Spata4 T C 8: 55,055,341 (GRCm39) probably benign Het
Tff2 T G 17: 31,361,316 (GRCm39) E79A probably benign Het
Thsd7a C T 6: 12,471,079 (GRCm39) C513Y probably damaging Het
Tshz1 A G 18: 84,031,634 (GRCm39) S925P possibly damaging Het
Xrcc4 C A 13: 90,210,151 (GRCm39) E98* probably null Het
Ypel3 A G 7: 126,377,033 (GRCm39) T38A probably damaging Het
Zfhx2 C T 14: 55,304,547 (GRCm39) G1146R probably damaging Het
Zfp446 T A 7: 12,713,307 (GRCm39) probably null Het
Other mutations in Alx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02537:Alx3 APN 3 107,512,175 (GRCm39) missense possibly damaging 0.76
R0003:Alx3 UTSW 3 107,512,292 (GRCm39) missense probably damaging 1.00
R1142:Alx3 UTSW 3 107,507,980 (GRCm39) missense possibly damaging 0.95
R3791:Alx3 UTSW 3 107,508,022 (GRCm39) missense probably damaging 1.00
R4322:Alx3 UTSW 3 107,502,691 (GRCm39) missense probably benign
R4769:Alx3 UTSW 3 107,508,007 (GRCm39) missense probably damaging 1.00
R4868:Alx3 UTSW 3 107,507,943 (GRCm39) missense possibly damaging 0.58
R5072:Alx3 UTSW 3 107,512,109 (GRCm39) missense possibly damaging 0.85
R5200:Alx3 UTSW 3 107,507,980 (GRCm39) missense possibly damaging 0.95
R5640:Alx3 UTSW 3 107,507,977 (GRCm39) missense probably damaging 1.00
R5801:Alx3 UTSW 3 107,512,257 (GRCm39) nonsense probably null
R7538:Alx3 UTSW 3 107,511,680 (GRCm39) missense probably damaging 1.00
R8002:Alx3 UTSW 3 107,508,055 (GRCm39) nonsense probably null
R8112:Alx3 UTSW 3 107,512,300 (GRCm39) nonsense probably null
R8733:Alx3 UTSW 3 107,512,135 (GRCm39) missense probably damaging 1.00
R8885:Alx3 UTSW 3 107,508,010 (GRCm39) missense probably damaging 1.00
R8911:Alx3 UTSW 3 107,511,603 (GRCm39) missense probably damaging 1.00
X0066:Alx3 UTSW 3 107,512,395 (GRCm39) makesense probably null
Z1177:Alx3 UTSW 3 107,512,150 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18