Incidental Mutation 'R0557:Amn1'
ID 45626
Institutional Source Beutler Lab
Gene Symbol Amn1
Ensembl Gene ENSMUSG00000068250
Gene Name antagonist of mitotic exit network 1
Synonyms C730024G19Rik
MMRRC Submission 038749-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R0557 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 149059075-149090210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149072503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 78 (Y78C)
Ref Sequence ENSEMBL: ENSMUSP00000092957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095319] [ENSMUST00000111535] [ENSMUST00000141346]
AlphaFold B8JKV0
Predicted Effect possibly damaging
Transcript: ENSMUST00000095319
AA Change: Y78C

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000092957
Gene: ENSMUSG00000068250
AA Change: Y78C

DomainStartEndE-ValueType
LRR 17 41 2.82e0 SMART
LRR 42 70 1.52e2 SMART
LRR 71 96 1.25e-1 SMART
LRR 97 122 3.89e-3 SMART
LRR 123 147 1.44e1 SMART
LRR 150 175 1.28e1 SMART
Blast:LRR 176 204 3e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000111535
AA Change: Y121C

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107160
Gene: ENSMUSG00000068250
AA Change: Y121C

DomainStartEndE-ValueType
LRR 60 84 2.82e0 SMART
LRR 85 113 1.52e2 SMART
LRR 114 139 1.25e-1 SMART
LRR 140 165 3.89e-3 SMART
LRR 166 190 1.44e1 SMART
LRR 193 218 1.28e1 SMART
Blast:LRR 219 247 4e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134181
Predicted Effect probably benign
Transcript: ENSMUST00000141346
AA Change: Y78C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116060
Gene: ENSMUSG00000068250
AA Change: Y78C

DomainStartEndE-ValueType
LRR 17 41 2.82e0 SMART
LRR 42 70 1.52e2 SMART
LRR 71 96 1.25e-1 SMART
LRR 97 121 1.44e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149149
Predicted Effect unknown
Transcript: ENSMUST00000156864
AA Change: Y47C
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203043
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 78,903,519 (GRCm39) H266Y probably damaging Het
Abi3bp C T 16: 56,488,750 (GRCm39) R1294C probably damaging Het
Acot3 T C 12: 84,105,630 (GRCm39) Y366H probably damaging Het
Ago1 A G 4: 126,353,817 (GRCm39) V254A probably benign Het
Ahnak T A 19: 8,979,308 (GRCm39) D197E probably benign Het
Aldh1b1 A T 4: 45,802,647 (GRCm39) T62S probably benign Het
Alox12e T C 11: 70,212,274 (GRCm39) R135G possibly damaging Het
Ankmy2 G A 12: 36,237,765 (GRCm39) S288N probably benign Het
Ano3 A T 2: 110,693,297 (GRCm39) probably null Het
Arfgap3 T C 15: 83,187,386 (GRCm39) D491G probably damaging Het
Arhgap15 T C 2: 44,006,629 (GRCm39) S249P possibly damaging Het
Atp9b A G 18: 80,809,137 (GRCm39) V211A probably damaging Het
Cabin1 A G 10: 75,562,751 (GRCm39) Y12H probably damaging Het
Cdkn2aip T C 8: 48,165,977 (GRCm39) T110A probably damaging Het
Cemip2 C T 19: 21,789,267 (GRCm39) A567V probably benign Het
Chchd6 A G 6: 89,551,569 (GRCm39) S31P probably damaging Het
Chrna3 A G 9: 54,923,149 (GRCm39) Y220H probably damaging Het
Ctu1 A G 7: 43,326,583 (GRCm39) D414G unknown Het
Cxxc1 C T 18: 74,351,845 (GRCm39) R241W possibly damaging Het
Cyp3a16 A G 5: 145,406,398 (GRCm39) I18T unknown Het
Dip2c A T 13: 9,603,495 (GRCm39) I405F possibly damaging Het
Disp3 A T 4: 148,325,861 (GRCm39) M1299K possibly damaging Het
Dnah9 T G 11: 65,975,492 (GRCm39) H1519P probably damaging Het
Ehd3 C A 17: 74,136,928 (GRCm39) Q366K probably benign Het
Exosc3 A T 4: 45,316,957 (GRCm39) M232K probably damaging Het
Fancm T C 12: 65,165,216 (GRCm39) probably null Het
Fgfr2 A G 7: 129,820,811 (GRCm39) V241A probably damaging Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Hars2 T C 18: 36,924,130 (GRCm39) I489T possibly damaging Het
Ice1 T C 13: 70,749,310 (GRCm39) I1945V probably benign Het
Il33 A C 19: 29,932,036 (GRCm39) N143T probably damaging Het
Ilvbl G A 10: 78,419,321 (GRCm39) W313* probably null Het
Insyn2a A G 7: 134,520,434 (GRCm39) L32P probably damaging Het
Isca1 G T 13: 59,904,788 (GRCm39) Q91K possibly damaging Het
Kcnh5 T A 12: 75,161,323 (GRCm39) Y195F probably damaging Het
Lama4 T G 10: 38,964,393 (GRCm39) I1355S probably benign Het
Lonrf1 T C 8: 36,697,574 (GRCm39) D470G probably benign Het
Mak A G 13: 41,193,135 (GRCm39) Y446H probably benign Het
Mki67 C T 7: 135,300,990 (GRCm39) S1348N possibly damaging Het
Mpzl3 A G 9: 44,977,806 (GRCm39) Y138C probably damaging Het
Myh8 T C 11: 67,192,624 (GRCm39) L1501P possibly damaging Het
Naa35 A G 13: 59,775,778 (GRCm39) E552G probably damaging Het
Ncor2 A T 5: 125,183,369 (GRCm39) L200* probably null Het
Nrm T C 17: 36,175,524 (GRCm39) V210A probably damaging Het
Nt5e T A 9: 88,248,519 (GRCm39) N405K probably damaging Het
Or1j4 T A 2: 36,740,760 (GRCm39) I234N possibly damaging Het
Or1o11 T A 17: 37,756,712 (GRCm39) I100N probably damaging Het
Orc2 T C 1: 58,508,846 (GRCm39) S434G probably damaging Het
Plcb4 G A 2: 135,796,269 (GRCm39) V388I probably damaging Het
Ppm1l A G 3: 69,405,234 (GRCm39) D177G probably benign Het
Prl8a2 A T 13: 27,536,875 (GRCm39) R165* probably null Het
Ptbp3 G A 4: 59,517,684 (GRCm39) R66* probably null Het
Pten A G 19: 32,795,290 (GRCm39) T286A probably benign Het
Rac2 C T 15: 78,449,174 (GRCm39) V113M probably damaging Het
Rai1 C T 11: 60,081,321 (GRCm39) T1795I probably benign Het
Ros1 T G 10: 51,961,359 (GRCm39) K1792Q possibly damaging Het
Sema6a A G 18: 47,382,567 (GRCm39) V660A probably benign Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Slc26a5 A G 5: 22,024,762 (GRCm39) S441P probably damaging Het
Slc27a3 A G 3: 90,294,163 (GRCm39) L462P probably damaging Het
Spag5 T A 11: 78,205,037 (GRCm39) S607R probably damaging Het
Spata18 A T 5: 73,809,013 (GRCm39) N29Y probably damaging Het
Spata20 C T 11: 94,376,048 (GRCm39) R22H probably benign Het
Spsb2 A C 6: 124,787,355 (GRCm39) Y263S probably damaging Het
Sptbn4 C A 7: 27,107,753 (GRCm39) E885* probably null Het
Syne2 T C 12: 75,976,075 (GRCm39) I1175T probably benign Het
Tmem209 A C 6: 30,501,913 (GRCm39) H253Q probably damaging Het
Trip12 A T 1: 84,702,468 (GRCm39) D788E probably damaging Het
Usp34 T C 11: 23,353,848 (GRCm39) S1509P probably damaging Het
Utp20 A T 10: 88,584,173 (GRCm39) D2661E probably damaging Het
Vars1 C A 17: 35,223,960 (GRCm39) P264Q possibly damaging Het
Vmn2r66 T G 7: 84,643,972 (GRCm39) S813R probably damaging Het
Wipf2 C A 11: 98,782,915 (GRCm39) Q114K possibly damaging Het
Wnt5b G T 6: 119,410,779 (GRCm39) H220Q probably damaging Het
Xirp2 A G 2: 67,346,695 (GRCm39) T2979A probably benign Het
Zfyve9 A G 4: 108,531,708 (GRCm39) V408A probably damaging Het
Zzef1 T C 11: 72,808,556 (GRCm39) S2744P probably damaging Het
Other mutations in Amn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02391:Amn1 APN 6 149,070,944 (GRCm39) critical splice donor site probably null
PIT4453001:Amn1 UTSW 6 149,072,357 (GRCm39) missense probably benign 0.00
R0153:Amn1 UTSW 6 149,090,091 (GRCm39) utr 5 prime probably benign
R0494:Amn1 UTSW 6 149,086,634 (GRCm39) unclassified probably benign
R0717:Amn1 UTSW 6 149,084,970 (GRCm39) missense possibly damaging 0.88
R0736:Amn1 UTSW 6 149,084,970 (GRCm39) missense possibly damaging 0.88
R3420:Amn1 UTSW 6 149,070,950 (GRCm39) nonsense probably null
R3421:Amn1 UTSW 6 149,070,950 (GRCm39) nonsense probably null
R4466:Amn1 UTSW 6 149,068,343 (GRCm39) splice site probably null
R4760:Amn1 UTSW 6 149,086,611 (GRCm39) missense probably benign
R5294:Amn1 UTSW 6 149,086,622 (GRCm39) unclassified probably benign
R5356:Amn1 UTSW 6 149,068,392 (GRCm39) missense possibly damaging 0.80
R5561:Amn1 UTSW 6 149,086,522 (GRCm39) missense probably damaging 0.98
R7501:Amn1 UTSW 6 149,086,529 (GRCm39) missense probably benign 0.19
R7564:Amn1 UTSW 6 149,086,529 (GRCm39) missense probably benign 0.19
R7643:Amn1 UTSW 6 149,086,529 (GRCm39) missense probably benign 0.19
R7645:Amn1 UTSW 6 149,086,529 (GRCm39) missense probably benign 0.19
R8097:Amn1 UTSW 6 149,070,853 (GRCm39) unclassified probably benign
R9390:Amn1 UTSW 6 149,084,983 (GRCm39) missense probably damaging 1.00
R9565:Amn1 UTSW 6 149,090,103 (GRCm39) start gained probably benign
X0064:Amn1 UTSW 6 149,072,533 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGACAGTATGTAAGTTGTGCCAAG -3'
(R):5'- GAAGCAGCCTTTATGAAAGCAGCC -3'

Sequencing Primer
(F):5'- GTAAGTTGTGCCAAGTTATCTCTCAC -3'
(R):5'- GAAAGCAGCCTCTGATATCTGTTC -3'
Posted On 2013-06-11