Incidental Mutation 'R5556:Accs'
ID 501150
Institutional Source Beutler Lab
Gene Symbol Accs
Ensembl Gene ENSMUSG00000040272
Gene Name 1-aminocyclopropane-1-carboxylate synthase (inactive)
Synonyms 2610203E10Rik
MMRRC Submission 043113-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5556 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 93663812-93680288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93666428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 420 (Y420H)
Ref Sequence ENSEMBL: ENSMUSP00000106877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041593] [ENSMUST00000068513] [ENSMUST00000111246]
AlphaFold A2AIG8
Predicted Effect probably damaging
Transcript: ENSMUST00000041593
AA Change: Y397H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036268
Gene: ENSMUSG00000040272
AA Change: Y397H

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: Y397H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065389
Gene: ENSMUSG00000040272
AA Change: Y397H

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: Y420H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106877
Gene: ENSMUSG00000040272
AA Change: Y420H

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,026 (GRCm39) probably null Het
Abca13 A T 11: 9,208,546 (GRCm39) I240F possibly damaging Het
Aco2 T C 15: 81,773,520 (GRCm39) Y20H probably damaging Het
Adck2 T C 6: 39,560,869 (GRCm39) V419A probably benign Het
Bahd1 T A 2: 118,746,751 (GRCm39) N123K probably damaging Het
Cast A G 13: 74,844,008 (GRCm39) probably null Het
Cd164l2 T A 4: 132,951,016 (GRCm39) V157E probably damaging Het
Cdk11b C T 4: 155,718,604 (GRCm39) Q185* probably null Het
Ces2g T C 8: 105,694,074 (GRCm39) F470S probably benign Het
Cherp C G 8: 73,221,824 (GRCm39) Q313H probably damaging Het
Chrna4 A G 2: 180,675,773 (GRCm39) V110A possibly damaging Het
Cndp2 A G 18: 84,690,249 (GRCm39) V231A probably benign Het
Cst7 A T 2: 150,412,488 (GRCm39) H17L probably benign Het
Decr1 C T 4: 15,919,244 (GRCm39) D300N probably damaging Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dgkb T G 12: 38,177,363 (GRCm39) V230G probably damaging Het
Dis3l2 T C 1: 86,901,126 (GRCm39) V439A possibly damaging Het
Disp3 C T 4: 148,342,614 (GRCm39) G612D probably benign Het
Dock7 T C 4: 98,832,972 (GRCm39) T1962A probably damaging Het
Entrep2 A G 7: 64,505,957 (GRCm39) F96S probably damaging Het
Fibp T A 19: 5,514,227 (GRCm39) V304E possibly damaging Het
Flt3 T A 5: 147,269,807 (GRCm39) probably null Het
Kifc3 G A 8: 95,835,087 (GRCm39) Q233* probably null Het
Klhl42 C A 6: 147,009,610 (GRCm39) S483Y probably benign Het
Map3k19 G A 1: 127,762,284 (GRCm39) R276* probably null Het
Mecom A G 3: 30,292,249 (GRCm39) S87P probably damaging Het
Med13 A G 11: 86,218,664 (GRCm39) V416A probably benign Het
Mepe G A 5: 104,486,078 (GRCm39) G406D probably damaging Het
Met T G 6: 17,534,175 (GRCm39) L673V probably benign Het
Mlh3 A T 12: 85,315,267 (GRCm39) Y306* probably null Het
Nrxn2 C A 19: 6,540,121 (GRCm39) A814E probably damaging Het
Nsmaf C T 4: 6,398,621 (GRCm39) V828I probably benign Het
Or2j3 T A 17: 38,615,964 (GRCm39) K129N possibly damaging Het
Or9r7 A T 10: 129,962,728 (GRCm39) L66H probably damaging Het
Panx1 A G 9: 14,918,929 (GRCm39) I310T possibly damaging Het
Pcare T C 17: 72,059,420 (GRCm39) K86E possibly damaging Het
Pcdhb6 T A 18: 37,467,442 (GRCm39) L121Q probably damaging Het
Plekha7 G A 7: 115,763,384 (GRCm39) T406I probably benign Het
Prtg T C 9: 72,758,986 (GRCm39) S447P probably damaging Het
Ptprr A G 10: 116,087,054 (GRCm39) Y267C probably damaging Het
Rbpjl A G 2: 164,249,982 (GRCm39) T134A probably benign Het
Relch C A 1: 105,620,892 (GRCm39) Q456K probably benign Het
Rpe C A 1: 66,745,625 (GRCm39) T55N probably damaging Het
Scn1a T C 2: 66,155,141 (GRCm39) D606G probably benign Het
Setd5 T A 6: 113,124,463 (GRCm39) N1105K probably benign Het
Sh3d21 T C 4: 126,056,029 (GRCm39) N126D possibly damaging Het
Shank1 A G 7: 43,993,739 (GRCm39) probably benign Het
Srgap3 T A 6: 112,716,039 (GRCm39) D627V probably damaging Het
Tacc2 T A 7: 130,276,336 (GRCm39) S1796T probably damaging Het
Tmco3 G A 8: 13,344,870 (GRCm39) V217I probably damaging Het
Trgc4 A T 13: 19,536,477 (GRCm39) R178S unknown Het
Tspan10 A T 11: 120,335,541 (GRCm39) Y217F possibly damaging Het
Usp3 G A 9: 66,451,303 (GRCm39) T153M possibly damaging Het
Xdh G T 17: 74,204,759 (GRCm39) T1067K probably benign Het
Zfp334 T C 2: 165,222,504 (GRCm39) D513G probably benign Het
Other mutations in Accs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Accs APN 2 93,669,587 (GRCm39) splice site probably benign
IGL02704:Accs APN 2 93,673,271 (GRCm39) missense probably damaging 0.99
IGL02724:Accs APN 2 93,676,121 (GRCm39) missense probably damaging 1.00
IGL02929:Accs APN 2 93,674,566 (GRCm39) missense probably damaging 1.00
PIT4243001:Accs UTSW 2 93,671,679 (GRCm39) missense probably benign
R0043:Accs UTSW 2 93,672,230 (GRCm39) missense probably benign 0.03
R0644:Accs UTSW 2 93,669,574 (GRCm39) missense probably damaging 1.00
R1712:Accs UTSW 2 93,678,448 (GRCm39) missense probably damaging 0.96
R2215:Accs UTSW 2 93,672,243 (GRCm39) missense probably benign 0.00
R4755:Accs UTSW 2 93,671,682 (GRCm39) missense probably damaging 1.00
R4852:Accs UTSW 2 93,674,605 (GRCm39) missense probably damaging 1.00
R4997:Accs UTSW 2 93,672,228 (GRCm39) nonsense probably null
R5287:Accs UTSW 2 93,666,298 (GRCm39) missense probably damaging 1.00
R5760:Accs UTSW 2 93,676,105 (GRCm39) missense probably damaging 1.00
R5942:Accs UTSW 2 93,666,392 (GRCm39) missense probably damaging 1.00
R5972:Accs UTSW 2 93,669,572 (GRCm39) missense probably damaging 1.00
R6820:Accs UTSW 2 93,673,266 (GRCm39) missense probably null 1.00
R7513:Accs UTSW 2 93,670,437 (GRCm39) missense possibly damaging 0.94
R7861:Accs UTSW 2 93,666,077 (GRCm39) makesense probably null
R7947:Accs UTSW 2 93,674,602 (GRCm39) missense probably damaging 1.00
R8038:Accs UTSW 2 93,673,262 (GRCm39) critical splice donor site probably null
R8404:Accs UTSW 2 93,668,460 (GRCm39) missense probably damaging 1.00
R8502:Accs UTSW 2 93,668,460 (GRCm39) missense probably damaging 1.00
R8876:Accs UTSW 2 93,668,403 (GRCm39) missense probably damaging 1.00
R9211:Accs UTSW 2 93,668,614 (GRCm39) missense probably damaging 1.00
R9369:Accs UTSW 2 93,666,093 (GRCm39) nonsense probably null
Z1177:Accs UTSW 2 93,678,498 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGGAGGAAGAGACTGCTCAC -3'
(R):5'- ATGCAACGGTGTGAAGATGC -3'

Sequencing Primer
(F):5'- GAAGAGACTGCTCACCCAGG -3'
(R):5'- GGTGTACCTGCCAGAAAACCATG -3'
Posted On 2017-12-01