Incidental Mutation 'IGL02508:Alx1'
ID 296461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alx1
Ensembl Gene ENSMUSG00000036602
Gene Name ALX homeobox 1
Synonyms Cart1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02508
Quality Score
Status
Chromosome 10
Chromosomal Location 102843708-102865501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102858054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 215 (T215M)
Ref Sequence ENSEMBL: ENSMUSP00000151728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040859] [ENSMUST00000167156] [ENSMUST00000217946] [ENSMUST00000218282] [ENSMUST00000218681] [ENSMUST00000219194]
AlphaFold Q8C8B0
Predicted Effect probably benign
Transcript: ENSMUST00000040859
AA Change: T215M

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000042512
Gene: ENSMUSG00000036602
AA Change: T215M

DomainStartEndE-ValueType
HOX 132 194 1.84e-25 SMART
Pfam:OAR 301 321 7.3e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164226
Predicted Effect probably benign
Transcript: ENSMUST00000167156
AA Change: T215M

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129230
Gene: ENSMUSG00000036602
AA Change: T215M

DomainStartEndE-ValueType
HOX 132 194 1.84e-25 SMART
Pfam:OAR 302 320 2.3e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000217946
AA Change: T215M

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000218282
AA Change: T215M

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218508
Predicted Effect probably damaging
Transcript: ENSMUST00000218681
AA Change: T215M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000219194
AA Change: T215M

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit perinatal lethality with acrania and meroanencephaly, but the neural tube closure defect can be ameliorated with prenatal folic acid treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik T A 3: 116,870,764 (GRCm39) noncoding transcript Het
Adgrv1 A T 13: 81,583,675 (GRCm39) probably benign Het
AI429214 T G 8: 37,461,240 (GRCm39) D129E probably benign Het
Arhgap39 A G 15: 76,609,184 (GRCm39) *1079Q probably null Het
Brca2 T C 5: 150,466,773 (GRCm39) V2179A possibly damaging Het
Cdcp3 A G 7: 130,824,559 (GRCm39) E91G probably damaging Het
Celsr1 G A 15: 85,914,818 (GRCm39) Q1052* probably null Het
Chd5 A G 4: 152,447,481 (GRCm39) E510G probably damaging Het
Cntnap2 A G 6: 46,211,254 (GRCm39) D556G probably damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Cyp4a31 A T 4: 115,428,261 (GRCm39) Y319F probably damaging Het
Dcaf12 C T 4: 41,296,310 (GRCm39) probably null Het
Dcc C A 18: 71,503,773 (GRCm39) A942S probably benign Het
Dyrk1a A T 16: 94,486,042 (GRCm39) D463V probably damaging Het
Eln T A 5: 134,733,422 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,761,803 (GRCm39) probably null Het
Fndc3b T C 3: 27,512,900 (GRCm39) Y742C probably damaging Het
Furin G A 7: 80,042,269 (GRCm39) T442I probably benign Het
Gli1 T C 10: 127,172,961 (GRCm39) Q155R probably benign Het
Glra3 A G 8: 56,538,179 (GRCm39) E218G probably benign Het
Grb10 C T 11: 11,896,767 (GRCm39) V236M probably damaging Het
Grhl2 T C 15: 37,310,009 (GRCm39) probably benign Het
Hgfac A T 5: 35,204,564 (GRCm39) M579L probably damaging Het
Ifi202b A T 1: 173,802,338 (GRCm39) D165E probably benign Het
Klhl26 A T 8: 70,905,381 (GRCm39) D95E probably damaging Het
Klk12 T C 7: 43,419,113 (GRCm39) V26A probably benign Het
Lrp2 C T 2: 69,333,774 (GRCm39) G1489D probably benign Het
Lrrtm1 A T 6: 77,221,574 (GRCm39) S344C probably damaging Het
Lzts1 G A 8: 69,593,500 (GRCm39) R36* probably null Het
Mapkap1 T C 2: 34,408,681 (GRCm39) probably benign Het
Meis3 T A 7: 15,912,722 (GRCm39) probably null Het
Mtmr14 T A 6: 113,217,267 (GRCm39) C60S probably damaging Het
Nfkb1 T A 3: 135,296,579 (GRCm39) Y789F probably damaging Het
Nup54 G A 5: 92,565,398 (GRCm39) Q440* probably null Het
Ogdhl T G 14: 32,067,131 (GRCm39) M861R probably damaging Het
Or13c7b T C 4: 43,821,289 (GRCm39) E24G possibly damaging Het
Or4d10 G T 19: 12,051,251 (GRCm39) H248Q possibly damaging Het
Or4k42 C T 2: 111,320,180 (GRCm39) A108T probably damaging Het
Or52w1 A T 7: 105,017,743 (GRCm39) H61L possibly damaging Het
Or6c69b A G 10: 129,626,660 (GRCm39) V266A probably benign Het
Pde6c A G 19: 38,145,948 (GRCm39) K412R probably benign Het
Pex5l T C 3: 33,047,051 (GRCm39) probably benign Het
Pigr A T 1: 130,778,595 (GRCm39) I760L probably benign Het
Pramel28 T C 4: 143,691,590 (GRCm39) N378D probably benign Het
Prr14l G A 5: 32,988,286 (GRCm39) A403V probably benign Het
Prrt3 T C 6: 113,471,268 (GRCm39) D968G probably damaging Het
Psmc5 T C 11: 106,153,869 (GRCm39) I401T possibly damaging Het
Ralyl T A 3: 14,172,332 (GRCm39) probably benign Het
Samd9l T C 6: 3,374,798 (GRCm39) E821G probably damaging Het
Serpinb3a T A 1: 106,973,802 (GRCm39) I370F probably damaging Het
Setd1a A G 7: 127,396,870 (GRCm39) probably benign Het
Slco2a1 T A 9: 102,951,615 (GRCm39) F381L probably benign Het
Strada A G 11: 106,059,182 (GRCm39) Y199H probably benign Het
Stxbp2 T C 8: 3,682,531 (GRCm39) I40T probably damaging Het
Tbx3 T C 5: 119,816,877 (GRCm39) V358A possibly damaging Het
Tenm3 A G 8: 48,752,674 (GRCm39) L896S probably benign Het
Tmem132a A G 19: 10,835,882 (GRCm39) S883P probably damaging Het
Trio A G 15: 27,818,190 (GRCm39) I496T possibly damaging Het
Unc79 C T 12: 103,078,535 (GRCm39) R1548W probably damaging Het
Unc79 T C 12: 103,078,277 (GRCm39) probably benign Het
Vmn2r9 T C 5: 108,996,067 (GRCm39) M194V possibly damaging Het
Other mutations in Alx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02331:Alx1 APN 10 102,858,160 (GRCm39) missense possibly damaging 0.93
IGL03079:Alx1 APN 10 102,845,209 (GRCm39) missense probably damaging 1.00
R1345:Alx1 UTSW 10 102,864,353 (GRCm39) missense possibly damaging 0.86
R1370:Alx1 UTSW 10 102,864,353 (GRCm39) missense possibly damaging 0.86
R1846:Alx1 UTSW 10 102,861,165 (GRCm39) missense possibly damaging 0.88
R1912:Alx1 UTSW 10 102,861,222 (GRCm39) missense probably damaging 1.00
R4649:Alx1 UTSW 10 102,845,193 (GRCm39) missense probably damaging 0.99
R4767:Alx1 UTSW 10 102,861,047 (GRCm39) nonsense probably null
R5484:Alx1 UTSW 10 102,861,177 (GRCm39) missense probably damaging 0.99
R5979:Alx1 UTSW 10 102,858,120 (GRCm39) missense probably damaging 1.00
R6115:Alx1 UTSW 10 102,864,304 (GRCm39) missense possibly damaging 0.78
R6919:Alx1 UTSW 10 102,861,061 (GRCm39) missense probably damaging 1.00
R7781:Alx1 UTSW 10 102,845,053 (GRCm39) missense probably damaging 0.99
R8166:Alx1 UTSW 10 102,845,224 (GRCm39) missense probably damaging 1.00
R8238:Alx1 UTSW 10 102,858,076 (GRCm39) missense possibly damaging 0.80
R8275:Alx1 UTSW 10 102,864,250 (GRCm39) missense probably benign 0.04
R9219:Alx1 UTSW 10 102,858,121 (GRCm39) missense probably damaging 0.98
R9323:Alx1 UTSW 10 102,858,124 (GRCm39) nonsense probably null
R9482:Alx1 UTSW 10 102,864,335 (GRCm39) missense probably benign
R9654:Alx1 UTSW 10 102,858,093 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16