Incidental Mutation 'R5200:Alx3'
ID 400661
Institutional Source Beutler Lab
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 # R5200 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 107502347-107513092 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107507980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 163 (F163S)
Ref Sequence ENSEMBL: ENSMUSP00000014747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014747]
AlphaFold O70137
Predicted Effect possibly damaging
Transcript: ENSMUST00000014747
AA Change: F163S

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000014747
Gene: ENSMUSG00000014603
AA Change: F163S

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T C 5: 4,010,734 (GRCm39) V497A probably benign Het
Ankmy1 T C 1: 92,798,014 (GRCm39) R997G probably benign Het
Arfgef2 T C 2: 166,702,604 (GRCm39) S848P probably benign Het
Atp11b A G 3: 35,891,156 (GRCm39) I810V probably benign Het
C1ql4 T G 15: 98,982,718 (GRCm39) I212L probably benign Het
Cep63 T C 9: 102,475,387 (GRCm39) Y443C probably benign Het
Cfap45 C T 1: 172,372,696 (GRCm39) Q464* probably null Het
Clcn3 T C 8: 61,376,039 (GRCm39) K618R probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnaaf4 T C 9: 72,879,713 (GRCm39) S418P probably damaging Het
H2-M10.2 T G 17: 36,595,641 (GRCm39) R216S probably benign Het
Hook1 A G 4: 95,881,367 (GRCm39) D113G probably damaging Het
Ift122 A G 6: 115,897,340 (GRCm39) E914G probably damaging Het
Insr A G 8: 3,248,059 (GRCm39) probably null Het
Itpr2 A T 6: 146,045,605 (GRCm39) probably null Het
Myo6 C T 9: 80,183,656 (GRCm39) Q684* probably null Het
Nrde2 T A 12: 100,096,756 (GRCm39) I1015F possibly damaging Het
Or12e9 T A 2: 87,202,446 (GRCm39) V190E probably damaging Het
Or2d4 G A 7: 106,544,187 (GRCm39) T7I possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pappa A T 4: 65,074,076 (GRCm39) N210I probably damaging Het
Pax4 G A 6: 28,445,138 (GRCm39) P179L probably damaging Het
Pcx G A 19: 4,668,532 (GRCm39) D656N probably damaging Het
Pms1 T A 1: 53,245,916 (GRCm39) H541L probably benign Het
Pten C T 19: 32,777,291 (GRCm39) P95L probably damaging Het
Rsrc2 G A 5: 123,877,562 (GRCm39) R140* probably null Het
Shc3 T C 13: 51,670,601 (GRCm39) M49V probably damaging Het
Snap91 C G 9: 86,697,497 (GRCm39) K288N probably damaging Het
Spag17 C T 3: 99,970,787 (GRCm39) Q1324* probably null Het
Tasor A G 14: 27,151,183 (GRCm39) E53G probably benign Het
Tfr2 A G 5: 137,569,242 (GRCm39) probably benign Het
Tgfbrap1 A T 1: 43,114,803 (GRCm39) I99K probably damaging Het
Tmem38a T A 8: 73,333,878 (GRCm39) V119E probably damaging Het
Tmtc4 T G 14: 123,182,969 (GRCm39) D243A probably benign Het
Tnc A T 4: 63,889,515 (GRCm39) S1755T probably damaging Het
Trim67 T C 8: 125,551,589 (GRCm39) S590P probably damaging Het
Ttn T A 2: 76,590,287 (GRCm39) T12814S probably damaging Het
Uspl1 T A 5: 149,150,923 (GRCm39) S708T probably benign Het
Vmn2r69 A T 7: 85,055,717 (GRCm39) F807Y probably damaging Het
Vmn2r97 C T 17: 19,148,615 (GRCm39) P170L probably damaging Het
Zfp612 C T 8: 110,816,532 (GRCm39) Q580* probably null Het
Other mutations in Alx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Alx3 APN 3 107,512,139 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTTTCCATTGCAGCCGAGG -3'
(R):5'- AGCTCTTCCATAATCTGGTCCATG -3'

Sequencing Primer
(F):5'- TTCCATTGCAGCCGAGGAGAAG -3'
(R):5'- CCATAATCTGGTCCATGGGCTGAG -3'
Posted On 2016-07-06