Incidental Mutation 'R5356:Amn1'
ID424100
Institutional Source Beutler Lab
Gene Symbol Amn1
Ensembl Gene ENSMUSG00000068250
Gene Nameantagonist of mitotic exit network 1
Synonyms
MMRRC Submission 042935-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #R5356 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location149157147-149188712 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 149166894 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 205 (I205M)
Ref Sequence ENSEMBL: ENSMUSP00000107160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095319] [ENSMUST00000111535] [ENSMUST00000141346]
Predicted Effect possibly damaging
Transcript: ENSMUST00000095319
AA Change: I162M

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092957
Gene: ENSMUSG00000068250
AA Change: I162M

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 possibly damaging
Transcript: ENSMUST00000111535
AA Change: I205M

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107160
Gene: ENSMUSG00000068250
AA Change: I205M

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
SMART Domains Protein: ENSMUSP00000116060
Gene: ENSMUSG00000068250

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 noncoding transcript
Transcript: ENSMUST00000150610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152062
Predicted Effect probably benign
Transcript: ENSMUST00000156864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204681
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 C T 3: 37,065,256 T162I probably damaging Het
Adam22 C A 5: 8,090,182 G202W probably damaging Het
Ankrd50 A C 3: 38,456,185 S678A probably damaging Het
Atg13 G A 2: 91,692,466 R78* probably null Het
Bmper T G 9: 23,373,861 F235L probably benign Het
Btn2a2 C T 13: 23,482,875 V187I probably benign Het
Cabs1 G A 5: 87,979,633 V48I probably benign Het
Cacnb3 A G 15: 98,641,617 I212V probably damaging Het
Cdc45 C T 16: 18,795,897 R205H probably damaging Het
Cep162 T C 9: 87,206,895 E978G probably damaging Het
Cmya5 A T 13: 93,063,485 L3445Q probably damaging Het
Cntrl T A 2: 35,148,899 L1067* probably null Het
Cyp20a1 G A 1: 60,379,387 V329I probably benign Het
Cyp2d11 A T 15: 82,390,511 N288K probably benign Het
D430041D05Rik T G 2: 104,255,409 T932P probably damaging Het
Dlk1 T A 12: 109,455,521 C54S probably damaging Het
Dupd1 G A 14: 21,677,023 R186W probably benign Het
Entpd6 T A 2: 150,770,383 F416L probably damaging Het
Evx1 A G 6: 52,316,617 T257A probably benign Het
Fpr-rs3 A T 17: 20,624,334 S182T probably damaging Het
Glra3 A T 8: 55,940,901 I16F probably benign Het
Gm11437 C A 11: 84,152,687 L259F possibly damaging Het
Gorasp1 A T 9: 119,927,958 L386Q probably damaging Het
Gpsm1 T C 2: 26,340,562 V508A possibly damaging Het
Gstm1 T A 3: 108,012,736 I180F probably benign Het
Hc T C 2: 34,994,995 D1400G probably benign Het
Lrp2 A G 2: 69,464,708 V3422A possibly damaging Het
Map3k4 A G 17: 12,247,308 V1128A possibly damaging Het
Mboat2 G C 12: 24,957,573 V363L probably benign Het
Mgat3 A G 15: 80,211,610 I213V possibly damaging Het
Mgat3 A G 15: 80,212,454 N494S probably damaging Het
Mtf2 A T 5: 108,106,610 T426S possibly damaging Het
Muc3a T C 5: 137,210,564 I151V probably benign Het
Myh6 T C 14: 54,953,762 E874G probably damaging Het
Myo15 G A 11: 60,498,366 G2030R probably damaging Het
Ncdn T C 4: 126,747,228 Y493C probably damaging Het
Ncoa6 A G 2: 155,421,192 F441L probably damaging Het
Ndc80 A T 17: 71,521,108 S75T possibly damaging Het
Nf1 T C 11: 79,473,456 F1571L possibly damaging Het
Nme8 A G 13: 19,652,299 F236L probably damaging Het
Nsmce4a C A 7: 130,537,048 V289L probably damaging Het
Ntrk2 A T 13: 59,060,242 D634V probably damaging Het
Pcsk6 G C 7: 65,970,592 E479Q probably damaging Het
Pkd1 A G 17: 24,593,577 Q3828R probably damaging Het
Ptov1 T A 7: 44,864,665 T295S probably damaging Het
Ptprf A G 4: 118,226,338 M824T probably benign Het
Rbm6 T A 9: 107,852,666 H129L probably damaging Het
Rbm8a2 A G 1: 175,978,689 I74T possibly damaging Het
Ret A G 6: 118,197,118 S6P possibly damaging Het
Rspo3 A T 10: 29,500,068 C70* probably null Het
Sike1 C A 3: 103,001,790 A202D possibly damaging Het
Slc9a3r2 A G 17: 24,641,971 V88A probably damaging Het
Slco4c1 G T 1: 96,832,110 P499H probably damaging Het
Smg1 A G 7: 118,195,133 probably benign Het
Tmem135 A G 7: 89,305,515 V98A probably benign Het
Tor4a T A 2: 25,195,906 probably null Het
Txlna A G 4: 129,630,373 F397S probably damaging Het
Tyk2 A G 9: 21,115,744 I581T probably benign Het
Unc13a C T 8: 71,662,514 D164N probably benign Het
Vwa3b T C 1: 37,114,583 I502T probably damaging Het
Xrcc6 A G 15: 82,029,218 T6A probably benign Het
Zfp524 T C 7: 5,018,433 V320A probably benign Het
Other mutations in Amn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02391:Amn1 APN 6 149169446 critical splice donor site probably null
PIT4453001:Amn1 UTSW 6 149170859 missense probably benign 0.00
R0153:Amn1 UTSW 6 149188593 utr 5 prime probably benign
R0494:Amn1 UTSW 6 149185136 unclassified probably benign
R0557:Amn1 UTSW 6 149171005 missense possibly damaging 0.50
R0717:Amn1 UTSW 6 149183472 missense possibly damaging 0.88
R0736:Amn1 UTSW 6 149183472 missense possibly damaging 0.88
R3420:Amn1 UTSW 6 149169452 nonsense probably null
R3421:Amn1 UTSW 6 149169452 nonsense probably null
R4466:Amn1 UTSW 6 149166845 unclassified probably null
R4760:Amn1 UTSW 6 149185113 missense probably benign
R5294:Amn1 UTSW 6 149185124 unclassified probably benign
R5561:Amn1 UTSW 6 149185024 missense probably damaging 0.98
R7501:Amn1 UTSW 6 149185031 missense probably benign 0.19
R7564:Amn1 UTSW 6 149185031 missense probably benign 0.19
X0064:Amn1 UTSW 6 149171035 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGGAAGTGTAGCACTGTATC -3'
(R):5'- AGACATAGCTGTTGGTAGGGC -3'

Sequencing Primer
(F):5'- GTGTAGCACTGTATCATTTTACTGAC -3'
(R):5'- CAGGGGGCTGAGAAATGTC -3'
Posted On2016-08-04