Incidental Mutation 'R5287:Accs'
ID424390
Institutional Source Beutler Lab
Gene Symbol Accs
Ensembl Gene ENSMUSG00000040272
Gene Name1-aminocyclopropane-1-carboxylate synthase (non-functional)
Synonyms2610203E10Rik
MMRRC Submission 042871-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.157) question?
Stock #R5287 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location93833467-93849943 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93835953 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 463 (D463G)
Ref Sequence ENSEMBL: ENSMUSP00000106877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041593] [ENSMUST00000068513] [ENSMUST00000111246]
Predicted Effect probably damaging
Transcript: ENSMUST00000041593
AA Change: D440G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036268
Gene: ENSMUSG00000040272
AA Change: D440G

DomainStartEndE-ValueType
low complexity region 35 43 N/A INTRINSIC
Pfam:Aminotran_1_2 74 448 1.9e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000068513
AA Change: D440G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000065389
Gene: ENSMUSG00000040272
AA Change: D440G

DomainStartEndE-ValueType
low complexity region 35 43 N/A INTRINSIC
Pfam:Aminotran_1_2 74 448 1.9e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111246
AA Change: D463G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106877
Gene: ENSMUSG00000040272
AA Change: D463G

DomainStartEndE-ValueType
low complexity region 58 66 N/A INTRINSIC
Pfam:Aminotran_1_2 97 471 2.1e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146436
Predicted Effect probably benign
Transcript: ENSMUST00000150666
SMART Domains Protein: ENSMUSP00000119096
Gene: ENSMUSG00000040272

DomainStartEndE-ValueType
SCOP:d1b8ga_ 2 72 7e-9 SMART
Meta Mutation Damage Score 0.372 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik G T 17: 56,876,221 probably benign Het
Adcy8 C T 15: 64,716,152 V929I probably benign Het
Anp32a A T 9: 62,341,993 I16F possibly damaging Het
Arpin T C 7: 79,928,249 E144G probably damaging Het
Asb18 T C 1: 90,014,388 T64A probably benign Het
Asxl2 A G 12: 3,496,893 N559S probably benign Het
Brd7 G T 8: 88,357,541 Q148K probably damaging Het
Brinp1 A G 4: 68,792,964 W336R probably benign Het
Btnl9 A G 11: 49,169,607 V438A probably benign Het
Cat T C 2: 103,474,360 T107A probably damaging Het
Catsperg2 T C 7: 29,697,838 Y1080C possibly damaging Het
Ccdc138 T A 10: 58,575,705 F632I possibly damaging Het
Cd46 C T 1: 195,062,411 V340I possibly damaging Het
Celf1 T C 2: 91,009,207 S326P possibly damaging Het
Ces1e T G 8: 93,208,612 D404A probably benign Het
Chd3 A T 11: 69,349,069 probably null Het
Clhc1 A G 11: 29,578,244 probably benign Het
Cops8 C T 1: 90,606,620 probably benign Het
Cpox G A 16: 58,675,286 G322D probably damaging Het
Csmd2 C T 4: 128,486,884 R2078C probably benign Het
Dnm1l A C 16: 16,333,868 V240G probably damaging Het
Fam109a A G 5: 121,852,731 E52G possibly damaging Het
Fam196b A T 11: 34,403,058 T367S probably benign Het
Fam208b G A 13: 3,575,744 S1402L probably benign Het
Fezf1 C T 6: 23,248,011 V22M probably benign Het
Gm6818 T G 7: 38,400,487 noncoding transcript Het
Hand2 C T 8: 57,322,045 L47F probably damaging Het
Itga7 C A 10: 128,943,158 R351S probably benign Het
Mmp8 G T 9: 7,567,506 A456S probably benign Het
Mroh5 TGGAG TG 15: 73,783,074 probably benign Het
Olfr1416 A T 1: 92,480,297 V108E possibly damaging Het
Opn4 T C 14: 34,592,937 T460A probably benign Het
Otog T C 7: 46,269,329 F943S probably damaging Het
Pcnx A T 12: 81,982,051 Y1668F probably damaging Het
Phf24 A T 4: 42,933,831 probably null Het
Phkg2 GCTGCCGGACGAGTGGCCT GCT 7: 127,582,757 probably null Het
Ppargc1a G A 5: 51,462,825 probably benign Het
Ptprd G A 4: 75,954,168 R1355* probably null Het
Ptprn2 A T 12: 117,211,862 M721L probably damaging Het
Sec23ip A G 7: 128,766,136 E624G probably benign Het
Sfmbt1 G A 14: 30,816,820 V799M probably damaging Het
Snrnp200 T C 2: 127,231,687 V1335A probably benign Het
Sp140 G A 1: 85,610,824 probably null Het
Spdye4c T C 2: 128,592,640 S46P possibly damaging Het
Syde1 T C 10: 78,590,037 R99G probably benign Het
T2 A T 17: 8,418,003 M57L probably benign Het
Tfap2e T C 4: 126,734,646 I172M probably benign Het
Tk1 A T 11: 117,816,541 V140E probably damaging Het
Tln2 G A 9: 67,242,359 T1192M probably damaging Het
Tmed8 C A 12: 87,174,183 A210S probably damaging Het
Tnip2 A G 5: 34,513,764 L45P probably damaging Het
Ttc3 T C 16: 94,459,844 V1396A probably benign Het
Ttn G T 2: 76,732,092 S28803Y probably damaging Het
Wdr90 A T 17: 25,861,467 probably benign Het
Zfp7 G A 15: 76,891,222 R488Q probably damaging Het
Other mutations in Accs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Accs APN 2 93839242 splice site probably benign
IGL02704:Accs APN 2 93842926 missense probably damaging 0.99
IGL02724:Accs APN 2 93845776 missense probably damaging 1.00
IGL02929:Accs APN 2 93844221 missense probably damaging 1.00
PIT4243001:Accs UTSW 2 93841334 missense probably benign
R0043:Accs UTSW 2 93841885 missense probably benign 0.03
R0644:Accs UTSW 2 93839229 missense probably damaging 1.00
R1712:Accs UTSW 2 93848103 missense probably damaging 0.96
R2215:Accs UTSW 2 93841898 missense probably benign 0.00
R4755:Accs UTSW 2 93841337 missense probably damaging 1.00
R4852:Accs UTSW 2 93844260 missense probably damaging 1.00
R4997:Accs UTSW 2 93841883 nonsense probably null
R5556:Accs UTSW 2 93836083 missense probably damaging 1.00
R5760:Accs UTSW 2 93845760 missense probably damaging 1.00
R5942:Accs UTSW 2 93836047 missense probably damaging 1.00
R5972:Accs UTSW 2 93839227 missense probably damaging 1.00
R6820:Accs UTSW 2 93842921 missense probably null 1.00
R7513:Accs UTSW 2 93840092 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CACTGACAAATGGCGCATCC -3'
(R):5'- AAGGCATTGGACAGTCTCCTG -3'

Sequencing Primer
(F):5'- GAGAGGCATCTTCTACCACTTGAG -3'
(R):5'- AGGCATTGGACAGTCTCCTGAATTC -3'
Posted On2016-08-04