Incidental Mutation 'IGL01310:Amer1'
ID 73656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amer1
Ensembl Gene ENSMUSG00000050332
Gene Name APC membrane recruitment 1
Synonyms 2810002O09Rik, Amer1, Fam123b, Wtx
Accession Numbers
Essential gene? Not available question?
Stock # IGL01310
Quality Score
Status
Chromosome X
Chromosomal Location 94463919-94488446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94470716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 467 (N467K)
Ref Sequence ENSEMBL: ENSMUSP00000109502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084535]
AlphaFold Q7TS75
Predicted Effect probably benign
Transcript: ENSMUST00000084535
AA Change: N467K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109502
Gene: ENSMUSG00000050332
AA Change: N467K

DomainStartEndE-ValueType
Pfam:WTX 89 556 3.5e-128 PFAM
low complexity region 591 615 N/A INTRINSIC
low complexity region 754 766 N/A INTRINSIC
low complexity region 789 799 N/A INTRINSIC
low complexity region 904 913 N/A INTRINSIC
low complexity region 934 942 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
PHENOTYPE: Male mice hemizygous for a null mutation display neonatal lethality with cardiac overgrowth, bone overgrowth, bilateral or unilateral renal agenesis coupled with renal overgrowth, adipocyte and spleen hypoplasia, and altered mesenchymal progenitor cell fate specification. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930431F12Rik A T 5: 45,125,156 (GRCm39) noncoding transcript Het
Abca12 A T 1: 71,323,315 (GRCm39) I1589N probably benign Het
Abca8a T G 11: 109,950,801 (GRCm39) D888A probably benign Het
Adam5 C T 8: 25,232,150 (GRCm39) probably benign Het
Atp6v0a2 A G 5: 124,783,968 (GRCm39) D272G probably damaging Het
Cacna1b A T 2: 24,575,794 (GRCm39) N751K probably damaging Het
Cfi T A 3: 129,652,080 (GRCm39) N250K probably damaging Het
Cndp2 G T 18: 84,689,002 (GRCm39) P260Q possibly damaging Het
Cnnm3 A G 1: 36,551,956 (GRCm39) D322G probably benign Het
Crybg1 A T 10: 43,851,054 (GRCm39) S1606T possibly damaging Het
Crybg1 A G 10: 43,879,596 (GRCm39) S531P probably damaging Het
Espnl A T 1: 91,268,333 (GRCm39) K320* probably null Het
Glt1d1 A G 5: 127,709,384 (GRCm39) T13A possibly damaging Het
Gpam C T 19: 55,066,764 (GRCm39) A584T possibly damaging Het
Gpr19 A G 6: 134,846,705 (GRCm39) I289T probably damaging Het
Grm8 T C 6: 27,363,800 (GRCm39) I572V probably damaging Het
Gtpbp4 A T 13: 9,027,308 (GRCm39) N502K probably benign Het
Herpud2 T C 9: 25,062,247 (GRCm39) M6V probably benign Het
Igdcc3 T C 9: 65,085,724 (GRCm39) V263A probably damaging Het
Il33 G A 19: 29,930,156 (GRCm39) A65T probably benign Het
Itga9 T A 9: 118,598,227 (GRCm39) M1K probably null Het
Izumo3 T C 4: 92,035,217 (GRCm39) probably benign Het
Kdr G A 5: 76,110,261 (GRCm39) P909S probably damaging Het
Kirrel1 C T 3: 86,997,182 (GRCm39) E262K probably benign Het
Krt25 T A 11: 99,208,996 (GRCm39) Q278L probably benign Het
Lgi2 G T 5: 52,711,807 (GRCm39) P195Q probably benign Het
Lpcat3 T C 6: 124,676,301 (GRCm39) F120S possibly damaging Het
Nalcn C T 14: 123,554,661 (GRCm39) R910Q probably benign Het
Nrxn1 A G 17: 90,366,902 (GRCm39) probably null Het
Nuf2 A T 1: 169,326,431 (GRCm39) V440E probably benign Het
Or10ag60 T A 2: 87,437,852 (GRCm39) I40N possibly damaging Het
Or4f14 C T 2: 111,742,652 (GRCm39) V208M probably benign Het
Or51ah3 C T 7: 103,210,008 (GRCm39) S108F probably benign Het
Or6c205 T C 10: 129,086,865 (GRCm39) I154T possibly damaging Het
Pfpl A G 19: 12,405,974 (GRCm39) D75G probably damaging Het
Pgm5 A G 19: 24,812,130 (GRCm39) V134A possibly damaging Het
Prkch A G 12: 73,805,787 (GRCm39) I521V possibly damaging Het
Rps6kc1 T A 1: 190,515,822 (GRCm39) E968V probably benign Het
Slc25a30 T C 14: 76,007,037 (GRCm39) Y153C probably damaging Het
Smtnl2 T A 11: 72,292,171 (GRCm39) probably null Het
Spmip4 C A 6: 50,551,175 (GRCm39) V425L probably benign Het
Tbc1d14 T A 5: 36,700,544 (GRCm39) K275* probably null Het
Tnc T C 4: 63,931,314 (GRCm39) T799A probably benign Het
Trdn A T 10: 33,181,094 (GRCm39) probably benign Het
Ttn T C 2: 76,706,879 (GRCm39) probably benign Het
Uaca T C 9: 60,779,507 (GRCm39) M1296T probably benign Het
Ubash3a A C 17: 31,434,116 (GRCm39) I154L probably benign Het
Vmn2r4 T A 3: 64,317,200 (GRCm39) probably null Het
Xpc T C 6: 91,467,089 (GRCm39) K915E probably benign Het
Zfp318 T C 17: 46,724,153 (GRCm39) I2052T possibly damaging Het
Other mutations in Amer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02514:Amer1 APN X 94,470,117 (GRCm39) missense possibly damaging 0.82
R6011:Amer1 UTSW X 94,470,889 (GRCm39) small insertion probably benign
R9532:Amer1 UTSW X 94,470,889 (GRCm39) small deletion probably benign
Posted On 2013-10-07