Incidental Mutation 'R5645:Amer3'
ID 441029
Institutional Source Beutler Lab
Gene Symbol Amer3
Ensembl Gene ENSMUSG00000045174
Gene Name APC membrane recruitment 3
Synonyms 9430069J07Rik, Fam123c
MMRRC Submission 043293-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5645 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 34618738-34630025 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34627462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 567 (H567L)
Ref Sequence ENSEMBL: ENSMUSP00000054748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052670]
AlphaFold Q6NS69
Predicted Effect possibly damaging
Transcript: ENSMUST00000052670
AA Change: H567L

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000054748
Gene: ENSMUSG00000045174
AA Change: H567L

DomainStartEndE-ValueType
Pfam:WTX 138 444 1.6e-37 PFAM
low complexity region 506 523 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,274,403 (GRCm39) I169V probably damaging Het
4930503B20Rik C T 3: 146,356,264 (GRCm39) E215K probably damaging Het
Abca6 T C 11: 110,141,234 (GRCm39) E29G probably damaging Het
Acsm1 A G 7: 119,239,920 (GRCm39) H288R probably damaging Het
Adamts12 A G 15: 11,277,506 (GRCm39) T707A possibly damaging Het
Adcy2 C A 13: 68,877,321 (GRCm39) probably null Het
Agbl4 A T 4: 111,514,527 (GRCm39) I513F possibly damaging Het
Ak5 A T 3: 152,361,670 (GRCm39) M84K possibly damaging Het
Akap1 T C 11: 88,736,453 (GRCm39) T103A probably benign Het
Akap9 A G 5: 4,100,590 (GRCm39) T2751A probably benign Het
Ano6 A G 15: 95,818,232 (GRCm39) Y325C probably benign Het
Apba2 A G 7: 64,345,554 (GRCm39) E248G possibly damaging Het
Asap2 T A 12: 21,315,983 (GRCm39) V967E probably damaging Het
Atosa T A 9: 74,932,961 (GRCm39) V976E probably damaging Het
Boc A G 16: 44,320,024 (GRCm39) V320A probably damaging Het
Car13 T A 3: 14,710,180 (GRCm39) Y41N possibly damaging Het
Ccdc162 T C 10: 41,428,352 (GRCm39) T1976A probably benign Het
Cep295 C A 9: 15,246,404 (GRCm39) S684I possibly damaging Het
Cep295 A T 9: 15,244,090 (GRCm39) H1455Q probably damaging Het
Cr2 G T 1: 194,836,581 (GRCm39) H861N probably damaging Het
Cul5 T C 9: 53,534,243 (GRCm39) I630V probably benign Het
Cyp2c37 G A 19: 39,982,596 (GRCm39) V145I probably benign Het
Dnmt1 G A 9: 20,833,443 (GRCm39) T500M probably damaging Het
Elp1 T C 4: 56,776,920 (GRCm39) T626A possibly damaging Het
Fam161a T A 11: 22,965,725 (GRCm39) I6N probably damaging Het
Fry T C 5: 150,304,332 (GRCm39) V574A probably damaging Het
Glb1l3 G T 9: 26,736,122 (GRCm39) L553I probably benign Het
Gm1123 T C 9: 98,896,244 (GRCm39) D212G probably benign Het
Grin2a T A 16: 9,810,090 (GRCm39) D103V probably damaging Het
Heg1 A G 16: 33,527,333 (GRCm39) I98V probably benign Het
Hmcn2 C A 2: 31,310,824 (GRCm39) T3356N possibly damaging Het
Hpf1 T G 8: 61,349,834 (GRCm39) I154S possibly damaging Het
Ifnar2 A G 16: 91,201,115 (GRCm39) D452G possibly damaging Het
Iqcc A T 4: 129,510,320 (GRCm39) H398Q possibly damaging Het
Iqgap3 T C 3: 88,025,006 (GRCm39) I669T probably damaging Het
Itgae A G 11: 73,020,074 (GRCm39) T859A probably damaging Het
Kansl1l T C 1: 66,840,503 (GRCm39) M266V probably benign Het
Kbtbd3 A G 9: 4,331,426 (GRCm39) D600G possibly damaging Het
Klf13 G A 7: 63,541,348 (GRCm39) probably benign Het
Kmt2d A G 15: 98,742,278 (GRCm39) probably benign Het
Lama1 A G 17: 68,109,943 (GRCm39) D2188G probably damaging Het
Leng8 A G 7: 4,148,273 (GRCm39) T682A probably damaging Het
Mab21l4 T C 1: 93,080,668 (GRCm39) T413A probably damaging Het
Mslnl G T 17: 25,956,816 (GRCm39) G34V possibly damaging Het
Mycbp2 A T 14: 103,426,044 (GRCm39) S2360R probably damaging Het
Mycbp2 C A 14: 103,426,051 (GRCm39) probably null Het
Nkx2-2 T C 2: 147,026,319 (GRCm39) T140A probably damaging Het
Or11h6 T C 14: 50,880,524 (GRCm39) V262A probably benign Het
Or4c125 A T 2: 89,170,049 (GRCm39) V199E possibly damaging Het
Oser1 C T 2: 163,248,965 (GRCm39) R79H probably damaging Het
Pfas A G 11: 68,881,958 (GRCm39) V909A probably damaging Het
Pkhd1l1 A G 15: 44,396,388 (GRCm39) E1970G probably benign Het
Prph2 G T 17: 47,221,593 (GRCm39) probably benign Het
Rusc2 G T 4: 43,425,758 (GRCm39) A1288S probably benign Het
Scart2 G A 7: 139,828,853 (GRCm39) V171I possibly damaging Het
Sdha A G 13: 74,471,958 (GRCm39) probably null Het
Sec16a T G 2: 26,329,907 (GRCm39) T703P probably benign Het
Senp7 T A 16: 55,993,571 (GRCm39) N724K possibly damaging Het
Skint1 A G 4: 111,882,699 (GRCm39) I248V probably benign Het
Slc9a5 T C 8: 106,083,645 (GRCm39) V395A probably benign Het
Slco1a4 T C 6: 141,780,385 (GRCm39) N135S possibly damaging Het
Sncaip A G 18: 53,028,028 (GRCm39) I412M probably damaging Het
Tacc2 A T 7: 130,225,781 (GRCm39) D841V possibly damaging Het
Tekt1 A T 11: 72,242,663 (GRCm39) H281Q probably benign Het
Tex46 G T 4: 136,340,228 (GRCm39) M104I probably benign Het
Tjp3 T C 10: 81,114,454 (GRCm39) probably null Het
Treh A G 9: 44,593,975 (GRCm39) Y154C probably damaging Het
Trim80 T A 11: 115,337,611 (GRCm39) L428Q probably damaging Het
Trpm6 A G 19: 18,830,968 (GRCm39) K1278E probably damaging Het
Tut4 G A 4: 108,414,570 (GRCm39) R49H probably damaging Het
Usp34 T C 11: 23,325,024 (GRCm39) M990T possibly damaging Het
Vps9d1 A G 8: 123,974,487 (GRCm39) S267P probably benign Het
Ywhae T C 11: 75,647,750 (GRCm39) M160T probably benign 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
R0183:Amer3 UTSW 1 34,626,838 (GRCm39) missense probably damaging 0.99
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
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'- CATTACCATGGGCATTGTCAAC -3'
(R):5'- TGGCAGAGGTCACAGCTTTG -3'

Sequencing Primer
(F):5'- ATTGTCAACTGGCTGCGCAG -3'
(R):5'- CACAGCTTTGTTGTTCCCAGAAATG -3'
Posted On 2016-11-08