Incidental Mutation 'R4322:Alx3'
ID 323860
Institutional Source Beutler Lab
Gene Symbol Alx3
Ensembl Gene ENSMUSG00000014603
Gene Name aristaless-like homeobox 3
Synonyms
MMRRC Submission 041093-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4322 (G1)
Quality Score 202
Status Validated
Chromosome 3
Chromosomal Location 107502347-107513092 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107502691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 67 (P67L)
Ref Sequence ENSEMBL: ENSMUSP00000014747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014747]
AlphaFold O70137
Predicted Effect probably benign
Transcript: ENSMUST00000014747
AA Change: P67L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000014747
Gene: ENSMUSG00000014603
AA Change: P67L

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
Meta Mutation Damage Score 0.0686 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 94% (48/51)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 G A 4: 154,751,701 (GRCm39) A145V probably damaging Het
Allc C A 12: 28,604,023 (GRCm39) L353F probably benign Het
Arhgef10l C A 4: 140,270,037 (GRCm39) G882V probably benign Het
Asb13 G T 13: 3,695,012 (GRCm39) R160L possibly damaging Het
Atxn7l2 A T 3: 108,113,148 (GRCm39) D218E probably damaging Het
Bdp1 T A 13: 100,228,731 (GRCm39) N299I probably damaging Het
Ccdc80 G T 16: 44,915,951 (GRCm39) V236L probably damaging Het
Cdhr2 A T 13: 54,881,534 (GRCm39) I1085L probably benign Het
Csn2 C T 5: 87,845,886 (GRCm39) probably null Het
Dnajb14 G A 3: 137,591,060 (GRCm39) G54S probably damaging Het
Fyb1 T A 15: 6,610,300 (GRCm39) L291Q possibly damaging Het
Ggcx A G 6: 72,405,803 (GRCm39) S545G probably benign Het
Gm12250 G A 11: 58,079,126 (GRCm39) noncoding transcript Het
Hipk3 C A 2: 104,276,916 (GRCm39) V388L probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Kng1 A C 16: 22,898,270 (GRCm39) M557L probably benign Het
Lilrb4a T C 10: 51,367,707 (GRCm39) F83S probably damaging Het
Lmcd1 A G 6: 112,292,724 (GRCm39) E192G possibly damaging Het
Lrp2 C A 2: 69,256,335 (GRCm39) E4602* probably null Het
Mc4r T C 18: 66,992,121 (GRCm39) R331G probably benign Het
Mybpc3 A G 2: 90,954,306 (GRCm39) D393G possibly damaging Het
Or2y1f G A 11: 49,184,503 (GRCm39) M118I probably damaging Het
Or4c10b A G 2: 89,712,078 (GRCm39) K303E probably benign Het
Or5p69 C T 7: 107,967,555 (GRCm39) P286L probably damaging Het
Orc1 G A 4: 108,445,973 (GRCm39) M30I probably benign Het
Pira13 A G 7: 3,825,754 (GRCm39) S372P possibly damaging Het
Pot1a T C 6: 25,745,929 (GRCm39) T591A probably benign Het
Rnf125 G A 18: 21,110,817 (GRCm39) R25K probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sh3rf2 A T 18: 42,244,464 (GRCm39) H310L probably damaging Het
Shld2 G T 14: 33,981,632 (GRCm39) T502K probably damaging Het
Srgap1 T C 10: 121,705,711 (GRCm39) K238E probably damaging Het
Ssc5d C T 7: 4,931,449 (GRCm39) R219C probably damaging Het
Them5 C A 3: 94,253,463 (GRCm39) H158N probably damaging Het
Vmn1r203 A T 13: 22,708,408 (GRCm39) N63I probably damaging Het
Vps41 T A 13: 19,007,960 (GRCm39) F264L probably damaging Het
Vtn A T 11: 78,390,916 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CCAGCATTAAGTCAGAGGCG -3'
(R):5'- GCGAGACGTACCCAAAGTTAAG -3'

Sequencing Primer
(F):5'- TCCCCCTTGGCTCACAGG -3'
(R):5'- CGTACCCAAAGTTAAGAAGCAAG -3'
Posted On 2015-06-24