Incidental Mutation 'R0183:Amer3'
ID 23844
Institutional Source Beutler Lab
Gene Symbol Amer3
Ensembl Gene ENSMUSG00000045174
Gene Name APC membrane recruitment 3
Synonyms 9430069J07Rik, Fam123c
MMRRC Submission 038448-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R0183 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 1
Chromosomal Location 34618738-34630025 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34626838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 359 (I359K)
Ref Sequence ENSEMBL: ENSMUSP00000054748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052670]
AlphaFold Q6NS69
Predicted Effect probably damaging
Transcript: ENSMUST00000052670
AA Change: I359K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054748
Gene: ENSMUSG00000045174
AA Change: I359K

DomainStartEndE-ValueType
Pfam:WTX 138 444 1.6e-37 PFAM
low complexity region 506 523 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 84% (42/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C T 5: 77,034,082 (GRCm39) D490N probably benign Het
Aatf A T 11: 84,401,251 (GRCm39) probably null Het
Appl1 A T 14: 26,684,811 (GRCm39) D79E probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Baz1a T A 12: 54,958,172 (GRCm39) E1026D probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Card14 C T 11: 119,217,524 (GRCm39) R386C probably damaging Het
Cenpb T C 2: 131,020,373 (GRCm39) probably benign Het
Clcn4 G A 7: 7,298,090 (GRCm39) Q40* probably null Het
Clec16a T C 16: 10,377,886 (GRCm39) Y28H probably damaging Het
Cul4a T C 8: 13,183,790 (GRCm39) S393P probably damaging Het
Dcbld2 A G 16: 58,265,722 (GRCm39) D194G possibly damaging Het
Dnah6 C T 6: 73,059,906 (GRCm39) V2841I probably damaging Het
Eaf1 T A 14: 31,217,272 (GRCm39) L16Q probably damaging Het
Eef1e1 C T 13: 38,840,162 (GRCm39) A48T probably damaging Het
Exoc3l C A 8: 106,021,932 (GRCm39) R57L probably damaging Het
Faf1 A G 4: 109,792,807 (GRCm39) N593S probably benign Het
Fosb A G 7: 19,041,310 (GRCm39) I61T probably damaging Het
Fstl5 A C 3: 76,229,579 (GRCm39) I127L possibly damaging Het
Gas2l2 T A 11: 83,319,882 (GRCm39) M125L probably benign Het
Gcnt1 C T 19: 17,306,481 (GRCm39) D415N probably benign Het
Gtpbp4 A G 13: 9,024,997 (GRCm39) M531T probably benign Het
Gucy1b2 T A 14: 62,656,589 (GRCm39) K256M probably damaging Het
Igf2bp2 A T 16: 21,897,480 (GRCm39) Y244* probably null Het
Jkamp T C 12: 72,140,809 (GRCm39) I118T possibly damaging Het
Kalrn A T 16: 33,991,749 (GRCm39) probably null Het
Kcnma1 A T 14: 23,558,120 (GRCm39) D317E probably damaging Het
Lipo2 A T 19: 33,726,951 (GRCm39) probably null Het
Lrig3 T A 10: 125,846,061 (GRCm39) I830K probably damaging Het
Map3k4 A G 17: 12,454,015 (GRCm39) I1429T probably damaging Het
Mkks G A 2: 136,722,606 (GRCm39) L184F probably benign Het
Mmp19 C T 10: 128,634,872 (GRCm39) T424I possibly damaging Het
Mrps23 A G 11: 88,100,980 (GRCm39) E57G probably damaging Het
Myh7 T C 14: 55,216,333 (GRCm39) T1282A probably benign Het
Or2y10 A G 11: 49,455,675 (GRCm39) D309G probably benign Het
Or8k1 T A 2: 86,047,173 (GRCm39) S294C probably damaging Het
Phf19 T C 2: 34,801,214 (GRCm39) N75S probably damaging Het
Pink1 T G 4: 138,041,490 (GRCm39) H477P probably damaging Het
Ppp6r2 G A 15: 89,169,990 (GRCm39) C835Y probably damaging Het
Prkcq T C 2: 11,257,973 (GRCm39) I295T probably damaging Het
Ptpn13 T C 5: 103,664,274 (GRCm39) S421P probably benign Het
Ptpn6 A G 6: 124,705,914 (GRCm39) S77P probably damaging Het
Ptpre G T 7: 135,271,574 (GRCm39) M389I probably benign Het
Ranbp9 T C 13: 43,578,599 (GRCm39) D158G probably damaging Het
Sec14l3 C T 11: 4,025,547 (GRCm39) S357L probably benign Het
Slc1a6 A G 10: 78,627,067 (GRCm39) T135A probably damaging Het
Spef2 A T 15: 9,716,445 (GRCm39) D323E possibly damaging Het
Taf2 T A 15: 54,919,186 (GRCm39) K396N possibly damaging Het
Tcf12 A T 9: 71,824,309 (GRCm39) V94E probably damaging Het
Trim24 T A 6: 37,920,415 (GRCm39) I404N possibly damaging Het
Other mutations in Amer3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Amer3 APN 1 34,627,608 (GRCm39) missense probably benign 0.26
IGL01062:Amer3 APN 1 34,625,820 (GRCm39) missense probably damaging 0.96
IGL01501:Amer3 APN 1 34,627,398 (GRCm39) missense probably benign
IGL02642:Amer3 APN 1 34,625,761 (GRCm39) utr 5 prime probably benign
IGL02861:Amer3 APN 1 34,627,206 (GRCm39) missense probably damaging 1.00
IGL02953:Amer3 APN 1 34,626,877 (GRCm39) missense probably damaging 0.98
R0335:Amer3 UTSW 1 34,618,381 (GRCm39) unclassified probably benign
R0639:Amer3 UTSW 1 34,626,902 (GRCm39) nonsense probably null
R1391:Amer3 UTSW 1 34,627,470 (GRCm39) missense probably benign 0.09
R1514:Amer3 UTSW 1 34,618,408 (GRCm39) unclassified probably benign
R1615:Amer3 UTSW 1 34,627,252 (GRCm39) missense probably damaging 0.99
R2014:Amer3 UTSW 1 34,618,525 (GRCm39) unclassified probably benign
R2104:Amer3 UTSW 1 34,627,759 (GRCm39) missense probably benign 0.00
R3080:Amer3 UTSW 1 34,627,503 (GRCm39) missense probably benign 0.23
R4508:Amer3 UTSW 1 34,627,380 (GRCm39) missense probably benign 0.00
R4635:Amer3 UTSW 1 34,626,958 (GRCm39) missense probably damaging 1.00
R4978:Amer3 UTSW 1 34,618,381 (GRCm39) unclassified probably benign
R4990:Amer3 UTSW 1 34,627,822 (GRCm39) missense probably benign 0.17
R4991:Amer3 UTSW 1 34,627,822 (GRCm39) missense probably benign 0.17
R5112:Amer3 UTSW 1 34,626,157 (GRCm39) missense possibly damaging 0.94
R5645:Amer3 UTSW 1 34,627,462 (GRCm39) missense possibly damaging 0.76
R6483:Amer3 UTSW 1 34,626,771 (GRCm39) missense probably damaging 0.97
R6769:Amer3 UTSW 1 34,627,330 (GRCm39) missense possibly damaging 0.93
R7097:Amer3 UTSW 1 34,627,869 (GRCm39) missense probably benign
R7246:Amer3 UTSW 1 34,625,809 (GRCm39) missense possibly damaging 0.82
R7347:Amer3 UTSW 1 34,626,983 (GRCm39) missense probably damaging 1.00
R7466:Amer3 UTSW 1 34,627,074 (GRCm39) missense probably damaging 1.00
R7719:Amer3 UTSW 1 34,628,083 (GRCm39) missense possibly damaging 0.55
R8158:Amer3 UTSW 1 34,626,741 (GRCm39) missense possibly damaging 0.68
R8862:Amer3 UTSW 1 34,626,465 (GRCm39) missense probably damaging 1.00
R9028:Amer3 UTSW 1 34,627,758 (GRCm39) missense probably benign 0.28
R9287:Amer3 UTSW 1 34,627,900 (GRCm39) missense possibly damaging 0.69
R9567:Amer3 UTSW 1 34,627,836 (GRCm39) missense probably benign 0.09
R9620:Amer3 UTSW 1 34,628,043 (GRCm39) missense probably benign 0.09
RF016:Amer3 UTSW 1 34,626,201 (GRCm39) missense probably damaging 1.00
X0020:Amer3 UTSW 1 34,627,917 (GRCm39) missense probably benign 0.00
Z1176:Amer3 UTSW 1 34,628,094 (GRCm39) missense probably benign
Z1177:Amer3 UTSW 1 34,626,277 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTCACCTGCCCAGAATGAAGCATC -3'
(R):5'- AAGCTGCACATAGACAACGGGGTC -3'

Sequencing Primer
(F):5'- TGAAGCATCAGACTTCAACAAGTTC -3'
(R):5'- AGTCATCATCCAGGATTGGGC -3'
Posted On 2013-04-16