Incidental Mutation 'IGL02537:Alx3'
ID297542
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alx3
Ensembl Gene ENSMUSG00000014603
Gene Namearistaless-like homeobox 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02537
Quality Score
Status
Chromosome3
Chromosomal Location107595031-107605776 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 107604859 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 271 (M271K)
Ref Sequence ENSEMBL: ENSMUSP00000014747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014747]
Predicted Effect possibly damaging
Transcript: ENSMUST00000014747
AA Change: M271K

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000014747
Gene: ENSMUSG00000014603
AA Change: M271K

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Ank2 T C 3: 126,955,916 E488G probably damaging Het
Arsk T A 13: 76,074,906 R191* probably null Het
B230217C12Rik T C 11: 97,842,185 S111P possibly damaging Het
Bckdhb A G 9: 83,989,141 I158V probably benign Het
Bub1 G A 2: 127,801,347 Q1026* probably null Het
C8a A G 4: 104,845,951 M303T probably damaging Het
Cftr A G 6: 18,274,597 T905A probably benign Het
Col14a1 A T 15: 55,344,914 K132* probably null Het
Depdc5 T A 5: 32,967,787 L531Q probably damaging Het
Dzip1 G A 14: 118,909,576 probably benign Het
F5 C A 1: 164,193,117 L1054I probably benign Het
Gm4353 A T 7: 116,083,752 I198N probably damaging Het
Il1a T A 2: 129,309,076 E9V probably damaging Het
Kif15 A G 9: 122,993,849 T432A probably benign Het
Kndc1 T C 7: 139,910,410 V276A probably benign Het
Mrvi1 A T 7: 110,871,473 Y678* probably null Het
Narfl C T 17: 25,778,942 probably benign Het
Olfr1247 A C 2: 89,609,395 S236A possibly damaging Het
Olfr170 A T 16: 19,605,799 Y290N probably damaging Het
Olfr430 A T 1: 174,069,454 D52V possibly damaging Het
Palld T C 8: 61,684,934 S596G probably benign Het
Pdc A T 1: 150,333,009 D81V possibly damaging Het
Plcd4 A G 1: 74,556,050 K361R possibly damaging Het
Plekhm1 T A 11: 103,397,192 D43V probably damaging Het
Prpf31 G T 7: 3,638,751 G356C probably damaging Het
Rbpj T A 5: 53,642,143 I100K probably damaging Het
Rufy3 A G 5: 88,640,662 probably benign Het
Slc40a1 C T 1: 45,911,393 V300I probably benign Het
Slc6a12 A T 6: 121,360,514 I386F probably benign Het
Strip1 C T 3: 107,616,894 R569H possibly damaging Het
Tep1 A T 14: 50,836,113 D1996E probably damaging Het
Tmem68 A G 4: 3,569,649 S14P possibly damaging Het
Trav12-1 C A 14: 53,538,523 C44* probably null Het
Uba1 G A X: 20,678,663 R693H possibly damaging Het
Ugt2b38 T C 5: 87,421,731 T246A possibly damaging Het
Usp24 A G 4: 106,392,367 Y1427C probably damaging Het
Vmn2r78 A T 7: 86,954,288 Y558F probably damaging Het
Wdr54 A G 6: 83,153,391 W221R possibly damaging Het
Xpo4 T C 14: 57,593,833 T773A probably benign Het
Zfp518a T A 19: 40,915,430 S1268T probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Znfx1 T C 2: 167,056,167 D279G probably benign Het
Other mutations in Alx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Alx3 APN 3 107604823 missense probably damaging 1.00
R0003:Alx3 UTSW 3 107604976 missense probably damaging 1.00
R1142:Alx3 UTSW 3 107600664 missense possibly damaging 0.95
R3791:Alx3 UTSW 3 107600706 missense probably damaging 1.00
R4322:Alx3 UTSW 3 107595375 missense probably benign
R4769:Alx3 UTSW 3 107600691 missense probably damaging 1.00
R4868:Alx3 UTSW 3 107600627 missense possibly damaging 0.58
R5072:Alx3 UTSW 3 107604793 missense possibly damaging 0.85
R5200:Alx3 UTSW 3 107600664 missense possibly damaging 0.95
R5640:Alx3 UTSW 3 107600661 missense probably damaging 1.00
R5801:Alx3 UTSW 3 107604941 nonsense probably null
R7538:Alx3 UTSW 3 107604364 missense probably damaging 1.00
R8002:Alx3 UTSW 3 107600739 nonsense probably null
R8112:Alx3 UTSW 3 107604984 nonsense probably null
X0066:Alx3 UTSW 3 107605079 makesense probably null
Z1177:Alx3 UTSW 3 107604834 missense probably damaging 1.00
Posted On2015-04-16