Incidental Mutation 'IGL02331:Alx1'
ID 288697
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 # IGL02331
Quality Score
Status
Chromosome 10
Chromosomal Location 102843708-102865501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102858160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 180 (F180L)
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: F180L

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000042512
Gene: ENSMUSG00000036602
AA Change: F180L

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: F180L

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129230
Gene: ENSMUSG00000036602
AA Change: F180L

DomainStartEndE-ValueType
HOX 132 194 1.84e-25 SMART
Pfam:OAR 302 320 2.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217946
AA Change: F180L

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000218282
AA Change: F180L

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218508
Predicted Effect possibly damaging
Transcript: ENSMUST00000218681
AA Change: F180L

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000219194
AA Change: F180L

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T G 11: 105,862,170 (GRCm39) F241L possibly damaging Het
Apaf1 T C 10: 90,895,481 (GRCm39) D428G probably damaging Het
Arap2 G T 5: 62,807,025 (GRCm39) probably benign Het
Arnt2 A G 7: 83,914,832 (GRCm39) Y511H probably damaging Het
Bmp7 A T 2: 172,714,724 (GRCm39) C362S probably damaging Het
Bpifb9a A G 2: 154,104,307 (GRCm39) D250G possibly damaging Het
Ccnk T A 12: 108,155,343 (GRCm39) L100H probably damaging Het
Cdh23 T C 10: 60,301,322 (GRCm39) I451V probably damaging Het
Cemip A G 7: 83,613,192 (GRCm39) probably null Het
Cep78 T A 19: 15,951,779 (GRCm39) Q342L probably benign Het
Clca3b T C 3: 144,547,167 (GRCm39) probably benign Het
Cpb2 A G 14: 75,520,844 (GRCm39) R420G possibly damaging Het
Cyp2c50 A T 19: 40,079,387 (GRCm39) probably null Het
Dbnl T C 11: 5,749,997 (GRCm39) *433R probably null Het
Elovl5 T C 9: 77,887,181 (GRCm39) S191P possibly damaging Het
Fbxo42 A G 4: 140,895,157 (GRCm39) E40G probably benign Het
Fpgt T C 3: 154,793,499 (GRCm39) D176G possibly damaging Het
Gm1110 C A 9: 26,824,583 (GRCm39) probably null Het
Grik4 A T 9: 42,453,284 (GRCm39) S700R probably damaging Het
Herc4 T C 10: 63,099,939 (GRCm39) S121P probably benign Het
Hps4 T C 5: 112,517,402 (GRCm39) V263A probably benign Het
Hsd11b1 A C 1: 192,922,924 (GRCm39) L81R probably damaging Het
Ift122 T C 6: 115,864,285 (GRCm39) M310T probably damaging Het
Isg20l2 G T 3: 87,839,394 (GRCm39) V202L probably damaging Het
Klf3 A G 5: 64,986,415 (GRCm39) K111E probably damaging Het
Kxd1 T C 8: 70,968,090 (GRCm39) T128A probably benign Het
Lgals7 A G 7: 28,565,143 (GRCm39) T94A probably benign Het
Lrp5 T C 19: 3,641,816 (GRCm39) H1382R possibly damaging Het
Muc6 T C 7: 141,226,726 (GRCm39) T1434A possibly damaging Het
Mybl2 C T 2: 162,916,605 (GRCm39) R419W probably damaging Het
Myo5b A T 18: 74,771,111 (GRCm39) probably null Het
Myo7a A G 7: 97,702,389 (GRCm39) V2138A possibly damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Ntrk2 T C 13: 58,994,670 (GRCm39) probably null Het
Or8g21 A G 9: 38,906,402 (GRCm39) S110P probably damaging Het
Osbpl5 A G 7: 143,263,532 (GRCm39) V105A probably benign Het
Pfkp A C 13: 6,647,996 (GRCm39) F527V probably benign Het
Pilra C A 5: 137,833,917 (GRCm39) G47* probably null Het
Pkdrej C A 15: 85,705,528 (GRCm39) C136F probably damaging Het
Ppp1r16a T A 15: 76,575,200 (GRCm39) M36K probably benign Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rnf40 T C 7: 127,188,999 (GRCm39) V124A probably benign Het
St7l A G 3: 104,833,904 (GRCm39) T522A probably damaging Het
Stox2 G A 8: 47,644,979 (GRCm39) P891L probably damaging Het
Trbv12-1 T C 6: 41,090,972 (GRCm39) S115P probably damaging Het
Trpm1 A G 7: 63,884,800 (GRCm39) D827G probably benign Het
Ttll6 T A 11: 96,026,573 (GRCm39) M119K probably damaging Het
Ufl1 C A 4: 25,251,971 (GRCm39) C568F probably damaging Het
Usp29 A T 7: 6,965,155 (GRCm39) I333F probably benign Het
Vta1 G A 10: 14,581,138 (GRCm39) T23M probably damaging Het
Zswim8 A G 14: 20,773,325 (GRCm39) D1771G probably damaging Het
Other mutations in Alx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02508:Alx1 APN 10 102,858,054 (GRCm39) missense probably damaging 0.99
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